Incidental Mutation 'R7434:Lpcat4'
ID 576614
Institutional Source Beutler Lab
Gene Symbol Lpcat4
Ensembl Gene ENSMUSG00000027134
Gene Name lysophosphatidylcholine acyltransferase 4
Synonyms Agpat7, LPEAT2, Aytl3
MMRRC Submission 045511-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.897) question?
Stock # R7434 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 112070186-112077456 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112073400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 235 (N235S)
Ref Sequence ENSEMBL: ENSMUSP00000028554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028554] [ENSMUST00000043970]
AlphaFold Q6NVG1
Predicted Effect probably damaging
Transcript: ENSMUST00000028554
AA Change: N235S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028554
Gene: ENSMUSG00000027134
AA Change: N235S

DomainStartEndE-ValueType
transmembrane domain 40 62 N/A INTRINSIC
low complexity region 92 113 N/A INTRINSIC
PlsC 123 234 5.73e-24 SMART
low complexity region 411 422 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000043970
SMART Domains Protein: ENSMUSP00000048263
Gene: ENSMUSG00000041358

DomainStartEndE-ValueType
Pfam:NUT 14 541 1.4e-210 PFAM
low complexity region 840 854 N/A INTRINSIC
Pfam:NUT 900 1123 6.7e-40 PFAM
Meta Mutation Damage Score 0.0959 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (43/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the 1-acylglycerol-3-phosphate O-acyltransferase (EC 2.3.1.51) family, such as AGPAT7, catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA), a precursor in the biosynthesis of all glycerolipids. Both LPA and PA are involved in signal transduction (Ye et al., 2005 [PubMed 16243729]).[supplied by OMIM, May 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 T C 4: 86,344,115 (GRCm39) V1731A probably damaging Het
Bcat2 A G 7: 45,225,429 (GRCm39) probably null Het
Bcl6 T G 16: 23,788,798 (GRCm39) E523D possibly damaging Het
Cdcp3 C T 7: 130,881,212 (GRCm39) S1828F unknown Het
Col4a2 T A 8: 11,471,250 (GRCm39) N503K probably damaging Het
Cyb5r1 G A 1: 134,335,576 (GRCm39) C166Y probably benign Het
Cyp2w1 T C 5: 139,342,775 (GRCm39) V490A possibly damaging Het
Erich6b A G 14: 75,901,024 (GRCm39) I113V probably benign Het
Fabp12 C T 3: 10,312,738 (GRCm39) V95I probably benign Het
Gask1b T A 3: 79,848,669 (GRCm39) F472I probably damaging Het
Gpr3 T C 4: 132,938,448 (GRCm39) M75V probably benign Het
Grm5 T G 7: 87,779,682 (GRCm39) S1073A probably benign Het
Hoxc9 A G 15: 102,892,414 (GRCm39) K209R probably damaging Het
Irgm2 T G 11: 58,110,291 (GRCm39) V6G probably benign Het
Jakmip2 A G 18: 43,690,444 (GRCm39) V627A possibly damaging Het
Kansl1l C G 1: 66,801,262 (GRCm39) S568T probably damaging Het
Lims1 A G 10: 58,230,301 (GRCm39) T21A probably benign Het
Lpar2 G T 8: 70,279,165 (GRCm39) A320S probably benign Het
Ly6g2 T C 15: 75,088,567 (GRCm39) F12L probably benign Het
Meis1 A T 11: 18,835,542 (GRCm39) S359T unknown Het
Mtor C T 4: 148,549,416 (GRCm39) T600I probably benign Het
Ncbp1 T C 4: 46,149,910 (GRCm39) S144P probably damaging Het
