Incidental Mutation 'IGL00816:Ppp1r1c'
ID 13697
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r1c
Ensembl Gene ENSMUSG00000034683
Gene Name protein phosphatase 1, regulatory inhibitor subunit 1C
Synonyms 4930565M23Rik, 4930579P15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # IGL00816
Quality Score
Status
Chromosome 2
Chromosomal Location 79538124-79648840 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 79540241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040863] [ENSMUST00000090760] [ENSMUST00000111780]
AlphaFold Q8BKK4
Predicted Effect probably null
Transcript: ENSMUST00000040863
SMART Domains Protein: ENSMUSP00000042784
Gene: ENSMUSG00000034683

DomainStartEndE-ValueType
Pfam:DARPP-32 1 75 2.4e-28 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000090760
SMART Domains Protein: ENSMUSP00000088265
Gene: ENSMUSG00000034683

DomainStartEndE-ValueType
Pfam:DARPP-32 2 108 1.2e-33 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000111780
SMART Domains Protein: ENSMUSP00000107410
Gene: ENSMUSG00000034683

DomainStartEndE-ValueType
Pfam:DARPP-32 1 86 7.3e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141978
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein phosphatase-1 (PP1) is a major serine/threonine phosphatase that regulates a variety of cellular functions. PP1 consists of a catalytic subunit (see PPP1CA; MIM 176875) and regulatory subunits that determine the subcellular localization of PP1 or regulate its function. PPP1R1C belongs to a group of PP1 inhibitory subunits that are themselves regulated by phosphorylation (Wang et al., 2008 [PubMed 18310074]).[supplied by OMIM, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,545,322 (GRCm39) D5654E probably benign Het
Alg6 A G 4: 99,630,598 (GRCm39) S146G probably null Het
Anks1 T C 17: 28,278,367 (GRCm39) probably null Het
Bcor T C X: 11,904,059 (GRCm39) I1662V probably damaging Het
Bzw1 T C 1: 58,438,213 (GRCm39) F98L probably damaging Het
Cdc14b A G 13: 64,353,217 (GRCm39) V453A probably benign Het
Copg1 G T 6: 87,870,880 (GRCm39) A228S possibly damaging Het
D1Pas1 A G 1: 186,701,609 (GRCm39) I513V possibly damaging Het
Efemp1 G A 11: 28,876,223 (GRCm39) V463M probably benign Het
Ep400 T A 5: 110,883,356 (GRCm39) probably benign Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
Fgd3 A G 13: 49,418,262 (GRCm39) probably benign Het
Furin C A 7: 80,042,315 (GRCm39) G427W probably damaging Het
Glycam1 T G 15: 103,472,659 (GRCm39) D25A probably damaging Het
Gpr119 A G X: 47,763,047 (GRCm39) L30P probably damaging Het
Gria1 T A 11: 57,208,568 (GRCm39) M752K possibly damaging Het
Mcph1 C T 8: 18,682,413 (GRCm39) P517S possibly damaging Het
Mug1 T A 6: 121,859,597 (GRCm39) Y1199N probably damaging Het
Myt1 A G 2: 181,449,308 (GRCm39) D663G probably damaging Het
Rab1a C T 11: 20,174,727 (GRCm39) T100M possibly damaging Het
Rfx6 A G 10: 51,554,501 (GRCm39) K114R probably benign Het
Rmdn1 T C 4: 19,595,119 (GRCm39) V177A probably benign Het
Setd5 T G 6: 113,088,375 (GRCm39) L168V probably damaging Het
Slc25a10 A T 11: 120,385,976 (GRCm39) probably benign Het
Slc38a7 A T 8: 96,570,748 (GRCm39) I252N probably damaging Het
Slit2 G A 5: 48,146,493 (GRCm39) E95K possibly damaging Het
Taar8c A T 10: 23,977,173 (GRCm39) I213N probably damaging Het
Tagln3 A T 16: 45,544,556 (GRCm39) C38* probably null Het
Tmcc2 C A 1: 132,308,436 (GRCm39) A153S probably benign Het
Tuft1 A T 3: 94,523,138 (GRCm39) I291N probably damaging Het
Vmn2r10 T A 5: 109,150,451 (GRCm39) M198L possibly damaging Het
Vps13d T A 4: 144,882,564 (GRCm39) M1004L probably benign Het
Wfdc3 T C 2: 164,584,945 (GRCm39) probably benign Het
Wfikkn2 G A 11: 94,128,921 (GRCm39) Q407* probably null Het
Zfp106 T C 2: 120,357,329 (GRCm39) I1189V probably benign Het
Zic2 T A 14: 122,715,971 (GRCm39) C364* probably null Het
Other mutations in Ppp1r1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03326:Ppp1r1c APN 2 79,638,727 (GRCm39) missense probably benign 0.18
R4453:Ppp1r1c UTSW 2 79,538,575 (GRCm39) missense possibly damaging 0.79
R5936:Ppp1r1c UTSW 2 79,586,798 (GRCm39) missense possibly damaging 0.77
R6149:Ppp1r1c UTSW 2 79,586,810 (GRCm39) missense possibly damaging 0.87
R9657:Ppp1r1c UTSW 2 79,638,718 (GRCm39) missense probably benign
Posted On 2012-12-06