Incidental Mutation 'R4725:Gpat2'
ID 358384
Institutional Source Beutler Lab
Gene Symbol Gpat2
Ensembl Gene ENSMUSG00000046338
Gene Name glycerol-3-phosphate acyltransferase 2, mitochondrial
Synonyms A530057A03Rik, Gpat2
MMRRC Submission 041960-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4725 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 127267119-127278012 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127273902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 315 (V315A)
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: V315A

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000049619
Gene: ENSMUSG00000046338
AA Change: V315A

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 0.6930 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 96% (64/67)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830454E08Rik T C 9: 120,406,769 (GRCm39) probably benign Het
Adamts20 T C 15: 94,249,643 (GRCm39) E458G probably damaging Het
Adgrl3 T C 5: 81,914,052 (GRCm39) I1220T possibly damaging Het
Aldh1a1 T A 19: 20,617,445 (GRCm39) M459K probably benign Het
Bmal1 C A 7: 112,903,566 (GRCm39) P454Q possibly damaging Het
Camta1 A G 4: 151,232,953 (GRCm39) V240A probably benign Het
Ccdc88b C T 19: 6,834,481 (GRCm39) G149R probably damaging Het
Ceacam5 T C 7: 17,494,602 (GRCm39) V870A probably benign Het
Cep192 A C 18: 67,949,837 (GRCm39) Q307P probably benign Het
Cep63 T C 9: 102,467,755 (GRCm39) probably benign Het
Cldn12 A G 5: 5,558,385 (GRCm39) F14S probably damaging Het
Ctdsp1 G A 1: 74,433,823 (GRCm39) V135I possibly damaging Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Dchs1 T C 7: 105,404,460 (GRCm39) D2694G probably damaging Het
Dchs1 C G 7: 105,414,759 (GRCm39) G761A probably damaging Het
Dennd5b A G 6: 148,946,277 (GRCm39) Y445H probably damaging Het
Dock1 T A 7: 134,346,743 (GRCm39) L225* probably null Het
Drd3 G T 16: 43,643,164 (GRCm39) E467* probably null Het
Dysf A T 6: 84,074,738 (GRCm39) N527I probably damaging Het
Erbb2 A G 11: 98,315,970 (GRCm39) T358A possibly damaging Het
Fhad1 A T 4: 141,655,689 (GRCm39) probably null Het
Ganc T C 2: 120,265,754 (GRCm39) I434T probably damaging Het
Gm5830 T A 1: 78,945,549 (GRCm39) noncoding transcript Het
Gm6096 G T 7: 33,950,484 (GRCm39) E8* probably null Het
Gne A G 4: 44,066,806 (GRCm39) F63S probably benign Het
Gpr33 A G 12: 52,070,892 (GRCm39) L49P probably damaging Het
Heatr1 C T 13: 12,439,543 (GRCm39) Q1374* probably null Het
Hivep1 A G 13: 42,316,887 (GRCm39) I2032V probably benign Het
Igkv2-112 A C 6: 68,197,450 (GRCm39) I40L probably benign Het
Kcnab3 A G 11: 69,221,294 (GRCm39) N204D probably benign Het
Kcnj10 T A 1: 172,196,726 (GRCm39) F80Y probably damaging Het
Lcmt2 C G 2: 120,969,911 (GRCm39) V171L probably benign Het
Loxhd1 T A 18: 77,483,153 (GRCm39) Y1245N probably damaging Het
Lrrc7 GAAGTTGTTTGGAGATTCTTATCTTA GA 3: 158,024,045 (GRCm39) probably benign Het
Mast1 A G 8: 85,655,635 (GRCm39) S170P possibly damaging Het
Mroh4 A G 15: 74,487,956 (GRCm39) L322P probably damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Nudcd3 A T 11: 6,143,475 (GRCm39) V1D probably damaging Het
Pah T A 10: 87,390,238 (GRCm39) L25Q probably damaging Het
Pik3cg A T 12: 32,243,596 (GRCm39) probably null Het
Pira13 A C 7: 3,824,547 (GRCm39) S611A probably benign Het
Plekha6 C A 1: 133,211,058 (GRCm39) S625Y probably damaging Het
Rtn4 T A 11: 29,658,362 (GRCm39) S839T probably damaging Het
Rusc1 A G 3: 88,998,736 (GRCm39) S349P possibly damaging Het
Samsn1 A T 16: 75,742,217 (GRCm39) noncoding transcript Het
Scimp A G 11: 70,691,539 (GRCm39) V30A probably damaging Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Sgip1 A G 4: 102,823,419 (GRCm39) D680G probably damaging Het
Slc44a2 G A 9: 21,259,691 (GRCm39) V613M probably damaging Het
Smpdl3b T C 4: 132,472,489 (GRCm39) T95A probably damaging Het
Spag6l A T 16: 16,610,395 (GRCm39) L85H probably damaging Het
Sucla2 T A 14: 73,806,429 (GRCm39) Y167N possibly damaging Het
Svop G T 5: 114,203,546 (GRCm39) probably benign Het
Tnxb A T 17: 34,918,041 (GRCm39) D2318V probably damaging Het
Trbv14 A G 6: 41,112,332 (GRCm39) D43G probably benign Het
Ubn2 A G 6: 38,499,240 (GRCm39) probably benign Het
Ufsp1 T C 5: 137,293,569 (GRCm39) I173T probably damaging Het
Zbtb40 A G 4: 136,746,072 (GRCm39) 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
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
R6666: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'- TGCAGTGAGTGTTCCCAGTG -3'
(R):5'- ATCCCAATCTGACTTCAGCC -3'

Sequencing Primer
(F):5'- CCAAGGGTGTAGGGTCTGC -3'
(R):5'- ATCTGACTTCAGCCCTAAAGG -3'
Posted On 2015-11-11