Incidental Mutation 'R9180:Gpat3'
ID 696950
Institutional Source Beutler Lab
Gene Symbol Gpat3
Ensembl Gene ENSMUSG00000029314
Gene Name glycerol-3-phosphate acyltransferase 3
Synonyms 4933407I02Rik, Agpat9, A230097K15Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R9180 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 100994095-101046968 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101032230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 176 (T176S)
Ref Sequence ENSEMBL: ENSMUSP00000031255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031255] [ENSMUST00000092990] [ENSMUST00000112887]
AlphaFold Q8C0N2
Predicted Effect probably benign
Transcript: ENSMUST00000031255
AA Change: T176S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000031255
Gene: ENSMUSG00000029314
AA Change: T176S

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 probably benign
Transcript: ENSMUST00000092990
AA Change: T176S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000090667
Gene: ENSMUSG00000029314
AA Change: T176S

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 probably benign
Transcript: ENSMUST00000112887
AA Change: T176S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000108508
Gene: ENSMUSG00000029314
AA Change: T176S

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik G A 3: 137,889,470 (GRCm39) P49L probably benign Het
Adam34l T A 8: 44,079,970 (GRCm39) R85* probably null Het
Anapc2 C T 2: 25,163,303 (GRCm39) T180I probably benign Het
Ankib1 A T 5: 3,756,276 (GRCm39) H556Q probably damaging Het
Aox1 A T 1: 58,378,777 (GRCm39) K1009* probably null Het
Apob C T 12: 8,047,925 (GRCm39) P968L probably damaging Het
Bpi T A 2: 158,116,608 (GRCm39) F335Y probably benign Het
Cabcoco1 T C 10: 68,272,719 (GRCm39) Y222C probably damaging Het
Camk2b G T 11: 5,939,332 (GRCm39) C273* probably null Het
Catsperd G A 17: 56,968,252 (GRCm39) D546N probably benign Het
Cenpb C T 2: 131,021,463 (GRCm39) G112S probably damaging Het
Col6a5 A G 9: 105,739,178 (GRCm39) L2585P probably damaging Het
Cop1 A G 1: 159,147,339 (GRCm39) E555G probably damaging Het
Coro1b T C 19: 4,203,392 (GRCm39) V411A probably benign Het
Cyfip2 G A 11: 46,176,920 (GRCm39) R87C probably damaging Het
Dthd1 A C 5: 63,045,410 (GRCm39) I725L probably benign Het
Dydc1 A C 14: 40,800,054 (GRCm39) E20A probably damaging Het
Ermp1 T C 19: 29,609,845 (GRCm39) I317V probably benign Het
Fat4 A G 3: 38,942,556 (GRCm39) N483S possibly damaging Het
Fbxo33 A G 12: 59,251,095 (GRCm39) probably null Het
Fcgbp G T 7: 27,803,198 (GRCm39) E1601* probably null Het
Fer1l5 A T 1: 36,449,999 (GRCm39) S1118C probably null Het
Fer1l6 T C 15: 58,494,230 (GRCm39) V1141A probably benign Het
Flnb C T 14: 7,818,219 (GRCm38) T23M probably damaging Het
Fsip2 T C 2: 82,815,574 (GRCm39) L3769P possibly damaging Het
Gna11 T C 10: 81,370,942 (GRCm39) K98R Het
Gprc5b A G 7: 118,583,542 (GRCm39) L109P probably damaging Het
Hadha A T 5: 30,340,038 (GRCm39) N246K probably benign Het
Haus3 G A 5: 34,324,835 (GRCm39) Q275* probably null Het
Higd1b A G 11: 102,728,090 (GRCm39) Y44C possibly damaging Het
Igkv1-131 T C 6: 67,743,218 (GRCm39) K55R probably benign Het
