Incidental Mutation 'R8412:Ppme1'
ID 652742
Institutional Source Beutler Lab
Gene Symbol Ppme1
Ensembl Gene ENSMUSG00000030718
Gene Name protein phosphatase methylesterase 1
Synonyms 2700017M01Rik, PME-1, 1110069N17Rik
MMRRC Submission 067816-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8412 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 99975944-100021103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99984298 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 307 (N307K)
Ref Sequence ENSEMBL: ENSMUSP00000032963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032963]
AlphaFold Q8BVQ5
Predicted Effect probably benign
Transcript: ENSMUST00000032963
AA Change: N307K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000032963
Gene: ENSMUSG00000030718
AA Change: N307K

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 probably benign
Transcript: ENSMUST00000207634
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik T A 1: 183,765,356 (GRCm39) R234S probably damaging Het
Ace T A 11: 105,870,092 (GRCm39) F806Y probably benign Het
Ak8 A G 2: 28,629,643 (GRCm39) T286A probably benign Het
Apba2 T A 7: 64,395,546 (GRCm39) F674Y probably damaging Het
Apob A G 12: 8,058,069 (GRCm39) I2184V probably benign Het
Arhgap23 C T 11: 97,356,854 (GRCm39) P884L probably benign Het
Atg2a T C 19: 6,294,554 (GRCm39) L90P probably damaging Het
Bhmt2 T A 13: 93,798,820 (GRCm39) I334F possibly damaging Het
Bmi1 C T 2: 18,689,114 (GRCm39) T266I probably damaging Het
Cdh26 A G 2: 178,104,517 (GRCm39) I301V probably damaging Het
Cenpx A T 11: 120,602,558 (GRCm39) H68Q unknown Het
Cnot10 T C 9: 114,439,738 (GRCm39) R524G probably benign Het
Cnpy1 A T 5: 28,414,206 (GRCm39) Y22* probably null Het
Csmd3 C T 15: 47,499,794 (GRCm39) R2114H Het
Defa29 T A 8: 21,816,062 (GRCm39) T102S probably benign Het
Fras1 T C 5: 96,744,711 (GRCm39) I582T probably benign Het
Gm14295 G A 2: 176,501,422 (GRCm39) C304Y probably damaging Het
Gucy2d T C 7: 98,093,046 (GRCm39) V141A possibly damaging Het
Ifi47 A C 11: 48,986,425 (GRCm39) Q64P probably damaging Het
Irx3 G T 8: 92,527,028 (GRCm39) S225R possibly damaging Het
Itpr1 A G 6: 108,340,581 (GRCm39) H289R probably benign Het
Lamc3 A G 2: 31,802,128 (GRCm39) D512G probably damaging Het
Mcm3 C T 1: 20,886,980 (GRCm39) V142I probably benign Het
Med23 C A 10: 24,784,632 (GRCm39) F1200L probably benign Het
Ndst4 A T 3: 125,364,439 (GRCm39) D372V possibly damaging Het
Nob1 T A 8: 108,148,230 (GRCm39) K71* probably null Het
Ntrk3 A G 7: 78,005,897 (GRCm39) I488T probably benign Het
Pds5b G T 5: 150,643,424 (GRCm39) C82F probably damaging Het
Pkd1l3 T A 8: 110,360,022 (GRCm39) V969E possibly damaging Het
Pus7l C T 15: 94,425,856 (GRCm39) C515Y probably benign Het
Rpp21 T A 17: 36,568,591 (GRCm39) H22L possibly damaging Het
Scamp3 T C 3: 89,088,525 (GRCm39) F244L probably damaging Het
Scgb1b7 A T 7: 31,412,379 (GRCm39) K52* probably null Het
Slc12a3 T C 8: 95,060,695 (GRCm39) I261T probably damaging Het
Slc19a3 C T 1: 82,992,533 (GRCm39) R396H probably damaging Het
Slc22a14 T C 9: 119,009,922 (GRCm39) I58V probably benign Het
Slc9a9 A C 9: 95,111,092 (GRCm39) T637P probably damaging Het
Snrnp40 T A 4: 130,278,316 (GRCm39) C274S possibly damaging Het
Sptbn1 A G 11: 30,088,457 (GRCm39) V905A probably damaging Het
Taok3 A G 5: 117,404,102 (GRCm39) D759G possibly damaging Het
Tas1r1 T C 4: 152,117,033 (GRCm39) I200M probably benign Het
Tnfrsf25 T C 4: 152,204,139 (GRCm39) V360A possibly damaging Het
Trim12a A T 7: 103,953,544 (GRCm39) M189K possibly damaging Het
Tspan32 T C 7: 142,559,695 (GRCm39) F41L probably benign Het
Tube1 T A 10: 39,021,657 (GRCm39) S301T possibly damaging Het
Usp8 T C 2: 126,584,578 (GRCm39) S596P probably benign Het
Virma T A 4: 11,521,261 (GRCm39) probably null Het
Vmn2r58 T C 7: 41,513,722 (GRCm39) D307G probably benign Het
Zeb2 T C 2: 44,888,964 (GRCm39) K327R probably damaging Het
Zfp54 C T 17: 21,654,910 (GRCm39) T468M probably benign Het
Zfp780b A T 7: 27,662,551 (GRCm39) I668N possibly damaging 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
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
R8461:Ppme1 UTSW 7 100,021,012 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAGTATTCTGACAATTCTATGGACGC -3'
(R):5'- TAGTGGGTTCTCACCTGTGC -3'

Sequencing Primer
(F):5'- GCCATAACCTCCAGTGGATTTGAAG -3'
(R):5'- GTTCTCACCTGTGCTGGCTC -3'
Posted On 2020-10-20