|Institutional Source||Beutler Lab|
|Gene Name||ornithine aminotransferase|
|Is this an essential gene?||Possibly essential (E-score: 0.699)|
|Stock #||R1528 (G1)|
|Chromosomal Location||132557478-132576398 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 132564269 bp|
|Amino Acid Change||Glycine to Cysteine at position 196 (G196C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000081544 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000084500] [ENSMUST00000124096]|
|Predicted Effect||probably damaging
AA Change: G196C
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: G196C
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy. Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes have been defined on the X chromosome. [provided by RefSeq, Jan 2010]
PHENOTYPE: Null mutants show neonatal hypoornithinemia and increased mortality prevented by administering arginine. Homozygotes for a spontaneous G353A point mutation have neonatal hypoornithinemia, adult hyperornithinemia, growth retardation, retarded fur development, cataracts, and retinal degeneration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Oat||
(F):5'- GCCCAGGACTGAGAATACAACTGAC -3'
(R):5'- TCTGTCTAGAGCCTGCTTTGAATGC -3'
(F):5'- agcccaggacctctcac -3'
(R):5'- TGGGTCTGAGGAAAGGTACTG -3'