Incidental Mutation 'IGL02957:Lpcat2'
ID365165
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: 0.148) question?
Stock #IGL02957
Quality Score
Status
Chromosome8
Chromosomal Location92855339-92919279 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 92875584 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 224 (Y224*)
Ref Sequence ENSEMBL: ENSMUSP00000147941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046290] [ENSMUST00000209265] [ENSMUST00000210099]
Predicted Effect probably null
Transcript: ENSMUST00000046290
AA Change: Y264*
SMART Domains Protein: ENSMUSP00000049252
Gene: ENSMUSG00000033192
AA Change: Y264*

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 probably benign
Transcript: ENSMUST00000209265
Predicted Effect probably null
Transcript: ENSMUST00000210099
AA Change: Y224*
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630095E13Rik G T 9: 36,637,850 T38K probably benign Het
Abi2 A G 1: 60,470,786 D262G probably damaging Het
Ahcyl1 G T 3: 107,667,642 Q462K probably damaging Het
Btbd11 T A 10: 85,633,837 M405K probably damaging Het
Btbd11 C T 10: 85,631,286 probably benign Het
C8b A G 4: 104,766,455 T20A probably benign Het
Casd1 T A 6: 4,634,068 Y594N possibly damaging Het
Crtc2 C T 3: 90,262,533 P412L probably damaging Het
Cyp3a44 T A 5: 145,779,662 R373* probably null Het
Dnah10 A G 5: 124,763,133 D1277G probably benign Het
Dnah2 A T 11: 69,448,507 V3058E possibly damaging Het
Eif3l T C 15: 79,089,828 L481P probably benign Het
Fbxw7 A T 3: 84,976,237 T573S probably benign Het
Fcgbp C A 7: 28,091,847 Y844* probably null Het
Fcrls C A 3: 87,262,194 V13F possibly damaging Het
Gbx2 T G 1: 89,930,653 S35R probably benign Het
Gm10767 A T 13: 66,908,213 probably benign Het
H2-M9 A G 17: 36,642,157 L86S probably benign Het
Hebp1 C T 6: 135,137,992 G157D probably benign Het
Igf2bp3 C A 6: 49,087,404 V560L probably benign Het
Igsf10 A G 3: 59,330,864 I632T probably damaging Het
Kcnab2 A T 4: 152,435,869 S5T possibly damaging Het
Kcnh5 T C 12: 75,007,665 S502G probably benign Het
Mcrip2 A G 17: 25,868,525 V24A probably damaging Het
Mttp T C 3: 138,109,081 K493E possibly damaging Het
Myl7 A G 11: 5,897,137 S139P possibly damaging Het
Npepps C T 11: 97,242,652 R268H probably damaging Het
Oas1c C T 5: 120,805,413 W18* probably null Het
Olfr1328 G T 4: 118,934,119 T241N probably damaging Het
P4ha3 T C 7: 100,318,905 probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Pkhd1l1 T A 15: 44,512,908 W989R probably damaging Het
Podxl A G 6: 31,528,449 probably benign Het
Pot1b T C 17: 55,700,009 Y36C probably damaging Het
Ppme1 A T 7: 100,338,440 I103K possibly damaging Het
Ppp1r12a T C 10: 108,198,918 I108T probably damaging Het
Pramel1 A G 4: 143,397,598 H281R probably benign Het
Prep T C 10: 45,126,030 V427A probably benign Het
Prkce A G 17: 86,496,026 D451G possibly damaging Het
Prrc2c A G 1: 162,706,535 probably benign Het
Rrm2 A G 12: 24,708,441 N32S probably damaging Het
Sema6a A G 18: 47,249,224 L752P probably damaging Het
Sik3 T A 9: 46,195,845 I429N possibly damaging Het
Slc22a29 A G 19: 8,169,990 L336P probably benign Het
Stk32a A T 18: 43,311,992 M284L probably benign Het
Syde2 T C 3: 145,989,179 probably benign Het
Tcta G A 9: 108,305,332 S91F possibly damaging Het
Traf3ip2 A T 10: 39,654,410 T517S probably damaging Het
Trpv3 A G 11: 73,285,872 Y359C probably damaging Het
Vmn1r66 A G 7: 10,274,810 S99P probably damaging Het
Vmn2r8 G A 5: 108,802,225 T252M probably benign Het
Wdr27 A T 17: 14,910,110 probably benign Het
Yipf1 A G 4: 107,336,150 T78A probably damaging Het
Zfp735 A T 11: 73,710,929 Y233F probably benign 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
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
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 On2015-12-18