Incidental Mutation 'R7253:Pemt'
ID 564097
Institutional Source Beutler Lab
Gene Symbol Pemt
Ensembl Gene ENSMUSG00000000301
Gene Name phosphatidylethanolamine N-methyltransferase
Synonyms Pempt, Pempt2
MMRRC Submission 045314-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7253 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 59861440-59937315 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59862081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 194 (H194Q)
Ref Sequence ENSEMBL: ENSMUSP00000099754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000310] [ENSMUST00000102692] [ENSMUST00000102693] [ENSMUST00000147422] [ENSMUST00000148512]
AlphaFold Q61907
Predicted Effect possibly damaging
Transcript: ENSMUST00000000310
AA Change: H157Q

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000000310
Gene: ENSMUSG00000000301
AA Change: H157Q

DomainStartEndE-ValueType
transmembrane domain 15 32 N/A INTRINSIC
Pfam:PEMT 88 192 1.5e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000102692
AA Change: H157Q

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099753
Gene: ENSMUSG00000000301
AA Change: H157Q

DomainStartEndE-ValueType
transmembrane domain 15 32 N/A INTRINSIC
Pfam:PEMT 88 192 1.5e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000102693
AA Change: H194Q

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099754
Gene: ENSMUSG00000000301
AA Change: H194Q

DomainStartEndE-ValueType
transmembrane domain 51 70 N/A INTRINSIC
Pfam:PEMT 125 229 1.2e-36 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000147422
AA Change: H71Q
SMART Domains Protein: ENSMUSP00000116314
Gene: ENSMUSG00000000301
AA Change: H71Q

DomainStartEndE-ValueType
transmembrane domain 15 32 N/A INTRINSIC
Pfam:PEMT 53 105 8.9e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148512
SMART Domains Protein: ENSMUSP00000120364
Gene: ENSMUSG00000000301

