Incidental Mutation 'R2047:Lpcat4'
ID 222069
Institutional Source Beutler Lab
Gene Symbol Lpcat4
Ensembl Gene ENSMUSG00000027134
Gene Name lysophosphatidylcholine acyltransferase 4
Synonyms Agpat7, LPEAT2, Aytl3
MMRRC Submission 040054-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.897) question?
Stock # R2047 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 112070186-112077456 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 112075142 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028554] [ENSMUST00000043970]
AlphaFold Q6NVG1
Predicted Effect probably null
Transcript: ENSMUST00000028554
SMART Domains Protein: ENSMUSP00000028554
Gene: ENSMUSG00000027134

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
Meta Mutation Damage Score 0.9597 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 100% (57/57)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik A G 7: 130,747,836 (GRCm39) F52S probably damaging Het
Acot12 T C 13: 91,931,122 (GRCm39) S457P probably damaging Het
Adcy5 G A 16: 35,110,478 (GRCm39) V882M possibly damaging Het
Ahnak A G 19: 8,991,664 (GRCm39) D4316G possibly damaging Het
Aldh1l2 G A 10: 83,342,607 (GRCm39) A401V probably damaging Het
Apol7e A G 15: 77,601,810 (GRCm39) H136R probably benign Het
Arl5a A G 2: 52,302,072 (GRCm39) probably null Het
Asns G T 6: 7,680,093 (GRCm39) A341E probably damaging Het
C7 A G 15: 5,075,143 (GRCm39) L183P probably damaging Het
Cacng2 C T 15: 78,003,037 (GRCm39) A19T probably damaging Het
Ccdc121rt2 A G 5: 112,598,575 (GRCm39) N374S probably benign Het
Ccr4 A G 9: 114,321,633 (GRCm39) F144S probably damaging Het
Ckap2 A G 8: 22,658,763 (GRCm39) V660A probably benign Het
Cramp1 A T 17: 25,222,189 (GRCm39) Y176* probably null Het
Dgki A G 6: 36,890,581 (GRCm39) S922P possibly damaging Het
Drd5 C T 5: 38,477,679 (GRCm39) S224L probably damaging Het
Ei24 T C 9: 36,691,459 (GRCm39) K341E probably benign Het
Eno2 A T 6: 124,744,659 (GRCm39) probably benign Het
Epb41l4a T C 18: 33,961,259 (GRCm39) N425S probably benign Het
F13b T G 1: 139,435,961 (GRCm39) C256G probably damaging Het
Gp6 A T 7: 4,376,270 (GRCm39) probably benign Het
H2-Q7 A T 17: 35,659,123 (GRCm39) R191S probably damaging Het
Ivns1abp T A 1: 151,227,382 (GRCm39) S63R possibly damaging Het
Kcnj16 A G 11: 110,915,946 (GRCm39) probably null Het
Lrrc14b T C 13: 74,511,561 (GRCm39) K173R probably benign Het
Maml3 C A 3: 51,597,866 (GRCm39) R939S probably damaging Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
Mrpl46 T A 7: 78,431,312 (GRCm39) Y82F probably damaging Het
Mthfs T A 9: 89,097,356 (GRCm39) I71N probably damaging Het
Nectin4 T C 1: 171,212,720 (GRCm39) V351A possibly damaging Het
Npas3 T C 12: 54,115,612 (GRCm39) F827L probably damaging Het
Nrp1 G A 8: 129,224,577 (GRCm39) probably benign Het
Ocln C A 13: 100,671,632 (GRCm39) A242S probably damaging Het
Or10ad1c T A 15: 98,084,920 (GRCm39) T253S probably damaging Het
Or13g1 G A 7: 85,956,012 (GRCm39) T103I probably damaging Het
Or5d37 A T 2: 87,924,237 (GRCm39) N14K probably benign Het
Pappa T C 4: 65,149,378 (GRCm39) probably benign Het
Ptpn6 T C 6: 124,698,752 (GRCm39) T480A probably benign Het
Pycr1 A T 11: 120,532,512 (GRCm39) D168E possibly damaging Het
Rnf6 T C 5: 146,148,674 (GRCm39) T126A probably damaging Het
Slc25a39 G A 11: 102,296,657 (GRCm39) probably benign Het
Slc35f4 G T 14: 49,541,029 (GRCm39) probably benign Het
Sppl2a C T 2: 126,768,772 (GRCm39) A112T probably damaging Het
Sptbn1 A C 11: 30,088,360 (GRCm39) probably benign Het
Sqle T C 15: 59,197,907 (GRCm39) Y376H probably benign Het
Terb1 A T 8: 105,212,094 (GRCm39) Y296N probably damaging Het
Ttbk2 T C 2: 120,579,397 (GRCm39) H506R probably damaging Het
Ttn T C 2: 76,737,879 (GRCm39) D4220G probably benign Het
Tub A G 7: 108,625,939 (GRCm39) D230G probably benign Het
Ube2d3 T A 3: 135,170,967 (GRCm39) I137K probably benign Het
Vldlr G T 19: 27,212,238 (GRCm39) C84F probably damaging Het
Vmn1r54 A T 6: 90,246,970 (GRCm39) I295F probably damaging Het
Vmn2r56 A G 7: 12,466,918 (GRCm39) S39P probably damaging Het
Zfp358 A G 8: 3,545,934 (GRCm39) H172R probably damaging Het
Zfp619 T C 7: 39,187,062 (GRCm39) C1031R probably damaging Het
Zfp777 A G 6: 48,021,280 (GRCm39) I114T 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
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
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'- GAGTCAACTCTGCTGTCAACG -3'
(R):5'- ACCCATTAGCACAGAAAGGG -3'

Sequencing Primer
(F):5'- AACTCTGCTGTCAACGATTCCG -3'
(R):5'- TGGTATAAAGAGCACCTGCC -3'
Posted On 2014-08-25