Incidental Mutation 'R3830:Gpat4'
ID 273949
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 # R3830 (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: 99.3%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.2%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agpat5 A G 8: 18,929,621 (GRCm39) E250G probably benign Het
Aox4 A T 1: 58,294,670 (GRCm39) T960S probably damaging Het
Bach2 T A 4: 32,563,150 (GRCm39) L539H probably damaging Het
Capn1 A T 19: 6,044,877 (GRCm39) L465Q probably damaging Het
Cd300c A G 11: 114,850,453 (GRCm39) F117L probably benign Het
Cep104 T G 4: 154,069,400 (GRCm39) M207R probably damaging Het
Chd2 A G 7: 73,141,163 (GRCm39) Y577H possibly damaging Het
Col4a1 C A 8: 11,259,650 (GRCm39) G1341V probably damaging Het
Cplane2 C T 4: 140,945,900 (GRCm39) R148C probably damaging Het
Cspg4 T G 9: 56,804,905 (GRCm39) D1905E probably damaging Het
Dhx37 T C 5: 125,508,677 (GRCm39) K86R probably benign Het
Drd2 T A 9: 49,313,443 (GRCm39) V204D probably damaging Het
Gclc A T 9: 77,699,242 (GRCm39) I520L probably benign Het
Gpat3 A G 5: 101,032,252 (GRCm39) D183G probably benign Het
Gprin3 T C 6: 59,330,618 (GRCm39) E563G probably benign Het
Grm8 A T 6: 27,761,228 (GRCm39) L332* probably null Het
Grpel1 T A 5: 36,626,827 (GRCm39) N36K probably benign Het
Hecw1 C T 13: 14,520,643 (GRCm39) S198N probably benign Het
Kcna2 T C 3: 107,012,112 (GRCm39) I231T probably benign Het
Lpcat1 T C 13: 73,637,212 (GRCm39) I114T possibly damaging Het
Mast4 G T 13: 102,875,319 (GRCm39) H1350N probably damaging Het
Ncor2 T C 5: 125,195,756 (GRCm39) probably benign Het
Ntn1 C G 11: 68,276,619 (GRCm39) D110H probably damaging Het
Or2b11 G T 11: 59,462,427 (GRCm39) N46K probably damaging Het
Pigb T C 9: 72,924,755 (GRCm39) N468S probably benign Het
Pik3r2 G A 8: 71,223,065 (GRCm39) R452C probably benign Het
Plekhg1 A G 10: 3,823,400 (GRCm39) T123A probably damaging Het
Ptges3l T C 11: 101,312,443 (GRCm39) *67W probably null Het
Rgs12 G A 5: 35,123,359 (GRCm39) V381M possibly damaging Het
Rrm2 G T 12: 24,758,598 (GRCm39) A47S probably benign Het
Six2 G T 17: 85,992,615 (GRCm39) S296Y probably damaging Het
Slc5a12 T A 2: 110,463,081 (GRCm39) C392* probably null Het
Snx5 A T 2: 144,096,821 (GRCm39) probably null Het
Svep1 A G 4: 58,096,177 (GRCm39) L1481P probably damaging Het
Tspan18 T C 2: 93,050,453 (GRCm39) I57V probably benign Het
Ube3b C A 5: 114,538,012 (GRCm39) Q368K probably damaging Het
Zfhx4 A T 3: 5,466,269 (GRCm39) K2142N probably damaging Het
Zfp729a A T 13: 67,767,997 (GRCm39) F744Y 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
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
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'- CAGTGATGGACCATTTGCCC -3'
(R):5'- TCACAACCAGGGGTCTAAAGAG -3'

Sequencing Primer
(F):5'- ATGGACCATTTGCCCCACCTG -3'
(R):5'- GTGGAACAGAGACTGGGGTATTTG -3'
Posted On 2015-04-02