Incidental Mutation 'R4090:Ppme1'
ID 317566
Institutional Source Beutler Lab
Gene Symbol Ppme1
Ensembl Gene ENSMUSG00000030718
Gene Name protein phosphatase methylesterase 1
Synonyms 2700017M01Rik, PME-1, 1110069N17Rik
MMRRC Submission 040983-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4090 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 99975944-100021103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99997044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 122 (N122K)
Ref Sequence ENSEMBL: ENSMUSP00000032963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032963]
AlphaFold Q8BVQ5
Predicted Effect possibly damaging
Transcript: ENSMUST00000032963
AA Change: N122K

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032963
Gene: ENSMUSG00000030718
AA Change: N122K

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 probably benign
Transcript: ENSMUST00000207634
Meta Mutation Damage Score 0.0876 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 96% (53/55)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 T G 10: 106,889,313 (GRCm39) Y169S probably damaging Het
Apc2 A G 10: 80,141,378 (GRCm39) K268E probably damaging Het
Arhgef2 G C 3: 88,551,185 (GRCm39) R765P probably benign Het
Bptf T C 11: 106,972,349 (GRCm39) K840E probably damaging Het
Carf A G 1: 60,175,506 (GRCm39) R245G possibly damaging Het
Cd36 A G 5: 17,990,718 (GRCm39) probably null Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Cldn34c4 A T X: 126,629,011 (GRCm39) V153E probably damaging Het
Col4a4 T A 1: 82,501,643 (GRCm39) Y370F unknown Het
Cplane1 T A 15: 8,241,842 (GRCm39) probably null Het
Ddx4 A G 13: 112,750,295 (GRCm39) V386A probably benign Het
Exoc6 A G 19: 37,560,360 (GRCm39) T126A probably benign Het
Fam83f A T 15: 80,576,393 (GRCm39) N348I possibly damaging Het
Gja8 A G 3: 96,826,468 (GRCm39) V398A probably benign Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm12789 A T 4: 101,845,526 (GRCm39) T72S possibly damaging Het
Gm1988 A G 7: 38,820,292 (GRCm39) noncoding transcript Het
Gm21370 A G 13: 120,488,489 (GRCm39) V20A probably benign Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Hsd17b13 T A 5: 104,113,720 (GRCm39) S245C probably benign Het
Htr1f T C 16: 64,746,324 (GRCm39) K323E probably benign Het
Igkc T C 6: 70,703,442 (GRCm39) probably benign Het
Ksr1 T C 11: 78,918,303 (GRCm39) E535G probably damaging Het
Mlxipl A T 5: 135,161,381 (GRCm39) E433D probably benign Het
Npc1 T C 18: 12,331,219 (GRCm39) probably null Het
Or10ak7 C T 4: 118,791,230 (GRCm39) E272K probably benign Het
Or1e29 A G 11: 73,667,667 (GRCm39) L162P probably damaging Het
Or6y1 A G 1: 174,276,500 (GRCm39) T104A probably benign Het
Or7g17 T C 9: 18,768,398 (GRCm39) I159T probably benign Het
Pcdha3 A G 18: 37,081,504 (GRCm39) R749G probably benign Het
Rasal1 G A 5: 120,813,674 (GRCm39) V657M possibly damaging Het
Rbm47 A G 5: 66,180,080 (GRCm39) M409T probably benign Het
Rragd C T 4: 33,007,155 (GRCm39) T161M probably damaging Het
Slurp1 T C 15: 74,598,724 (GRCm39) H89R possibly damaging Het
Snap23 A G 2: 120,416,061 (GRCm39) I42V probably benign Het
Sypl2 A G 3: 108,124,992 (GRCm39) I123T possibly damaging Het
Taar8a T A 10: 23,953,062 (GRCm39) V222E probably damaging Het
Tmem171 A T 13: 98,829,096 (GRCm39) V18D probably damaging Het
Topors T C 4: 40,260,794 (GRCm39) D830G unknown Het
Traf3ip3 A G 1: 192,863,628 (GRCm39) V414A probably damaging Het
Tubg1 T A 11: 101,015,364 (GRCm39) M270K possibly damaging Het
Vmn1r188 T C 13: 22,272,772 (GRCm39) V242A probably benign Het
Vmn1r19 T A 6: 57,381,720 (GRCm39) I91N probably damaging Het
Vmn2r12 T A 5: 109,239,412 (GRCm39) M384L probably benign Het
Wdr26 T C 1: 181,030,679 (GRCm39) E205G probably damaging Het
Zfp281 T A 1: 136,553,859 (GRCm39) I279N probably damaging Het
Zfp398 T A 6: 47,843,159 (GRCm39) C272S probably damaging Het
Zfp975 A G 7: 42,312,298 (GRCm39) V105A 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
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
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'- GTGTGATAACCACCAGACTGG -3'
(R):5'- GAGGAATCATAGCTTGTAGGTAGAC -3'

Sequencing Primer
(F):5'- TGTGATAACCACCAGACTGGATAAAC -3'
(R):5'- CTGGAATGTACATCCTAGCT -3'
Posted On 2015-05-15