Igtp G T 11: 58,098,091 (GRCm39) E421* probably null Het
Kcnk3 G T 5: 30,745,532 (GRCm39) probably benign Het
Krtap4-13 A T 11: 99,700,165 (GRCm39) C165S unknown Het
Lrfn4 T C 19: 4,663,353 (GRCm39) R394G probably benign Het
Lrrc7 A C 3: 157,867,011 (GRCm39) L910R possibly damaging Het
Mbtd1 A G 11: 93,823,218 (GRCm39) D568G probably damaging Het
Mettl16 T A 11: 74,693,826 (GRCm39) I279N probably benign Het
Mmrn2 A G 14: 34,121,158 (GRCm39) H676R probably benign Het
Mrgprg T C 7: 143,318,350 (GRCm39) K254R probably benign Het
Muc16 A C 9: 18,554,038 (GRCm39) V4085G unknown Het
Mvp T C 7: 126,591,822 (GRCm39) Q456R probably benign Het
Myf6 T C 10: 107,329,318 (GRCm39) D209G probably benign Het
Ociad1 A G 5: 73,467,725 (GRCm39) D167G probably benign Het
Or11l3 A G 11: 58,516,062 (GRCm39) L270P probably benign Het
Or1l4 A G 2: 37,091,292 (GRCm39) D13G probably benign Het
Or51f23b T A 7: 102,402,734 (GRCm39) Y134F probably damaging Het
Or5m3 T G 2: 85,838,325 (GRCm39) D68E probably damaging Het
Or6c1b T C 10: 129,272,858 (GRCm39) F59S probably damaging Het
Phf20 A G 2: 156,114,537 (GRCm39) D295G probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Ppp1r13b A T 12: 111,811,416 (GRCm39) H157Q probably benign Het
Prss3b A G 6: 41,008,681 (GRCm39) L211P probably damaging Het
Rbm26 C T 14: 105,391,039 (GRCm39) R149H unknown Het
Reg3d C T 6: 78,355,443 (GRCm39) C16Y possibly damaging Het
Rrp36 A G 17: 46,978,980 (GRCm39) F193L possibly damaging Het
Rtca A T 3: 116,282,905 (GRCm39) M361K probably benign Het
Ryr3 T G 2: 112,491,981 (GRCm39) D3790A probably damaging Het
Serpina3n C A 12: 104,377,440 (GRCm39) A231E probably benign Het
Sh2d2a A G 3: 87,759,070 (GRCm39) D224G possibly damaging Het
Sh3bp2 A T 5: 34,718,377 (GRCm39) K526* probably null Het
Slc12a2 A G 18: 58,069,469 (GRCm39) T1017A possibly damaging Het
Slc12a8 T C 16: 33,361,397 (GRCm39) L93P probably damaging Het
Slc5a6 A G 5: 31,195,190 (GRCm39) I469T probably damaging Het
Smarcc1 T A 9: 109,964,728 (GRCm39) V95D probably damaging Het
Snap29 T A 16: 17,224,163 (GRCm39) S59R probably damaging Het
Tmem121b T A 6: 120,469,784 (GRCm39) Y311F probably damaging Het
Tpcn1 C A 5: 120,694,000 (GRCm39) V199L probably benign Het
Ttn T C 2: 76,618,721 (GRCm39) I16188V probably benign Het
Usp24 T C 4: 106,216,247 (GRCm39) I366T possibly damaging Het
Utrn T A 10: 12,545,463 (GRCm39) E1727D probably damaging Het
Vav2 T C 2: 27,182,701 (GRCm39) D301G probably damaging Het
Vmn2r104 T C 17: 20,263,087 (GRCm39) T125A probably benign Het
Vmn2r73 T G 7: 85,507,123 (GRCm39) I730L probably benign Het
Zfp352 A T 4: 90,113,118 (GRCm39) K419N probably benign Het
Zfp84 C A 7: 29,474,873 (GRCm39) S48R probably damaging Het
Zfp947 A T 17: 22,364,386 (GRCm39) H429Q probably 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
R3039:Gpat3 UTSW 5 101,045,671 (GRCm39) missense possibly damaging 0.75
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
X0023:Gpat3 UTSW 5 101,033,826 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- GTCAGCCCTGGCAAATTCAC -3'
(R):5'- GCATAAACACTTCTAGTCTGAACC -3'

Sequencing Primer
(F):5'- GCAAATTCACCAACCCTTCTCATTG -3'
(R):5'- CACTTCTAGTCTGAACCAAAGTATG -3'
Posted On 2022-02-07