Mutagenetix > Incidental Mutation

Incidental Mutation 'R3712:Lpcat2'

259667

Institutional Source

Beutler Lab

Gene Symbol

Lpcat2

Ensembl Gene

ENSMUSG00000033192

Gene Name

lysophosphatidylcholine acyltransferase 2

Synonyms

LPCAT2, Aytl1, Aytl1a, lysoPAFAT/LPCAT2

MMRRC Submission

040705-MU

Accession Numbers

Essential gene?

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

Stock #

R3712 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93581967-93645907 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93644798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 529 (V529A)

Ref Sequence

ENSEMBL: ENSMUSP00000049252 (fasta)

Gene Model

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

AlphaFold

Q8BYI6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046290
AA Change: V529A

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000049252
Gene: ENSMUSG00000033192
AA Change: V529A

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: ENSMUST00000116963

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151106

Predicted Effect

probably benign
Transcript: ENSMUST00000209265

Predicted Effect

probably benign
Transcript: ENSMUST00000210099
AA Change: V489A

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.0620

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (59/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	C	A	16: 88,424,411 (GRCm39)	V27F	unknown	Het
Akr1c20	T	C	13: 4,560,222 (GRCm39)	E152G	probably damaging	Het
Alx4	G	A	2: 93,473,134 (GRCm39)	G44D	possibly damaging	Het
Arhgap31	T	A	16: 38,422,895 (GRCm39)	E1057V	possibly damaging	Het
Arhgef26	A	T	3: 62,331,050 (GRCm39)	D588V	probably damaging	Het
Bag2	T	A	1: 33,785,997 (GRCm39)	E108D	probably benign	Het
Ccdc162	C	T	10: 41,463,375 (GRCm39)	V183I	probably benign	Het
Ccdc83	A	G	7: 89,885,563 (GRCm39)		probably benign	Het
Ccnyl1	G	A	1: 64,753,827 (GRCm39)	E137K	probably damaging	Het
Celsr2	T	C	3: 108,308,155 (GRCm39)	T1849A	probably benign	Het
Cep192	C	A	18: 67,953,400 (GRCm39)	D472E	probably benign	Het
Cep57l1	A	G	10: 41,619,110 (GRCm39)	Y86H	probably damaging	Het
Cep95	G	T	11: 106,702,112 (GRCm39)	E370*	probably null	Het
Cldn10	A	G	14: 119,092,522 (GRCm39)	T41A	probably damaging	Het
Clptm1l	T	A	13: 73,764,157 (GRCm39)	Y426N	probably benign	Het
Dipk1b	T	C	2: 26,522,650 (GRCm39)	L33S	possibly damaging	Het
Eps15	T	C	4: 109,166,374 (GRCm39)	V89A	probably damaging	Het
Fam53b	A	G	7: 132,361,654 (GRCm39)	S125P	probably damaging	Het
Fbxo44	A	T	4: 148,240,461 (GRCm39)	W256R	probably benign	Het
Gnl2	T	C	4: 124,940,067 (GRCm39)	V313A	probably damaging	Het
Hyal4	A	G	6: 24,756,513 (GRCm39)	R244G	probably damaging	Het
Irf6	G	T	1: 192,844,931 (GRCm39)	W134L	probably benign	Het
Kcnu1	A	G	8: 26,371,448 (GRCm39)	T286A	probably damaging	Het
Lrfn2	A	G	17: 49,378,188 (GRCm39)	E423G	possibly damaging	Het
Lrp8	G	T	4: 107,705,499 (GRCm39)	R209L	probably benign	Het
Mgll	T	C	6: 88,741,570 (GRCm39)		probably benign	Het
Mix23	T	C	16: 35,901,775 (GRCm39)		probably null	Het
Mta3	A	G	17: 84,070,417 (GRCm39)	I193V	probably damaging	Het
Nedd4l	G	A	18: 65,342,790 (GRCm39)	V909I	possibly damaging	Het
Or10al5	T	A	17: 38,063,271 (GRCm39)	C175*	probably null	Het
Or3a1d	A	T	11: 74,238,023 (GRCm39)	I129N	probably damaging	Het
Or5p66	A	T	7: 107,885,663 (GRCm39)	Y223*	probably null	Het
Or6c206	A	T	10: 129,097,093 (GRCm39)	K88*	probably null	Het
Orc1	T	C	4: 108,461,218 (GRCm39)	V526A	probably damaging	Het
Pard3b	T	C	1: 62,383,137 (GRCm39)	S744P	probably damaging	Het
Pcnx3	G	A	19: 5,733,367 (GRCm39)	Q155*	probably null	Het
Pcnx3	C	G	19: 5,733,368 (GRCm39)	L1F	probably null	Het
Pdcd11	T	A	19: 47,115,684 (GRCm39)		probably benign	Het
Pi4k2a	G	A	19: 42,079,131 (GRCm39)	R64Q	probably damaging	Het
Pigt	A	G	2: 164,343,565 (GRCm39)	D347G	probably benign	Het
Rbm27	T	C	18: 42,425,177 (GRCm39)		probably benign	Het
Rpl7a-ps10	A	G	9: 97,061,926 (GRCm39)	E232G	probably damaging	Het
Rprd2	A	G	3: 95,671,872 (GRCm39)	L1177P	probably damaging	Het
Rrn3	T	A	16: 13,601,959 (GRCm39)	L71*	probably null	Het
Sbspon	A	G	1: 15,962,669 (GRCm39)	C70R	probably damaging	Het
Smtn	A	T	11: 3,482,865 (GRCm39)		probably null	Het
Son	A	G	16: 91,453,614 (GRCm39)	D787G	probably damaging	Het
Sphkap	C	T	1: 83,254,833 (GRCm39)	S972N	probably benign	Het
Spopl	C	T	2: 23,427,392 (GRCm39)	R221Q	probably damaging	Het
Srp14	A	C	2: 118,309,440 (GRCm39)	L58V	probably null	Het
Sun2	A	G	15: 79,612,114 (GRCm39)	S522P	possibly damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Trdn	T	C	10: 33,033,162 (GRCm39)	I129T	probably benign	Het
Trpv3	A	G	11: 73,169,780 (GRCm39)	K117R	probably benign	Het
Ubqlnl	A	T	7: 103,798,345 (GRCm39)	I384N	probably benign	Het
Ush2a	G	A	1: 188,542,489 (GRCm39)	G3352S	probably benign	Het
Vmn1r59	A	T	7: 5,457,637 (GRCm39)	I41K	probably damaging	Het
Vmn2r125	T	A	4: 156,702,419 (GRCm39)	Y68*	probably null	Het
Zpld1	A	T	16: 55,046,799 (GRCm39)	L390*	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTTTCCTCATGCCAAGAAAAC -3'
(R):5'- AGCTTACTTGATACAGGCAGG -3'

Sequencing Primer
(F):5'- GAAAACAACCCATCCTAATTTGTTG -3'
(R):5'- AATGTGGCCAGTGAACAG -3'

Posted On

2015-01-23