Incidental Mutation 'IGL02295:Ppp1ca'
ID 290158
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1ca
Ensembl Gene ENSMUSG00000040385
Gene Name protein phosphatase 1 catalytic subunit alpha
Synonyms Ppp1c, dism2
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # IGL02295
Quality Score
Status
Chromosome 19
Chromosomal Location 4242173-4245418 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 4244481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 180 (L180*)
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 null
Transcript: ENSMUST00000046094
AA Change: L180*
SMART Domains Protein: ENSMUSP00000039109
Gene: ENSMUSG00000040385
AA Change: L180*

DomainStartEndE-ValueType
PP2Ac 30 300 1.4e-164 SMART
Coding Region Coverage
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: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411K16Rik A G 19: 42,041,394 (GRCm39) N175S possibly damaging Het
Adam20 A T 8: 41,249,873 (GRCm39) N661I probably damaging Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Or51f1 T A 7: 102,506,031 (GRCm39) M153L probably benign Het
Or6c1b T A 10: 129,272,903 (GRCm39) V74D possibly damaging Het
Pdlim2 T A 14: 70,403,532 (GRCm39) probably benign Het
Phtf2 T C 5: 21,012,428 (GRCm39) D49G probably damaging Het
Prdm10 T C 9: 31,273,664 (GRCm39) V1027A probably benign Het
Slc38a10 T C 11: 120,007,684 (GRCm39) probably benign Het
Tlr1 A T 5: 65,083,290 (GRCm39) L429* probably null Het
Vmn1r172 A T 7: 23,359,342 (GRCm39) T76S probably benign Het
Vps13a A G 19: 16,692,406 (GRCm39) probably benign 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
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
R5131:Ppp1ca UTSW 19 4,244,895 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16