Incidental Mutation 'IGL02138:Ppme1'
ID281393
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppme1
Ensembl Gene ENSMUSG00000030718
Gene Nameprotein phosphatase methylesterase 1
Synonyms1110069N17Rik, PME-1, 2700017M01Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02138
Quality Score
Status
Chromosome7
Chromosomal Location100326737-100372307 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 100333932 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 335 (M335I)
Ref Sequence ENSEMBL: ENSMUSP00000032963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032963]
Predicted Effect probably damaging
Transcript: ENSMUST00000032963
AA Change: M335I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032963
Gene: ENSMUSG00000030718
AA Change: M335I

DomainStartEndE-ValueType
low complexity region 10 25 N/A INTRINSIC
Pfam:Hydrolase_4 73 199 5.2e-13 PFAM
Pfam:Abhydrolase_1 77 356 7.4e-17 PFAM
Pfam:Abhydrolase_5 78 259 1.3e-14 PFAM
Pfam:Abhydrolase_6 79 362 2.4e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207092
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207622
Predicted Effect probably benign
Transcript: ENSMUST00000207634
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein phosphatase methylesterase localized to the nucleus. The encoded protein acts on the protein phosphatase-2A catalytic subunit and supports the ERK pathway through dephosphorylation of regulatory proteins. It plays a role in malignant glioma progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
PHENOTYPE: Targeted disruption of this gene causes virtual loss of the demethylated form of phosphoprotein phosphatase 2A in the nervous system and peripheral tissues. Homozygous null mice fail to initiate normal breathing or suckling behavior and die within the first day of life. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T G 14: 32,662,715 D431A possibly damaging Het
Adgrb1 T C 15: 74,529,782 M209T probably damaging Het
Ano8 T C 8: 71,484,842 H86R probably damaging Het
Camk1d G T 2: 5,445,084 Y87* probably null Het
Capza3 A G 6: 140,042,146 D157G probably benign Het
Ccdc36 G A 9: 108,406,621 T208I probably benign Het
Ckmt2 A T 13: 91,861,828 D124E probably benign Het
Col14a1 C A 15: 55,420,835 Q831K unknown Het
Copb2 C T 9: 98,587,552 P829S probably benign Het
Dlg5 A G 14: 24,158,351 V929A probably benign Het
Dolk A G 2: 30,285,979 V18A probably benign Het
Ecm2 G T 13: 49,522,828 L340F probably damaging Het
Hacl1 A G 14: 31,630,983 L149P probably benign Het
Higd2a A T 13: 54,590,422 probably null Het
Hspa12a A T 19: 58,828,298 S28R probably benign Het
Igkv5-37 A G 6: 69,963,451 Y70H probably damaging Het
Kif11 T C 19: 37,384,609 V92A probably damaging Het
Kif26a T C 12: 112,174,850 S696P probably damaging Het
Kng1 A T 16: 23,067,808 N168Y probably damaging Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Lepr A G 4: 101,768,067 D473G probably damaging Het
Lipt1 G A 1: 37,875,786 E308K possibly damaging Het
Luc7l3 A T 11: 94,303,966 F76Y probably benign Het
Mapk1 A G 16: 17,023,452 I163V probably benign Het
Matn3 A G 12: 8,967,638 E430G possibly damaging Het
Med13 A T 11: 86,286,765 S1502T probably damaging Het
Mlf1 A T 3: 67,399,713 H237L probably benign Het
Mss51 A C 14: 20,484,855 Y282* probably null Het
Ncoa3 A G 2: 166,055,262 T658A probably benign Het
Olfr406 A T 11: 74,269,718 M110L probably benign Het
Olfr867 A T 9: 20,054,900 S188T probably benign Het
Phrf1 T A 7: 141,259,283 probably benign Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Sntg2 T A 12: 30,307,231 probably null Het
Spryd3 T C 15: 102,118,919 probably benign Het
Srpx A G X: 10,067,423 probably null Het
St8sia1 G T 6: 142,963,778 probably benign Het
Stab1 A G 14: 31,143,513 probably null Het
Sycp2 T A 2: 178,401,990 K108* probably null Het
Sycp2 A T 2: 178,358,254 S976R probably benign Het
Tagap1 T C 17: 6,956,086 T404A probably damaging Het
Tg C T 15: 66,717,233 T21I probably benign Het
Tlr4 A T 4: 66,840,965 Y665F probably damaging Het
Tmc8 T G 11: 117,791,255 S525A probably benign Het
Tor4a A T 2: 25,194,798 D364E probably benign Het
Trim44 T C 2: 102,380,908 I236V probably benign Het
Ube2o A G 11: 116,543,400 probably benign Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Xirp2 A T 2: 67,516,956 R3180S probably benign Het
Zfp335 A G 2: 164,893,804 C1077R probably damaging Het
Other mutations in Ppme1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02957:Ppme1 APN 7 100338440 missense possibly damaging 0.93
R0328:Ppme1 UTSW 7 100333975 splice site probably null
R3015:Ppme1 UTSW 7 100331877 missense probably damaging 1.00
R4042:Ppme1 UTSW 7 100341065 missense probably damaging 1.00
R4090:Ppme1 UTSW 7 100347837 missense possibly damaging 0.85
R4987:Ppme1 UTSW 7 100345071 missense probably benign 0.01
R5579:Ppme1 UTSW 7 100344975 missense probably damaging 1.00
R6035:Ppme1 UTSW 7 100354795 nonsense probably null
R6035:Ppme1 UTSW 7 100354795 nonsense probably null
R6374:Ppme1 UTSW 7 100341065 missense probably damaging 1.00
R6462:Ppme1 UTSW 7 100338392 missense probably benign 0.01
R7092:Ppme1 UTSW 7 100371822 start codon destroyed probably null 0.53
R7468:Ppme1 UTSW 7 100341862 missense probably benign 0.08
Posted On2015-04-16