Ncor1 T C 11: 62,274,025 (GRCm39) E205G probably damaging Het
Nid1 T C 13: 13,643,049 (GRCm39) I329T probably benign Het
Nos3 T C 5: 24,587,633 (GRCm39) I1031T probably damaging Het
Nyap1 A G 5: 137,734,530 (GRCm39) S168P probably damaging Het
Or56a4 A G 7: 104,806,106 (GRCm39) V261A probably damaging Het
Pam T A 1: 97,903,515 (GRCm39) K73* probably null Het
Pcdhga11 T C 18: 37,891,005 (GRCm39) V671A probably benign Het
Ptpn18 G A 1: 34,512,445 (GRCm39) D417N possibly damaging Het
Ric1 A G 19: 29,552,180 (GRCm39) D317G probably damaging Het
Scn1a T C 2: 66,103,389 (GRCm39) E1957G probably benign Het
Srcap T C 7: 127,159,414 (GRCm39) S3097P unknown Het
Tas2r113 C T 6: 132,870,272 (GRCm39) T100I probably benign Het
Tnni1 A G 1: 135,735,260 (GRCm39) D57G Het
Trim29 G A 9: 43,246,428 (GRCm39) V575I probably damaging Het
Trpv3 G A 11: 73,179,087 (GRCm39) V499M probably damaging Het
Ubr1 C T 2: 120,693,161 (GRCm39) M1748I probably benign Het
Upk1a A T 7: 30,306,617 (GRCm39) M99K probably damaging Het
Usp16 T A 16: 87,276,207 (GRCm39) L515* probably null Het
Vmn1r103 T C 7: 20,244,435 (GRCm39) K9E probably damaging Het
Vwde A G 6: 13,187,639 (GRCm39) V616A probably benign Het
Zfp101 A T 17: 33,600,564 (GRCm39) S397R possibly damaging Het
Other mutations in Lpcat4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01905:Lpcat4 APN 2 112,073,388 (GRCm39) splice site probably null
IGL02319:Lpcat4 APN 2 112,074,229 (GRCm39) missense probably damaging 1.00
IGL02950:Lpcat4 APN 2 112,074,387 (GRCm39) missense possibly damaging 0.95
IGL03046:Lpcat4 UTSW 2 112,072,334 (GRCm39) synonymous silent
R0131:Lpcat4 UTSW 2 112,077,093 (GRCm39) missense probably damaging 0.99
R0131:Lpcat4 UTSW 2 112,077,093 (GRCm39) missense probably damaging 0.99
R0132:Lpcat4 UTSW 2 112,077,093 (GRCm39) missense probably damaging 0.99
R0271:Lpcat4 UTSW 2 112,073,590 (GRCm39) splice site probably null
R0884:Lpcat4 UTSW 2 112,073,077 (GRCm39) missense probably damaging 1.00
R1387:Lpcat4 UTSW 2 112,075,021 (GRCm39) missense probably benign
R1731:Lpcat4 UTSW 2 112,074,188 (GRCm39) missense probably damaging 1.00
R1988:Lpcat4 UTSW 2 112,072,887 (GRCm39) missense possibly damaging 0.80
R2047:Lpcat4 UTSW 2 112,075,142 (GRCm39) critical splice donor site probably null
R3924:Lpcat4 UTSW 2 112,077,061 (GRCm39) missense possibly damaging 0.54
R4001:Lpcat4 UTSW 2 112,070,296 (GRCm39) missense probably benign 0.21
R4326:Lpcat4 UTSW 2 112,076,737 (GRCm39) missense probably benign 0.00
R5247:Lpcat4 UTSW 2 112,072,860 (GRCm39) missense possibly damaging 0.64
R5959:Lpcat4 UTSW 2 112,070,380 (GRCm39) missense possibly damaging 0.88
R7239:Lpcat4 UTSW 2 112,073,052 (GRCm39) missense possibly damaging 0.77
R7880:Lpcat4 UTSW 2 112,070,376 (GRCm39) missense probably benign 0.05
R8002:Lpcat4 UTSW 2 112,074,699 (GRCm39) missense probably benign 0.21
R9228:Lpcat4 UTSW 2 112,072,418 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- ACCTCTCTGACAAGGTGAGTC -3'
(R):5'- GTGTCCTGTGGGAAAAGCAG -3'

Sequencing Primer
(F):5'- TCAGAGAGGAAATTCTTGGTAGAGC -3'
(R):5'- CAGAGGTTAGTTCTCTTCCTGGAAAC -3'
Posted On 2019-10-07