|Institutional Source||Beutler Lab|
|Gene Name||cholinergic receptor, nicotinic, alpha polypeptide 6|
|Synonyms||Acra6, alpha6 nAChR|
|Is this an essential gene?||Probably non essential (E-score: 0.092)|
|Stock #||R0087 (G1)|
|Chromosomal Location||27403212-27413944 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 27406986 bp|
|Amino Acid Change||Valine to Methionine at position 288 (V288M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033882 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033882]|
|Predicted Effect||probably damaging
AA Change: V288M
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: V288M
|Meta Mutation Damage Score||0.0616|
|Coding Region Coverage||
|Validation Efficiency||86% (59/69)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha subunit of neuronal nicotinic acetylcholine receptors. These receptors consist of five subunits and function as ion channels involved in neurotransmission. The encoded protein is a subunit of neuronal nicotinic acetylcholine receptors that mediate dopaminergic neurotransmission and are activated by acetylcholine and exogenous nicotine. Alternatively spliced transcript variants have been observed for this gene. Single nucleotide polymorphisms in this gene have been associated with both nicotine and alcohol dependence. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homzygous mutant animals have decreased numbers of high affinity binding sites for [3H]nicotine, [3H]epibaditine, and [3H]cytisine in the terminal region of the retinal ganglion. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Chrna6||
(F):5'- CTGAAGGAAGATGGTCTTCACCCAC -3'
(R):5'- GACGCCTCTGGCTATAAGCATGAC -3'
(F):5'- ACCCACTTGGGCATGGTATG -3'
(R):5'- GACATCAAGTACAACTGCTGTG -3'