|Institutional Source||Beutler Lab|
|Gene Name||cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)|
|Synonyms||AChR beta, Acrb, Achr-2|
|Is this an essential gene?||Possibly non essential (E-score: 0.263)|
|Stock #||R5000 (G1)|
|Chromosomal Location||69784036-69795943 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 69787032 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 298 (V298E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047270 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045971] [ENSMUST00000108639]|
|Predicted Effect||probably damaging
AA Change: V298E
PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: V298E
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.4897|
|Coding Region Coverage||
|Validation Efficiency||98% (97/99)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-in allele lack all tyrosine residues in the beta subunit intracellular loop, display reduced and simplified neuromuscular junctions, and show defective acetylcholine receptor clustering and anchoring at synapses. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Chrnb1||
(F):5'- ATGCAGAGAGCTCTCCTACC -3'
(R):5'- AGAGATGTCCTTCTGGTAAAGACG -3'
(F):5'- TACCTGGCGGACCCAAAAGG -3'
(R):5'- GTCCTTCTGGTAAAGACGAATCC -3'