Incidental Mutation 'R2217:Gpat4'
ID 241213
Institutional Source Beutler Lab
Gene Symbol Gpat4
Ensembl Gene ENSMUSG00000031545
Gene Name glycerol-3-phosphate acyltransferase 4
Synonyms Agpat6
MMRRC Submission 040219-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.420) question?
Stock # R2217 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 23661281-23698362 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 23670171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 286 (P286L)
Ref Sequence ENSEMBL: ENSMUSP00000127325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167004] [ENSMUST00000209507]
AlphaFold Q8K2C8
Predicted Effect probably damaging
Transcript: ENSMUST00000167004
AA Change: P286L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127325
Gene: ENSMUSG00000031545
AA Change: P286L

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
transmembrane domain 156 175 N/A INTRINSIC
transmembrane domain 180 202 N/A INTRINSIC
PlsC 242 353 9.31e-24 SMART
Blast:PlsC 368 413 7e-18 BLAST
low complexity region 414 425 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210782
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210992
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211260
Meta Mutation Damage Score 0.9423 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Lysophosphatidic acid acyltransferases (EC 2.3.1.51) catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA). LPA and PA are involved in signal transduction and lipid biosynthesis.[supplied by OMIM, Apr 2004]
PHENOTYPE: Nursing mothers homozygous for a gene trap allele display underdeveloped mammary glands that are depleted in intracellular fat droplets and lack the ability to produce diacylglycerol- and triacylglycerol-rich milk; pups nursed by mutant mothers die neonatally unless transferred to foster mothers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 T C 8: 112,709,128 (GRCm39) K232E probably benign Het
Apba1 T C 19: 23,871,326 (GRCm39) M386T probably damaging Het
Appl2 G T 10: 83,444,601 (GRCm39) F472L possibly damaging Het
Atxn2 T C 5: 121,941,140 (GRCm39) Y56H probably damaging Het
Cacna1c T C 6: 118,647,368 (GRCm39) Y809C probably damaging Het
Canx C T 11: 50,201,694 (GRCm39) V59I probably benign Het
Catsperb T C 12: 101,560,478 (GRCm39) L823P probably damaging Het
Crb3 T C 17: 57,372,090 (GRCm39) S46P probably benign Het
Daam1 G A 12: 72,036,601 (GRCm39) R1058H probably damaging Het
Ehd1 T A 19: 6,348,502 (GRCm39) D493E probably damaging Het
Eml6 T A 11: 29,768,907 (GRCm39) Q746L probably damaging Het
Epg5 T A 18: 77,992,287 (GRCm39) M328K probably benign Het
Flt4 T A 11: 49,515,555 (GRCm39) S48T probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm7535 A G 17: 18,131,936 (GRCm39) probably benign Het
Hmcn2 A T 2: 31,240,586 (GRCm39) T494S probably benign Het
Hydin G A 8: 111,145,138 (GRCm39) V830I probably benign Het
Map3k6 T A 4: 132,973,983 (GRCm39) H487Q possibly damaging Het
Myh14 G A 7: 44,283,800 (GRCm39) P735S probably damaging Het
Nfkb2 T C 19: 46,296,163 (GRCm39) probably null Het
Nlrp4c T C 7: 6,076,113 (GRCm39) V671A probably benign Het
Nsrp1 A T 11: 76,936,587 (GRCm39) Y536* probably null Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Pak5 A G 2: 135,958,123 (GRCm39) S322P probably damaging Het
Pank2 A G 2: 131,124,601 (GRCm39) probably null Het
Phf6 A T X: 52,031,525 (GRCm39) I272F probably damaging Het
Plxna2 T C 1: 194,480,056 (GRCm39) L1409P probably damaging Het
Polr2a A G 11: 69,633,511 (GRCm39) probably null Het
