Incidental Mutation 'R6652:Gpt2'
ID 528093
Institutional Source Beutler Lab
Gene Symbol Gpt2
Ensembl Gene ENSMUSG00000031700
Gene Name glutamic pyruvate transaminase (alanine aminotransferase) 2
Synonyms 4631422C05Rik, ALT2
MMRRC Submission 044773-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R6652 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 86219205-86254189 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86244681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 325 (E325K)
Ref Sequence ENSEMBL: ENSMUSP00000034136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034136] [ENSMUST00000132932]
AlphaFold Q8BGT5
Predicted Effect probably benign
Transcript: ENSMUST00000034136
AA Change: E325K

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000034136
Gene: ENSMUSG00000031700
AA Change: E325K

DomainStartEndE-ValueType
low complexity region 23 34 N/A INTRINSIC
Pfam:Aminotran_1_2 110 510 6.3e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132932
SMART Domains Protein: ENSMUSP00000115968
Gene: ENSMUSG00000031700

DomainStartEndE-ValueType
low complexity region 23 34 N/A INTRINSIC
PDB:3IHJ|A 48 148 6e-63 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140189
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143846
Meta Mutation Damage Score 0.0666 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.7%
Validation Efficiency 100% (42/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial alanine transaminase, a pyridoxal enzyme that catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate. Alanine transaminases play roles in gluconeogenesis and amino acid metabolism in many tissues including skeletal muscle, kidney, and liver. Activating transcription factor 4 upregulates this gene under metabolic stress conditions in hepatocyte cell lines. A loss of function mutation in this gene has been associated with developmental encephalopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypoactivity, reduced postnatal brain growth, various metabolic defects in pathways involving amino acid metabolism, the TCA cycle and neuroprotective mechanisms, and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,846,164 (GRCm39) D605G probably damaging Het
Cfh A T 1: 140,071,806 (GRCm39) I294N probably benign Het
Clk3 A G 9: 57,669,078 (GRCm39) S49P probably damaging Het
Cmya5 A G 13: 93,229,403 (GRCm39) V1895A probably benign Het
Cmya5 T C 13: 93,229,547 (GRCm39) D1847G probably damaging Het
Cwf19l1 T C 19: 44,103,138 (GRCm39) D359G probably benign Het
Dag1 A T 9: 108,086,289 (GRCm39) M284K probably damaging Het
Ergic2 T C 6: 148,091,079 (GRCm39) Y211C probably damaging Het
Espnl A C 1: 91,272,421 (GRCm39) I594L probably benign Het
Fam193b A G 13: 55,690,603 (GRCm39) S226P probably damaging Het
Fat2 T A 11: 55,143,088 (GRCm39) I4254L probably benign Het
Fhdc1 T C 3: 84,371,631 (GRCm39) Y108C probably damaging Het
Fut9 G C 4: 25,620,619 (GRCm39) T65S probably benign Het
Gm9507 A T 10: 77,647,493 (GRCm39) probably benign Het
Grap2 A T 15: 80,532,723 (GRCm39) N297Y probably damaging Het
Igfn1 A G 1: 135,891,609 (GRCm39) F2302S probably damaging Het
Ighv1-81 T A 12: 115,884,051 (GRCm39) I67F probably damaging Het
Kidins220 T A 12: 25,060,059 (GRCm39) probably null Het
Kti12 T A 4: 108,705,730 (GRCm39) S215T probably benign Het
Mc1r G A 8: 124,134,370 (GRCm39) G41D probably damaging Het
Mov10l1 A G 15: 88,878,105 (GRCm39) Y129C probably damaging Het
Mthfsd A T 8: 121,825,560 (GRCm39) L337Q probably damaging Het
Musk C T 4: 58,368,977 (GRCm39) A629V probably damaging Het
Nadsyn1 A T 7: 143,364,955 (GRCm39) M250K probably benign Het
Ncapd2 G A 6: 125,163,233 (GRCm39) H92Y probably benign Het
Or4e5 C T 14: 52,728,250 (GRCm39) R57Q probably benign Het
Or6y1 G A 1: 174,276,627 (GRCm39) C146Y probably damaging Het
Plec A T 15: 76,063,974 (GRCm39) V2100E probably damaging Het
