Incidental Mutation 'R3039:Gpat3'
ID 264894
Institutional Source Beutler Lab
Gene Symbol Gpat3
Ensembl Gene ENSMUSG00000029314
Gene Name glycerol-3-phosphate acyltransferase 3
Synonyms 4933407I02Rik, Agpat9, A230097K15Rik
MMRRC Submission 040555-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R3039 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 100994095-101046968 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101045671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 432 (S432P)
Ref Sequence ENSEMBL: ENSMUSP00000108508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031255] [ENSMUST00000092990] [ENSMUST00000112887]
AlphaFold Q8C0N2
Predicted Effect possibly damaging
Transcript: ENSMUST00000031255
AA Change: S432P

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000031255
Gene: ENSMUSG00000029314
AA Change: S432P

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Blast:PlsC 99 160 7e-6 BLAST
low complexity region 166 177 N/A INTRINSIC
PlsC 223 334 5.96e-22 SMART
Blast:PlsC 348 396 2e-22 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000092990
AA Change: S432P

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000090667
Gene: ENSMUSG00000029314
AA Change: S432P

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Blast:PlsC 99 160 7e-6 BLAST
low complexity region 166 177 N/A INTRINSIC
PlsC 223 334 5.96e-22 SMART
Blast:PlsC 348 396 2e-22 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000112887
AA Change: S432P

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108508
Gene: ENSMUSG00000029314
AA Change: S432P

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Blast:PlsC 99 160 7e-6 BLAST
low complexity region 166 177 N/A INTRINSIC
PlsC 223 334 5.96e-22 SMART
Blast:PlsC 348 396 2e-22 BLAST
Coding Region Coverage
  • 1x: 99.2%
  • 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.] This gene encodes a member of the lysophosphatidic acid acyltransferase protein family. The encoded protein is an enzyme which catalyzes the conversion of glycerol-3-phosphate to lysophosphatidic acid in the synthesis of triacylglycerol. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012]
PHENOTYPE: Under high-fat feeding, mice homozygous for a knock-out allele exhibit increased energy expenditure, improved glucose homeostasis, enlarged livers, increased total serum cholesterol levels, altered liver cholesterol metabolism, and female-specific protection from diet-induced obesity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700069L16Rik T A 5: 113,830,797 (GRCm39) K64N unknown Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Cap2 A G 13: 46,793,317 (GRCm39) N228D probably benign Het
Cd300ld A G 11: 114,877,003 (GRCm39) S143P probably benign Het
Cmya5 A G 13: 93,228,758 (GRCm39) V2110A probably benign Het
Dusp29 A G 14: 21,752,975 (GRCm39) V57A probably damaging Het
Lgi4 C T 7: 30,759,492 (GRCm39) A16V probably benign Het
Nsmce1 T C 7: 125,070,328 (GRCm39) E161G probably damaging Het
Pdgfa A G 5: 138,972,114 (GRCm39) V95A probably benign Het
Pes1 T C 11: 3,925,547 (GRCm39) Y221H probably damaging Het
Phf19 T C 2: 34,795,534 (GRCm39) E179G probably benign Het
Rpap2 G A 5: 107,749,661 (GRCm39) V62I possibly damaging Het
Ush2a T C 1: 188,643,744 (GRCm39) S4369P probably damaging Het
Wdr1 A G 5: 38,687,428 (GRCm39) I201T possibly damaging Het
Zhx1 T C 15: 57,916,647 (GRCm39) D533G possibly damaging Het
Other mutations in Gpat3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00848:Gpat3 APN 5 101,041,010 (GRCm39) missense probably benign 0.01
R1429:Gpat3 UTSW 5 101,040,953 (GRCm39) missense probably damaging 0.99
R1539:Gpat3 UTSW 5 101,031,254 (GRCm39) missense probably benign 0.00
R1830:Gpat3 UTSW 5 101,041,046 (GRCm39) missense probably benign
R2030:Gpat3 UTSW 5 101,045,687 (GRCm39) missense probably benign
R2440:Gpat3 UTSW 5 101,005,039 (GRCm39) missense probably benign
R2444:Gpat3 UTSW 5 101,005,039 (GRCm39) missense probably benign
R3813:Gpat3 UTSW 5 101,039,505 (GRCm39) splice site probably benign
R3830:Gpat3 UTSW 5 101,032,252 (GRCm39) missense probably benign 0.02
R4636:Gpat3 UTSW 5 101,005,039 (GRCm39) missense probably benign
R4637:Gpat3 UTSW 5 101,005,039 (GRCm39) missense probably benign
R4679:Gpat3 UTSW 5 101,041,322 (GRCm39) missense probably damaging 1.00
R4792:Gpat3 UTSW 5 101,005,039 (GRCm39) missense probably benign
R5229:Gpat3 UTSW 5 101,031,290 (GRCm39) missense probably damaging 1.00
R5661:Gpat3 UTSW 5 101,033,808 (GRCm39) nonsense probably null
R6383:Gpat3 UTSW 5 101,041,010 (GRCm39) missense probably benign 0.01
R8064:Gpat3 UTSW 5 101,039,522 (GRCm39) missense probably benign 0.36
R8234:Gpat3 UTSW 5 101,005,076 (GRCm39) critical splice donor site probably null
R9047:Gpat3 UTSW 5 100,994,788 (GRCm39) missense probably benign 0.00
R9180:Gpat3 UTSW 5 101,032,230 (GRCm39) missense probably benign 0.00
X0023:Gpat3 UTSW 5 101,033,826 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- TTGTAGAGCAGAGGCCAGAC -3'
(R):5'- CAGCTTCTGGCATGAGGATAGAG -3'

Sequencing Primer
(F):5'- TCTCTGTACCATGAGGCATATG -3'
(R):5'- TCTGGCATGAGGATAGAGACAAAATC -3'
Posted On 2015-02-05