Incidental Mutation 'IGL03326:Ppp1r1c'
ID 416639
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: 0.073) question?
Stock # IGL03326
Quality Score
Status
Chromosome 2
Chromosomal Location 79538124-79648840 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79638727 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8BKK4
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: 8,177,421 (GRCm39) S563P probably damaging Het
Adamtsl1 A T 4: 86,170,985 (GRCm39) probably benign Het
Ampd2 T A 3: 107,986,603 (GRCm39) Y227F probably benign Het
Cyp2c67 A T 19: 39,631,713 (GRCm39) probably null Het
Gk5 G A 9: 96,019,892 (GRCm39) probably null Het
Gm20422 T C 8: 70,219,348 (GRCm39) T59A possibly damaging Het
Gria1 A T 11: 57,208,599 (GRCm39) K831N probably damaging Het
Hspa5 C A 2: 34,666,129 (GRCm39) probably benign Het
Igtp A G 11: 58,097,054 (GRCm39) D75G probably benign Het
Jmjd8 T C 17: 26,048,139 (GRCm39) probably null Het
Kcnh2 A T 5: 24,531,411 (GRCm39) F158Y probably damaging Het
Kmt2a A T 9: 44,730,044 (GRCm39) C456* probably null Het
Krtap5-2 A T 7: 141,729,100 (GRCm39) C193* probably null Het
Mrpl2 T C 17: 46,960,853 (GRCm39) V249A possibly damaging Het
Obscn A T 11: 58,923,728 (GRCm39) I6433N probably damaging Het
Or52a20 T A 7: 103,366,069 (GRCm39) F89L probably benign Het
Or5p63 T C 7: 107,810,837 (GRCm39) I300V probably benign Het
Or5w14 A C 2: 87,542,039 (GRCm39) D70E probably damaging Het
Plb1 C T 5: 32,488,671 (GRCm39) T985I probably benign Het
Polr3b T C 10: 84,503,259 (GRCm39) I392T probably benign Het
Ppp1r3a C T 6: 14,719,765 (GRCm39) R383Q probably damaging Het
Ptpre T C 7: 135,274,546 (GRCm39) I499T probably damaging Het
Rapgef2 A G 3: 78,999,140 (GRCm39) I544T probably damaging Het
Rbm20 A T 19: 53,802,431 (GRCm39) Q313L possibly damaging Het
Rnf38 A T 4: 44,149,182 (GRCm39) I55N probably benign Het
Rtel1 T C 2: 180,997,354 (GRCm39) probably benign Het
Scube1 T C 15: 83,491,617 (GRCm39) Y959C probably damaging Het
Selenow A G 7: 15,654,051 (GRCm39) probably benign Het
Tbx5 T C 5: 120,009,363 (GRCm39) Y291H probably damaging Het
Tln2 A T 9: 67,241,539 (GRCm39) M1022K possibly damaging Het
Tmtc4 G A 14: 123,182,952 (GRCm39) R249W probably damaging Het
Trim34a A G 7: 103,910,587 (GRCm39) Q463R probably benign Het
Vps35 C A 8: 86,001,526 (GRCm39) E431* probably null Het
Wdpcp T C 11: 21,835,048 (GRCm39) C684R probably benign Het
Xirp2 G A 2: 67,312,590 (GRCm39) V20I probably benign Het
Other mutations in Ppp1r1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00816:Ppp1r1c APN 2 79,540,241 (GRCm39) critical splice acceptor site probably null
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 2016-08-02