|Institutional Source||Beutler Lab|
|Gene Name||adrenergic receptor, beta 2|
|Synonyms||Gpcr7, beta 2-AR, Adrb-2, beta 2-adrenoceptor, Badm|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4367 (G1)|
|Chromosomal Location||62177817-62179959 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 62179056 bp|
|Amino Acid Change||Isoleucine to Valine at position 233 (I233V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000062256 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000053640] [ENSMUST00000067743]|
|Predicted Effect||probably damaging
AA Change: I233V
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: I233V
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.25|
|Coding Region Coverage||
|Validation Efficiency||98% (54/55)|
FUNCTION: This intronless gene belongs to the G-protein-coupled receptor superfamily, which includes transmembrane proteins that play a role in signal transduction across biological membranes resulting in a variety of physiological responses. The encoded protein is a beta-2 adrenergic receptor which is activated by catecholamine ligands such as adrenaline and epinephrine. The protein participates in the classical signaling pathway involving G protein, adenylyl cyclase, cAMP (3'-5'-cyclic adenosine monophosphate) and protein kinase A (PKA). In humans, this gene is implicated in susceptibility to nocturnal asthma, obesity and type 2 diabetes. [provided by RefSeq, Apr 2013]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene exhibit increased bone mass. The primary physiological consequences are seen during exercise stress and result from alterations in vascular tone and energy metabolism. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adrb2||
(F):5'- TGTCCCTGATAACGTGCACG -3'
(R):5'- TTGCCTATCCAGATGCACTG -3'
(F):5'- GTCCCTGATAACGTGCACGATATTG -3'
(R):5'- AGATGCACTGGTACCGTGC -3'