Incidental Mutation 'R4453:Ppp1r1c'
ID 329036
Institutional Source Beutler Lab
Gene Symbol Ppp1r1c
Ensembl Gene ENSMUSG00000034683
Gene Name protein phosphatase 1, regulatory inhibitor subunit 1C
Synonyms 4930565M23Rik, 4930579P15Rik
MMRRC Submission 041152-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R4453 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 79538124-79648840 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79538575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 20 (I20V)
Ref Sequence ENSEMBL: ENSMUSP00000107410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040863] [ENSMUST00000090760] [ENSMUST00000111780]
AlphaFold Q8BKK4
Predicted Effect possibly damaging
Transcript: ENSMUST00000040863
AA Change: I20V

PolyPhen 2 Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000042784
Gene: ENSMUSG00000034683
AA Change: I20V

DomainStartEndE-ValueType
Pfam:DARPP-32 1 75 2.4e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000090760
AA Change: I20V

PolyPhen 2 Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000088265
Gene: ENSMUSG00000034683
AA Change: I20V

DomainStartEndE-ValueType
Pfam:DARPP-32 2 108 1.2e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111780
AA Change: I20V

PolyPhen 2 Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107410
Gene: ENSMUSG00000034683
AA Change: I20V

DomainStartEndE-ValueType
Pfam:DARPP-32 1 86 7.3e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141978
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano7 A G 1: 93,322,075 (GRCm39) D361G probably damaging Het
Atp10a TGGCGGCGGC TGGCGGC 7: 58,308,248 (GRCm39) probably benign Het
Ccdc86 G T 19: 10,925,883 (GRCm39) P239T probably damaging Het
Ces2h G A 8: 105,741,288 (GRCm39) probably null Het
Ckap5 T A 2: 91,379,190 (GRCm39) S43R probably damaging Het
Cpne6 G A 14: 55,750,054 (GRCm39) V62M probably damaging Het
Dmbt1 T C 7: 130,642,664 (GRCm39) C161R probably damaging Het
Dnajc10 T C 2: 80,176,967 (GRCm39) S641P probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Grm2 G A 9: 106,531,078 (GRCm39) T137I probably damaging Het
Gusb A G 5: 130,027,324 (GRCm39) V327A possibly damaging Het
Helz C T 11: 107,563,455 (GRCm39) Q1631* probably null Het
Hspa1a A G 17: 35,189,269 (GRCm39) Y545H probably benign Het
Hus1 A T 11: 8,956,035 (GRCm39) M166K probably damaging Het
Kcnh1 C A 1: 192,187,825 (GRCm39) T762K probably damaging Het
Limd1 C A 9: 123,309,359 (GRCm39) Q353K possibly damaging Het
Lipe T A 7: 25,097,115 (GRCm39) K276I probably damaging Het
Ntpcr G A 8: 126,462,929 (GRCm39) V49I probably benign Het
Or6c70 T C 10: 129,710,530 (GRCm39) N32S probably null Het
Prdm13 G T 4: 21,679,464 (GRCm39) A342E unknown Het
Prkd3 C A 17: 79,290,975 (GRCm39) R180L probably damaging Het
Prune2 T C 19: 17,099,274 (GRCm39) F1593L probably benign Het
Rims2 T A 15: 39,155,603 (GRCm39) C95S probably damaging Het
Stard9 A G 2: 120,528,272 (GRCm39) M1510V probably benign Het
Taf12 A G 4: 132,010,306 (GRCm39) I92V probably benign Het
Tma16 C T 8: 66,936,823 (GRCm39) probably null Het
Tssk5 G A 15: 76,258,743 (GRCm39) R48C probably benign Het
Wwtr1 T C 3: 57,482,680 (GRCm39) probably null Het
Zfp286 C G 11: 62,671,030 (GRCm39) G348R probably damaging Het
Zfp473 T A 7: 44,382,678 (GRCm39) T552S probably damaging Het
Zzef1 T C 11: 72,763,465 (GRCm39) F1371L probably benign Het
Other mutations in Ppp1r1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00816:Ppp1r1c APN 2 79,540,241 (GRCm39) critical splice acceptor site probably null
IGL03326:Ppp1r1c APN 2 79,638,727 (GRCm39) missense probably benign 0.18
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
Predicted Primers PCR Primer
(F):5'- ACTTGCTCACGCTGGAATTAC -3'
(R):5'- AGCCAATTGTTCCCCAGTTC -3'

Sequencing Primer
(F):5'- ACGCTGGAATTACAGAGATTTATTAC -3'
(R):5'- GTTCACCCCAAACACGAGTG -3'
Posted On 2015-07-21