Incidental Mutation 'R8481:Got2'
ID 668161
Institutional Source Beutler Lab
Gene Symbol Got2
Ensembl Gene ENSMUSG00000031672
Gene Name glutamatic-oxaloacetic transaminase 2, mitochondrial
Synonyms plasma membrane fatty acid binding protein, mitochondrial aspartate aminotransferase, FABP-pm, Kyat4, mAspAT
MMRRC Submission 067925-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.616) question?
Stock # R8481 (G1)
Quality Score 78.0075
Status Validated
Chromosome 8
Chromosomal Location 96590761-96615029 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) T to A at 96615152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034097]
AlphaFold P05202
PDB Structure Crystal Structure of Mouse Mitochondrial Aspartate Aminotransferase/Kynurenine Aminotransferase IV [X-RAY DIFFRACTION]
Crystal structure of mouse mitochondrial aspartate aminotransferase, a newly identified kynurenine aminotransferase-IV [X-RAY DIFFRACTION]
Crystal structure of mouse mitochondrial aspartate aminotransferase in complex with oxaloacetic acid [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000034097
SMART Domains Protein: ENSMUSP00000034097
Gene: ENSMUSG00000031672

DomainStartEndE-ValueType
low complexity region 14 31 N/A INTRINSIC
Pfam:Aminotran_1_2 57 425 4.8e-97 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (45/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and inner-membrane mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T A 2: 155,398,381 (GRCm39) Y380* probably null Het
Apob T A 12: 8,044,807 (GRCm39) probably null Het
Aste1 G A 9: 105,274,189 (GRCm39) R143Q possibly damaging Het
BC024139 T C 15: 76,004,882 (GRCm39) D598G probably damaging Het
Bpifb9a T C 2: 154,111,399 (GRCm39) V551A probably benign Het
Ccdc88b A T 19: 6,831,900 (GRCm39) L427Q probably damaging Het
Cept1 A G 3: 106,412,569 (GRCm39) V301A probably benign Het
Chuk G T 19: 44,084,678 (GRCm39) H306Q probably benign Het
Cryzl1 C A 16: 91,504,161 (GRCm39) E69* probably null Het
Cul5 A T 9: 53,558,123 (GRCm39) D160E probably benign Het
Dlec1 G A 9: 118,972,335 (GRCm39) probably null Het
Dnah12 A G 14: 26,575,753 (GRCm39) M2954V probably benign Het
Dnah5 T A 15: 28,419,941 (GRCm39) D3746E probably benign Het
Dnm1 A G 2: 32,230,490 (GRCm39) V108A probably benign Het
Dpp9 C A 17: 56,501,467 (GRCm39) D582Y possibly damaging Het
Evi2 T A 11: 79,406,288 (GRCm39) probably benign Het
Gria2 A T 3: 80,708,998 (GRCm39) H61Q possibly damaging Het
Hnrnpa2b1 C T 6: 51,444,391 (GRCm39) V8I probably benign Het
Impg2 A G 16: 56,072,629 (GRCm39) I354V possibly damaging Het
Letm2 T C 8: 26,070,375 (GRCm39) K421R possibly damaging Het
Lrp1 T C 10: 127,404,779 (GRCm39) D1974G probably damaging Het
Magi2 A T 5: 20,594,152 (GRCm39) E5D possibly damaging Het
Mprip T A 11: 59,648,982 (GRCm39) Y895* probably null Het
Myo5c T C 9: 75,208,726 (GRCm39) F1679S probably damaging Het
Neb T C 2: 52,114,597 (GRCm39) K4221E probably damaging Het
Nek4 A G 14: 30,685,991 (GRCm39) Y308C probably damaging Het
Nrsn1 T C 13: 25,437,598 (GRCm39) N110S probably damaging Het
Or11a4 T A 17: 37,536,295 (GRCm39) I93K probably damaging Het
Or4k40 T A 2: 111,250,994 (GRCm39) I101F possibly damaging Het
Padi2 A G 4: 140,660,564 (GRCm39) Q348R probably benign Het
Pdgfrb C T 18: 61,198,814 (GRCm39) T324I probably benign Het
Pon3 C T 6: 5,221,715 (GRCm39) R305H probably benign Het
Prlhr A G 19: 60,456,125 (GRCm39) V147A possibly damaging Het
Ptpn21 T C 12: 98,655,153 (GRCm39) T605A probably benign Het
Rabep1 T C 11: 70,777,953 (GRCm39) S162P probably damaging Het
Rgs7bp A G 13: 105,190,716 (GRCm39) S3P probably damaging Het
Sec24d T A 3: 123,147,073 (GRCm39) L677H probably damaging Het
Slc13a3 T C 2: 165,275,958 (GRCm39) R263G probably damaging Het
Slu7 C A 11: 43,328,320 (GRCm39) L45M probably damaging Het
Slu7 T A 11: 43,328,321 (GRCm39) L45Q probably damaging Het
Sp140 A G 1: 85,569,512 (GRCm39) D374G probably damaging Het
Sppl2b TGTCACAGGT TGT 10: 80,701,903 (GRCm39) probably null Het
Tex36 A T 7: 133,189,189 (GRCm39) S128T probably damaging Het
Tpbg T C 9: 85,726,138 (GRCm39) S36P unknown Het
Tubgcp2 C A 7: 139,613,588 (GRCm39) D30Y probably damaging Het
Vmn1r19 T C 6: 57,381,932 (GRCm39) S162P probably damaging Het
Other mutations in Got2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02567:Got2 APN 8 96,598,829 (GRCm39) missense probably benign 0.06
Toothpick UTSW 8 96,598,896 (GRCm39) missense probably benign 0.20
R0189:Got2 UTSW 8 96,614,881 (GRCm39) missense probably benign 0.11
R0254:Got2 UTSW 8 96,596,166 (GRCm39) missense probably benign 0.03
R1450:Got2 UTSW 8 96,598,614 (GRCm39) missense probably benign 0.00
R1552:Got2 UTSW 8 96,596,122 (GRCm39) missense probably benign 0.22
R2495:Got2 UTSW 8 96,614,918 (GRCm39) missense possibly damaging 0.81
R3946:Got2 UTSW 8 96,614,858 (GRCm39) missense probably benign
R4021:Got2 UTSW 8 96,604,381 (GRCm39) missense probably damaging 1.00
R4594:Got2 UTSW 8 96,598,814 (GRCm39) missense probably benign 0.15
R5087:Got2 UTSW 8 96,598,951 (GRCm39) missense probably benign 0.00
R5233:Got2 UTSW 8 96,602,477 (GRCm39) missense probably benign 0.33
R6156:Got2 UTSW 8 96,598,896 (GRCm39) missense probably benign 0.20
R6529:Got2 UTSW 8 96,615,013 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- ATGGTGGTAGAGCCGAGATCTG -3'
(R):5'- CACTTGGGGAAACTAGTGGG -3'

Sequencing Primer
(F):5'- AGATCTGGGGAAGCGTCC -3'
(R):5'- TCTAGCGTAGCGGATGAT -3'
Posted On 2021-03-10