Incidental Mutation 'R6666:Gpat2'
ID 526961
Institutional Source Beutler Lab
Gene Symbol Gpat2
Ensembl Gene ENSMUSG00000046338
Gene Name glycerol-3-phosphate acyltransferase 2, mitochondrial
Synonyms A530057A03Rik, Gpat2
MMRRC Submission 044786-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6666 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 127267119-127278012 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 127273838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 294 (G294R)
Ref Sequence ENSEMBL: ENSMUSP00000049619 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028848] [ENSMUST00000062211]
AlphaFold Q14DK4
Predicted Effect probably benign
Transcript: ENSMUST00000028848
SMART Domains Protein: ENSMUSP00000028848
Gene: ENSMUSG00000027371

DomainStartEndE-ValueType
low complexity region 47 53 N/A INTRINSIC
Pfam:FAA_hydrolase 107 313 3.1e-75 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000062211
AA Change: G294R

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000049619
Gene: ENSMUSG00000046338
AA Change: G294R

DomainStartEndE-ValueType
PlsC 199 333 1.45e-11 SMART
Blast:PlsC 347 387 7e-13 BLAST
low complexity region 431 468 N/A INTRINSIC
low complexity region 515 528 N/A INTRINSIC
low complexity region 593 613 N/A INTRINSIC
low complexity region 664 675 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123327
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137366
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146757
Meta Mutation Damage Score 0.3984 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (46/46)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik C A 10: 21,469,228 (GRCm39) probably null Het
Arhgap24 A G 5: 102,700,163 (GRCm39) probably null Het
Atp12a G T 14: 56,610,821 (GRCm39) V322L probably benign Het
Capza1 A C 3: 104,735,922 (GRCm39) probably null Het
Cela3a A T 4: 137,131,175 (GRCm39) S188T probably benign Het
Cplx1 G T 5: 108,668,031 (GRCm39) Y123* probably null Het
Ddias A T 7: 92,507,289 (GRCm39) D875E probably benign Het
Dnah3 T C 7: 119,670,172 (GRCm39) E715G probably benign Het
Fam83e A G 7: 45,376,426 (GRCm39) T380A probably benign Het
Fancd2 T C 6: 113,562,470 (GRCm39) V1270A probably damaging Het
Foxh1 A G 15: 76,552,613 (GRCm39) F367S probably damaging Het
Gprc5a A G 6: 135,056,473 (GRCm39) I307V probably benign Het
Gtpbp3 A G 8: 71,943,582 (GRCm39) D212G possibly damaging Het
Helb A G 10: 119,920,856 (GRCm39) V1029A probably damaging Het
Il22ra1 A T 4: 135,477,772 (GRCm39) H281L probably damaging Het
Il2rb TAGTCA TAGTCAGTCA 15: 78,366,034 (GRCm39) probably null Het
Itga3 T C 11: 94,956,652 (GRCm39) T170A probably benign Het
Kdm3a T C 6: 71,588,974 (GRCm39) E345G probably benign Het
Kif11 T C 19: 37,398,214 (GRCm39) I680T probably benign Het
Klhl28 C T 12: 64,990,301 (GRCm39) D547N probably benign Het
Limk2 T A 11: 3,310,493 (GRCm39) E49D probably damaging Het
