|Institutional Source||Beutler Lab|
|Gene Name||aminoadipate aminotransferase|
|Synonyms||KATII, Kat2, mKat-2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1585 (G1)|
|Chromosomal Location||60505932-60545677 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 60526680 bp|
|Amino Acid Change||Aspartic acid to Valine at position 192 (D192V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000148060 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000079472] [ENSMUST00000209338]|
|Predicted Effect||probably benign
AA Change: D185V
PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: D185V
|Predicted Effect||possibly damaging
AA Change: D192V
PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|Meta Mutation Damage Score||0.0588|
|Coding Region Coverage||
|Validation Efficiency||95% (81/85)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is highly similar to mouse and rat kynurenine aminotransferase II. The rat protein is a homodimer with two transaminase activities. One activity is the transamination of alpha-aminoadipic acid, a final step in the saccaropine pathway which is the major pathway for L-lysine catabolism. The other activity involves the transamination of kynurenine to produce kynurenine acid, the precursor of kynurenic acid which has neuroprotective properties. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
PHENOTYPE: Homozygous null mice are viable and display earlier eye opening and development of air righting and open field crossing responses, and transient hyperactivity and neuronal abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Aadat||
(F):5'- AGGGCATGAGCAGAACAGTTCTTC -3'
(R):5'- TGAGACCGCATAGCTACTTCCAGAG -3'
(F):5'- GAGCAGAACAGTTCTTCATAAAAAC -3'
(R):5'- CGTATCACATTAGTTGGAACCCTG -3'