Incidental Mutation 'IGL02138:Ppme1'
ID 281393
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppme1
Ensembl Gene ENSMUSG00000030718
Gene Name protein phosphatase methylesterase 1
Synonyms 2700017M01Rik, PME-1, 1110069N17Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02138
Quality Score
Status
Chromosome 7
Chromosomal Location 99975944-100021103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 99983139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 335 (M335I)
Ref Sequence ENSEMBL: ENSMUSP00000032963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032963]
AlphaFold Q8BVQ5
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: 32,384,672 (GRCm39) D431A possibly damaging Het
Adgrb1 T C 15: 74,401,631 (GRCm39) M209T probably damaging Het
Ano8 T C 8: 71,937,486 (GRCm39) H86R probably damaging Het
Camk1d G T 2: 5,449,895 (GRCm39) Y87* probably null Het
Capza3 A G 6: 139,987,872 (GRCm39) D157G probably benign Het
Ckmt2 A T 13: 92,009,947 (GRCm39) D124E probably benign Het
Col14a1 C A 15: 55,284,231 (GRCm39) Q831K unknown Het
Copb2 C T 9: 98,469,605 (GRCm39) P829S probably benign Het
Dlg5 A G 14: 24,208,419 (GRCm39) V929A probably benign Het
Dolk A G 2: 30,175,991 (GRCm39) V18A probably benign Het
Ecm2 G T 13: 49,676,304 (GRCm39) L340F probably damaging Het
Hacl1 A G 14: 31,352,940 (GRCm39) L149P probably benign Het
Higd2a A T 13: 54,738,235 (GRCm39) probably null Het
Hspa12a A T 19: 58,816,730 (GRCm39) S28R probably benign Het
Igkv5-37 A G 6: 69,940,435 (GRCm39) Y70H probably damaging Het
Iho1 G A 9: 108,283,820 (GRCm39) T208I probably benign Het
Kif11 T C 19: 37,373,057 (GRCm39) V92A probably damaging Het
Kif26a T C 12: 112,141,284 (GRCm39) S696P probably damaging Het
Kng1 A T 16: 22,886,558 (GRCm39) N168Y probably damaging Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Lepr A G 4: 101,625,264 (GRCm39) D473G probably damaging Het
Lipt1 G A 1: 37,914,867 (GRCm39) E308K possibly damaging Het
Luc7l3 A T 11: 94,194,792 (GRCm39) F76Y probably benign Het
Mapk1 A G 16: 16,841,316 (GRCm39) I163V probably benign Het
Matn3 A G 12: 9,017,638 (GRCm39) E430G possibly damaging Het
Med13 A T 11: 86,177,591 (GRCm39) S1502T probably damaging Het
Mlf1 A T 3: 67,307,046 (GRCm39) H237L probably benign Het
Mss51 A C 14: 20,534,923 (GRCm39) Y282* probably null Het
Ncoa3 A G 2: 165,897,182 (GRCm39) T658A probably benign Het
Or1p1c A T 11: 74,160,544 (GRCm39) M110L probably benign Het
Or7d11 A T 9: 19,966,196 (GRCm39) S188T probably benign Het
Phrf1 T A 7: 140,839,196 (GRCm39) probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Sntg2 T A 12: 30,357,230 (GRCm39) probably null Het
Spryd3 T C 15: 102,027,354 (GRCm39) probably benign Het
Srpx A G X: 9,933,662 (GRCm39) probably null Het
St8sia1 G T 6: 142,909,504 (GRCm39) probably benign Het
Stab1 A G 14: 30,865,470 (GRCm39) probably null Het
Sycp2 A T 2: 178,000,047 (GRCm39) S976R probably benign Het
Sycp2 T A 2: 178,043,783 (GRCm39) K108* probably null Het
Tagap1 T C 17: 7,223,485 (GRCm39) T404A probably damaging Het
Tg C T 15: 66,589,082 (GRCm39) T21I probably benign Het
Tlr4 A T 4: 66,759,202 (GRCm39) Y665F probably damaging Het
Tmc8 T G 11: 117,682,081 (GRCm39) S525A probably benign Het
Tor4a A T 2: 25,084,810 (GRCm39) D364E probably benign Het
Trim44 T C 2: 102,211,253 (GRCm39) I236V probably benign Het
Ube2o A G 11: 116,434,226 (GRCm39) probably benign Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Xirp2 A T 2: 67,347,300 (GRCm39) R3180S probably benign Het
Zfp335 A G 2: 164,735,724 (GRCm39) C1077R probably damaging Het
Other mutations in Ppme1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02957:Ppme1 APN 7 99,987,647 (GRCm39) missense possibly damaging 0.93
R0328:Ppme1 UTSW 7 99,983,182 (GRCm39) splice site probably null
R3015:Ppme1 UTSW 7 99,981,084 (GRCm39) missense probably damaging 1.00
R4042:Ppme1 UTSW 7 99,990,272 (GRCm39) missense probably damaging 1.00
R4090:Ppme1 UTSW 7 99,997,044 (GRCm39) missense possibly damaging 0.85
R4987:Ppme1 UTSW 7 99,994,278 (GRCm39) missense probably benign 0.01
R5579:Ppme1 UTSW 7 99,994,182 (GRCm39) missense probably damaging 1.00
R6035:Ppme1 UTSW 7 100,004,002 (GRCm39) nonsense probably null
R6035:Ppme1 UTSW 7 100,004,002 (GRCm39) nonsense probably null
R6374:Ppme1 UTSW 7 99,990,272 (GRCm39) missense probably damaging 1.00
R6462:Ppme1 UTSW 7 99,987,599 (GRCm39) missense probably benign 0.01
R7092:Ppme1 UTSW 7 100,021,029 (GRCm39) start codon destroyed probably null 0.53
R7468:Ppme1 UTSW 7 99,991,069 (GRCm39) missense probably benign 0.08
R8412:Ppme1 UTSW 7 99,984,298 (GRCm39) missense probably benign 0.00
R8461:Ppme1 UTSW 7 100,021,012 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16