Mutagenetix > Incidental Mutation

Incidental Mutation 'R7344:Lpcat2'

570094

Institutional Source

Beutler Lab

Gene Symbol

Lpcat2

Ensembl Gene

ENSMUSG00000033192

Gene Name

lysophosphatidylcholine acyltransferase 2

Synonyms

LPCAT2, Aytl1, Aytl1a, lysoPAFAT/LPCAT2

MMRRC Submission

045434-MU

Accession Numbers

Essential gene?

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

Stock #

R7344 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93581967-93645907 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93602195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 259 (W259R)

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: W259R

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049252
Gene: ENSMUSG00000033192
AA Change: W259R

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

probably benign
Transcript: ENSMUST00000209265

Predicted Effect

probably damaging
Transcript: ENSMUST00000210099
AA Change: W219R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (58/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	A	C	11: 58,182,273 (GRCm39)	Y216S		Het
Anpep	G	T	7: 79,488,398 (GRCm39)	S477R	possibly damaging	Het
Atp7b	T	C	8: 22,487,515 (GRCm39)	D1293G	probably damaging	Het
Caprin2	A	G	6: 148,774,565 (GRCm39)	V249A	probably benign	Het
Cep41	C	T	6: 30,693,655 (GRCm39)	R5K	probably benign	Het
Cyp2c23	A	T	19: 44,010,176 (GRCm39)		probably null	Het
Dazap2	T	A	15: 100,514,824 (GRCm39)	V15E	possibly damaging	Het
Ecpas	A	T	4: 58,824,770 (GRCm39)	D1070E	probably benign	Het
Epha8	T	A	4: 136,661,849 (GRCm39)	H582L	probably benign	Het
Fam193a	A	G	5: 34,643,074 (GRCm39)	T1513A	possibly damaging	Het
Fancd2	T	C	6: 113,545,670 (GRCm39)	V901A	probably benign	Het
Fbl	T	A	7: 27,878,360 (GRCm39)	V284E	probably damaging	Het
Fbln2	A	G	6: 91,246,955 (GRCm39)	E1065G	probably damaging	Het
Fbxw16	A	G	9: 109,278,103 (GRCm39)	V25A	probably benign	Het
Fcgbpl1	C	T	7: 27,852,185 (GRCm39)	T1236I	possibly damaging	Het
Fcgbpl1	T	C	7: 27,839,704 (GRCm39)	S506P	possibly damaging	Het
Gm11562	T	G	11: 99,511,195 (GRCm39)	T2P	unknown	Het
Gm17728	G	T	17: 9,640,955 (GRCm39)	G22W	probably damaging	Het
Gm30083	A	G	14: 33,721,537 (GRCm39)	Y190H	probably benign	Het
Gm6793	T	A	8: 112,741,561 (GRCm39)	D27V	probably damaging	Het
Gm7324	A	G	14: 43,952,134 (GRCm39)	D259G	probably benign	Het
Gtf2a1l	G	A	17: 89,001,531 (GRCm39)	G129D	probably damaging	Het
Ildr2	T	A	1: 166,122,166 (GRCm39)	V203E	probably damaging	Het
Ipo4	C	T	14: 55,872,988 (GRCm39)	R23Q	probably benign	Het
Irx5	A	G	8: 93,086,183 (GRCm39)	T89A	probably benign	Het
Itga7	A	G	10: 128,776,798 (GRCm39)	N221S	possibly damaging	Het
Lrrc8e	C	T	8: 4,284,815 (GRCm39)	R347C	probably damaging	Het
Lyst	T	A	13: 13,881,140 (GRCm39)	D2790E	probably benign	Het
Magi2	G	A	5: 20,755,238 (GRCm39)	R604Q	probably benign	Het
Mertk	C	A	2: 128,613,417 (GRCm39)	H478N	probably benign	Het
Mical3	T	A	6: 121,013,505 (GRCm39)	K293*	probably null	Het
Nod2	T	C	8: 89,387,210 (GRCm39)	L168P	probably damaging	Het
Npnt	T	C	3: 132,614,100 (GRCm39)		probably null	Het
Or1x6	T	G	11: 50,939,122 (GRCm39)	F63V	probably damaging	Het
Or5af1	A	T	11: 58,722,308 (GRCm39)	E109D	probably damaging	Het
Or8b37	T	C	9: 37,959,253 (GRCm39)	M245T	probably benign	Het
Or9g4	A	T	2: 85,505,275 (GRCm39)	Y73*	probably null	Het
Plcd4	A	T	1: 74,593,811 (GRCm39)	D312V	probably damaging	Het
Prss58	A	G	6: 40,872,399 (GRCm39)	I208T	probably damaging	Het
Pus7l	A	G	15: 94,438,498 (GRCm39)	S116P	probably benign	Het
Rcc1l	A	T	5: 134,205,276 (GRCm39)	I93N	probably benign	Het
Rftn2	A	C	1: 55,265,311 (GRCm39)	Y36*	probably null	Het
Rp1l1	G	A	14: 64,267,069 (GRCm39)	R885Q	probably benign	Het
Rpgrip1	A	T	14: 52,378,116 (GRCm39)	D488V	probably damaging	Het
Sacs	A	G	14: 61,444,893 (GRCm39)	Y2313C	possibly damaging	Het
Scrib	T	C	15: 75,921,107 (GRCm39)	Y1332C	probably damaging	Het
Serpinb10	T	C	1: 107,468,672 (GRCm39)	V105A	probably damaging	Het
Slc35d1	A	T	4: 103,070,243 (GRCm39)		probably null	Het
Slfn3	T	C	11: 83,103,648 (GRCm39)	V173A	probably benign	Het
Smpd3	C	T	8: 106,991,825 (GRCm39)	V243M	probably damaging	Het
Stard9	A	T	2: 120,535,167 (GRCm39)	D3808V	possibly damaging	Het
Supt16	A	T	14: 52,411,028 (GRCm39)	V692D	probably damaging	Het
Tapt1	A	T	5: 44,345,999 (GRCm39)	V317E	probably damaging	Het
Vmn2r101	T	C	17: 19,832,059 (GRCm39)	I685T	probably benign	Het
Vmn2r92	A	G	17: 18,387,513 (GRCm39)	I173V	probably benign	Het
Vps54	T	C	11: 21,224,999 (GRCm39)	I165T	probably damaging	Het
Zswim4	G	A	8: 84,950,327 (GRCm39)	R628*	probably null	Het
Zzz3	T	C	3: 152,157,736 (GRCm39)	S770P	probably damaging	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
IGL02491:Lpcat2	APN	8	93,600,879 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TCTCTGTGCAGCTGTATAGTCAG -3'
(R):5'- TGGACAAGAAGGTAATACTGTCCC -3'

Sequencing Primer
(F):5'- TACTCTAGAAAAAGTCTACACGAGTC -3'
(R):5'- GGTAATACTGTCCCCAGAGATACG -3'

Posted On

2019-09-13