Incidental Mutation 'IGL00737:Lpcat2'
ID11796
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lpcat2
Ensembl Gene ENSMUSG00000033192
Gene Namelysophosphatidylcholine acyltransferase 2
SynonymslysoPAFAT/LPCAT2, LPCAT2, Aytl1a, Aytl1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock #IGL00737
Quality Score
Status
Chromosome8
Chromosomal Location92855339-92919279 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 92909206 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 372 (D372G)
Ref Sequence ENSEMBL: ENSMUSP00000147941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046290] [ENSMUST00000209265] [ENSMUST00000210099]
Predicted Effect probably damaging
Transcript: ENSMUST00000046290
AA Change: D412G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049252
Gene: ENSMUSG00000033192
AA Change: D412G

DomainStartEndE-ValueType
low complexity region 5 12 N/A INTRINSIC
low complexity region 35 45 N/A INTRINSIC
transmembrane domain 59 81 N/A INTRINSIC
PlsC 140 251 2.78e-22 SMART
Blast:PlsC 284 326 3e-19 BLAST
EFh 395 423 4.49e-4 SMART
EFh 432 460 6.11e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116963
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151106
Predicted Effect probably benign
Transcript: ENSMUST00000209265
Predicted Effect probably damaging
Transcript: ENSMUST00000210099
AA Change: D372G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the lysophospholipid acyltransferase family. The encoded enzyme may function in two ways: to catalyze the biosynthesis of platelet-activating factor (1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine) from 1-O-alkyl-sn-glycero-3-phosphocholine, and to catalyze the synthesis of glycerophospholipid precursors from arachidonyl-CoA and lysophosphatidylcholine. The encoded protein may function in membrane biogenesis and production of platelet-activating factor in inflammatory cells. The enzyme may localize to the endoplasmic reticulum and the Golgi. [provided by RefSeq, Feb 2009]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,196,997 probably benign Het
AI597479 T G 1: 43,100,858 H81Q probably benign Het
Alcam A T 16: 52,253,180 L561Q unknown Het
Cd8a T C 6: 71,373,707 V52A probably benign Het
Cpsf2 T C 12: 101,983,466 V119A probably damaging Het
Cry1 T C 10: 85,143,040 N541D probably benign Het
Dock8 A G 19: 25,182,976 T1748A probably benign Het
Kifap3 A T 1: 163,797,270 I132F probably damaging Het
Lcor A G 19: 41,552,700 T68A probably damaging Het
Mb21d1 G A 9: 78,435,488 P344L probably damaging Het
Mrpl30 G A 1: 37,895,376 R33H probably benign Het
Ncstn A G 1: 172,074,401 Y151H probably benign Het
Parp4 A G 14: 56,584,163 T2A probably damaging Het
Plxna2 G A 1: 194,746,239 probably benign Het
Pum2 A G 12: 8,733,381 Y610C probably damaging Het
Rabl6 T C 2: 25,584,120 probably benign Het
Wdr33 T A 18: 31,878,116 W273R probably damaging Het
Wdr59 T C 8: 111,458,736 N855S probably damaging Het
Wipi2 T A 5: 142,666,870 D412E probably benign Het
Zfp28 T C 7: 6,393,430 *56Q probably null Het
Zfyve16 T A 13: 92,521,118 K762* probably null Het
Other mutations in Lpcat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Lpcat2 APN 8 92864970 missense possibly damaging 0.90
IGL00911:Lpcat2 APN 8 92890710 missense probably damaging 0.99
IGL01449:Lpcat2 APN 8 92871147 missense possibly damaging 0.69
IGL01951:Lpcat2 APN 8 92918047 missense probably damaging 1.00
IGL02041:Lpcat2 APN 8 92918181 missense probably benign 0.04
IGL02491:Lpcat2 APN 8 92874251 missense probably damaging 1.00
IGL02957:Lpcat2 APN 8 92875584 nonsense probably null
R0960:Lpcat2 UTSW 8 92869710 missense probably benign
R1236:Lpcat2 UTSW 8 92886569 missense probably damaging 1.00
R1422:Lpcat2 UTSW 8 92879417 missense probably damaging 1.00
R1677:Lpcat2 UTSW 8 92864932 missense probably benign 0.08
R2048:Lpcat2 UTSW 8 92869843 missense possibly damaging 0.94
R3712:Lpcat2 UTSW 8 92918170 missense possibly damaging 0.70
R3919:Lpcat2 UTSW 8 92914274 missense probably damaging 0.99
R3951:Lpcat2 UTSW 8 92864903 missense probably benign
R4357:Lpcat2 UTSW 8 92873106 missense probably benign 0.25
R4358:Lpcat2 UTSW 8 92873106 missense probably benign 0.25
R4359:Lpcat2 UTSW 8 92873106 missense probably benign 0.25
R4401:Lpcat2 UTSW 8 92873055 missense possibly damaging 0.61
R4584:Lpcat2 UTSW 8 92889371 missense probably damaging 1.00
R5089:Lpcat2 UTSW 8 92879443 missense probably damaging 1.00
R5127:Lpcat2 UTSW 8 92909191 missense possibly damaging 0.65
R5185:Lpcat2 UTSW 8 92869737 missense probably benign 0.04
R6380:Lpcat2 UTSW 8 92886581 missense probably benign
R6974:Lpcat2 UTSW 8 92873079 missense probably damaging 1.00
R7171:Lpcat2 UTSW 8 92909266 missense probably benign 0.00
R7344:Lpcat2 UTSW 8 92875567 missense probably damaging 0.98
R7356:Lpcat2 UTSW 8 92864983 missense probably benign
R7684:Lpcat2 UTSW 8 92909195 missense possibly damaging 0.91
R7834:Lpcat2 UTSW 8 92918101 missense possibly damaging 0.63
R7917:Lpcat2 UTSW 8 92918101 missense possibly damaging 0.63
Posted On2012-12-06