Incidental Mutation 'R3786:Gpt2'
ID 272258
Institutional Source Beutler Lab
Gene Symbol Gpt2
Ensembl Gene ENSMUSG00000031700
Gene Name glutamic pyruvate transaminase (alanine aminotransferase) 2
Synonyms 4631422C05Rik, ALT2
MMRRC Submission 040753-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R3786 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 86219205-86254189 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 86252202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 506 (V506L)
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: V506L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034136
Gene: ENSMUSG00000031700
AA Change: V506L

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T A 3: 97,066,605 (GRCm39) L41Q probably damaging Het
Aoc1 T C 6: 48,882,589 (GRCm39) L177P probably damaging Het
Btbd7 C T 12: 102,804,411 (GRCm39) E210K probably benign Het
C1qtnf12 G A 4: 156,050,356 (GRCm39) R231H probably damaging Het
Cenpf T A 1: 189,390,534 (GRCm39) E1099D probably damaging Het
Dennd3 T C 15: 73,419,426 (GRCm39) V739A possibly damaging Het
Dmxl1 G A 18: 49,998,189 (GRCm39) S763N probably damaging Het
Dzip3 C A 16: 48,795,906 (GRCm39) C155F probably benign Het
Fam161b A T 12: 84,408,464 (GRCm39) probably null Het
Fancd2 T G 6: 113,542,165 (GRCm39) S770A probably damaging Het
Hao2 T A 3: 98,784,068 (GRCm39) E327V probably damaging Het
Heatr1 G T 13: 12,449,341 (GRCm39) L1946F probably damaging Het
Hnrnpl A G 7: 28,510,436 (GRCm39) probably benign Het
Itgb1 T A 8: 129,439,839 (GRCm39) I176N probably damaging Het
Kif13b C T 14: 65,037,849 (GRCm39) T1505I probably benign Het
Magi2 C T 5: 20,670,907 (GRCm39) T580M probably damaging Het
Mettl3 A T 14: 52,537,363 (GRCm39) I102N probably benign Het
Mgat4c A G 10: 102,220,931 (GRCm39) H71R probably damaging Het
Misp G A 10: 79,661,795 (GRCm39) V71I probably benign Het
Muc2 A G 7: 141,283,590 (GRCm39) Q734R probably benign Het
Muc5b C T 7: 141,418,853 (GRCm39) T3933I possibly damaging Het
Myh13 A G 11: 67,218,014 (GRCm39) N29S probably benign Het
Myo15a A T 11: 60,368,398 (GRCm39) Y386F probably damaging Het
Neb C A 2: 52,091,927 (GRCm39) V5046F probably damaging Het
Neurod1 T A 2: 79,284,939 (GRCm39) N148I probably damaging Het
Nrg1 A T 8: 32,311,411 (GRCm39) V376E probably damaging Het
Nsa2 G T 13: 97,272,042 (GRCm39) Q60K possibly damaging Het
Odr4 A G 1: 150,260,282 (GRCm39) I112T probably benign Het
Ppp1r21 T A 17: 88,884,555 (GRCm39) probably null Het
Rala T A 13: 18,057,031 (GRCm39) E185V probably benign Het
Rhoc T C 3: 104,700,003 (GRCm39) probably null Het
Robo3 A G 9: 37,333,521 (GRCm39) V708A probably damaging Het
Rtcb G T 10: 85,778,458 (GRCm39) T395K possibly damaging Het
Rttn A G 18: 89,056,018 (GRCm39) T967A probably benign Het
Sacs C A 14: 61,421,410 (GRCm39) Q116K probably damaging Het
Smarca4 A G 9: 21,583,355 (GRCm39) H1062R possibly damaging Het
Spatc1l C T 10: 76,399,736 (GRCm39) T86I probably benign Het
Thbs4 T C 13: 92,909,672 (GRCm39) N375S probably benign Het
Tsc1 A G 2: 28,577,154 (GRCm39) D1151G probably damaging Het
Ttll1 T C 15: 83,368,419 (GRCm39) D413G probably benign Het
Wap G A 11: 6,588,550 (GRCm39) Q25* probably null Het
Wnt16 A G 6: 22,298,021 (GRCm39) N296D probably benign 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
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
R6652: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'- CAGAATCTGGTTTATTGCTTTCCG -3'
(R):5'- CATTGCAAAACCACTGTTTGC -3'

Sequencing Primer
(F):5'- CGGGTCTGACTGTAGTAGAAATGCC -3'
(R):5'- TGCAAAACCACTGTTTGCTCGAAG -3'
Posted On 2015-03-25