|Institutional Source||Beutler Lab|
|Gene Name||tryptophan 2,3-dioxygenase|
|Synonyms||chky, TO, TDO|
|Is this an essential gene?||Probably non essential (E-score: 0.146)|
|Stock #||R3616 (G1)|
|Chromosomal Location||81957090-81976202 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 81975428 bp|
|Amino Acid Change||Tyrosine to Histidine at position 13 (Y13H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029645 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029645] [ENSMUST00000193879]|
|Predicted Effect||possibly damaging
AA Change: Y13H
PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: Y13H
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.0624|
|Coding Region Coverage||
|Validation Efficiency||100% (29/29)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a heme enzyme that plays a critical role in tryptophan metabolism by catalyzing the first and rate-limiting step of the kynurenine pathway. Increased activity of the encoded protein and subsequent kynurenine production may also play a role in cancer through the suppression of antitumor immune responses, and single nucleotide polymorphisms in this gene may be associated with autism. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased plasma and brain levels of tryptophan, increased serotonin levels in the brain, decreased anxiety-related behavior, increased neuronal precursor proliferation and accelerated neurogenesis in the granule cell layer of the olfactory bulb. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tdo2||
(F):5'- CGAAGGTTCAGAAAACTACTGG -3'
(R):5'- TTCCAGCCTTAGCCTATAAACAGTC -3'
(F):5'- GGTTCAGAAAACTACTGGTGATTG -3'
(R):5'- GCCTATAAACAGTCAAATTCCTGG -3'