Incidental Mutation 'IGL01951:Lpcat2'
ID181025
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: 0.098) question?
Stock #IGL01951
Quality Score
Status
Chromosome8
Chromosomal Location92855339-92919279 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 92918047 bp
ZygosityHeterozygous
Amino Acid Change Serine to Isoleucine at position 448 (S448I)
Ref Sequence ENSEMBL: ENSMUSP00000147941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046290] [ENSMUST00000209265] [ENSMUST00000210099]
Predicted Effect probably benign
Transcript: ENSMUST00000046290
AA Change: S488I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000049252
Gene: ENSMUSG00000033192
AA Change: S488I

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: S448I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A G 4: 103,235,668 I152T probably damaging Het
A2m C T 6: 121,667,190 T949I possibly damaging Het
Begain T A 12: 109,033,645 Y605F probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cavin2 A G 1: 51,289,411 E9G possibly damaging Het
Cdh16 A G 8: 104,617,691 V72A probably damaging Het
Dgkd T C 1: 87,916,916 L268P probably damaging Het
Eps8 T A 6: 137,537,671 Y28F possibly damaging Het
Erap1 T C 13: 74,675,295 I816T probably damaging Het
Fli1 A T 9: 32,461,364 F126Y probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21957 A T 7: 125,219,832 noncoding transcript Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Gm9833 G A 3: 10,089,058 V296M probably damaging Het
Hectd1 T A 12: 51,794,497 R618* probably null Het
Homez T C 14: 54,858,176 E25G probably damaging Het
Ifngr1 C A 10: 19,609,454 N400K possibly damaging Het
Lin7a G A 10: 107,412,025 V186I possibly damaging Het
Lrp10 C A 14: 54,468,662 Y436* probably null Het
Myo1f A G 17: 33,598,017 H707R possibly damaging Het
Neurl4 A G 11: 69,909,623 N1147D probably damaging Het
Olfr1272 G T 2: 90,282,007 D189E probably damaging Het
Olfr1414 T C 1: 92,511,131 D299G probably null Het
Pak6 T C 2: 118,693,260 S299P probably benign Het
Panx2 A G 15: 89,068,767 D487G probably damaging Het
Sbspon T C 1: 15,858,934 N211S probably benign Het
Sgsm1 T A 5: 113,286,767 probably benign Het
Slc38a4 T C 15: 97,019,763 Y27C probably benign Het
Sorbs1 A G 19: 40,318,016 probably benign Het
Ssh1 A T 5: 113,966,247 Y35N possibly damaging Het
Stx2 A T 5: 128,992,265 F127L probably damaging Het
Synm A T 7: 67,739,137 I325N probably damaging Het
Szt2 A G 4: 118,376,493 probably benign Het
Tbc1d23 A G 16: 57,186,685 probably benign Het
Tmem50a T C 4: 134,898,428 probably benign Het
Tpx2 T G 2: 152,884,176 L354V probably benign Het
Trafd1 G A 5: 121,374,031 R399C possibly damaging Het
Trem3 C T 17: 48,249,875 R125W probably damaging Het
Ubp1 T A 9: 113,951,618 Y92* probably null Het
Wnk1 T A 6: 119,963,485 T62S probably damaging Het
Zbtb6 T C 2: 37,429,331 E195G probably benign Het
Zc3h15 A G 2: 83,661,485 D306G probably damaging Het
Other mutations in Lpcat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00737:Lpcat2 APN 8 92909206 missense probably damaging 1.00
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
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
R7981:Lpcat2 UTSW 8 92855554 missense probably damaging 1.00
R7992:Lpcat2 UTSW 8 92855558 missense probably damaging 1.00
Posted On2014-05-07