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
glycogen metabolic process
protein binding
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 14,719,060     (Assembly: GRCm38)    
Ref Base A
Codon Change aaT/aaA
Var Base T
Zygosity Heterozygous
Read Depth 53
Allele Frequency
A:0.55
T:0.45
Amino Acid Position 618
Amino Acid Change N->K (Asparagine -> Lysine)
Sample ID IGL00670
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 16 Other Mutations

 Predictions 
Polyphen Score 0.01
Polyphen Prediction Benign
Sift Score 0.81
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved