|Institutional Source||Beutler Lab|
|Gene Name||protein phosphatase 1, regulatory (inhibitor) subunit 3C|
|Synonyms||protein targeting to glicogen, Ppp1r5, PTG|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2229 (G1)|
|Chromosomal Location||36731737-36736653 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 36733698 bp|
|Amino Acid Change||Arginine to Leucine at position 224 (R224L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000084578 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000087321]|
|Predicted Effect||probably benign
AA Change: R224L
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: R224L
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||99% (78/79)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a carbohydrate binding protein that is a subunit of the protein phosphatase 1 (PP1) complex. PP1 catalyzes reversible protein phosphorylation, which is important in a wide range of cellular activities. The encoded protein affects glycogen biosynthesis by activating glycogen synthase and limiting glycogen breakdown by reducing glycogen phosphorylase activity. DNA hypermethylation of this gene has been found in colorectal cancer patients. The encoded protein also interacts with the laforin protein, which is a protein tyrosine phosphatase implicated in Lafora disease. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous null mice are embyronic lethal. Heterozygotes have reduced glycogen stores, attenuated glycogen synthesis, glucose intolerance, hyperinsulinemia and insulin resistance. Mice homozygous for a different knock-out allele exhibit normal lifespan with enhanced whole body insulin sensitivity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ppp1r3c||
(F):5'- AAGACTGTGGGCTCTATCTCAGTC -3'
(R):5'- GCCTCGAGAACTGCTCTTTG -3'
(F):5'- TATCTCAGTCTTAGGGGGCCC -3'
(R):5'- CTTTGCAAGATCGGACGGTGAC -3'