Incidental Mutation 'R0328:Ppme1'
ID 25864
Institutional Source Beutler Lab
Gene Symbol Ppme1
Ensembl Gene ENSMUSG00000030718
Gene Name protein phosphatase methylesterase 1
Synonyms 2700017M01Rik, PME-1, 1110069N17Rik
MMRRC Submission 038537-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0328 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 99975944-100021103 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 99983182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000032963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032963]
AlphaFold Q8BVQ5
Predicted Effect probably null
Transcript: ENSMUST00000032963
SMART Domains Protein: ENSMUSP00000032963
Gene: ENSMUSG00000030718

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.5%
  • 20x: 90.8%
Validation Efficiency 96% (46/48)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A T 2: 68,574,624 (GRCm39) H618L possibly damaging Het
Aacs T C 5: 125,593,323 (GRCm39) V642A probably benign Het
Alms1 A G 6: 85,587,796 (GRCm39) probably null Het
Arhgap39 A G 15: 76,636,152 (GRCm39) probably benign Het
Bard1 C T 1: 71,085,921 (GRCm39) V595I probably benign Het
Bptf T C 11: 106,937,953 (GRCm39) K2713E probably damaging Het
Calhm1 C T 19: 47,129,742 (GRCm39) G260D possibly damaging Het
Ccdc154 A C 17: 25,390,779 (GRCm39) K643T probably benign Het
Ccl4 T A 11: 83,554,383 (GRCm39) S59T probably damaging Het
Cntd1 T C 11: 101,174,259 (GRCm39) S73P probably benign Het
Colgalt2 A T 1: 152,348,859 (GRCm39) D168V probably damaging Het
Fam117a T C 11: 95,266,452 (GRCm39) probably benign Het
Fat1 A G 8: 45,476,827 (GRCm39) T1935A probably benign Het
Fbxw21 T A 9: 108,975,653 (GRCm39) I248F possibly damaging Het
Fhod3 A T 18: 25,246,657 (GRCm39) M1288L probably benign Het
Gm5114 T G 7: 39,057,885 (GRCm39) K578T probably damaging Het
Gxylt2 A T 6: 100,727,496 (GRCm39) probably benign Het
Helz G T 11: 107,495,174 (GRCm39) A383S probably benign Het
Ift172 C A 5: 31,421,195 (GRCm39) E968* probably null Het
Itpripl1 T C 2: 126,983,924 (GRCm39) N66S possibly damaging Het
Kcnma1 A G 14: 23,423,265 (GRCm39) Y686H probably damaging Het
Ndrg1 C A 15: 66,815,008 (GRCm39) probably benign Het
Ogdh T C 11: 6,297,216 (GRCm39) V545A probably benign Het
Or10al5 A G 17: 38,063,284 (GRCm39) I180V possibly damaging Het
P3h3 G A 6: 124,831,269 (GRCm39) probably benign Het
Prkag1 T G 15: 98,713,563 (GRCm39) D44A probably damaging Het
Prpf39 T C 12: 65,090,145 (GRCm39) probably benign Het
Rabep1 C A 11: 70,810,033 (GRCm39) R489S probably damaging Het
Scn10a A G 9: 119,523,168 (GRCm39) V75A possibly damaging Het
Sema3d T C 5: 12,498,042 (GRCm39) L16P possibly damaging Het
Skida1 T C 2: 18,051,997 (GRCm39) probably benign Het
Sptbn4 T C 7: 27,063,595 (GRCm39) Y2277C probably damaging Het
Syne1 A G 10: 5,298,945 (GRCm39) I1047T possibly damaging Het
Syt17 A G 7: 117,981,216 (GRCm39) Y369H probably benign Het
Tmem131l C T 3: 83,829,238 (GRCm39) probably benign Het
Traf3ip2 A T 10: 39,510,669 (GRCm39) D314V probably damaging Het
Ttc28 T G 5: 111,431,933 (GRCm39) probably benign Het
Ush1c A C 7: 45,874,872 (GRCm39) probably benign Het
Utp20 A T 10: 88,602,969 (GRCm39) Y1884N possibly damaging Het
Vmn2r112 T A 17: 22,824,251 (GRCm39) I502K probably benign Het
Vmn2r60 T C 7: 41,791,744 (GRCm39) probably benign Het
Vmn2r63 T C 7: 42,552,699 (GRCm39) I852M probably benign Het
Vmn2r9 T A 5: 108,995,405 (GRCm39) E414D probably benign Het
Wnt4 A G 4: 137,022,754 (GRCm39) T106A probably damaging Het
Zbtb26 A T 2: 37,326,807 (GRCm39) N76K possibly damaging Het
Zfhx2 T C 14: 55,309,445 (GRCm39) T885A probably benign Het
Other mutations in Ppme1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02138:Ppme1 APN 7 99,983,139 (GRCm39) missense probably damaging 1.00
IGL02957:Ppme1 APN 7 99,987,647 (GRCm39) missense possibly damaging 0.93
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
Predicted Primers PCR Primer
(F):5'- GCTGGACTCTAATGCTCATGCTCTC -3'
(R):5'- TGAGTACCTGACTGAACCCAACTCC -3'

Sequencing Primer
(F):5'- AATGCTCATGCTCTCTCAGTG -3'
(R):5'- aacacccttttctgacctcc -3'
Posted On 2013-04-16