|Institutional Source||Beutler Lab|
|Gene Name||5-hydroxytryptamine (serotonin) receptor 2A|
|Synonyms||Htr2, 5-HT2A receptor, Htr-2|
|Is this an essential gene?||Probably non essential (E-score: 0.074)|
|Stock #||R0729 (G1)|
|Chromosomal Location||74640840-74709494 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 74642147 bp|
|Amino Acid Change||Glutamine to Leucine at position 72 (Q72L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047774 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036653]|
|Predicted Effect||probably benign
AA Change: Q72L
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: Q72L
|Meta Mutation Damage Score||0.0646|
|Coding Region Coverage||
|Validation Efficiency||97% (74/76)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the receptors for serotonin, a neurotransmitter with many roles. Mutations in this gene are associated with susceptibility to schizophrenia and obsessive-compulsive disorder, and are also associated with response to the antidepressant citalopram in patients with major depressive disorder (MDD). MDD patients who also have a mutation in intron 2 of this gene show a significantly reduced response to citalopram as this antidepressant downregulates expression of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele show altered anxiety-related responses and increased vertical activity. Mice homozygous for a different knock-out allele exhibit abnormal enterocyte, Paneth cell and smooth muscle morphology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Htr2a||
(F):5'- GCGAGGCATAATCAAGAGCCATCAC -3'
(R):5'- GGTTAACATGGACACGGGCATGAC -3'
(F):5'- AACTTCCGGCTTAGACATGG -3'
(R):5'- TGACAAGGAAACCCAGCAG -3'