Incidental Mutation 'IGL02496:Ppm1d'
ID 295845
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppm1d
Ensembl Gene ENSMUSG00000020525
Gene Name protein phosphatase 1D magnesium-dependent, delta isoform
Synonyms Wip1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02496
Quality Score
Status
Chromosome 11
Chromosomal Location 85202080-85237897 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 85230492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 370 (P370L)
Ref Sequence ENSEMBL: ENSMUSP00000020835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020835] [ENSMUST00000127717]
AlphaFold Q9QZ67
Predicted Effect possibly damaging
Transcript: ENSMUST00000020835
AA Change: P370L

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000020835
Gene: ENSMUSG00000020525
AA Change: P370L

DomainStartEndE-ValueType
PP2Cc 1 366 1.4e-76 SMART
PP2C_SIG 78 368 6.09e0 SMART
low complexity region 403 415 N/A INTRINSIC
Blast:PP2Cc 416 476 1e-19 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000127717
SMART Domains Protein: ENSMUSP00000115606
Gene: ENSMUSG00000020525

DomainStartEndE-ValueType
PP2Cc 1 170 2.87e-5 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 a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. The expression of this gene is induced in a p53-dependent manner in response to various environmental stresses. While being induced by tumor suppressor protein TP53/p53, this phosphatase negatively regulates the activity of p38 MAP kinase, MAPK/p38, through which it reduces the phosphorylation of p53, and in turn suppresses p53-mediated transcription and apoptosis. This phosphatase thus mediates a feedback regulation of p38-p53 signaling that contributes to growth inhibition and the suppression of stress induced apoptosis. This gene is located in a chromosomal region known to be amplified in breast cancer. The amplification of this gene has been detected in both breast cancer cell line and primary breast tumors, which suggests a role of this gene in cancer development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null male mice show some embryonic lethality. Surviving males have variable abnormalities including runting, reproductive organ atrophy with associated reduced fertility, and reduced life span. Both genders have increased susceptibility to viral infection and reduced lymphocyte function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T G 1: 71,327,712 (GRCm39) H1456P possibly damaging Het
Abcg1 C A 17: 31,324,578 (GRCm39) H274Q probably damaging Het
Adamts4 G A 1: 171,078,512 (GRCm39) R44Q probably benign Het
Amigo2 A T 15: 97,143,494 (GRCm39) C309* probably null Het
Ccdc88c A C 12: 100,919,552 (GRCm39) S446A probably benign Het
Cd9 A T 6: 125,449,458 (GRCm39) V28E probably damaging Het
Cops2 A T 2: 125,678,163 (GRCm39) probably benign Het
Csn1s1 C T 5: 87,825,453 (GRCm39) probably benign Het
Cul9 G T 17: 46,851,302 (GRCm39) R373S possibly damaging Het
D630045J12Rik G T 6: 38,126,640 (GRCm39) H1457N probably damaging Het
Dennd2b C A 7: 109,155,442 (GRCm39) R436L possibly damaging Het
Dnah9 A G 11: 65,920,189 (GRCm39) S2235P probably damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fbxo10 A T 4: 45,043,883 (GRCm39) W647R probably damaging Het
Flnb T A 14: 7,930,919 (GRCm38) probably benign Het
Flnc G T 6: 29,440,684 (GRCm39) V301L probably damaging Het
Hfm1 T C 5: 107,049,627 (GRCm39) S445G probably benign Het
Hif3a A G 7: 16,773,603 (GRCm39) probably benign Het
Hsd17b4 T C 18: 50,288,220 (GRCm39) Y217H probably damaging Het
Iba57 T C 11: 59,049,772 (GRCm39) T192A probably benign Het
Igkv5-48 A T 6: 69,703,671 (GRCm39) I78N probably damaging Het
Inhbe A T 10: 127,186,797 (GRCm39) W128R probably damaging Het
Ism1 T C 2: 139,599,121 (GRCm39) C365R probably damaging Het
Kif19a A T 11: 114,670,470 (GRCm39) T127S probably damaging Het
Kmt2d C A 15: 98,755,439 (GRCm39) probably benign Het
Mmp20 A G 9: 7,654,042 (GRCm39) R321G probably damaging Het
Msl2 T C 9: 100,977,854 (GRCm39) M76T possibly damaging Het
Nme9 T C 9: 99,351,684 (GRCm39) C223R probably damaging Het
Nucb1 G T 7: 45,144,467 (GRCm39) probably benign Het
Ocrl G A X: 47,022,315 (GRCm39) D262N probably benign Het
Or13a18 A C 7: 140,190,081 (GRCm39) M1L probably benign Het
Or5b98 T A 19: 12,931,556 (GRCm39) I201N possibly damaging Het
Or6b1 A C 6: 42,815,738 (GRCm39) I308L probably benign Het
P4ha1 A G 10: 59,206,824 (GRCm39) probably null Het
Parp8 T C 13: 116,998,838 (GRCm39) probably benign Het