Prss37 C A 6: 40,496,090 (GRCm39) probably benign Het
Sebox A T 11: 78,394,631 (GRCm39) E32V probably damaging Het
Senp7 C A 16: 55,944,257 (GRCm39) Q194K probably benign Het
Sfxn3 G A 19: 45,038,354 (GRCm39) probably null Het
Spart G A 3: 55,032,248 (GRCm39) E361K probably benign Het
Stn1 T C 19: 47,496,017 (GRCm39) T334A probably benign Het
Stoml1 A G 9: 58,164,017 (GRCm39) D112G probably damaging Het
Thap2 T A 10: 115,212,441 (GRCm39) D28V probably damaging Het
Ubap2 A T 4: 41,196,743 (GRCm39) N872K possibly damaging Het
Vezt A G 10: 93,806,141 (GRCm39) F757L probably damaging Het
Vmn1r204 T C 13: 22,740,573 (GRCm39) I68T probably damaging Het
Wnt10a A G 1: 74,842,613 (GRCm39) probably null Het
Yipf7 A G 5: 69,698,504 (GRCm39) M1T probably null Het
Zdhhc19 T C 16: 32,316,047 (GRCm39) F48S probably damaging Het
Zfp317 C T 9: 19,558,335 (GRCm39) T183I probably damaging Het
Other mutations in Gpt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Gpt2 APN 8 86,238,953 (GRCm39) missense probably benign
IGL01611:Gpt2 APN 8 86,246,167 (GRCm39) nonsense probably null
IGL02385:Gpt2 APN 8 86,242,782 (GRCm39) splice site probably null
IGL02484:Gpt2 APN 8 86,242,862 (GRCm39) missense probably damaging 1.00
IGL02589:Gpt2 APN 8 86,242,795 (GRCm39) nonsense probably null
IGL02669:Gpt2 APN 8 86,249,908 (GRCm39) missense probably benign 0.02
R1191:Gpt2 UTSW 8 86,235,901 (GRCm39) missense probably damaging 1.00
R1599:Gpt2 UTSW 8 86,238,863 (GRCm39) missense probably damaging 1.00
R1944:Gpt2 UTSW 8 86,244,625 (GRCm39) missense probably damaging 1.00
R1953:Gpt2 UTSW 8 86,248,013 (GRCm39) missense probably benign 0.00
R1962:Gpt2 UTSW 8 86,219,764 (GRCm39) missense probably damaging 0.99
R1982:Gpt2 UTSW 8 86,242,832 (GRCm39) missense possibly damaging 0.75
R2283:Gpt2 UTSW 8 86,242,818 (GRCm39) missense probably benign
R3785:Gpt2 UTSW 8 86,252,202 (GRCm39) missense probably benign
R3786:Gpt2 UTSW 8 86,252,202 (GRCm39) missense probably benign
R3787:Gpt2 UTSW 8 86,252,202 (GRCm39) missense probably benign
R4402:Gpt2 UTSW 8 86,252,188 (GRCm39) missense probably benign 0.32
R4974:Gpt2 UTSW 8 86,246,068 (GRCm39) splice site probably benign
R5457:Gpt2 UTSW 8 86,238,967 (GRCm39) missense possibly damaging 0.90
R5589:Gpt2 UTSW 8 86,219,740 (GRCm39) missense probably damaging 1.00
R5734:Gpt2 UTSW 8 86,249,885 (GRCm39) missense probably benign 0.17
R5924:Gpt2 UTSW 8 86,219,633 (GRCm39) missense probably damaging 1.00
R6371:Gpt2 UTSW 8 86,244,681 (GRCm39) missense probably benign 0.03
R6651:Gpt2 UTSW 8 86,244,681 (GRCm39) missense probably benign 0.03
R6895:Gpt2 UTSW 8 86,244,681 (GRCm39) missense probably benign 0.03
R6898:Gpt2 UTSW 8 86,244,681 (GRCm39) missense probably benign 0.03
R6923:Gpt2 UTSW 8 86,244,681 (GRCm39) missense probably benign 0.03
R6955:Gpt2 UTSW 8 86,244,681 (GRCm39) missense probably benign 0.03
R6956:Gpt2 UTSW 8 86,244,681 (GRCm39) missense probably benign 0.03
R7112:Gpt2 UTSW 8 86,244,681 (GRCm39) missense probably benign 0.03
R7113:Gpt2 UTSW 8 86,244,681 (GRCm39) missense probably benign 0.03
R7115:Gpt2 UTSW 8 86,244,681 (GRCm39) missense probably benign 0.03
R7124:Gpt2 UTSW 8 86,244,681 (GRCm39) missense probably benign 0.03
R7125:Gpt2 UTSW 8 86,244,681 (GRCm39) missense probably benign 0.03
R7327:Gpt2 UTSW 8 86,244,681 (GRCm39) missense probably benign 0.03
R7486:Gpt2 UTSW 8 86,252,235 (GRCm39) missense probably damaging 0.98
R7582:Gpt2 UTSW 8 86,246,145 (GRCm39) missense probably damaging 1.00
R7986:Gpt2 UTSW 8 86,235,839 (GRCm39) nonsense probably null
R8274:Gpt2 UTSW 8 86,242,853 (GRCm39) missense probably benign 0.38
R8376:Gpt2 UTSW 8 86,219,694 (GRCm39) missense probably benign 0.00
X0058:Gpt2 UTSW 8 86,244,648 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- CAAAGCTGGATTTTGTGGCC -3'
(R):5'- CAAGTGATGAAGGCTGCTTTC -3'

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