Opa3 optic atrophy 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Opa3provided by MGI
Official Full Name: optic atrophy 3provided by MGI
Primary source: MGI:MGI:2686271
See related: Ensembl:ENSMUSG00000052214 AllianceGenome:MGI:2686271
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gm472; Gm1425; D630048P19Rik
Summary: Acts upstream of or within several processes, including bone development; fat cell differentiation; and neuromuscular process. Located in mitochondrion. Is expressed in several structures, including eye; jaw; musculoskeletal system; optic nerve; and salivary gland. Used to study 3-methylglutaconic aciduria type 3. Human ortholog(s) of this gene implicated in 3-methylglutaconic aciduria type 3 and optic atrophy 3. Orthologous to human OPA3 (outer mitochondrial membrane lipid metabolism regulator OPA3). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in heart adult (RPKM 34.9), colon adult (RPKM 27.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 A3; 7 9.48 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (18962314..18980742)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (19228389..19246817)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Opa3(L122P) mice displayed craniofacial abnormalities, including undergrowth of the lower mandible, accompanied in some individuals by cranial asymmetry and incisor malocclusion
Title: Disrupted mitochondrial function in the Opa3L122P mouse model for Costeff Syndrome impairs skeletal integrity.
Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome.
Title: Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome.
Mutant Opa3 protein retains its mitochondrial localization and induces disrupted mitochondrial morphology. Opa3 accumulates in the lens. The results may reflect a slow turnover of Opa3 protein in vivo and may be important in normal lens physiology.
Title: Mitochondrial localization and ocular expression of mutant Opa3 in a mouse model of 3-methylglutaconicaciduria type III.
to investigate the OPA3 function we have generated a novel ENU-induced mutant mouse carrying a missense mutation in the OPA3 gene. In the heterozygous state, the mice appear uncompromised. In the homozygous state mice display some of the features of MGA.
Title: A missense mutation in the murine Opa3 gene models human Costeff syndrome.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:235613

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

D7Wsu1e (e-PCR), detects polymorphism
- UniSTS:142704

RH118305 (e-PCR)
- UniSTS:159602

Opa3 (e-PCR), detects polymorphism
- UniSTS:547975

Opa3 (e-PCR), detects polymorphism
- UniSTS:547976

Opa3 (e-PCR), detects polymorphism
- UniSTS:547977

Opa3 (e-PCR), detects polymorphism
- UniSTS:547978

AW822235 (e-PCR)
- UniSTS:208088

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within bone development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within fat cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of lipid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of lipid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in visual perception	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: optic atrophy 3 protein homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.