Incidental Mutation 'R4326:Lpcat4'
ID 324350
Institutional Source Beutler Lab
Gene Symbol Lpcat4
Ensembl Gene ENSMUSG00000027134
Gene Name lysophosphatidylcholine acyltransferase 4
Synonyms Agpat7, LPEAT2, Aytl3
MMRRC Submission 041096-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.891) question?
Stock # R4326 (G1)
Quality Score 162
Status Not validated
Chromosome 2
Chromosomal Location 112070186-112077456 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 112076737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 454 (E454K)
Ref Sequence ENSEMBL: ENSMUSP00000028554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028554] [ENSMUST00000043970]
AlphaFold Q6NVG1
Predicted Effect probably benign
Transcript: ENSMUST00000028554
AA Change: E454K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000028554
Gene: ENSMUSG00000027134
AA Change: E454K

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129503
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132314
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136219
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (57/58)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 A G 3: 121,555,119 (GRCm39) V616A probably benign Het
Abhd17a A G 10: 80,419,884 (GRCm39) S241P probably benign Het
Adamts15 T C 9: 30,815,814 (GRCm39) S681G probably benign Het
Arap2 A T 5: 62,779,206 (GRCm39) H1461Q possibly damaging Het
Armc3 A G 2: 19,305,284 (GRCm39) K681E probably damaging Het
Arrdc5 T C 17: 56,601,420 (GRCm39) E235G possibly damaging Het
Atxn1 T C 13: 46,119,443 (GRCm39) probably benign Het
C9orf72 T A 4: 35,225,985 (GRCm39) probably benign Het
Capn13 C A 17: 73,638,103 (GRCm39) K433N probably benign Het
Ccdc113 G A 8: 96,283,896 (GRCm39) M323I probably benign Het
Cd55 A T 1: 130,380,220 (GRCm39) C253S probably damaging Het
Cyp2j8 T A 4: 96,395,566 (GRCm39) T20S probably benign Het
Dnah8 G A 17: 30,971,066 (GRCm39) V2707M probably benign Het
Erlec1 C T 11: 30,899,972 (GRCm39) E166K probably benign Het
Fastkd2 A G 1: 63,791,516 (GRCm39) K675E probably benign Het
Gid4 G A 11: 60,308,662 (GRCm39) V61M possibly damaging Het
Glt28d2 G A 3: 85,779,393 (GRCm39) Q27* probably null Het
Ipo8 A T 6: 148,701,662 (GRCm39) probably benign Het
Isx A G 8: 75,600,284 (GRCm39) I6V probably benign Het
Itsn1 A G 16: 91,650,743 (GRCm39) probably benign Het
Klhl40 A G 9: 121,607,956 (GRCm39) D372G probably benign Het
Krt80 C T 15: 101,250,189 (GRCm39) V19M possibly damaging Het
Lingo2 T A 4: 35,708,462 (GRCm39) D506V probably damaging Het
Lmo7 A T 14: 102,137,510 (GRCm39) E504D possibly damaging Het
Macf1 C T 4: 123,276,005 (GRCm39) A4176T probably damaging Het
Noxo1 G A 17: 24,917,937 (GRCm39) R81H probably benign Het
Or10ab4 T C 7: 107,654,362 (GRCm39) Y58H probably damaging Het
Or7g34 T A 9: 19,478,318 (GRCm39) M121L possibly damaging Het
Pafah1b1 T C 11: 74,573,066 (GRCm39) T333A probably benign Het
Pak1ip1 A G 13: 41,158,232 (GRCm39) D35G possibly damaging Het
Pak3 T C X: 142,516,205 (GRCm39) probably null Het
Pcdhb9 A T 18: 37,534,875 (GRCm39) S290C probably benign Het
Pcdhb9 G T 18: 37,534,876 (GRCm39) S290I probably benign Het
Ppp2r2d T A 7: 138,470,214 (GRCm39) V25D probably damaging Het
Prdm15 G T 16: 97,607,715 (GRCm39) N709K probably damaging Het
Ptprs C A 17: 56,754,468 (GRCm39) A191S possibly damaging Het
Rrs1 G T 1: 9,616,566 (GRCm39) R273L possibly damaging Het
Sin3a T C 9: 57,002,642 (GRCm39) L178P probably damaging Het
Slc13a1 A G 6: 24,103,478 (GRCm39) V355A probably benign Het
Spen T G 4: 141,204,683 (GRCm39) N1315H unknown Het
Ssrp1 A G 2: 84,870,561 (GRCm39) probably benign Het
St7 G A 6: 17,819,287 (GRCm39) V64M probably damaging Het
Syne2 C A 12: 75,999,516 (GRCm39) A2304E probably damaging Het
Tcf25 T A 8: 124,127,882 (GRCm39) L622* probably null Het
Tmem107 G T 11: 68,962,301 (GRCm39) probably null Het
Tmem62 T A 2: 120,810,991 (GRCm39) N156K probably damaging Het
Wdr90 G T 17: 26,072,705 (GRCm39) R884S probably benign Het
Zfp184 T C 13: 22,144,072 (GRCm39) Y593H probably damaging Het
Zfp934 T G 13: 62,665,373 (GRCm39) N312H probably benign Het
Zfta A G 19: 7,398,591 (GRCm39) probably benign 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
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
R7434:Lpcat4 UTSW 2 112,073,400 (GRCm39) missense probably damaging 0.98
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'- GCAATGTGAGGCACTGTCTG -3'
(R):5'- AATATAGCTTGCCTCCTCTCAGAG -3'

Sequencing Primer
(F):5'- TCTGAAGGAGAAAACTTGATGCCC -3'
(R):5'- AGAGGTTCTGATCCCTGACACTG -3'
Posted On 2015-06-24