|Institutional Source||Beutler Lab|
|Gene Name||adrenergic receptor, alpha 2a|
|Synonyms||alpha2A-AR, Adra-2a, Adra-2, alpha2A, alpha2A-adrenergic receptor, alpha(2A)AR|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4984 (G1)|
|Chromosomal Location||54045182-54048982 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 54046639 bp|
|Amino Acid Change||Isoleucine to Threonine at position 142 (I142T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000036203 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036700]|
|Predicted Effect||probably damaging
AA Change: I142T
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I142T
|Meta Mutation Damage Score||0.49|
|Coding Region Coverage||
|Validation Efficiency||98% (41/42)|
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. Studies in mouse 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 alpha2A subtype and it 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 fail to produce hypotensive responsiveness to alpha2AR agonists, including failure to inhibit voltage-gated Ca2+ currents and spontaneous neuronal firing. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adra2a||
(F):5'- TTATCGCGGTGTTCACCAGTC -3'
(R):5'- TGATCTTGCAGCTTGGCTCG -3'
(F):5'- TCGCGCGCTCAAAGCTC -3'
(R):5'- CCACACGGTGACAATGA -3'