|Institutional Source||Beutler Lab|
|Gene Name||cholinergic receptor, muscarinic 2, cardiac|
|Synonyms||muscarinic acetylcholine receptor 2, M2, Chrm-2, AChR M2|
|Is this an essential gene?||Probably non essential (E-score: 0.090)|
|Stock #||R3552 (G1)|
|Chromosomal Location||36388084-36528414 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 36523810 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 201 (I201F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000130874 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000172278]|
|Predicted Effect||probably damaging
AA Change: I201F
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I201F
|Meta Mutation Damage Score||0.7447|
|Coding Region Coverage||
|Validation Efficiency||100% (66/66)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine to these receptors and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 2 is involved in mediation of bradycardia and a decrease in cardiac contractility. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants have slightly decreased body weight (5%) compared to wild-type animals and are resistant to the tremorogenic, analgesic, and hypothermic responses to oxotremorine. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Chrm2||
(F):5'- GCATGATGATTGCAGCTGC -3'
(R):5'- ACGCAGTTTTCAGTCCCACC -3'
(F):5'- CAGCTGCGTGGGTTCTTTCC -3'
(R):5'- GGAGCCTTGCCATTCTGGATC -3'