Lmbrd2 T A 15: 9,151,656 (GRCm39) F120I probably benign Het
Mefv T A 16: 3,525,862 (GRCm39) N802Y possibly damaging Het
Ms4a2 C T 19: 11,595,787 (GRCm39) S168N probably benign Het
Myct1 T C 10: 5,554,333 (GRCm39) S67P probably damaging Het
Myh4 A G 11: 67,142,638 (GRCm39) E933G probably damaging Het
Naif1 C A 2: 32,344,863 (GRCm39) T189K probably damaging Het
Nppb A G 4: 148,070,463 (GRCm39) I11V probably benign Het
Nr3c1 T C 18: 39,620,200 (GRCm39) D29G probably damaging Het
Nrcam A G 12: 44,618,338 (GRCm39) Y782C probably damaging Het
Or1af1 A T 2: 37,110,331 (GRCm39) I277F probably damaging Het
Or51e1 T C 7: 102,359,135 (GRCm39) probably null Het
Or9m1 T A 2: 87,733,852 (GRCm39) H56L probably damaging Het
Parp1 A G 1: 180,413,516 (GRCm39) T375A probably benign Het
Pcdhgb1 G T 18: 37,814,546 (GRCm39) E346* probably null Het
Pds5b G T 5: 150,701,631 (GRCm39) S754I probably damaging Het
Scnn1g G A 7: 121,366,611 (GRCm39) D603N probably benign Het
Slitrk5 A G 14: 111,917,534 (GRCm39) D386G probably damaging Het
Trmt1 T C 8: 85,425,083 (GRCm39) L493P probably damaging Het
Vrk1 A G 12: 106,024,910 (GRCm39) E262G probably damaging Het
Wfs1 T C 5: 37,124,963 (GRCm39) T567A possibly damaging Het
Zbtb11 A T 16: 55,826,615 (GRCm39) K846I probably damaging Het
Zfp318 A G 17: 46,720,140 (GRCm39) T1113A probably benign Het
Zfp654 A T 16: 64,606,596 (GRCm39) S535R probably benign Het
Other mutations in Gpat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Gpat2 APN 2 127,274,316 (GRCm39) missense probably benign 0.01
IGL00479:Gpat2 APN 2 127,276,381 (GRCm39) missense probably damaging 0.99
IGL01393:Gpat2 APN 2 127,274,571 (GRCm39) missense probably damaging 1.00
IGL01759:Gpat2 APN 2 127,272,816 (GRCm39) missense possibly damaging 0.94
IGL01764:Gpat2 APN 2 127,269,456 (GRCm39) missense probably benign 0.18
IGL02631:Gpat2 APN 2 127,276,152 (GRCm39) splice site probably benign
IGL02657:Gpat2 APN 2 127,269,251 (GRCm39) missense probably benign 0.04
IGL02813:Gpat2 APN 2 127,276,375 (GRCm39) missense possibly damaging 0.90
IGL02873:Gpat2 APN 2 127,273,675 (GRCm39) missense probably benign 0.00
IGL02993:Gpat2 APN 2 127,269,486 (GRCm39) missense probably damaging 1.00
Hygroscopic UTSW 2 127,273,838 (GRCm39) missense possibly damaging 0.90
PIT4494001:Gpat2 UTSW 2 127,275,800 (GRCm39) missense probably benign 0.00
R0078:Gpat2 UTSW 2 127,270,169 (GRCm39) missense probably damaging 1.00
R0230:Gpat2 UTSW 2 127,277,765 (GRCm39) missense possibly damaging 0.95
R1619:Gpat2 UTSW 2 127,270,637 (GRCm39) missense probably benign 0.00
R1851:Gpat2 UTSW 2 127,276,739 (GRCm39) missense possibly damaging 0.77
R1939:Gpat2 UTSW 2 127,277,879 (GRCm39) makesense probably null
R2143:Gpat2 UTSW 2 127,275,682 (GRCm39) missense probably damaging 1.00
R2165:Gpat2 UTSW 2 127,270,211 (GRCm39) missense probably damaging 0.97
R2518:Gpat2 UTSW 2 127,270,211 (GRCm39) missense probably damaging 0.97