Pp2d1 C A 17: 53,822,482 (GRCm39) V195L probably benign Het
Psma1 C T 7: 113,864,173 (GRCm39) E227K unknown Het
Ptger1 C T 8: 84,395,357 (GRCm39) T278I probably benign Het
Slc20a2 C A 8: 23,050,532 (GRCm39) S250R probably benign Het
Slc27a2 A G 2: 126,409,672 (GRCm39) T285A probably damaging Het
Slc47a2 T C 11: 61,204,497 (GRCm39) T285A probably benign Het
Slf1 T A 13: 77,194,825 (GRCm39) probably null Het
Tiam2 A G 17: 3,465,389 (GRCm39) T373A probably benign Het
Timd2 T A 11: 46,577,844 (GRCm39) I96L probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmem64 T C 4: 15,266,658 (GRCm39) I236T possibly damaging Het
Trpm2 T A 10: 77,777,016 (GRCm39) D427V probably damaging Het
Vax2 A T 6: 83,714,871 (GRCm39) Y262F probably damaging Het
Virma T C 4: 11,544,924 (GRCm39) S1628P probably damaging Het
Zan C A 5: 137,408,568 (GRCm39) probably benign Het
Zbtb22 T G 17: 34,136,939 (GRCm39) D361E probably damaging Het
Zfp27 A G 7: 29,595,536 (GRCm39) L143P possibly damaging Het
Other mutations in Gpat4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Gpat4 APN 8 23,672,791 (GRCm39) missense probably damaging 0.97
IGL01660:Gpat4 APN 8 23,665,354 (GRCm39) critical splice donor site probably null
IGL01688:Gpat4 APN 8 23,671,861 (GRCm39) missense probably benign 0.03
IGL02749:Gpat4 APN 8 23,670,886 (GRCm39) missense probably damaging 1.00
R0076:Gpat4 UTSW 8 23,680,721 (GRCm39) splice site probably benign
R0362:Gpat4 UTSW 8 23,670,949 (GRCm39) missense probably benign 0.05
R0961:Gpat4 UTSW 8 23,670,927 (GRCm39) missense probably damaging 0.96
R1876:Gpat4 UTSW 8 23,669,486 (GRCm39) missense possibly damaging 0.82
R1959:Gpat4 UTSW 8 23,672,952 (GRCm39) missense possibly damaging 0.81
R2313:Gpat4 UTSW 8 23,670,171 (GRCm39) missense probably damaging 0.97
R2315:Gpat4 UTSW 8 23,670,171 (GRCm39) missense probably damaging 0.97
R2969:Gpat4 UTSW 8 23,670,171 (GRCm39) missense probably damaging 0.97
R3110:Gpat4 UTSW 8 23,670,171 (GRCm39) missense probably damaging 0.97
R3112:Gpat4 UTSW 8 23,670,171 (GRCm39) missense probably damaging 0.97
R3774:Gpat4 UTSW 8 23,670,171 (GRCm39) missense probably damaging 0.97
R3775:Gpat4 UTSW 8 23,670,171 (GRCm39) missense probably damaging 0.97
R3826:Gpat4 UTSW 8 23,670,171 (GRCm39) missense probably damaging 0.97
R3828:Gpat4 UTSW 8 23,670,171 (GRCm39) missense probably damaging 0.97
R3829:Gpat4 UTSW 8 23,670,171 (GRCm39) missense probably damaging 0.97
R3830:Gpat4 UTSW 8 23,670,171 (GRCm39) missense probably damaging 0.97
R3943:Gpat4 UTSW 8 23,670,171 (GRCm39) missense probably damaging 0.97
R3944:Gpat4 UTSW 8 23,670,171 (GRCm39) missense probably damaging 0.97
R4384:Gpat4 UTSW 8 23,664,602 (GRCm39) missense probably benign 0.05
R4685:Gpat4 UTSW 8 23,672,865 (GRCm39) utr 5 prime probably benign
R5120:Gpat4 UTSW 8 23,670,218 (GRCm39) missense possibly damaging 0.77
R5199:Gpat4 UTSW 8 23,672,712 (GRCm39) missense possibly damaging 0.46
R5491:Gpat4 UTSW 8 23,670,680 (GRCm39) missense probably benign 0.38
R8393:Gpat4 UTSW 8 23,669,498 (GRCm39) unclassified probably benign
R8395:Gpat4 UTSW 8 23,669,498 (GRCm39) unclassified probably benign
R8396:Gpat4 UTSW 8 23,669,498 (GRCm39) unclassified probably benign
X0062:Gpat4 UTSW 8 23,680,727 (GRCm39) splice site probably null
X0064:Gpat4 UTSW 8 23,665,410 (GRCm39) missense probably damaging 1.00
Z1176:Gpat4 UTSW 8 23,669,814 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGATGGACCATTTGCCCCAC -3'
(R):5'- TCACAACCAGGGGTCTAAAGAG -3'

Sequencing Primer
(F):5'- CACAGTTCCAAATTTGTTTATTGGG -3'
(R):5'- GTGGAACAGAGACTGGGGTATTTG -3'
Posted On 2014-10-15