Incidental Mutation 'IGL03326:Ppp1r1c'
ID416639
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r1c
Ensembl Gene ENSMUSG00000034683
Gene Nameprotein phosphatase 1, regulatory (inhibitor) subunit 1C
Synonyms4930565M23Rik, 4930579P15Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.105) question?
Stock #IGL03326
Quality Score
Status
Chromosome2
Chromosomal Location79707780-79818496 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 79808383 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 107 (N107I)
Ref Sequence ENSEMBL: ENSMUSP00000088265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040863] [ENSMUST00000090760] [ENSMUST00000111780]
Predicted Effect probably benign
Transcript: ENSMUST00000040863
AA Change: N75I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000042784
Gene: ENSMUSG00000034683
AA Change: N75I

DomainStartEndE-ValueType
Pfam:DARPP-32 1 75 2.4e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090760
AA Change: N107I

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000088265
Gene: ENSMUSG00000034683
AA Change: N107I

DomainStartEndE-ValueType
Pfam:DARPP-32 2 108 1.2e-33 PFAM
Predicted Effect probably benign
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144432
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 A G 5: 8,127,421 S563P probably damaging Het
Adamtsl1 A T 4: 86,252,748 probably benign Het
Ampd2 T A 3: 108,079,287 Y227F probably benign Het
Cyp2c67 A T 19: 39,643,269 probably null Het
Gk5 G A 9: 96,137,839 probably null Het
Gm20422 T C 8: 69,766,698 T59A possibly damaging Het
Gria1 A T 11: 57,317,773 K831N probably damaging Het
Hspa5 C A 2: 34,776,117 probably benign Het
Igtp A G 11: 58,206,228 D75G probably benign Het
Jmjd8 T C 17: 25,829,165 probably null Het
Kcnh2 A T 5: 24,326,413 F158Y probably damaging Het
Kmt2a A T 9: 44,818,747 C456* probably null Het
Krtap5-2 A T 7: 142,175,363 C193* probably null Het
Mrpl2 T C 17: 46,649,927 V249A possibly damaging Het
Obscn A T 11: 59,032,902 I6433N probably damaging Het
Olfr1137 A C 2: 87,711,695 D70E probably damaging Het
Olfr243 T A 7: 103,716,862 F89L probably benign Het
Olfr487 T C 7: 108,211,630 I300V probably benign Het
Plb1 C T 5: 32,331,327 T985I probably benign Het
Polr3b T C 10: 84,667,395 I392T probably benign Het
Ppp1r3a C T 6: 14,719,766 R383Q probably damaging Het
Ptpre T C 7: 135,672,817 I499T probably damaging Het
Rapgef2 A G 3: 79,091,833 I544T probably damaging Het
Rbm20 A T 19: 53,814,000 Q313L possibly damaging Het
Rnf38 A T 4: 44,149,182 I55N probably benign Het
Rtel1 T C 2: 181,355,561 probably benign Het
Scube1 T C 15: 83,607,416 Y959C probably damaging Het
Selenow A G 7: 15,920,126 probably benign Het
Tbx5 T C 5: 119,871,298 Y291H probably damaging Het
Tln2 A T 9: 67,334,257 M1022K possibly damaging Het
Tmtc4 G A 14: 122,945,540 R249W probably damaging Het
Trim34a A G 7: 104,261,380 Q463R probably benign Het
Vps35 C A 8: 85,274,897 E431* probably null Het
Wdpcp T C 11: 21,885,048 C684R probably benign Het
Xirp2 G A 2: 67,482,246 V20I probably benign Het
Other mutations in Ppp1r1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00816:Ppp1r1c APN 2 79709897 critical splice acceptor site probably null
R4453:Ppp1r1c UTSW 2 79708231 missense possibly damaging 0.79
R5936:Ppp1r1c UTSW 2 79756454 missense possibly damaging 0.77
R6149:Ppp1r1c UTSW 2 79756466 missense possibly damaging 0.87
Posted On2016-08-02