Incidental Mutation 'IGL02351:Ppm1d'
ID 289485
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 # IGL02351
Quality Score
Status
Chromosome 11
Chromosomal Location 85202080-85237897 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85236541 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 440 (E440V)
Ref Sequence ENSEMBL: ENSMUSP00000020835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020835]
AlphaFold Q9QZ67
Predicted Effect probably damaging
Transcript: ENSMUST00000020835
AA Change: E440V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020835
Gene: ENSMUSG00000020525
AA Change: E440V

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
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,474,418 (GRCm39) T448A possibly damaging Het
Adamtsl1 T A 4: 86,075,110 (GRCm39) probably null Het
Adgra3 A G 5: 50,215,900 (GRCm39) V73A probably benign Het
Aggf1 T C 13: 95,489,358 (GRCm39) probably benign Het
Aktip C T 8: 91,853,520 (GRCm39) V96I possibly damaging Het
Atm A G 9: 53,433,476 (GRCm39) I258T probably benign Het
Baz1b C T 5: 135,273,160 (GRCm39) T1428I probably damaging Het
C3ar1 A T 6: 122,826,934 (GRCm39) Y428N probably damaging Het
Cadps A G 14: 12,597,380 (GRCm38) S437P probably damaging Het
Car4 C T 11: 84,856,593 (GRCm39) P294S probably damaging Het
Cenpq A G 17: 41,235,223 (GRCm39) L213P probably damaging Het
Cept1 A G 3: 106,446,504 (GRCm39) probably null Het
Cln6 A G 9: 62,754,407 (GRCm39) I150V probably benign Het
Cyb5r3 T C 15: 83,045,136 (GRCm39) T94A probably benign Het
Cyp2c67 A G 19: 39,605,861 (GRCm39) M345T probably damaging Het
Dapk2 T A 9: 66,153,805 (GRCm39) I187N probably damaging Het
Dkk2 A G 3: 131,883,673 (GRCm39) D191G probably benign Het
Dnah8 T A 17: 30,986,785 (GRCm39) F3145I probably damaging Het
Dock1 A C 7: 134,710,548 (GRCm39) D1190A possibly damaging Het
Ehhadh T A 16: 21,581,620 (GRCm39) L457F probably damaging Het
Ercc6l2 T C 13: 64,001,497 (GRCm39) L552P probably damaging Het
Ghrhr T G 6: 55,361,138 (GRCm39) I284S probably damaging Het
Gm10288 A T 3: 146,544,954 (GRCm39) noncoding transcript Het
Gp6 T G 7: 4,397,507 (GRCm39) I19L probably benign Het
Gria4 G A 9: 4,456,206 (GRCm39) S698L possibly damaging Het
Ifng A T 10: 118,278,410 (GRCm39) I53F possibly damaging Het
Kazn A C 4: 141,874,327 (GRCm39) probably null Het
Khk A T 5: 31,085,848 (GRCm39) I136F probably damaging Het
Lnx1 T A 5: 74,788,027 (GRCm39) N98Y probably damaging Het
Lsp1 T C 7: 142,042,679 (GRCm39) probably null Het
Lta4h A T 10: 93,314,329 (GRCm39) N467I probably benign Het
Mcmbp C A 7: 128,311,505 (GRCm39) probably null Het
Me2 A T 18: 73,931,038 (GRCm39) I85K probably benign Het
Muc4 C T 16: 32,569,804 (GRCm39) T288I possibly damaging Het
Nadsyn1 A T 7: 143,353,649 (GRCm39) Y525N probably damaging Het
Nt5e G A 9: 88,209,946 (GRCm39) V70M probably damaging Het
Or52e4 G A 7: 104,706,182 (GRCm39) G243D probably damaging Het
Or8b36 A T 9: 37,937,332 (GRCm39) I77L possibly damaging Het
Or9k7 T G 10: 130,046,603 (GRCm39) Y132S probably damaging Het
Pkd1l3 A G 8: 110,373,129 (GRCm39) probably benign Het
Pramel32 A T 4: 88,546,127 (GRCm39) I405N probably damaging Het
Ripor2 A T 13: 24,915,572 (GRCm39) E1047D probably damaging Het
Rwdd2b G A 16: 87,234,336 (GRCm39) A18V probably benign Het
Serpina5 G T 12: 104,068,384 (GRCm39) K148N probably damaging Het
Setx A G 2: 29,036,976 (GRCm39) K1154E probably benign Het
Skap1 T A 11: 96,599,382 (GRCm39) probably null Het
Spcs2 T C 7: 99,498,241 (GRCm39) K81R probably damaging Het
Stt3b T A 9: 115,079,975 (GRCm39) M646L possibly damaging Het
Suco T C 1: 161,646,195 (GRCm39) T1169A probably benign Het
Susd1 A T 4: 59,427,985 (GRCm39) Y66* probably null Het
Trim34a T A 7: 103,910,441 (GRCm39) C414* probably null Het
Trim58 G A 11: 58,542,176 (GRCm39) G379S probably damaging Het
Vmn2r50 T A 7: 9,787,002 (GRCm39) Q35L probably benign Het
Zfp418 T C 7: 7,177,690 (GRCm39) probably benign Het
Zfp57 G A 17: 37,320,919 (GRCm39) V258I probably benign Het
Zng1 A T 19: 24,909,026 (GRCm39) probably null Het
Other mutations in Ppm1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02095:Ppm1d APN 11 85,217,832 (GRCm39) missense probably benign 0.04
IGL02358:Ppm1d APN 11 85,236,541 (GRCm39) missense probably damaging 0.99
IGL02496:Ppm1d APN 11 85,230,492 (GRCm39) missense possibly damaging 0.51
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