Incidental Mutation 'R5131:Ppp1ca'
ID 395024
Institutional Source Beutler Lab
Gene Symbol Ppp1ca
Ensembl Gene ENSMUSG00000040385
Gene Name protein phosphatase 1 catalytic subunit alpha
Synonyms Ppp1c, dism2
MMRRC Submission 042719-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R5131 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 4242173-4245418 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 4244895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 291 (C291Y)
Ref Sequence ENSEMBL: ENSMUSP00000039109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025740] [ENSMUST00000045864] [ENSMUST00000046094]
AlphaFold P62137
Predicted Effect probably benign
Transcript: ENSMUST00000025740
SMART Domains Protein: ENSMUSP00000025740
Gene: ENSMUSG00000024824

DomainStartEndE-ValueType
Pfam:Rad9 13 265 6.6e-101 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000045864
SMART Domains Protein: ENSMUSP00000042660
Gene: ENSMUSG00000040247

DomainStartEndE-ValueType
low complexity region 5 28 N/A INTRINSIC
TBC 87 301 7.1e-61 SMART
low complexity region 393 408 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000046094
AA Change: C291Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039109
Gene: ENSMUSG00000040385
AA Change: C291Y

DomainStartEndE-ValueType
PP2Ac 30 300 1.4e-164 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Increased PP1 activity has been observed in the end stage of heart failure. Studies in both human and mice suggest that PP1 is an important regulator of cardiac function. Mouse studies also suggest that PP1 functions as a suppressor of learning and memory. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 C T 4: 40,163,797 (GRCm39) P17S probably benign Het
Arhgap35 A G 7: 16,245,112 (GRCm39) probably null Het
Brd3 A T 2: 27,343,427 (GRCm39) N480K probably benign Het
Ccnk T C 12: 108,168,890 (GRCm39) probably benign Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdh1 T C 8: 107,390,430 (GRCm39) V590A possibly damaging Het
Cert1 A G 13: 96,751,343 (GRCm39) D331G probably damaging Het
Cic TCCCCC TCCCCCCCC 7: 24,991,095 (GRCm39) probably benign Het
Cmklr2 T A 1: 63,222,840 (GRCm39) S132C probably damaging Het
Cyp4a12a T A 4: 115,185,017 (GRCm39) D399E possibly damaging Het
Dnah11 A C 12: 117,918,486 (GRCm39) Y3482D probably damaging Het
Gtf3c3 A T 1: 54,458,657 (GRCm39) probably null Het
Gzmk G T 13: 113,310,482 (GRCm39) A73E probably benign Het
Hnrnpul1 A G 7: 25,426,219 (GRCm39) V444A probably benign Het
Lgr4 T C 2: 109,842,678 (GRCm39) S864P probably benign Het
Lrp2 A T 2: 69,260,686 (GRCm39) V4515E possibly damaging Het
Map3k19 A T 1: 127,751,427 (GRCm39) N641K possibly damaging Het
Mesp2 A G 7: 79,461,475 (GRCm39) T267A possibly damaging Het
Mipep T C 14: 61,140,823 (GRCm39) L682P probably damaging Het
Nalcn G T 14: 123,753,182 (GRCm39) T268K probably damaging Het
Ncam2 T C 16: 81,234,550 (GRCm39) V135A probably benign Het
Ndufaf6 G T 4: 11,060,931 (GRCm39) T215K probably damaging Het
Nr1h4 T C 10: 89,319,317 (GRCm39) D183G probably damaging Het
Pate9 C T 9: 36,446,242 (GRCm39) A57T possibly damaging Het
Pax2 G T 19: 44,749,394 (GRCm39) V41L probably damaging Het
Pde4dip T A 3: 97,616,830 (GRCm39) N1804I probably damaging Het
Phtf2 A T 5: 20,979,050 (GRCm39) V526E probably damaging Het
Prag1 G T 8: 36,607,123 (GRCm39) G955C probably damaging Het
Psap T A 10: 60,135,736 (GRCm39) V394E possibly damaging Het
Rap1b C T 10: 117,660,516 (GRCm39) V14I probably damaging Het
Rnf181 G A 6: 72,337,811 (GRCm39) probably null Het
Rsbn1l G A 5: 21,101,243 (GRCm39) R766C possibly damaging Het
Rusc2 C T 4: 43,414,948 (GRCm39) P85S probably benign Het
Rxfp1 T C 3: 79,559,471 (GRCm39) probably null Het
Serpinb6a T A 13: 34,102,855 (GRCm39) M202L probably benign Het
Snd1 T C 6: 28,885,049 (GRCm39) F800S probably damaging Het
Tbc1d2b G A 9: 90,091,812 (GRCm39) T830I probably damaging Het
Tmem209 A T 6: 30,497,166 (GRCm39) N183K probably benign Het
Tmtc3 T C 10: 100,284,841 (GRCm39) D598G probably damaging Het
Ube3b A G 5: 114,545,607 (GRCm39) D622G probably damaging Het
Zbtb43 A T 2: 33,344,778 (GRCm39) M112K probably damaging Het
Other mutations in Ppp1ca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Ppp1ca APN 19 4,243,143 (GRCm39) missense probably benign 0.25
IGL00834:Ppp1ca APN 19 4,244,519 (GRCm39) missense probably benign 0.20
IGL01017:Ppp1ca APN 19 4,243,110 (GRCm39) missense probably damaging 0.96
IGL02150:Ppp1ca APN 19 4,244,698 (GRCm39) splice site probably benign
IGL02295:Ppp1ca APN 19 4,244,481 (GRCm39) nonsense probably null
R0022:Ppp1ca UTSW 19 4,244,580 (GRCm39) missense possibly damaging 0.51
R0022:Ppp1ca UTSW 19 4,244,580 (GRCm39) missense possibly damaging 0.51
R2680:Ppp1ca UTSW 19 4,244,594 (GRCm39) missense possibly damaging 0.81
R3978:Ppp1ca UTSW 19 4,242,253 (GRCm39) missense probably benign 0.05
R4514:Ppp1ca UTSW 19 4,245,054 (GRCm39) missense probably benign
R7606:Ppp1ca UTSW 19 4,243,088 (GRCm39) missense possibly damaging 0.94
R9413:Ppp1ca UTSW 19 4,244,897 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GACCTCATCTGCAGAGCACATC -3'
(R):5'- ACATGGAGGCTATTTCTTGGC -3'

Sequencing Primer
(F):5'- CACATCAGGTGGGCTGGTG -3'
(R):5'- CTATTTCTTGGCTTTGGCAGAATTG -3'
Posted On 2016-06-21