Incidental Mutation 'IGL02667:Ppm1d'
ID302784
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppm1d
Ensembl Gene ENSMUSG00000020525
Gene Nameprotein phosphatase 1D magnesium-dependent, delta isoform
SynonymsWip1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02667
Quality Score
Status
Chromosome11
Chromosomal Location85311244-85347066 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 85332285 bp
ZygosityHeterozygous
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]
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: 28,217,671 noncoding transcript Het
Akr1e1 G A 13: 4,595,667 P174L possibly damaging Het
Arf5 C A 6: 28,425,199 N95K probably damaging Het
Atl3 T C 19: 7,509,416 F39L possibly damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Cyp2a12 T C 7: 27,031,158 S183P probably damaging Het
Dicer1 T A 12: 104,714,906 R449S probably damaging Het
Dlec1 T C 9: 119,127,466 I736T probably benign Het
Eny2 T A 15: 44,429,588 M12K possibly damaging Het
Fbxl21 C T 13: 56,537,129 R349C probably benign Het
Gstm2 A G 3: 107,986,108 L13P probably damaging Het
Gucy2g G A 19: 55,206,177 T936M possibly damaging Het
Mbp G T 18: 82,554,615 K12N probably damaging Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Myo18a A G 11: 77,857,852 probably benign Het
Nr2f2 T C 7: 70,357,985 S117G probably damaging Het
Pi4k2b T C 5: 52,750,605 probably benign Het
Pi4ka A G 16: 17,295,461 F1504L possibly damaging Het
Setd1b T A 5: 123,157,497 S1043T unknown Het
Tgfbrap1 T C 1: 43,067,620 I298V probably benign Het
Tmem190 T A 7: 4,783,158 D20E probably benign Het
Tph2 A T 10: 115,080,045 C408S probably benign Het
Trmt44 A C 5: 35,571,052 Y295D probably damaging Het
Trpm2 C T 10: 77,935,942 R621H probably damaging Het
Ubn1 A G 16: 5,062,599 E134G probably damaging Het
Zcchc11 T C 4: 108,558,708 probably benign Het
Other mutations in Ppm1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02095:Ppm1d APN 11 85327006 missense probably benign 0.04
IGL02351:Ppm1d APN 11 85345715 missense probably damaging 0.99
IGL02358:Ppm1d APN 11 85345715 missense probably damaging 0.99
IGL02496:Ppm1d APN 11 85339666 missense possibly damaging 0.51
IGL02885:Ppm1d APN 11 85326944 missense possibly damaging 0.52
IGL03085:Ppm1d APN 11 85337163 missense probably null 0.80
R0114:Ppm1d UTSW 11 85326905 missense probably damaging 1.00
R0606:Ppm1d UTSW 11 85345877 missense probably benign 0.27
R1014:Ppm1d UTSW 11 85337154 missense probably damaging 0.98
R1548:Ppm1d UTSW 11 85339605 missense probably damaging 1.00
R3774:Ppm1d UTSW 11 85337167 missense probably damaging 1.00
R3775:Ppm1d UTSW 11 85337167 missense probably damaging 1.00
R4025:Ppm1d UTSW 11 85345757 missense probably benign 0.09
R4065:Ppm1d UTSW 11 85345852 missense probably benign 0.01
R4067:Ppm1d UTSW 11 85345852 missense probably benign 0.01
R4118:Ppm1d UTSW 11 85311582 missense probably benign 0.01
R5169:Ppm1d UTSW 11 85332370 missense probably damaging 1.00
R5384:Ppm1d UTSW 11 85311783 missense probably damaging 0.98
R5861:Ppm1d UTSW 11 85311848 missense possibly damaging 0.70
R5890:Ppm1d UTSW 11 85326908 missense probably damaging 1.00
R6394:Ppm1d UTSW 11 85339672 missense probably benign
R6992:Ppm1d UTSW 11 85332352 missense probably damaging 1.00
R7006:Ppm1d UTSW 11 85337151 missense possibly damaging 0.92
R7297:Ppm1d UTSW 11 85345995 missense probably damaging 1.00
Z1176:Ppm1d UTSW 11 85339573 missense probably benign 0.09
Z1177:Ppm1d UTSW 11 85326963 missense probably damaging 1.00
Posted On2015-04-16