Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02491:Lpcat2'

295645

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lpcat2

Ensembl Gene

ENSMUSG00000033192

Gene Name

lysophosphatidylcholine acyltransferase 2

Synonyms

LPCAT2, Aytl1, Aytl1a, lysoPAFAT/LPCAT2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

IGL02491

Quality Score

Status

Chromosome

Chromosomal Location

93581967-93645907 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93600879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 241 (V241A)

Ref Sequence

ENSEMBL: ENSMUSP00000049252 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046290] [ENSMUST00000209265] [ENSMUST00000210099]

AlphaFold

Q8BYI6

Predicted Effect

probably damaging
Transcript: ENSMUST00000046290
AA Change: V241A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049252
Gene: ENSMUSG00000033192
AA Change: V241A

Domain	Start	End	E-Value	Type
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

unknown
Transcript: ENSMUST00000209265
AA Change: F221L

Predicted Effect

probably benign
Transcript: ENSMUST00000210099

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,067,794 (GRCm39)		probably benign	Het
Acacb	T	A	5: 114,330,166 (GRCm39)	I443N	probably damaging	Het
C1qtnf3	A	T	15: 10,972,067 (GRCm39)	I118F	possibly damaging	Het
Carmil3	C	T	14: 55,741,974 (GRCm39)	A1148V	probably benign	Het
Ccdc62	A	T	5: 124,099,378 (GRCm39)	S677C	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Col11a2	C	A	17: 34,283,181 (GRCm39)		probably benign	Het
Cpsf7	A	G	19: 10,517,001 (GRCm39)	I368V	possibly damaging	Het
Csmd2	T	C	4: 128,428,050 (GRCm39)	S2934P	probably benign	Het
Csmd3	A	G	15: 47,777,511 (GRCm39)		probably benign	Het
Cubn	A	G	2: 13,326,039 (GRCm39)	Y2709H	probably damaging	Het
Cyp2d12	T	A	15: 82,442,682 (GRCm39)	L375Q	possibly damaging	Het
Etv4	A	T	11: 101,674,791 (GRCm39)		probably null	Het
Exph5	T	A	9: 53,286,343 (GRCm39)	D1141E	possibly damaging	Het
Fbxo16	T	A	14: 65,558,736 (GRCm39)	H298Q	probably benign	Het
Fbxw21	T	A	9: 108,972,887 (GRCm39)	Y349F	probably benign	Het
Foxs1	G	A	2: 152,774,721 (GRCm39)	R111C	probably damaging	Het
Galnt15	T	A	14: 31,778,273 (GRCm39)	L436Q	probably damaging	Het
Gbf1	T	C	19: 46,250,979 (GRCm39)		probably benign	Het
Gm8237	A	T	14: 5,863,577 (GRCm38)	C29*	probably null	Het
Hcn1	A	G	13: 117,946,576 (GRCm39)	D317G	unknown	Het
Itgam	A	G	7: 127,715,190 (GRCm39)	N877D	possibly damaging	Het
Kcnma1	T	C	14: 23,361,757 (GRCm39)	R1047G	probably damaging	Het
Klhdc3	T	C	17: 46,988,226 (GRCm39)	R180G	possibly damaging	Het
Mnat1	A	G	12: 73,170,682 (GRCm39)	N24S	probably null	Het
Mprip	A	G	11: 59,660,857 (GRCm39)	T967A	probably benign	Het
Mtf1	T	C	4: 124,732,372 (GRCm39)	F477L	probably benign	Het
Naaladl1	A	G	19: 6,159,748 (GRCm39)	E393G	possibly damaging	Het
Or10ak7	A	T	4: 118,791,358 (GRCm39)	L229H	probably damaging	Het
Or2at1	A	G	7: 99,416,540 (GRCm39)	E57G	possibly damaging	Het
Or5e1	A	G	7: 108,354,321 (GRCm39)	K86R	probably damaging	Het
Pcdhb6	A	T	18: 37,468,735 (GRCm39)	D552V	probably damaging	Het
Pglyrp3	C	T	3: 91,921,944 (GRCm39)	S4F	possibly damaging	Het
Pramel13	A	T	4: 144,121,322 (GRCm39)	M234K	probably damaging	Het
Prss27	A	T	17: 24,263,229 (GRCm39)		probably benign	Het
Slc5a9	A	G	4: 111,753,549 (GRCm39)	S51P	probably damaging	Het
Slc6a4	A	G	11: 76,918,034 (GRCm39)	Y592C	probably damaging	Het
Slc7a13	T	A	4: 19,841,404 (GRCm39)	V417D	probably damaging	Het
Spring1	T	C	5: 118,397,160 (GRCm39)	Y130H	probably benign	Het
Syne2	A	G	12: 76,118,953 (GRCm39)	T5857A	probably benign	Het
Thap1	A	C	8: 26,650,885 (GRCm39)	S52R	probably damaging	Het
Thsd4	T	C	9: 59,907,301 (GRCm39)	N158S	probably damaging	Het
Tmem147	A	T	7: 30,427,626 (GRCm39)		probably benign	Het
Trdmt1	G	A	2: 13,521,483 (GRCm39)	A311V	probably benign	Het
U2surp	T	A	9: 95,372,273 (GRCm39)	R296S	probably damaging	Het
Upf2	A	G	2: 6,030,975 (GRCm39)	D805G	unknown	Het
Usp34	T	A	11: 23,382,630 (GRCm39)	H2057Q	probably damaging	Het
Vmn2r110	T	A	17: 20,816,400 (GRCm39)	D41V	probably damaging	Het
Vmn2r16	T	A	5: 109,487,703 (GRCm39)	L192*	probably null	Het
Vnn3	T	A	10: 23,741,816 (GRCm39)	S374T	probably benign	Het
Wdr62	A	C	7: 29,942,184 (GRCm39)	D1089E	probably benign	Het
Xdh	T	A	17: 74,193,459 (GRCm39)	D1279V	probably damaging	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zfp518b	A	G	5: 38,831,123 (GRCm39)	I294T	possibly damaging	Het
Zfp983	G	A	17: 21,876,528 (GRCm39)		probably null	Het

