Incidental Mutation 'R8461:Ppme1'
ID 655274
Institutional Source Beutler Lab
Gene Symbol Ppme1
Ensembl Gene ENSMUSG00000030718
Gene Name protein phosphatase methylesterase 1
Synonyms 2700017M01Rik, PME-1, 1110069N17Rik
MMRRC Submission 067837-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8461 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 99975944-100021103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100021012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 7 (S7G)
Ref Sequence ENSEMBL: ENSMUSP00000032963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032963] [ENSMUST00000051777] [ENSMUST00000098259] [ENSMUST00000133464]
AlphaFold Q8BVQ5
Predicted Effect probably benign
Transcript: ENSMUST00000032963
AA Change: S7G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000032963
Gene: ENSMUSG00000030718
AA Change: S7G

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: ENSMUST00000051777
SMART Domains Protein: ENSMUSP00000062637
Gene: ENSMUSG00000047248

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
low complexity region 406 417 N/A INTRINSIC
C2 524 662 2.36e1 SMART
C2 790 899 3.73e0 SMART
C2 989 1129 1.47e1 SMART
C2 1182 1321 1.63e1 SMART
C2 1617 1724 1.43e-2 SMART
low complexity region 1892 1906 N/A INTRINSIC
low complexity region 2037 2049 N/A INTRINSIC
low complexity region 2110 2125 N/A INTRINSIC
low complexity region 2180 2197 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098259
SMART Domains Protein: ENSMUSP00000095859
Gene: ENSMUSG00000047248

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
low complexity region 406 417 N/A INTRINSIC
C2 524 662 2.36e1 SMART
C2 790 899 3.73e0 SMART
C2 989 1129 1.47e1 SMART
C2 1182 1321 1.63e1 SMART
C2 1617 1724 1.43e-2 SMART
low complexity region 1892 1906 N/A INTRINSIC
low complexity region 2037 2049 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133464
SMART Domains Protein: ENSMUSP00000118864
Gene: ENSMUSG00000047248

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik G T 17: 48,400,849 (GRCm39) E45* probably null Het
4921539E11Rik T C 4: 103,112,712 (GRCm39) D132G probably benign Het
Abca16 T C 7: 120,035,918 (GRCm39) F334L possibly damaging Het
Ache T C 5: 137,288,582 (GRCm39) F96S probably damaging Het
Actg1 T C 11: 120,239,010 (GRCm39) T27A unknown Het
Ankrd27 T C 7: 35,326,911 (GRCm39) L752P probably damaging Het
Atp1a1 T A 3: 101,496,405 (GRCm39) T417S probably benign Het
Atp6v0a1 T G 11: 100,935,400 (GRCm39) L653R possibly damaging Het
Aurkb T C 11: 68,941,727 (GRCm39) V293A probably damaging Het
C2cd5 A T 6: 142,980,802 (GRCm39) D654E probably damaging Het
Cacna1s T C 1: 136,001,440 (GRCm39) V297A possibly damaging Het
Catsperg2 T C 7: 29,404,744 (GRCm39) D773G possibly damaging Het
Ccdc187 A G 2: 26,183,814 (GRCm39) L62P probably damaging Het
Cdh2 A G 18: 16,783,522 (GRCm39) V69A probably benign Het
D430041D05Rik A G 2: 103,998,280 (GRCm39) V1156A possibly damaging Het
Defb37 G A 8: 19,036,386 (GRCm39) H45Y unknown Het
Dgke T C 11: 88,939,819 (GRCm39) M367V possibly damaging Het
Dnah1 T C 14: 31,027,915 (GRCm39) K640R probably benign Het
Gm5478 A T 15: 101,554,652 (GRCm39) L148Q probably damaging Het
Hhla1 A T 15: 65,795,723 (GRCm39) S494R probably benign Het
Kcne4 G A 1: 78,795,433 (GRCm39) S27N probably benign Het
Klhdc7b A T 15: 89,271,824 (GRCm39) H244L probably damaging Het
Lrrc40 T C 3: 157,764,371 (GRCm39) S429P possibly damaging Het
Map3k21 A T 8: 126,671,361 (GRCm39) D883V probably benign Het
Med4 T C 14: 73,755,468 (GRCm39) S259P unknown Het
Mrm3 T C 11: 76,135,158 (GRCm39) I123T probably damaging Het
Mrpl1 T A 5: 96,361,646 (GRCm39) V11D probably damaging Het
Myl1 G A 1: 66,983,994 (GRCm39) P24L unknown Het
Necap2 T C 4: 140,797,531 (GRCm39) K168R probably damaging Het
Nnt A G 13: 119,505,038 (GRCm39) S559P unknown Het
Nox4 T C 7: 86,966,479 (GRCm39) F197L probably damaging Het
Nup93 T C 8: 95,007,963 (GRCm39) probably null Het
Nxph2 T C 2: 23,211,529 (GRCm39) V10A unknown Het
Or1e16 T A 11: 73,285,982 (GRCm39) I289F probably damaging Het
Or8c11 T A 9: 38,289,777 (GRCm39) V194D probably damaging Het
Or8k38 G A 2: 86,487,890 (GRCm39) T304I probably benign Het
P2ry2 G T 7: 100,647,895 (GRCm39) R137S possibly damaging Het
Plxnb3 T C X: 72,803,103 (GRCm39) Y324H probably damaging Het
Pmpca G C 2: 26,285,046 (GRCm39) E424Q possibly damaging Het
Rabep1 T A 11: 70,775,681 (GRCm39) M85K possibly damaging Het
Ranbp2 T C 10: 58,312,216 (GRCm39) Y979H probably damaging Het
Rapgef5 T C 12: 117,677,844 (GRCm39) S360P probably benign Het
Rbm33 T A 5: 28,592,970 (GRCm39) H623Q probably damaging Het
Rev1 G T 1: 38,122,868 (GRCm39) T450K possibly damaging Het
Sec23ip T A 7: 128,373,926 (GRCm39) L716Q probably benign Het
Sp2 T C 11: 96,846,739 (GRCm39) T535A possibly damaging Het
Syne1 A G 10: 5,011,463 (GRCm39) S61P probably benign Het
Tcf4 T C 18: 69,598,501 (GRCm39) V72A probably benign Het
Tmem131 G A 1: 36,833,902 (GRCm39) S1726F probably damaging Het
Trim13 T C 14: 61,842,921 (GRCm39) Y313H probably benign Het
Ttn A G 2: 76,611,437 (GRCm39) V17365A possibly damaging Het
Uap1l1 G A 2: 25,255,422 (GRCm39) A69V probably benign Het
Upp2 A G 2: 58,670,068 (GRCm39) D258G probably benign Het
Vmn1r44 A T 6: 89,870,701 (GRCm39) H149L possibly damaging Het
Zbtb49 T C 5: 38,358,453 (GRCm39) D600G probably benign Het
Zfp869 G T 8: 70,160,305 (GRCm39) H89Q 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
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
Predicted Primers PCR Primer
(F):5'- GCATTTCCTCCAATTCACAGCG -3'
(R):5'- CAGTTTCCTTTGTGCGAAGGC -3'

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