Incidental Mutation 'R9801:Pemt'
ID 735220
Institutional Source Beutler Lab
Gene Symbol Pemt
Ensembl Gene ENSMUSG00000000301
Gene Name phosphatidylethanolamine N-methyltransferase
Synonyms Pempt, Pempt2
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9801 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 59861440-59937315 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59874287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 101 (N101I)
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: N64I

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000000310
Gene: ENSMUSG00000000301
AA Change: N64I

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: N64I

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099753
Gene: ENSMUSG00000000301
AA Change: N64I

DomainStartEndE-ValueType
transmembrane domain 15 32 N/A INTRINSIC
Pfam:PEMT 88 192 1.5e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102693
AA Change: N101I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099754
Gene: ENSMUSG00000000301
AA Change: N101I

DomainStartEndE-ValueType
transmembrane domain 51 70 N/A INTRINSIC
Pfam:PEMT 125 229 1.2e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000147422
AA Change: N64I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116314
Gene: ENSMUSG00000000301
AA Change: N64I

DomainStartEndE-ValueType
transmembrane domain 15 32 N/A INTRINSIC
Pfam:PEMT 53 105 8.9e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000148512
AA Change: N65I

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120364
Gene: ENSMUSG00000000301
AA Change: N65I

DomainStartEndE-ValueType
transmembrane domain 47 69 N/A INTRINSIC
Pfam:PEMT 89 128 4.2e-9 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.4%
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A T 12: 72,945,540 (GRCm39) N330K probably benign Het
4933402J07Rik A G 8: 88,290,717 (GRCm39) E25G probably damaging Het
Acss3 T C 10: 106,881,091 (GRCm39) T297A possibly damaging Het
Anks1 A G 17: 28,227,033 (GRCm39) E562G possibly damaging Het
Atg12 T C 18: 46,874,460 (GRCm39) T52A probably benign Het
Bbox1 T A 2: 110,100,418 (GRCm39) T260S probably benign Het
Btbd3 C T 2: 138,122,368 (GRCm39) R173* probably null Het
Cbr1 A C 16: 93,406,687 (GRCm39) R134S probably damaging Het
Cdcp2 A T 4: 106,964,262 (GRCm39) I371F possibly damaging Het
Cntrob T C 11: 69,212,233 (GRCm39) E124G possibly damaging Het
Cstf3 T C 2: 104,421,024 (GRCm39) S2P possibly damaging Het
Ctbs T C 3: 146,169,679 (GRCm39) V312A probably damaging Het
Cylc2 T A 4: 51,228,466 (GRCm39) V179E probably null Het
Dip2c T C 13: 9,626,936 (GRCm39) L658P probably damaging Het
Dus4l A G 12: 31,698,827 (GRCm39) I59T probably damaging Het
Extl3 A T 14: 65,314,782 (GRCm39) N133K probably benign Het
Fam83d T A 2: 158,610,310 (GRCm39) C93S probably damaging Het
Galr1 T C 18: 82,423,912 (GRCm39) S122G possibly damaging Het
Glra3 G A 8: 56,563,563 (GRCm39) V353M probably damaging Het
H2-M10.4 A T 17: 36,771,511 (GRCm39) N222K probably damaging Het
Klra7 C T 6: 130,205,477 (GRCm39) probably null Het
Lyst T A 13: 13,809,290 (GRCm39) V320E probably damaging Het
Me3 A C 7: 89,435,657 (GRCm39) D164A probably damaging Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Nbr1 C A 11: 101,447,025 (GRCm39) Q4K probably damaging Het
Nr1i3 T C 1: 171,045,252 (GRCm39) L300P probably damaging Het
Pkd1l1 C A 11: 8,908,964 (GRCm39) E347* probably null Het
Plxna4 C T 6: 32,140,526 (GRCm39) probably null Het
Polq C T 16: 36,913,190 (GRCm39) R2420C probably damaging Het
Psg22 T C 7: 18,456,899 (GRCm39) Y261H probably benign Het
Pum1 C T 4: 130,481,328 (GRCm39) S722L probably benign Het
Rbl2 T C 8: 91,822,229 (GRCm39) Y464H probably benign Het
Rnf145 T A 11: 44,448,112 (GRCm39) I323N probably damaging Het
Rxylt1 T A 10: 121,926,608 (GRCm39) N168I probably damaging Het
Scgb2b7 A T 7: 31,404,580 (GRCm39) V40E probably damaging Het
Slmap G A 14: 26,143,595 (GRCm39) A764V probably damaging Het
Smarca4 G T 9: 21,586,397 (GRCm39) L1139F probably damaging Het
Svil A G 18: 5,049,062 (GRCm39) E113G probably damaging Het
Taf4b T C 18: 14,932,235 (GRCm39) S196P probably benign Het
Tcp10b A G 17: 13,281,867 (GRCm39) E79G possibly damaging Het
Tet3 T A 6: 83,346,436 (GRCm39) N1334Y possibly damaging Het
Tll2 A G 19: 41,194,993 (GRCm39) V31A probably benign Het
Trappc10 A G 10: 78,045,263 (GRCm39) I475T probably benign Het
Uba3 T A 6: 97,162,635 (GRCm39) D387V probably benign Het
Vwa1 G A 4: 155,857,336 (GRCm39) P154L probably damaging Het
Zfp260 T C 7: 29,804,937 (GRCm39) I279T possibly 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
R7253:Pemt UTSW 11 59,862,081 (GRCm39) missense possibly damaging 0.95
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
Predicted Primers PCR Primer
(F):5'- GAAATGTCACATCCAAGATCACATG -3'
(R):5'- GCATCTTCCTTGGAACTGGG -3'

Sequencing Primer
(F):5'- AGATCACATGAATGTCTCTGCC -3'
(R):5'- CTTCCTTGGAACTGGGCCTGG -3'
Posted On 2022-11-14