DomainStartEndE-ValueType
transmembrane domain 47 69 N/A INTRINSIC
Pfam:PEMT 89 128 4.2e-9 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (74/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylcholine (PC) is the most abundant mammalian phospholipid. This gene encodes an enzyme which converts phosphatidylethanolamine to phosphatidylcholine by sequential methylation in the liver. Another distinct synthetic pathway in nucleated cells converts intracellular choline to phosphatidylcholine by a three-step process. The protein isoforms encoded by this gene localize to the endoplasmic reticulum and mitochondria-associated membranes. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype on normal diets but display liver abnormalities on choline deficient diets or high fat and cholesterol diets. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A G 4: 39,451,391 (GRCm39) H199R not run Het
Ak9 A G 10: 41,308,480 (GRCm39) N1804S unknown Het
Akr1c21 C A 13: 4,627,139 (GRCm39) T147N probably damaging Het
Aldh1a2 A G 9: 71,123,216 (GRCm39) T30A probably benign Het
Alox15 T C 11: 70,236,724 (GRCm39) D447G probably damaging Het
Amigo2 T C 15: 97,142,956 (GRCm39) I489V probably benign Het
Ano9 A T 7: 140,687,350 (GRCm39) Y322N probably damaging Het
Arhgap40 G T 2: 158,389,576 (GRCm39) W583L probably benign Het
Atxn2 A G 5: 121,916,084 (GRCm39) E430G probably damaging Het
Brip1 T C 11: 86,034,104 (GRCm39) Y539C possibly damaging Het
C87436 T A 6: 86,442,790 (GRCm39) L454Q probably damaging Het
Casp4 T G 9: 5,324,868 (GRCm39) Y227D probably benign Het
Ccn6 T G 10: 39,031,031 (GRCm39) N164T probably benign Het
Chd4 T A 6: 125,083,555 (GRCm39) probably null Het
Chrna10 A G 7: 101,761,293 (GRCm39) C433R probably benign Het
Cntln A T 4: 85,036,710 (GRCm39) N214I probably damaging Het
Colec12 G A 18: 9,848,922 (GRCm39) V367I probably damaging Het
Cyp46a1 T C 12: 108,318,255 (GRCm39) I222T probably benign Het
Dagla A T 19: 10,239,945 (GRCm39) probably null Het
Dcaf7 C A 11: 105,938,669 (GRCm39) probably null Het
Dclk2 C T 3: 86,700,566 (GRCm39) R638H probably damaging Het
E2f7 A G 10: 110,602,164 (GRCm39) probably null Het
Fam184a G T 10: 53,574,901 (GRCm39) T236K probably benign Het
Glyctk T C 9: 106,032,661 (GRCm39) T451A probably damaging Het
Hectd4 A G 5: 121,452,944 (GRCm39) K484E possibly damaging Het
Hspbap1 G T 16: 35,637,600 (GRCm39) C243F unknown Het
Hspg2 A C 4: 137,247,257 (GRCm39) N1160T probably benign Het
Ighv5-8 C T 12: 113,618,728 (GRCm39) L48F probably benign Het
Jazf1 C A 6: 52,754,637 (GRCm39) E146D probably benign Het
Katnb1 C T 8: 95,822,125 (GRCm39) Q284* probably null Het
Kctd18 G T 1: 58,001,115 (GRCm39) Y213* probably null Het
Klk1b26 T C 7: 43,664,213 (GRCm39) S23P possibly damaging Het
Krt88 T C 15: 101,348,392 (GRCm39) L26P probably damaging Het
Lrrc8b G A 5: 105,629,522 (GRCm39) V623I probably benign Het
Map3k4 T A 17: 12,490,955 (GRCm39) M159L probably benign Het
Mast3 C A 8: 71,242,326 (GRCm39) probably null Het
Mier1 G A 4: 102,996,544 (GRCm39) probably null Het
Mrpl46 T C 7: 78,431,207 (GRCm39) D117G probably damaging Het
Ms4a6b A G 19: 11,497,760 (GRCm39) S20G probably benign Het
Mup10 A T 4: 60,538,077 (GRCm39) M4K unknown Het
Nlrp5 C T 7: 23,116,816 (GRCm39) A180V possibly damaging Het
Nlrx1 T A 9: 44,176,001 (GRCm39) probably null Het
Odad3 T C 9: 21,913,767 (GRCm39) T2A probably damaging Het
Or2a52 T C 6: 43,144,744 (GRCm39) F251L probably damaging Het
Or2t45 T C 11: 58,669,822 (GRCm39) Y290H probably damaging Het
Or4c103 T C 2: 88,513,969 (GRCm39) T36A possibly damaging Het
Or51aa2 C T 7: 103,187,995 (GRCm39) A149T probably benign Het
Or5af2 T A 11: 58,708,366 (GRCm39) C177* probably null Het
Or5ak22 A G 2: 85,229,983 (GRCm39) I298T probably benign Het
Otud1 C A 2: 19,663,742 (GRCm39) D290E probably damaging Het
Pank4 A G 4: 155,055,377 (GRCm39) N249S probably benign Het
Pccb G T 9: 100,913,966 (GRCm39) S84R probably benign Het
Phtf2 A G 5: 20,970,856 (GRCm39) I634T possibly damaging Het
Pias2 T G 18: 77,207,811 (GRCm39) I232R probably damaging Het
Plce1 A G 19: 38,686,952 (GRCm39) E620G probably damaging Het
Pramel17 A T 4: 101,692,725 (GRCm39) V425E probably benign Het
Ptpn13 G A 5: 103,713,150 (GRCm39) E1758K possibly damaging Het
Ptprq T A 10: 107,444,134 (GRCm39) Q1490L probably benign Het
Ptx3 G T 3: 66,132,368 (GRCm39) M296I probably benign Het
R3hdm2 C T 10: 127,317,644 (GRCm39) P464L probably damaging Het
Rapgef1 A G 2: 29,589,733 (GRCm39) E258G possibly damaging Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,122 (GRCm39) probably benign Het
Senp8 T C 9: 59,644,478 (GRCm39) N226S probably benign Het
Six5 C T 7: 18,828,901 (GRCm39) R114C probably damaging Het
Slc10a1 T C 12: 81,004,958 (GRCm39) T195A probably benign Het
Slpi G T 2: 164,197,467 (GRCm39) Q51K probably benign Het
Smarca4 T C 9: 21,570,256 (GRCm39) V753A probably benign Het
Tbc1d32 C A 10: 56,074,537 (GRCm39) M225I probably benign Het
Tent5a C A 9: 85,208,770 (GRCm39) G18C probably benign Het
Tnfrsf21 G A 17: 43,348,558 (GRCm39) V57I probably benign Het
Trim44 G T 2: 102,177,313 (GRCm39) P336T possibly damaging Het
Txlnb A G 10: 17,703,633 (GRCm39) I264V probably damaging Het
Xirp2 A C 2: 67,343,826 (GRCm39) E2022D probably benign Het
Zfp975 A G 7: 42,311,036 (GRCm39) *526R probably null Het
Zp1 A G 19: 10,893,933 (GRCm39) L424P probably damaging Het
Other mutations in Pemt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01145:Pemt APN 11 59,874,293 (GRCm39) missense probably damaging 1.00
IGL02232:Pemt APN 11 59,867,680 (GRCm39) missense probably damaging 0.97
R7537:Pemt UTSW 11 59,867,670 (GRCm39) missense probably damaging 1.00
R8737:Pemt UTSW 11 59,874,285 (GRCm39) missense probably benign
R9799:Pemt UTSW 11 59,937,174 (GRCm39) missense possibly damaging 0.84
R9801:Pemt UTSW 11 59,874,287 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCTCAGGTGACAGGTGTACC -3'
(R):5'- AAATGTTCCCTGTCCCCGAG -3'

Sequencing Primer
(F):5'- GACAGGTGTACCCTCCCCATTAC -3'
(R):5'- AGGACTGTCCCACAAGGTG -3'
Posted On 2019-06-26