Ppp3cb - SNV Details



 Gene Information 
Gene Name Ppp3cb
Old Gene Names for Ppp3cb 1110063j16rik , Calnb
Gene Description protein phosphatase 3, catalytic subunit, beta isoform [Source:MGI Symbol;Acc:MGI:107163]
MGI phenotype Homozygous null mice have small hearts and thymi, and reduced body weight. Cardiac function is normal, but mice lack a cardiac hypertrophic response to pressure overload, angiotensin II, or isopreteronol. Thymi are hypoplastic, with abnormal T cell development and reduced numbers of T cells.
Uniprot Name
CCDS Name
Gene GO
calmodulin-dependent protein phosphatase activity; cellular response to drug; enzyme binding; negative regulation of T cell mediated cytotoxicity; response to cytokine; protein dephosphorylation; hydrolase activity; drug binding; regulation of gene expression; protein binding; positive regulation of insulin secretion involved in cellular response to glucose stimulus; calcium-dependent protein serine/threonine phosphatase activity; cytosol; calmodulin binding; protein dimerization activity; protein phosphorylation; social behavior; T cell homeostasis; calcium ion-dependent exocytosis; plasma membrane; protein serine/threonine phosphatase activity; regulation of insulin secretion; heart development; calcium ion binding; protein phosphatase 2B binding; locomotion involved in locomotory behavior; calcineurin complex; T cell differentiation
Homolog in other species PPP3CB
Omim http://omim.org/entry/114106
Immgen Expression
HIGH(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, TGD GROUP)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021816
Chromosome 14
Coordinate 20,523,984     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 14
Allele Frequency
A:R0.57
T:V0.43
Amino Acid Change V->D (Valine -> Aspartic acid)
Sample ID IGL03301
Median Base Quality 39.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 31 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved