Incidental Mutation 'R4535:Ppp1r3c'
ID 333314
Institutional Source Beutler Lab
Gene Symbol Ppp1r3c
Ensembl Gene ENSMUSG00000067279
Gene Name protein phosphatase 1, regulatory subunit 3C
Synonyms protein targeting to glicogen, Ppp1r5, PTG
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4535 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 36709131-36714004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36711522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 83 (K83E)
Ref Sequence ENSEMBL: ENSMUSP00000084578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087321]
AlphaFold Q7TMB3
Predicted Effect probably damaging
Transcript: ENSMUST00000087321
AA Change: K83E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084578
Gene: ENSMUSG00000067279
AA Change: K83E

DomainStartEndE-ValueType
low complexity region 115 128 N/A INTRINSIC
Pfam:CBM_21 151 257 5.5e-38 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype 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
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef4 T C 1: 34,762,162 (GRCm39) S473P unknown Het
Azin1 A T 15: 38,493,849 (GRCm39) I258N probably benign Het
Bod1l G A 5: 41,989,574 (GRCm39) A383V probably benign Het
Carmil3 GGACGA GGA 14: 55,736,933 (GRCm39) probably benign Het
Cd200r3 T A 16: 44,774,552 (GRCm39) D188E probably benign Het
Cd4 A T 6: 124,847,414 (GRCm39) F250Y probably benign Het
Clcn4 T A 7: 7,290,813 (GRCm39) Y662F probably benign Het
Cpa2 T C 6: 30,552,020 (GRCm39) V249A probably benign Het
Depdc5 CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT 5: 33,067,751 (GRCm39) probably benign Het
Dhx57 A G 17: 80,582,511 (GRCm39) Y365H probably damaging Het
Dsg1c A G 18: 20,408,322 (GRCm39) E457G probably benign Het
Eef2k T A 7: 120,457,822 (GRCm39) Y60* probably null Het
Efcc1 A G 6: 87,730,133 (GRCm39) D482G probably null Het
Exoc4 C T 6: 33,254,179 (GRCm39) R112C probably damaging Het
Fam178b A T 1: 36,639,606 (GRCm39) D293E probably benign Het
Fbxl21 G A 13: 56,674,873 (GRCm39) V49I probably damaging Het
Fyco1 A G 9: 123,667,953 (GRCm39) V91A probably damaging Het
H2-M10.4 T C 17: 36,772,736 (GRCm39) E82G probably damaging Het
Hmcn1 A G 1: 150,439,531 (GRCm39) I5434T probably damaging Het
Hormad1 T C 3: 95,492,452 (GRCm39) V343A probably benign Het
Incenp T C 19: 9,861,303 (GRCm39) N450S unknown Het
Iqsec3 T C 6: 121,356,977 (GRCm39) K1035E possibly damaging Het
Ltn1 A T 16: 87,223,174 (GRCm39) V102D probably damaging Het
Mcur1 T C 13: 43,698,016 (GRCm39) T295A probably damaging Het
Pals1 A T 12: 78,871,611 (GRCm39) D397V possibly damaging Het
Pcdha3 T C 18: 37,081,013 (GRCm39) V585A probably damaging Het
Plcd4 A G 1: 74,602,627 (GRCm39) T594A probably damaging Het
Sesn3 C A 9: 14,233,954 (GRCm39) T309K probably benign Het
Slc38a3 T C 9: 107,533,405 (GRCm39) N251S probably benign Het
Sptbn4 A G 7: 27,067,127 (GRCm39) V614A probably damaging Het
Srsf4 A G 4: 131,601,175 (GRCm39) K34R probably damaging Het
Tfpi2 T C 6: 3,968,044 (GRCm39) N32S possibly damaging Het
Ttll2 A T 17: 7,619,120 (GRCm39) I269N probably benign Het
Utp3 T C 5: 88,703,458 (GRCm39) V329A probably benign Het
Vmn2r102 A G 17: 19,914,975 (GRCm39) T847A probably benign Het
Vmn2r70 A T 7: 85,214,541 (GRCm39) W204R probably damaging Het
Xrcc3 A G 12: 111,770,966 (GRCm39) L321P probably damaging Het
Other mutations in Ppp1r3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Ppp1r3c APN 19 36,711,503 (GRCm39) missense probably damaging 1.00
IGL00486:Ppp1r3c APN 19 36,711,324 (GRCm39) missense probably damaging 1.00
IGL01865:Ppp1r3c APN 19 36,711,578 (GRCm39) missense probably benign 0.00
IGL02896:Ppp1r3c APN 19 36,710,865 (GRCm39) missense probably benign 0.26
R0110:Ppp1r3c UTSW 19 36,711,617 (GRCm39) missense possibly damaging 0.66
R0450:Ppp1r3c UTSW 19 36,711,617 (GRCm39) missense possibly damaging 0.66
R0456:Ppp1r3c UTSW 19 36,711,291 (GRCm39) nonsense probably null
R0469:Ppp1r3c UTSW 19 36,711,617 (GRCm39) missense possibly damaging 0.66
R1539:Ppp1r3c UTSW 19 36,711,361 (GRCm39) missense probably benign
R1859:Ppp1r3c UTSW 19 36,711,011 (GRCm39) missense probably damaging 1.00
R2228:Ppp1r3c UTSW 19 36,711,098 (GRCm39) missense probably benign
R2229:Ppp1r3c UTSW 19 36,711,098 (GRCm39) missense probably benign
R4534:Ppp1r3c UTSW 19 36,711,522 (GRCm39) missense probably damaging 1.00
R4619:Ppp1r3c UTSW 19 36,711,743 (GRCm39) missense possibly damaging 0.94
R4630:Ppp1r3c UTSW 19 36,710,915 (GRCm39) missense probably benign 0.02
R6015:Ppp1r3c UTSW 19 36,711,206 (GRCm39) missense probably damaging 1.00
R8206:Ppp1r3c UTSW 19 36,710,846 (GRCm39) missense probably benign 0.10
R8386:Ppp1r3c UTSW 19 36,711,338 (GRCm39) missense probably damaging 1.00
R8966:Ppp1r3c UTSW 19 36,711,736 (GRCm39) missense probably benign 0.04
R9540:Ppp1r3c UTSW 19 36,711,461 (GRCm39) missense probably benign 0.30
R9629:Ppp1r3c UTSW 19 36,711,404 (GRCm39) missense probably benign 0.01
Z1177:Ppp1r3c UTSW 19 36,711,318 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- GTTCTTCTGAAAGCGGTCCC -3'
(R):5'- GGACATGGCCATGAGGATTTG -3'

Sequencing Primer
(F):5'- CGGTCCCGGAAACTTAAGTAGTC -3'
(R):5'- GAGGATTTGCTTGGCTCATTCACC -3'
Posted On 2015-08-18