|Institutional Source||Beutler Lab|
|Gene Name||5-hydroxytryptamine (serotonin) receptor 2C|
|Synonyms||5-HT2C receptor, SR1, 5HT1c, Htr1c, 5-HT2cR|
|Is this an essential gene?||Not available|
|Stock #||R4734 (G1)|
|Chromosomal Location||146962513-147197277 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 147193797 bp|
|Amino Acid Change||Threonine to Alanine at position 163 (T163A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000138772 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036303] [ENSMUST00000096299] [ENSMUST00000156697]|
|Predicted Effect||probably benign
AA Change: T163A
PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: T163A
|Coding Region Coverage||
FUNCTION: Serotonin (5-hydroxytryptamine, 5-HT), a neurotransmitter, elicits a wide array of physiological effects by binding to several receptor subtypes, including the 5-HT2 family of seven-transmembrane-spanning, G-protein-coupled receptors, which activate phospholipase C and D signaling pathways. This gene encodes the 2C subtype of serotonin receptor and its mRNA is subject to multiple RNA editing events, where genomically encoded adenosine residues are converted to inosines. RNA editing is predicted to alter amino acids within the second intracellular loop of the 5-HT2C receptor and generate receptor isoforms that differ in their ability to interact with G proteins and the activation of phospholipase C and D signaling cascades, thus modulating serotonergic neurotransmission in the central nervous system. Studies in rodents show altered patterns of RNA editing in response to drug treatments and stressful situations. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit hyperactivity, hyperphagia, reduced energy cost of locomotion, late-onset obesity, insulin resistance, and altered responses to cocaine. Mutants are also subject to spontaneous death from seizures. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Htr2c||
(F):5'- GCACCAATACTTTCCAGGAGC -3'
(R):5'- CAGCACTTTAGAAAGTTCAGGCTG -3'
(F):5'- ATACTTTCCAGGAGCTTCCAGAG -3'
(R):5'- TCGGTGTGACCTCGAAGTAACATC -3'