Incidental Mutation 'IGL00823:Lpcat2'
ID11794
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: 0.133) question?
Stock #IGL00823
Quality Score
Status
Chromosome8
Chromosomal Location92855339-92919279 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 92864970 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Glycine at position 81 (W81G)
Ref Sequence ENSEMBL: ENSMUSP00000147941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046290] [ENSMUST00000209265] [ENSMUST00000210099]
Predicted Effect possibly damaging
Transcript: ENSMUST00000046290
AA Change: W81G

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000049252
Gene: ENSMUSG00000033192
AA Change: W81G

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: ENSMUST00000130471
Predicted Effect possibly damaging
Transcript: ENSMUST00000209265
AA Change: W81G

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000210099
AA Change: W81G

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T C 5: 76,878,534 probably benign Het
Adam5 T C 8: 24,818,742 E39G probably benign Het
Anapc7 G A 5: 122,433,477 W205* probably null Het
Arhgap5 C T 12: 52,518,742 T832I possibly damaging Het
Arhgef10 T A 8: 14,940,378 probably benign Het
Atg5 A G 10: 44,363,044 T274A probably benign Het
Baiap2l2 G T 15: 79,284,565 probably benign Het
Brap T A 5: 121,665,227 M146K probably damaging Het
Brpf1 T C 6: 113,321,886 S1074P probably benign Het
Camta1 A C 4: 151,084,601 I231R probably benign Het
Ccdc15 C T 9: 37,320,413 G205D probably benign Het
Cd6 G T 19: 10,796,394 probably benign Het
Cdh17 T G 4: 11,783,412 S219R possibly damaging Het
Cgn G A 3: 94,767,209 R873W probably damaging Het
Ctnna3 C T 10: 63,537,543 P41L possibly damaging Het
Dmbt1 T C 7: 131,058,158 W484R probably benign Het
Dmd A G X: 84,425,813 probably null Het
Dnah17 C T 11: 118,047,161 V3347I probably benign Het
Fam122b A T X: 53,245,331 C222S probably damaging Het
Fgd5 T A 6: 91,988,459 S400T possibly damaging Het
Kitl C A 10: 100,087,344 probably benign Het
Lamc3 A T 2: 31,918,521 D763V probably damaging Het
Lgmn T C 12: 102,398,176 probably benign Het
Myh13 A G 11: 67,355,947 I1165V probably benign Het
Nf1 A G 11: 79,565,517 D599G probably damaging Het
Nin T C 12: 70,014,793 N2099S probably benign Het
Nlrc4 T C 17: 74,447,990 D77G probably benign Het
Otub1 A G 19: 7,204,051 probably benign Het
Pah A G 10: 87,570,331 Y174C probably null Het
Papd4 T C 13: 93,186,397 T15A probably benign Het
Rbbp5 G A 1: 132,489,706 V88I probably damaging Het
Scn1a C T 2: 66,324,935 R560H probably benign Het
Snx5 T C 2: 144,255,565 I217V probably benign Het
Syne2 T C 12: 75,989,242 S3769P probably damaging Het
Tmem255b T C 8: 13,457,054 M261T probably benign Het
Top3b T C 16: 16,887,622 I417T probably damaging Het
Tspan2 T C 3: 102,758,233 probably null Het
Ttn T C 2: 76,709,713 T34310A possibly damaging Het
Ush2a G A 1: 188,911,443 C4334Y possibly damaging Het
Wdpcp A G 11: 21,659,995 D21G probably damaging Het
Yy2 A C X: 157,568,211 D186E probably benign Het
Other mutations in Lpcat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00737:Lpcat2 APN 8 92909206 missense probably damaging 1.00
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
Posted On2012-12-06