Ppp1r3a - SNV Details



 Gene Information 
Gene Name Ppp1r3a
Gene Description protein phosphatase 1, regulatory (inhibitor) subunit 3A [Source:MGI Symbol;Acc:MGI:2153588]
MGI phenotype Homozygous mutant mice have reduced levels of skeletal muscle glycogen. Whereas one model was normoglycemic and grossly normal, another on a similar genetic background was glucose intolerant, insulin resistant, and gained weight to the point of obesity.
Uniprot Name
CCDS Name
Gene GO
dephosphorylation; glycogen metabolic process; protein binding; integral component of membrane; protein serine/threonine phosphatase activity
Homolog in other species PPP1R3A
Omim http://omim.org/entry/600917
Immgen Expression
LOW
Gnf Expression
MEDIAN(HIGH IN IMM.G2, SPLEEN)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000042717
Chromosome 6
Coordinate 14,755,084     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 10
Allele Frequency
A:R0.50
G:V0.50
Amino Acid Change Y->H (Tyrosine -> Histidine)
Sample ID IGL00552
Median Base Quality 36.5
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 14 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved