|Institutional Source||Beutler Lab|
|Gene Name||glutamic pyruvate transaminase (alanine aminotransferase) 2|
|Is this an essential gene?||Probably non essential (E-score: 0.202)|
|Stock #||R1599 (G1)|
|Chromosomal Location||85492576-85527560 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 85512234 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 232 (Y232C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034136 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034136] [ENSMUST00000132932]|
|Predicted Effect||probably damaging
AA Change: Y232C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y232C
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
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||
|Other mutations in Gpt2||
(F):5'- CCTCTTGAAGGATGAGAGAAGCAGC -3'
(R):5'- TAGTCAAGTGTCTGGCACACCAGC -3'
(F):5'- acgattcataacagcagcaag -3'
(R):5'- TGGCACACCAGCCACTC -3'