|Institutional Source||Beutler Lab|
|Gene Name||cholinergic receptor, nicotinic, alpha polypeptide 7|
|Synonyms||alpha7-nAChR, alpha7, Acra7, alpha7 nicotinic receptor|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5516 (G1)|
|Chromosomal Location||63098692-63212569 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 63099298 bp|
|Amino Acid Change||Threonine to Proline at position 479 (T479P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032738 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032738]|
|Predicted Effect||probably damaging
AA Change: T479P
PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
AA Change: T479P
|Meta Mutation Damage Score||0.4683|
|Coding Region Coverage||
|Validation Efficiency||97% (58/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
PHENOTYPE: Nullizygous mice lack hippocampal fast nicotinic currents but show nicotine-induced seizures as well as altered anxiety behavior, fertility defects, airway basal cell hyperplasia. and higher TNF sythesis when endotoxemic. Newborns homozygous for a knock-in allele die with increased neuron apoptosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Chrna7||
(F):5'- AACAGAAGCTGCTGGGATC -3'
(R):5'- TGGTACACACCCCTCTGATG -3'
(F):5'- AACAGAAGCTGCTGGGATCTTTTTAG -3'
(R):5'- TCTGCAGTGAGTGGAAGT -3'