Mutagenetix > Incidental Mutation

Incidental Mutation 'R8482:Lpcat1'

657583

Institutional Source

Beutler Lab

Gene Symbol

Lpcat1

Ensembl Gene

ENSMUSG00000021608

Gene Name

lysophosphatidylcholine acyltransferase 1

Synonyms

2900035H07Rik, rd11, LPCAT, Aytl2

MMRRC Submission

067926-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

R8482 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73615332-73664539 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73659044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 320 (R320H)

Ref Sequence

ENSEMBL: ENSMUSP00000152190 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022099] [ENSMUST00000123766] [ENSMUST00000147566] [ENSMUST00000223060]

AlphaFold

Q3TFD2

Predicted Effect

probably benign
Transcript: ENSMUST00000022099
AA Change: R368H

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000022099
Gene: ENSMUSG00000021608
AA Change: R368H

Domain	Start	End	E-Value	Type
low complexity region	4	23	N/A	INTRINSIC
transmembrane domain	53	75	N/A	INTRINSIC
PlsC	129	239	2.91e-25	SMART
Blast:PlsC	272	314	7e-9	BLAST
EFh	383	411	5.47e-1	SMART
EFh	420	448	4.98e1	SMART
EFh	455	483	4.93e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123766

SMART Domains

Protein: ENSMUSP00000117965
Gene: ENSMUSG00000021608

Domain	Start	End	E-Value	Type
low complexity region	4	23	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147566

Predicted Effect

probably benign
Transcript: ENSMUST00000223060
AA Change: R320H

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (49/49)

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 1-acyl-sn-glycerol-3-phosphate acyltransferase family of proteins. The encoded enzyme plays a role in phospholipid metabolism, specifically in the conversion of lysophosphatidylcholine to phosphatidylcholine in the presence of acyl-CoA. This process is important in the synthesis of lung surfactant and platelet-activating factor (PAF). Elevated expression of this gene may contribute to the progression of oral squamous cell, prostate, breast, and other human cancers. [provided by RefSeq, Sep 2016]
PHENOTYPE: Some mice homozygous for a gene trapped allele exhibit neonatal lethality associated with respiratory distress, cyanosis, atelectasis, lung hemorrhage, and defective surfactant function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	G	A	7: 78,746,492 (GRCm39)	V711I	probably benign	Het
Adprh	A	T	16: 38,267,871 (GRCm39)	M138K	probably damaging	Het
Ahctf1	A	G	1: 179,591,107 (GRCm39)		probably benign	Het
Atg9a	G	A	1: 75,162,870 (GRCm39)	T410M	probably damaging	Het
Atxn1	A	T	13: 45,721,426 (GRCm39)	S156R	possibly damaging	Het
Bptf	T	C	11: 106,934,524 (GRCm39)	T2850A	probably benign	Het
Cc2d2a	A	T	5: 43,852,581 (GRCm39)	Y386F	probably damaging	Het
Ccdc97	T	C	7: 25,414,427 (GRCm39)	D109G	probably damaging	Het
Chd5	C	T	4: 152,441,147 (GRCm39)	R196*	probably null	Het
Clec4a2	T	C	6: 123,100,630 (GRCm39)		probably null	Het
Col13a1	A	G	10: 61,720,477 (GRCm39)	I317T	probably damaging	Het
D630003M21Rik	G	T	2: 158,058,852 (GRCm39)	S349R	probably benign	Het
Eml5	C	A	12: 98,842,560 (GRCm39)	L179F	probably damaging	Het
Entrep1	T	A	19: 23,965,866 (GRCm39)	N211I	probably damaging	Het
Ets2	A	T	16: 95,516,019 (GRCm39)	M200L	probably benign	Het
Fat3	T	C	9: 16,158,263 (GRCm39)	T1116A	probably benign	Het
Fhit	A	G	14: 10,751,616 (GRCm38)	V24A	probably benign	Het
Gm6685	T	C	11: 28,289,195 (GRCm39)	N207S	probably benign	Het
Hdc	G	A	2: 126,436,125 (GRCm39)	T582M	probably benign	Het
Hmgxb4	G	A	8: 75,756,222 (GRCm39)	C575Y	probably damaging	Het
Kidins220	T	A	12: 25,090,527 (GRCm39)	S1164T	probably benign	Het
Ldb1	C	A	19: 46,024,709 (GRCm39)	D5Y	probably null	Het
Lrfn4	T	C	19: 4,664,333 (GRCm39)	D67G	probably damaging	Het
Myo15b	C	T	11: 115,774,083 (GRCm39)	Q550*	probably null	Het
Myo18b	C	A	5: 113,019,489 (GRCm39)	E43*	probably null	Het
Neurl1a	T	C	19: 47,241,719 (GRCm39)	C271R	probably damaging	Het
Nfasc	T	C	1: 132,532,827 (GRCm39)	S690G	probably damaging	Het
Ngly1	T	C	14: 16,310,377 (GRCm38)	S501P	probably benign	Het
Nlrp1a	A	T	11: 70,999,901 (GRCm39)		probably null	Het
Npw	A	G	17: 24,876,396 (GRCm39)	W172R	probably benign	Het
Nudt8	T	C	19: 4,050,849 (GRCm39)		probably null	Het
Nyap2	A	T	1: 81,219,352 (GRCm39)	Y458F	probably damaging	Het
Or10ag56	G	A	2: 87,139,726 (GRCm39)	V198I	probably benign	Het
Osbpl5	T	A	7: 143,258,731 (GRCm39)	T280S	probably benign	Het
Pex1	A	T	5: 3,662,923 (GRCm39)	I505F	probably benign	Het
Pfkm	A	G	15: 98,029,864 (GRCm39)	E756G	probably benign	Het
Pkd2l2	A	G	18: 34,558,166 (GRCm39)	I282V	possibly damaging	Het
Pnpla8	T	C	12: 44,330,410 (GRCm39)	S321P	probably benign	Het
Prxl2a	C	T	14: 40,719,723 (GRCm39)	E164K	probably benign	Het
Qdpr	G	T	5: 45,596,688 (GRCm39)	Q159K	probably benign	Het
Rac2	T	C	15: 78,450,206 (GRCm39)	M45V	probably benign	Het
Rnaset2b	G	A	17: 7,263,908 (GRCm39)		probably null	Het
Rpl38	T	A	11: 114,563,114 (GRCm39)	*71R	probably null	Het
Sacs	G	T	14: 61,440,404 (GRCm39)	V817L	probably benign	Het
Selenot	T	C	3: 58,495,889 (GRCm39)	F133S	probably damaging	Het
Sgcg	G	A	14: 61,477,856 (GRCm39)	L78F	probably damaging	Het
Slc19a1	A	G	10: 76,885,497 (GRCm39)	R466G	probably benign	Het
Tpr	A	G	1: 150,309,451 (GRCm39)	T1736A	probably damaging	Het
Zfhx3	A	G	8: 109,674,511 (GRCm39)	I1854V	probably benign	Het
Zfp652	T	C	11: 95,643,719 (GRCm39)	S306P	probably damaging	Het
Zfp998	C	T	13: 66,579,797 (GRCm39)		probably benign	Het

