|Institutional Source||Beutler Lab|
|Gene Name||adrenergic receptor, alpha 2c|
|Synonyms||alpha2-C4, subtype alpha2-C4, Adra-2c, alpha2C, [a]2C|
|Is this an essential gene?||Possibly non essential (E-score: 0.312)|
|Stock #||R6276 (G1)|
|Chromosomal Location||35278319-35281763 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 35280079 bp (GRCm38)|
|Amino Acid Change||Threonine to Isoleucine at position 65 (T65I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000059705 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049545]|
AA Change: T65I
PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: T65I
|Coding Region Coverage||
|Validation Efficiency||100% (71/71)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. The mouse studies revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons. The alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes the alpha2C subtype, which contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are viable and fertile and appear grossly normal. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adra2c||
(F):5'- TAGCTCTCGGGAGGACCATG -3'
(R):5'- GTCCAGTGCCAGGTATACAC -3'
(F):5'- GGAGGACCATGGCGTCC -3'
(R):5'- GGTATACACCACACCACACTTG -3'