Pcdhb6 A G 18: 37,468,507 (GRCm39) D476G probably damaging Het
Pikfyve A G 1: 65,303,535 (GRCm39) E1685G possibly damaging Het
Plod2 T A 9: 92,489,147 (GRCm39) L714Q probably damaging Het
Plscr2 A G 9: 92,171,716 (GRCm39) I103V probably benign Het
Plscr3 C A 11: 69,738,209 (GRCm39) probably benign Het
Pmaip1 A G 18: 66,596,370 (GRCm39) R80G probably damaging Het
Prr36 C A 8: 4,266,407 (GRCm39) E48* probably null Het
Ptgir G A 7: 16,641,409 (GRCm39) V234I possibly damaging Het
Ptk7 A T 17: 46,901,070 (GRCm39) V219E probably benign Het
Rab39b T A X: 74,618,609 (GRCm39) I74F probably damaging Het
Rasal2 A T 1: 156,977,449 (GRCm39) M1075K possibly damaging Het
Rpl37a G A 1: 72,750,885 (GRCm39) A20T probably null Het
Serpinb10 A C 1: 107,466,155 (GRCm39) probably null Het
Sipa1l1 T A 12: 82,471,868 (GRCm39) Y1283N probably damaging Het
Slc22a23 T A 13: 34,528,468 (GRCm39) I105F possibly damaging Het
Slc25a20 T A 9: 108,559,599 (GRCm39) I221N probably damaging Het
Smarcal1 A T 1: 72,659,247 (GRCm39) H691L probably damaging Het
Smo A C 6: 29,758,480 (GRCm39) T542P probably damaging Het
Spats2 T A 15: 99,071,329 (GRCm39) I51N probably damaging Het
Spon1 G T 7: 113,635,897 (GRCm39) V704L probably benign Het
Tex9 T A 9: 72,389,774 (GRCm39) Q112L probably benign Het
Tgfbr2 T C 9: 115,919,486 (GRCm39) E580G probably benign Het
Top2b T A 14: 16,387,335 (GRCm38) V141E probably benign Het
Trhde A T 10: 114,636,466 (GRCm39) L247* probably null Het
Umodl1 G T 17: 31,217,628 (GRCm39) V1145F probably damaging Het
Vasp C A 7: 18,992,748 (GRCm39) probably benign Het
Vmn1r8 G T 6: 57,013,556 (GRCm39) L202F probably damaging Het
Vmn2r111 T C 17: 22,787,837 (GRCm39) T505A probably benign Het
Wdr27 A G 17: 15,112,693 (GRCm39) probably benign Het
Wfdc1 T G 8: 120,406,909 (GRCm39) V109G probably damaging Het
Zan C A 5: 137,463,056 (GRCm39) E708* probably null Het
Zbtb1 T A 12: 76,432,169 (GRCm39) F52I possibly damaging Het
Zfp236 A G 18: 82,648,117 (GRCm39) S1015P probably damaging Het
Zfp532 T C 18: 65,757,113 (GRCm39) S349P probably damaging Het
Znfx1 A T 2: 166,889,550 (GRCm39) C731S possibly damaging Het
Other mutations in Ppm1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02095:Ppm1d APN 11 85,217,832 (GRCm39) missense probably benign 0.04
IGL02351:Ppm1d APN 11 85,236,541 (GRCm39) missense probably damaging 0.99
IGL02358:Ppm1d APN 11 85,236,541 (GRCm39) missense probably damaging 0.99
IGL02667:Ppm1d APN 11 85,223,111 (GRCm39) missense probably damaging 1.00
IGL02885:Ppm1d APN 11 85,217,770 (GRCm39) missense possibly damaging 0.52
IGL03085:Ppm1d APN 11 85,227,989 (GRCm39) missense probably null 0.80
R0114:Ppm1d UTSW 11 85,217,731 (GRCm39) missense probably damaging 1.00
R0606:Ppm1d UTSW 11 85,236,703 (GRCm39) missense probably benign 0.27
R1014:Ppm1d UTSW 11 85,227,980 (GRCm39) missense probably damaging 0.98
R1548:Ppm1d UTSW 11 85,230,431 (GRCm39) missense probably damaging 1.00
R3774:Ppm1d UTSW 11 85,227,993 (GRCm39) missense probably damaging 1.00
R3775:Ppm1d UTSW 11 85,227,993 (GRCm39) missense probably damaging 1.00
R4025:Ppm1d UTSW 11 85,236,583 (GRCm39) missense probably benign 0.09
R4065:Ppm1d UTSW 11 85,236,678 (GRCm39) missense probably benign 0.01
R4067:Ppm1d UTSW 11 85,236,678 (GRCm39) missense probably benign 0.01
R4118:Ppm1d UTSW 11 85,202,408 (GRCm39) missense probably benign 0.01
R5169:Ppm1d UTSW 11 85,223,196 (GRCm39) missense probably damaging 1.00
R5384:Ppm1d UTSW 11 85,202,609 (GRCm39) missense probably damaging 0.98
R5861:Ppm1d UTSW 11 85,202,674 (GRCm39) missense possibly damaging 0.70
R5890:Ppm1d UTSW 11 85,217,734 (GRCm39) missense probably damaging 1.00
R6394:Ppm1d UTSW 11 85,230,498 (GRCm39) missense probably benign
R6992:Ppm1d UTSW 11 85,223,178 (GRCm39) missense probably damaging 1.00
R7006:Ppm1d UTSW 11 85,227,977 (GRCm39) missense possibly damaging 0.92
R7297:Ppm1d UTSW 11 85,236,821 (GRCm39) missense probably damaging 1.00
R7993:Ppm1d UTSW 11 85,217,777 (GRCm39) missense probably damaging 1.00
R8099:Ppm1d UTSW 11 85,230,492 (GRCm39) missense possibly damaging 0.51
R8697:Ppm1d UTSW 11 85,227,986 (GRCm39) missense possibly damaging 0.95
R8738:Ppm1d UTSW 11 85,236,732 (GRCm39) missense probably damaging 0.99
R9018:Ppm1d UTSW 11 85,227,961 (GRCm39) missense probably damaging 0.98
R9188:Ppm1d UTSW 11 85,236,747 (GRCm39) missense possibly damaging 0.93
Z1176:Ppm1d UTSW 11 85,230,399 (GRCm39) missense probably benign 0.09
Z1177:Ppm1d UTSW 11 85,217,789 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16