Other mutations in Lpcat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Lpcat1	APN	13	73,642,947 (GRCm39)	missense	probably damaging	0.98
IGL02869:Lpcat1	APN	13	73,632,417 (GRCm39)	missense	probably damaging	1.00
abajo	UTSW	13	73,659,498 (GRCm39)	missense	probably damaging	1.00
R0064:Lpcat1	UTSW	13	73,662,585 (GRCm39)	missense	probably damaging	1.00
R1666:Lpcat1	UTSW	13	73,658,242 (GRCm39)	critical splice donor site	probably null
R3826:Lpcat1	UTSW	13	73,637,212 (GRCm39)	missense	possibly damaging	0.89
R3829:Lpcat1	UTSW	13	73,637,212 (GRCm39)	missense	possibly damaging	0.89
R3830:Lpcat1	UTSW	13	73,637,212 (GRCm39)	missense	possibly damaging	0.89
R4987:Lpcat1	UTSW	13	73,637,222 (GRCm39)	critical splice donor site	probably null
R6298:Lpcat1	UTSW	13	73,659,074 (GRCm39)	missense	possibly damaging	0.58
R7066:Lpcat1	UTSW	13	73,659,500 (GRCm39)	missense	probably benign	0.00
R7165:Lpcat1	UTSW	13	73,662,649 (GRCm39)	missense	probably benign	0.11
R7552:Lpcat1	UTSW	13	73,643,014 (GRCm39)	missense	probably damaging	0.99
R7961:Lpcat1	UTSW	13	73,659,498 (GRCm39)	missense	probably damaging	1.00
R8009:Lpcat1	UTSW	13	73,659,498 (GRCm39)	missense	probably damaging	1.00
R8247:Lpcat1	UTSW	13	73,662,071 (GRCm39)	missense	probably damaging	0.98
R8943:Lpcat1	UTSW	13	73,662,029 (GRCm39)	missense	probably benign	0.00
R9224:Lpcat1	UTSW	13	73,658,161 (GRCm39)	missense	probably damaging	0.98
R9229:Lpcat1	UTSW	13	73,653,650 (GRCm39)	missense	probably damaging	0.98
R9332:Lpcat1	UTSW	13	73,659,462 (GRCm39)	missense	probably damaging	1.00
R9509:Lpcat1	UTSW	13	73,642,951 (GRCm39)	missense	probably damaging	1.00
R9591:Lpcat1	UTSW	13	73,659,471 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTGCCAGACCTCAAAATGAG -3'
(R):5'- TGCACTTGGAGAACAGGCTG -3'

Sequencing Primer
(F):5'- ACAGATGGTTGTGATCCACC -3'
(R):5'- GCTGGCCGGCATCTTTG -3'

Posted On

2021-01-18