Incidental Mutation 'IGL02667:Ppm1d'
ID 302784
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 # IGL02667
Quality Score
Status
Chromosome 11
Chromosomal Location 85202080-85237897 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85223111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 239 (W239R)
Ref Sequence ENSEMBL: ENSMUSP00000020835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020835] [ENSMUST00000127717]
AlphaFold Q9QZ67
Predicted Effect probably damaging
Transcript: ENSMUST00000020835
AA Change: W239R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020835
Gene: ENSMUSG00000020525
AA Change: W239R

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 damaging
Transcript: ENSMUST00000127717
AA Change: W94R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000115606
Gene: ENSMUSG00000020525
AA Change: W94R

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6530409C15Rik A G 6: 28,217,670 (GRCm39) noncoding transcript Het
Akr1e1 G A 13: 4,645,666 (GRCm39) P174L possibly damaging Het
Arf5 C A 6: 28,425,198 (GRCm39) N95K probably damaging Het
Atl3 T C 19: 7,486,781 (GRCm39) F39L possibly damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Cyp2a12 T C 7: 26,730,583 (GRCm39) S183P probably damaging Het
Dicer1 T A 12: 104,681,165 (GRCm39) R449S probably damaging Het
Dlec1 T C 9: 118,956,534 (GRCm39) I736T probably benign Het
Eny2 T A 15: 44,292,984 (GRCm39) M12K possibly damaging Het
Fbxl21 C T 13: 56,684,942 (GRCm39) R349C probably benign Het
Gstm2 A G 3: 107,893,424 (GRCm39) L13P probably damaging Het
Gucy2g G A 19: 55,194,609 (GRCm39) T936M possibly damaging Het
Mbp G T 18: 82,572,740 (GRCm39) K12N probably damaging Het
Mon1b G T 8: 114,365,455 (GRCm39) R261L possibly damaging Het
Myo18a A G 11: 77,748,678 (GRCm39) probably benign Het
Nr2f2 T C 7: 70,007,733 (GRCm39) S117G probably damaging Het
Pi4k2b T C 5: 52,907,947 (GRCm39) probably benign Het
Pi4ka A G 16: 17,113,325 (GRCm39) F1504L possibly damaging Het
Setd1b T A 5: 123,295,560 (GRCm39) S1043T unknown Het
Tgfbrap1 T C 1: 43,106,780 (GRCm39) I298V probably benign Het
Tmem190 T A 7: 4,786,157 (GRCm39) D20E probably benign Het
Tph2 A T 10: 114,915,950 (GRCm39) C408S probably benign Het
Trmt44 A C 5: 35,728,396 (GRCm39) Y295D probably damaging Het
Trpm2 C T 10: 77,771,776 (GRCm39) R621H probably damaging Het
Tut4 T C 4: 108,415,905 (GRCm39) probably benign Het
Ubn1 A G 16: 4,880,463 (GRCm39) E134G 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
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