Oca2 - SNV Details



 Human Rare Diseases 
Angelman syndrome
Oculocutaneous albinism type 2
Prader-Willi syndrome

 Gene Information 
Gene Name Oca2
Old Gene Names for Oca2 , D7h15s12 , D7icr28rn , D7nic1
Gene Description oculocutaneous albinism II [Source:MGI Symbol;Acc:MGI:97454]
MGI phenotype Mutations generally result in varying degrees of coat and eye pigment dilution. Specific alleles produce cleft palate, reproductive, endocrine or neurological disorders, and/or lethality.
Uniprot Name
CCDS Name
Gene GO
arsenite transmembrane transporter activity; endosome membrane; membrane; lysosomal membrane; cell proliferation; spermatid development; transporter activity; endoplasmic reticulum membrane; melanocyte differentiation; protein binding; integral component of membrane; arsenite transport; melanosome membrane; pigmentation; transmembrane transport; developmental pigmentation; melanin biosynthetic process; sodium ion transport
Homolog in other species OCA2
Omim http://omim.org/entry/611409
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000030450
Chromosome 7
Coordinate 56,295,484     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 57
Allele Frequency
A:R0.53
G:V0.47
Amino Acid Change H->R (Histidine -> Arginine)
Sample ID IGL03083
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 50 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved