Incidental Mutation 'R6669:Gpat2'
ID 528048
Institutional Source Beutler Lab
Gene Symbol Gpat2
Ensembl Gene ENSMUSG00000046338
Gene Name glycerol-3-phosphate acyltransferase 2, mitochondrial
Synonyms A530057A03Rik, Gpat2
MMRRC Submission 044789-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6669 (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: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
Validation Efficiency 97% (33/34)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ascc3 A G 10: 50,716,469 (GRCm39) I1952V probably benign Het
Atg2b T C 12: 105,637,788 (GRCm39) E142G possibly damaging Het
Bbc3 G T 7: 16,047,641 (GRCm39) A122S possibly damaging Het
Cenpu T C 8: 47,029,319 (GRCm39) S191P probably damaging Het
Clic3 G T 2: 25,347,779 (GRCm39) R48L possibly damaging Het
Cmya5 T C 13: 93,229,767 (GRCm39) K1774E probably benign Het
Cnst T A 1: 179,432,638 (GRCm39) probably null Het
Cyfip1 T A 7: 55,549,809 (GRCm39) S657T probably damaging Het
Dock10 T C 1: 80,570,572 (GRCm39) Y322C probably damaging Het
Epn2 C T 11: 61,410,384 (GRCm39) V550I probably benign Het
Evc2 C T 5: 37,535,722 (GRCm39) P466S possibly damaging Het
Fancd2 C T 6: 113,570,288 (GRCm39) T1413I probably benign Het
Herc4 T A 10: 63,121,847 (GRCm39) W400R probably benign Het
Kcna7 T C 7: 45,058,988 (GRCm39) V425A probably damaging Het
Klhl3 A T 13: 58,158,966 (GRCm39) D564E probably benign Het
Man2b2 T C 5: 36,967,702 (GRCm39) I889V probably benign Het
Mcm3ap A G 10: 76,343,171 (GRCm39) I1688V probably damaging Het
Mocos T A 18: 24,799,467 (GRCm39) F234I probably damaging Het
Muc20 T C 16: 32,614,307 (GRCm39) T357A possibly damaging Het
Ncoa6 T G 2: 155,241,613 (GRCm39) probably null Het
Nlk C A 11: 78,477,892 (GRCm39) G284* probably null Het
Nrxn1 T A 17: 90,366,991 (GRCm39) T12S probably damaging Het
Nrxn2 A G 19: 6,531,221 (GRCm39) Y627C probably damaging Het
Ntn1 T C 11: 68,276,576 (GRCm39) N124S probably benign Het
Pdzd7 T A 19: 45,025,190 (GRCm39) Q435L possibly damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,132 (GRCm39) probably benign Het
Slc30a10 G A 1: 185,196,625 (GRCm39) R429Q probably benign Het
Tox4 T C 14: 52,524,213 (GRCm39) Y116H probably damaging Het
Trpv5 G A 6: 41,634,976 (GRCm39) A451V probably damaging Het
Ube3a T C 7: 58,926,605 (GRCm39) V482A probably benign Het
Vcan A T 13: 89,852,850 (GRCm39) D703E probably benign Het
Xirp2 C A 2: 67,343,699 (GRCm39) A1980E possibly damaging Het
Xrcc1 T C 7: 24,246,762 (GRCm39) V10A 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
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
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
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'- AACTCAGAGGGCATCCTTGC -3'
(R):5'- AACATTGTGCCACCCAGAACTG -3'

Sequencing Primer
(F):5'- CATCCTTGCAAGGGCTGTG -3'
(R):5'- GGTTGATAATCTACTCGGATCCCAG -3'
Posted On 2018-07-24