Other mutations in Lpcat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00737:Lpcat2	APN	8	93,635,834 (GRCm39)	missense	probably damaging	1.00
IGL00823:Lpcat2	APN	8	93,591,598 (GRCm39)	missense	possibly damaging	0.90
IGL00911:Lpcat2	APN	8	93,617,338 (GRCm39)	missense	probably damaging	0.99
IGL01449:Lpcat2	APN	8	93,597,775 (GRCm39)	missense	possibly damaging	0.69
IGL01951:Lpcat2	APN	8	93,644,675 (GRCm39)	missense	probably damaging	1.00
IGL02041:Lpcat2	APN	8	93,644,809 (GRCm39)	missense	probably benign	0.04
IGL02957:Lpcat2	APN	8	93,602,212 (GRCm39)	nonsense	probably null
R0960:Lpcat2	UTSW	8	93,596,338 (GRCm39)	missense	probably benign
R1236:Lpcat2	UTSW	8	93,613,197 (GRCm39)	missense	probably damaging	1.00
R1422:Lpcat2	UTSW	8	93,606,045 (GRCm39)	missense	probably damaging	1.00
R1677:Lpcat2	UTSW	8	93,591,560 (GRCm39)	missense	probably benign	0.08
R2048:Lpcat2	UTSW	8	93,596,471 (GRCm39)	missense	possibly damaging	0.94
R3712:Lpcat2	UTSW	8	93,644,798 (GRCm39)	missense	possibly damaging	0.70
R3919:Lpcat2	UTSW	8	93,640,902 (GRCm39)	missense	probably damaging	0.99
R3951:Lpcat2	UTSW	8	93,591,531 (GRCm39)	missense	probably benign
R4357:Lpcat2	UTSW	8	93,599,734 (GRCm39)	missense	probably benign	0.25
R4358:Lpcat2	UTSW	8	93,599,734 (GRCm39)	missense	probably benign	0.25
R4359:Lpcat2	UTSW	8	93,599,734 (GRCm39)	missense	probably benign	0.25
R4401:Lpcat2	UTSW	8	93,599,683 (GRCm39)	missense	possibly damaging	0.61
R4584:Lpcat2	UTSW	8	93,615,999 (GRCm39)	missense	probably damaging	1.00
R5089:Lpcat2	UTSW	8	93,606,071 (GRCm39)	missense	probably damaging	1.00
R5127:Lpcat2	UTSW	8	93,635,819 (GRCm39)	missense	possibly damaging	0.65
R5185:Lpcat2	UTSW	8	93,596,365 (GRCm39)	missense	probably benign	0.04
R6380:Lpcat2	UTSW	8	93,613,209 (GRCm39)	missense	probably benign
R6974:Lpcat2	UTSW	8	93,599,707 (GRCm39)	missense	probably damaging	1.00
R7171:Lpcat2	UTSW	8	93,635,894 (GRCm39)	missense	probably benign	0.00
R7344:Lpcat2	UTSW	8	93,602,195 (GRCm39)	missense	probably damaging	0.98
R7356:Lpcat2	UTSW	8	93,591,611 (GRCm39)	missense	probably benign
R7684:Lpcat2	UTSW	8	93,635,823 (GRCm39)	missense	possibly damaging	0.91
R7834:Lpcat2	UTSW	8	93,644,729 (GRCm39)	missense	possibly damaging	0.63
R7981:Lpcat2	UTSW	8	93,582,182 (GRCm39)	missense	probably damaging	1.00
R7992:Lpcat2	UTSW	8	93,582,186 (GRCm39)	missense	probably damaging	1.00
R8679:Lpcat2	UTSW	8	93,635,864 (GRCm39)	missense	probably damaging	1.00
R8815:Lpcat2	UTSW	8	93,640,979 (GRCm39)	missense	possibly damaging	0.48
R8916:Lpcat2	UTSW	8	93,596,316 (GRCm39)	missense	probably benign
R9048:Lpcat2	UTSW	8	93,635,878 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16