|Institutional Source||Beutler Lab|
|Gene Name||protein phosphatase 1, regulatory (inhibitor) subunit 3A|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6218 (G1)|
|Chromosomal Location||14713977-14755274 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 14718431 bp|
|Amino Acid Change||Valine to Aspartic acid at position 828 (V828D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000049054 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045096]|
|Predicted Effect||probably damaging
AA Change: V828D
PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
AA Change: V828D
|Meta Mutation Damage Score||0.2465|
|Coding Region Coverage||
|Validation Efficiency||100% (65/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The glycogen-associated form of protein phosphatase-1 (PP1) derived from skeletal muscle is a heterodimer composed of a 37-kD catalytic subunit and a 124-kD targeting and regulatory subunit. This gene encodes the regulatory subunit which binds to muscle glycogen with high affinity, thereby enhancing dephosphorylation of glycogen-bound substrates for PP1 such as glycogen synthase and glycogen phosphorylase kinase. [provided by RefSeq, Jul 2008]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ppp1r3a||
(F):5'- AACTTGAGAGCTGTCCCGAG -3'
(R):5'- TTTGATCCACATGAAGGGAGG -3'
(F):5'- AGAAGCGCTGGCAGTGTC -3'
(R):5'- CCCTTTGTCATGGAGATACAGCAG -3'