Incidental Mutation 'R2518:Gpat2'
ID 254028
Institutional Source Beutler Lab
Gene Symbol Gpat2
Ensembl Gene ENSMUSG00000046338
Gene Name glycerol-3-phosphate acyltransferase 2, mitochondrial
Synonyms A530057A03Rik, Gpat2
MMRRC Submission 040422-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2518 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 127267119-127278012 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 127270211 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 75 (V75M)
Ref Sequence ENSEMBL: ENSMUSP00000049619 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062211]
AlphaFold Q14DK4
Predicted Effect probably damaging
Transcript: ENSMUST00000062211
AA Change: V75M

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000049619
Gene: ENSMUSG00000046338
AA Change: V75M

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
Meta Mutation Damage Score 0.5699 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 A G 8: 25,127,157 (GRCm39) C480R probably damaging Het
Aftph G T 11: 20,675,797 (GRCm39) T604K probably damaging Het
Bivm T C 1: 44,168,775 (GRCm39) V279A probably damaging Het
C2cd2 G A 16: 97,723,286 (GRCm39) T77I probably benign Het
Ccdc146 T C 5: 21,510,526 (GRCm39) H527R probably benign Het
Cd226 A G 18: 89,225,451 (GRCm39) N116S probably benign Het
Cit A G 5: 116,125,105 (GRCm39) K1612E probably damaging Het
Cmtr1 T A 17: 29,900,954 (GRCm39) Y663* probably null Het
Col3a1 T A 1: 45,376,672 (GRCm39) probably benign Het
Copa A G 1: 171,947,468 (GRCm39) N1095D probably benign Het
Cpne1 G T 2: 155,915,891 (GRCm39) A433E probably damaging Het
Cyfip1 C T 7: 55,578,032 (GRCm39) L1181F probably damaging Het
Dnajc6 T A 4: 101,470,127 (GRCm39) I220N probably damaging Het
Duxbl1 G C 14: 25,988,172 (GRCm39) probably benign Het
Fam135b C T 15: 71,335,760 (GRCm39) R478H probably benign Het
Fam91a1 T A 15: 58,322,449 (GRCm39) S734T possibly damaging Het
Fut10 T G 8: 31,726,495 (GRCm39) S417A probably benign Het
Gm9945 C T 11: 53,371,163 (GRCm39) probably benign Het
Golga4 A G 9: 118,385,680 (GRCm39) E934G probably damaging Het
Hdac5 A G 11: 102,087,962 (GRCm39) V949A probably damaging Het
Hdgfl1 G T 13: 26,953,732 (GRCm39) L114I probably benign Het
Ifi27l2b T A 12: 103,422,083 (GRCm39) M94L unknown Het
Irs2 C A 8: 11,055,352 (GRCm39) A1027S probably benign Het
Itga2 A T 13: 115,017,578 (GRCm39) C111S probably damaging Het
Khdrbs1 T C 4: 129,614,540 (GRCm39) T338A probably benign Het
Klk1 T C 7: 43,870,161 (GRCm39) probably null Het
Kmt2b T C 7: 30,275,493 (GRCm39) N1822S probably benign Het
Lrig3 T C 10: 125,830,310 (GRCm39) I136T probably benign Het
Lyar T A 5: 38,385,276 (GRCm39) D105E probably benign Het
Mat1a T A 14: 40,844,469 (GRCm39) D366E probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Naip1 A T 13: 100,559,727 (GRCm39) D1092E probably benign Het
Neb T A 2: 52,139,523 (GRCm39) K95* probably null Het
Nectin4 A G 1: 171,207,776 (GRCm39) D56G probably benign Het
Nup58 A T 14: 60,470,109 (GRCm39) F334Y probably damaging Het
Or14a256 A T 7: 86,265,395 (GRCm39) F153I probably benign Het
Or9i1 A G 19: 13,839,673 (GRCm39) N172S probably damaging Het
Pde8a C A 7: 80,967,170 (GRCm39) T437K probably benign Het
Ppp1r3a A T 6: 14,719,377 (GRCm39) N512K possibly damaging Het
Pramel12 A G 4: 143,144,473 (GRCm39) Q273R possibly damaging Het
Rad51ap2 A G 12: 11,507,068 (GRCm39) D330G probably damaging Het
Ren1 G A 1: 133,287,862 (GRCm39) A399T probably damaging Het
Rnft2 G T 5: 118,332,670 (GRCm39) probably benign Het
Septin14 A T 5: 129,776,099 (GRCm39) S27T probably benign Het
Shld1 T A 2: 132,592,447 (GRCm39) S165T probably damaging Het
Shox2 T C 3: 66,885,692 (GRCm39) K128E possibly damaging Het
Skint1 T C 4: 111,882,678 (GRCm39) W241R probably benign Het
Slc24a4 T A 12: 102,188,310 (GRCm39) H134Q probably benign Het
Slc25a36 A T 9: 96,961,124 (GRCm39) L165Q possibly damaging Het
Slc35f1 A G 10: 52,949,630 (GRCm39) I240V probably benign Het
Slc66a1 A G 4: 139,029,810 (GRCm39) F74L probably damaging Het
Tab2 G A 10: 7,783,245 (GRCm39) P679L probably damaging Het
Tarbp2 A G 15: 102,426,992 (GRCm39) E3G possibly damaging Het
Tas2r130 A T 6: 131,607,036 (GRCm39) I253K probably damaging Het
Timm44 A C 8: 4,316,588 (GRCm39) C319G probably null Het
Tjap1 A T 17: 46,571,021 (GRCm39) N165K probably damaging Het
Tmem63b A G 17: 45,977,080 (GRCm39) I429T probably benign Het
Trabd2b A T 4: 114,457,100 (GRCm39) D339V probably damaging Het
Tst T C 15: 78,290,033 (GRCm39) M1V probably null Het
Ube4a A T 9: 44,859,435 (GRCm39) N335K probably benign Het
Vps54 C T 11: 21,256,394 (GRCm39) T633M probably benign Het
Zfhx4 C T 3: 5,468,418 (GRCm39) P2859S probably benign Het
Zfp953 A G 13: 67,496,003 (GRCm39) Y13H probably damaging 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
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
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'- TGTGCTTAGCTCTAAGAGGGCAA -3'
(R):5'- GAAGGAACTGCAGGGGAGTAAAG -3'

Sequencing Primer
(F):5'- AACTCCACACAAGGGGACAG -3'
(R):5'- GCTTGCCTCCATTTGCTATG -3'
Posted On 2014-12-04