Incidental Mutation 'R8206:Ppp1r3c'
ID 635941
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
MMRRC Submission 067629-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8206 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 36709131-36714004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 36710846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 308 (G308E)
Ref Sequence ENSEMBL: ENSMUSP00000084578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087321]
AlphaFold Q7TMB3
Predicted Effect probably benign
Transcript: ENSMUST00000087321
AA Change: G308E

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000084578
Gene: ENSMUSG00000067279
AA Change: G308E

DomainStartEndE-ValueType
low complexity region 115 128 N/A INTRINSIC
Pfam:CBM_21 151 257 5.5e-38 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (50/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 A G 10: 88,860,958 (GRCm39) Y342H probably damaging Het
Aqp4 T A 18: 15,526,716 (GRCm39) D255V possibly damaging Het
Arhgap26 C A 18: 39,439,803 (GRCm39) S247* probably null Het
Arid4a A G 12: 71,133,361 (GRCm39) D1154G probably damaging Het
Atpaf2 A G 11: 60,295,304 (GRCm39) I182T probably damaging Het
Cacna1i C A 15: 80,274,016 (GRCm39) probably null Het
Ccdc38 A G 10: 93,399,146 (GRCm39) S205G probably damaging Het
Cep63 A G 9: 102,498,470 (GRCm39) probably benign Het
Cripto G A 9: 110,773,352 (GRCm39) probably benign Het
Cyp24a1 T C 2: 170,333,589 (GRCm39) T255A possibly damaging Het
Dlg5 A G 14: 24,210,336 (GRCm39) S787P possibly damaging Het
Dnah6 A T 6: 73,014,549 (GRCm39) C3679* probably null Het
Dpy19l3 T C 7: 35,429,155 (GRCm39) Y95C probably damaging Het
Erc2 G A 14: 28,024,972 (GRCm39) probably null Het
Ezh2 A T 6: 47,509,834 (GRCm39) probably null Het
Fgfr1 A G 8: 26,060,258 (GRCm39) T463A probably damaging Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Fsip2 T C 2: 82,820,808 (GRCm39) S5514P possibly damaging Het
Glrb A G 3: 80,758,373 (GRCm39) Y347H probably damaging Het
Gm14325 C A 2: 177,474,767 (GRCm39) C105F probably damaging Het
Hgsnat T C 8: 26,444,665 (GRCm39) T428A probably damaging Het
Ighv1-76 T C 12: 115,811,934 (GRCm39) M1V probably null Het
Inppl1 A G 7: 101,472,783 (GRCm39) I1207T possibly damaging Het
Kmt2c T A 5: 25,519,537 (GRCm39) Q2191L probably damaging Het
Krt79 T A 15: 101,848,705 (GRCm39) probably null Het
Mast4 G A 13: 102,872,247 (GRCm39) L2374F probably damaging Het
Mgam A G 6: 40,657,169 (GRCm39) N951S probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naip6 A T 13: 100,431,344 (GRCm39) C1164* probably null Het
Nfatc2ip G T 7: 125,989,906 (GRCm39) D189E probably damaging Het
Nrp1 A G 8: 129,184,438 (GRCm39) D361G probably damaging Het
Nrp2 T C 1: 62,786,374 (GRCm39) I293T probably damaging Het
Pate5 A T 9: 35,750,719 (GRCm39) F34L possibly damaging Het
Pde3a T C 6: 141,433,611 (GRCm39) V831A probably damaging Het
Pirb A G 7: 3,715,905 (GRCm39) probably null Het
Plch1 G T 3: 63,610,047 (GRCm39) probably null Het
Plekhh2 A G 17: 84,898,277 (GRCm39) T973A possibly damaging Het
Ppp1r35 T A 5: 137,778,296 (GRCm39) I97K unknown Het
Prss12 G A 3: 123,258,611 (GRCm39) probably null Het
Rad51b A G 12: 79,361,715 (GRCm39) D142G probably damaging Het
Slc13a3 C T 2: 165,248,745 (GRCm39) G553D probably damaging Het
Spata31d1d A C 13: 59,879,344 (GRCm39) V64G probably benign Het
Srp68 G A 11: 116,164,809 (GRCm39) R42C probably damaging Het
Syne2 T C 12: 76,062,365 (GRCm39) V4229A probably benign Het
Tas2r144 G A 6: 42,192,325 (GRCm39) V22M probably damaging Het
Tcf7l1 A G 6: 72,604,395 (GRCm39) L583P probably damaging Het
Tdrd3 A G 14: 87,749,214 (GRCm39) D708G probably benign Het
Tns4 A T 11: 98,976,627 (GRCm39) L98Q probably damaging Het
Zfp677 T A 17: 21,612,717 (GRCm39) probably null 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
R4535: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
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'- AACAAAGCTGGTGGCATCAC -3'
(R):5'- TCTGGGACAACAATGAGGGTC -3'

Sequencing Primer
(F):5'- ACAATGAATTCTCAAGTAGCTATAGC -3'
(R):5'- GGGTCAGAATTACAGAATTGTCC -3'
Posted On 2020-07-13