|Institutional Source||Beutler Lab|
|Gene Name||cholinergic receptor, muscarinic 5|
|Synonyms||M5R, muscarinic acetylcholine receptor 5|
|Is this an essential gene?||Probably non essential (E-score: 0.089)|
|Stock #||R1693 (G1)|
|Chromosomal Location||112479171-112480769 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 112479280 bp|
|Amino Acid Change||Leucine to Proline at position 497 (L497P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000097185 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099589]|
|Predicted Effect||probably damaging
AA Change: L497P
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: L497P
|Meta Mutation Damage Score||0.8747|
|Coding Region Coverage||
|Validation Efficiency||96% (69/72)|
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 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 clinical implications of this receptor are unknown; however, stimulation of this receptor is known to increase cyclic AMP levels. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null allele exhibit loss of acetylcholine-induced dilation of cerebral arteries, decreased pilocarpine-induced salivation, increased water-deprivation induced drinking, and attenuated morphine reinforcement and withdrawal. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Chrm5||
(F):5'- AGACCTTGCACCTTGACAAGCC -3'
(R):5'- GTTCCTTCCCAGTGTCCAAAGACC -3'
(F):5'- TTGACAAGCCTTCAGGGACTC -3'
(R):5'- ACGAAAGAGAATGGTCCTAGTC -3'