R3410:Gpat2 UTSW 2 127,270,211 (GRCm39) missense probably damaging 0.97
R3411:Gpat2 UTSW 2 127,270,211 (GRCm39) missense probably damaging 0.97
R3898:Gpat2 UTSW 2 127,277,018 (GRCm39) missense probably damaging 1.00
R4080:Gpat2 UTSW 2 127,275,542 (GRCm39) missense probably damaging 0.99
R4725:Gpat2 UTSW 2 127,273,902 (GRCm39) missense possibly damaging 0.83
R4841:Gpat2 UTSW 2 127,275,887 (GRCm39) missense probably benign 0.10
R5354:Gpat2 UTSW 2 127,270,643 (GRCm39) missense probably damaging 1.00
R5941:Gpat2 UTSW 2 127,270,195 (GRCm39) missense possibly damaging 0.53
R6362:Gpat2 UTSW 2 127,273,838 (GRCm39) missense possibly damaging 0.90
R6374:Gpat2 UTSW 2 127,273,838 (GRCm39) missense possibly damaging 0.90
R6375:Gpat2 UTSW 2 127,273,838 (GRCm39) missense possibly damaging 0.90
R6377:Gpat2 UTSW 2 127,273,838 (GRCm39) missense possibly damaging 0.90
R6380:Gpat2 UTSW 2 127,273,838 (GRCm39) missense possibly damaging 0.90
R6381:Gpat2 UTSW 2 127,273,838 (GRCm39) missense possibly damaging 0.90
R6382:Gpat2 UTSW 2 127,273,838 (GRCm39) missense possibly damaging 0.90
R6383:Gpat2 UTSW 2 127,273,838 (GRCm39) missense possibly damaging 0.90
R6384:Gpat2 UTSW 2 127,273,838 (GRCm39) missense possibly damaging 0.90
R6393:Gpat2 UTSW 2 127,273,838 (GRCm39) missense possibly damaging 0.90
R6565:Gpat2 UTSW 2 127,273,838 (GRCm39) missense possibly damaging 0.90
R6594:Gpat2 UTSW 2 127,273,838 (GRCm39) missense possibly damaging 0.90
R6595:Gpat2 UTSW 2 127,273,838 (GRCm39) missense possibly damaging 0.90
R6649:Gpat2 UTSW 2 127,274,355 (GRCm39) missense possibly damaging 0.81
R6665:Gpat2 UTSW 2 127,273,838 (GRCm39) missense possibly damaging 0.90
R6667:Gpat2 UTSW 2 127,273,838 (GRCm39) missense possibly damaging 0.90
R6668:Gpat2 UTSW 2 127,273,838 (GRCm39) missense possibly damaging 0.90
R6669:Gpat2 UTSW 2 127,273,838 (GRCm39) missense possibly damaging 0.90
R7031:Gpat2 UTSW 2 127,277,395 (GRCm39) missense probably damaging 0.99
R7096:Gpat2 UTSW 2 127,270,209 (GRCm39) missense probably benign 0.02
R7307:Gpat2 UTSW 2 127,276,810 (GRCm39) missense probably damaging 1.00
R7313:Gpat2 UTSW 2 127,270,215 (GRCm39) missense probably damaging 0.99
R7365:Gpat2 UTSW 2 127,268,901 (GRCm39) splice site probably null
R8111:Gpat2 UTSW 2 127,275,777 (GRCm39) missense probably damaging 1.00
R8113:Gpat2 UTSW 2 127,273,267 (GRCm39) missense possibly damaging 0.52
R8729:Gpat2 UTSW 2 127,275,739 (GRCm39) missense probably damaging 0.99
R9010:Gpat2 UTSW 2 127,277,146 (GRCm39) missense probably benign 0.28
R9146:Gpat2 UTSW 2 127,273,206 (GRCm39) missense possibly damaging 0.58
Z1176:Gpat2 UTSW 2 127,275,728 (GRCm39) missense probably damaging 1.00
Z1176:Gpat2 UTSW 2 127,272,802 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACAACTCAGAGGGCATCCTTG -3'
(R):5'- ACATTGTGCCACCCAGAACTG -3'

Sequencing Primer
(F):5'- CATCCTTGCAAGGGCTGTG -3'
(R):5'- GGTTGATAATCTACTCGGATCCCAG -3'
Posted On 2018-07-23