Incidental Mutation 'R6394:Ppm1d'
ID 515966
Institutional Source Beutler Lab
Gene Symbol Ppm1d
Ensembl Gene ENSMUSG00000020525
Gene Name protein phosphatase 1D magnesium-dependent, delta isoform
Synonyms Wip1
MMRRC Submission 044543-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6394 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 85202080-85237897 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85230498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 372 (V372A)
Ref Sequence ENSEMBL: ENSMUSP00000020835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020835] [ENSMUST00000127717]
AlphaFold Q9QZ67
Predicted Effect probably benign
Transcript: ENSMUST00000020835
AA Change: V372A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020835
Gene: ENSMUSG00000020525
AA Change: V372A

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A T 14: 78,760,029 (GRCm39) probably null Het
Alpi T A 1: 87,028,428 (GRCm39) Y154F possibly damaging Het
Als2 A T 1: 59,206,356 (GRCm39) F1635I probably damaging Het
Anxa1 C T 19: 20,361,213 (GRCm39) V60M probably damaging Het
Atp10b A G 11: 43,116,464 (GRCm39) Y937C probably damaging Het
Brd4 C A 17: 32,443,121 (GRCm39) E167* probably null Het
Cacna1h G A 17: 25,606,455 (GRCm39) T1048I probably benign Het
Ccdc113 A G 8: 96,283,820 (GRCm39) D298G probably benign Het
Cfap100 T A 6: 90,394,605 (GRCm39) N74I possibly damaging Het
Chd8 A T 14: 52,440,042 (GRCm39) H4Q possibly damaging Het
Clcn1 A G 6: 42,284,524 (GRCm39) T621A possibly damaging Het
Clcn1 A G 6: 42,290,172 (GRCm39) T843A possibly damaging Het
Clcn3 C T 8: 61,394,325 (GRCm39) R68Q probably damaging Het
Dcaf13 T A 15: 39,007,132 (GRCm39) N355K probably benign Het
Dnah6 A T 6: 73,132,401 (GRCm39) C1100* probably null Het
Dync2h1 A T 9: 7,168,331 (GRCm39) V428E probably damaging Het
E230025N22Rik T C 18: 36,819,839 (GRCm39) E317G probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Evc2 C A 5: 37,535,619 (GRCm39) D431E probably damaging Het
Gcm2 T G 13: 41,263,373 (GRCm39) T20P probably damaging Het
Gdf9 A G 11: 53,327,524 (GRCm39) Y160C probably damaging Het
Gm8220 A G 14: 44,523,134 (GRCm39) probably benign Het
Gpalpp1 A T 14: 76,344,852 (GRCm39) S44T possibly damaging Het
Grip2 T C 6: 91,764,182 (GRCm39) Y134C probably damaging Het
Hephl1 A G 9: 14,985,397 (GRCm39) F753S probably benign Het
Herc1 A G 9: 66,302,341 (GRCm39) T727A probably damaging Het
Herc2 A G 7: 55,865,729 (GRCm39) E4232G probably damaging Het
Ifi207 A G 1: 173,556,581 (GRCm39) L726P probably benign Het
Itga11 T A 9: 62,642,548 (GRCm39) probably null Het
Jrkl A C 9: 13,245,495 (GRCm39) Y55* probably null Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Kif18b A G 11: 102,805,236 (GRCm39) V303A probably damaging Het
Klhl29 A T 12: 5,144,830 (GRCm39) C423* probably null Het
Klhl29 T C 12: 5,187,720 (GRCm39) S215G probably benign Het
Lamp5 A G 2: 135,902,929 (GRCm39) D216G possibly damaging Het
Leo1 T A 9: 75,352,752 (GRCm39) D98E probably benign Het
Map3k3 T C 11: 106,039,709 (GRCm39) V283A probably benign Het
Med12l A G 3: 59,142,508 (GRCm39) K902E probably damaging Het
Mmp1b C A 9: 7,386,316 (GRCm39) D202Y probably benign Het
Muc21 A T 17: 35,931,058 (GRCm39) probably benign Het
Onecut3 A G 10: 80,331,847 (GRCm39) I336V probably damaging Het
Oprl1 C T 2: 181,360,795 (GRCm39) R257C probably damaging Het
Or10g9 T C 9: 39,912,001 (GRCm39) Q174R probably benign Het
Or10h1 G A 17: 33,418,487 (GRCm39) G155D probably damaging Het
Or4c11b C T 2: 88,625,296 (GRCm39) T190I probably benign Het
Or56b1 T A 7: 104,284,909 (GRCm39) N9K possibly damaging Het
Or56b1 T C 7: 104,285,234 (GRCm39) S118P possibly damaging Het
Or5p64 C T 7: 107,854,970 (GRCm39) R125H possibly damaging Het
Or6c69 G T 10: 129,747,789 (GRCm39) D119E probably damaging Het
Osbpl6 T C 2: 76,386,298 (GRCm39) V207A probably benign Het
Pde3a A T 6: 141,433,237 (GRCm39) H756L probably damaging Het
Peg10 T TCCG 6: 4,756,451 (GRCm39) probably benign Het
Phyh A G 2: 4,940,814 (GRCm39) D238G probably benign Het
Pnliprp2 T A 19: 58,750,030 (GRCm39) N92K probably benign Het
Pole3 T C 4: 62,442,263 (GRCm39) probably benign Het
Prpf40a A T 2: 53,034,890 (GRCm39) I766N probably damaging Het
Prr5 T A 15: 84,583,925 (GRCm39) V175E probably damaging Het
Prss59 A T 6: 40,898,726 (GRCm39) L174* probably null Het
Ptprq T A 10: 107,478,804 (GRCm39) K1280* probably null Het
Rbp2 T A 9: 98,389,873 (GRCm39) V95E possibly damaging Het
Rictor T C 15: 6,798,790 (GRCm39) F346L possibly damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Scn10a T A 9: 119,490,386 (GRCm39) I519F probably benign Het
Setd5 T G 6: 113,092,505 (GRCm39) V295G probably damaging Het
Shcbp1 A T 8: 4,786,176 (GRCm39) M642K probably damaging Het
Slc13a3 C T 2: 165,276,017 (GRCm39) G243E probably damaging Het
Smg9 T C 7: 24,121,732 (GRCm39) Y498H probably damaging Het
Sox5 T C 6: 143,987,039 (GRCm39) D175G probably damaging Het
Stard7 A G 2: 127,126,161 (GRCm39) D71G probably damaging Het
Stxbp5 A T 10: 9,774,975 (GRCm39) Y59* probably null Het
Supt6 G A 11: 78,121,891 (GRCm39) R254C probably damaging Het
Syne2 C T 12: 76,037,269 (GRCm39) T3817I probably benign Het
Tas2r124 T A 6: 132,732,039 (GRCm39) I116N probably damaging Het
Trim9 T A 12: 70,301,987 (GRCm39) E550D possibly damaging Het
Vmn2r50 A G 7: 9,774,253 (GRCm39) S548P probably damaging Het
Zmynd8 C A 2: 165,687,943 (GRCm39) E126* probably null Het
Zswim9 A T 7: 12,994,889 (GRCm39) S422R probably 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
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
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
Predicted Primers PCR Primer
(F):5'- GGAGCTGGTGACTCCTATCATG -3'
(R):5'- TGACCCTCTGAAACCACAAG -3'

Sequencing Primer
(F):5'- AGCTGGTGACTCCTATCATGTAAGTC -3'
(R):5'- GTCATGGTGCTTTATCAGGAATAG -3'
Posted On 2018-05-04