Incidental Mutation 'R2969:Gpat4'
ID 256061
Institutional Source Beutler Lab
Gene Symbol Gpat4
Ensembl Gene ENSMUSG00000031545
Gene Name glycerol-3-phosphate acyltransferase 4
Synonyms Agpat6
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.420) question?
Stock # R2969 (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: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 A G 10: 69,830,225 (GRCm39) T137A probably damaging Het
Antxr2 A T 5: 98,178,275 (GRCm39) L45* probably null Het
Armc1 T C 3: 19,189,024 (GRCm39) S214G probably benign Het
Arsj T C 3: 126,233,021 (GRCm39) I589T probably benign Het
C8a A G 4: 104,710,974 (GRCm39) S230P probably damaging Het
Cnga3 A G 1: 37,300,159 (GRCm39) Y331C probably damaging Het
Gm21976 A G 13: 98,423,790 (GRCm39) Y33C unknown Het
Gtf2i A G 5: 134,280,746 (GRCm39) V556A probably damaging Het
Ighv8-12 C T 12: 115,611,570 (GRCm39) R118Q probably benign Het
Ing4 A G 6: 125,024,288 (GRCm39) K131E probably benign Het
Mrgprb5 T A 7: 47,818,317 (GRCm39) R139S probably damaging Het
Nap1l2 A T X: 102,229,254 (GRCm39) D221E probably benign Het
Nepn A T 10: 52,276,983 (GRCm39) R179* probably null Het
Nrxn3 G A 12: 89,321,241 (GRCm39) C383Y probably damaging Het
Pfpl G T 19: 12,406,907 (GRCm39) R386L probably benign Het
Rere A G 4: 150,654,673 (GRCm39) K402E unknown Het
Serpina3n C T 12: 104,375,333 (GRCm39) T135M probably benign Het
Slc43a1 C T 2: 84,687,679 (GRCm39) T395I probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Vipas39 T C 12: 87,289,345 (GRCm39) N373S probably benign Het
Vmn1r128 T A 7: 21,084,046 (GRCm39) V250D probably 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
R2217:Gpat4 UTSW 8 23,670,171 (GRCm39) missense probably damaging 0.97
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
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'- CTCACAACCAGGGGTCTAAAG -3'

Sequencing Primer
(F):5'- CACAGTTCCAAATTTGTTTATTGGG -3'
(R):5'- CACAACCAGGGGTCTAAAGAGTGG -3'
Posted On 2014-12-29