|Institutional Source||Beutler Lab|
|Gene Name||tryptophan hydroxylase 2|
|Is this an essential gene?||Possibly non essential (E-score: 0.275)|
|Stock #||R3710 (G1)|
|Chromosomal Location||115078641-115185022 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 115174058 bp|
|Amino Acid Change||Tyrosine to Phenylalanine at position 199 (Y199F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000006949 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000006949]|
|Predicted Effect||probably benign
AA Change: Y199F
PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: Y199F
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.2276|
|Coding Region Coverage||
|Validation Efficiency||98% (55/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the pterin-dependent aromatic acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene may be associated with psychiatric diseases such as bipolar affective disorder and major depression. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mutations in this locus result in abnormal serotonin levels in the brain. Whether an increase or decrease in serotonin levels is seen depends on the specific nucleotide substitution/point mutation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tph2||
(F):5'- GTAACACTAGGGATGGAGCC -3'
(R):5'- CAGTCGGTCATCTGAGGATACG -3'
(F):5'- CCGCAGAGCTCATGATTTCAGATG -3'
(R):5'- CGGTCATCTGAGGATACGATTTAC -3'