|Institutional Source||Beutler Lab|
|Gene Name||adrenergic receptor, beta 1|
|Synonyms||Adrb-1, beta 1-AR|
|Is this an essential gene?||Possibly non essential (E-score: 0.393)|
|Stock #||R5447 (G1)|
|Chromosomal Location||56722372-56724862 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 56723087 bp|
|Amino Acid Change||Isoleucine to Threonine at position 239 (I239T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000040847 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038949]|
|Predicted Effect||probably benign
AA Change: I239T
PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: I239T
|Meta Mutation Damage Score||0.2287|
|Coding Region Coverage||
|Validation Efficiency||97% (71/73)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most mice homozygous for targeted mutations that inactivate the gene die prenatally, with the penetrance of lethality showing strain dependence. Surviving knockouts appear normal, but lack the chronotropic and inotropic responses seen in wild-type mice when beta-AR agonists such as isoproterenol are administered. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adrb1||
(F):5'- TTCGCTACCAGAGTTTGCTG -3'
(R):5'- AGTGTCTTGAGCGCCTTCTG -3'
(F):5'- TACCAGAGTTTGCTGACGCG -3'
(R):5'- GAGCGCCTTCTGCTCGC -3'