Incidental Mutation 'IGL03085:Ppm1d'
ID418047
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 #IGL03085
Quality Score
Status
Chromosome11
Chromosomal Location85311244-85347066 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 85337163 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 302 (I302V)
Ref Sequence ENSEMBL: ENSMUSP00000020835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020835] [ENSMUST00000127717]
Predicted Effect probably null
Transcript: ENSMUST00000020835
AA Change: I302V

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020835
Gene: ENSMUSG00000020525
AA Change: I302V

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 null
Transcript: ENSMUST00000127717
AA Change: I157V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000115606
Gene: ENSMUSG00000020525
AA Change: I157V

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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik A T 14: 63,971,432 H230Q probably benign Het
Aagab T A 9: 63,639,034 probably benign Het
Actl11 G T 9: 107,929,550 K357N probably damaging Het
Aktip A G 8: 91,126,023 probably null Het
Amtn A G 5: 88,381,642 probably benign Het
Arhgap21 T A 2: 20,914,721 M58L probably benign Het
Art2b T A 7: 101,580,578 Y38F probably damaging Het
Asb10 T C 5: 24,539,603 probably benign Het
Atm A T 9: 53,484,171 D1699E possibly damaging Het
Azi2 A C 9: 118,059,146 K259T probably damaging Het
Bcas3 A G 11: 85,476,783 D77G probably damaging Het
Birc6 G A 17: 74,596,950 R1246H probably damaging Het
Cdh13 C A 8: 119,288,724 D559E probably damaging Het
Chrm3 C T 13: 9,877,534 A489T probably damaging Het
Ckap2l A T 2: 129,285,047 Y404N probably benign Het
Col18a1 A G 10: 77,059,181 probably benign Het
Col4a1 T A 8: 11,222,198 K731* probably null Het
Corin A T 5: 72,353,930 C360S probably damaging Het
Cyp1a1 A C 9: 57,701,712 H292P possibly damaging Het
Dennd5b A G 6: 149,027,395 V760A probably damaging Het
Dhx57 T C 17: 80,258,097 D842G possibly damaging Het
Emp2 C A 16: 10,288,046 probably benign Het
Eral1 G A 11: 78,078,267 R136C probably damaging Het
Fat2 T A 11: 55,283,246 M2214L probably benign Het
Flnb G A 14: 7,882,211 R304H probably benign Het
G6pd2 A T 5: 61,810,302 E473D probably benign Het
Gpx8 A G 13: 113,043,261 Y169H probably damaging Het
Ighv1-64 A G 12: 115,507,841 S19P possibly damaging Het
Ikbkb G T 8: 22,682,786 N139K probably benign Het
Inpp5b A T 4: 124,792,322 T720S probably benign Het
Kmt2d C A 15: 98,839,940 probably benign Het
Lrig2 G A 3: 104,467,259 P169S probably damaging Het
Magi3 T A 3: 104,015,339 K1354I possibly damaging Het
Mapk9 A T 11: 49,867,038 D103V probably damaging Het
Mrpl46 A T 7: 78,781,585 I75N probably damaging Het
Olfr402 T A 11: 74,155,685 I177N probably damaging Het
Olfr890 A G 9: 38,143,183 E16G probably damaging Het
Olfr926 G A 9: 38,877,663 M162I probably benign Het
Otog G T 7: 46,305,922 probably null Het
Pex11a A G 7: 79,737,775 L103P probably damaging Het
Pnpla8 A G 12: 44,311,522 T687A probably benign Het
Prdm11 C A 2: 92,974,959 V549F possibly damaging Het
Prss54 G A 8: 95,565,630 P107L probably benign Het
Rasa3 T A 8: 13,585,690 N422I probably benign Het
Rbm27 T C 18: 42,327,524 probably benign Het
Rpl13-ps3 A T 14: 58,893,707 noncoding transcript Het
Rps6ka2 G A 17: 7,295,280 probably null Het
Sphkap T A 1: 83,280,354 I223F possibly damaging Het
Srm T C 4: 148,593,381 F159L probably damaging Het
Stt3a A G 9: 36,732,970 probably benign Het
Tacr3 T C 3: 134,932,266 S395P possibly damaging Het
Tecpr2 A G 12: 110,954,826 probably benign Het
Tmub1 C T 5: 24,446,098 G188S probably damaging Het
Trim66 T A 7: 109,458,745 I877F probably benign Het
Ubr5 T C 15: 38,029,568 E471G probably damaging Het
Vmn1r218 A T 13: 23,137,311 Y196F possibly damaging Het
Vmn2r89 T A 14: 51,452,158 D39E probably damaging Het
Wee1 C A 7: 110,124,598 P240Q probably damaging Het
Zc3h12a A T 4: 125,127,020 V10D probably benign Het
Zzef1 T C 11: 72,855,524 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
IGL02667:Ppm1d APN 11 85332285 missense probably damaging 1.00
IGL02885:Ppm1d APN 11 85326944 missense possibly damaging 0.52
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 On2016-08-02