Chrna7 - SNV Details



 Human Rare Diseases 
15q13.3 microdeletion syndrome

 Gene Information 
Gene Name Chrna7
Old Gene Names for Chrna7 Acra7
Gene Description cholinergic receptor, nicotinic, alpha polypeptide 7 [Source:MGI Symbol;Acc:MGI:99779]
MGI 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.
Uniprot Name
CCDS Name
Gene GO
B cell activation; dendritic shaft; postsynaptic membrane; response to food; membrane; generation of ovulation cycle rhythm; integral to membrane; drug binding; acetylcholine-gated channel complex; positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure; apical plasma membrane; negative regulation of inflammatory response; associative learning; cytoplasm; behavioral response to nicotine; extracellular ligand-gated ion channel activity; regulation of norepinephrine secretion; behavioral response to ethanol; response to chemical stimulus; response to nicotine; membrane raft; calcium ion transport; external side of plasma membrane; protein binding; neuronal cell body; negative regulation of interleukin-1 beta production; cell junction; regulation of synaptic transmission
dopaminergic; axon; negative regulation of interleukin-6 production; transport; ion transport; dendritic spine; response to ethanol; ovulation cycle; dopamine biosynthetic process; regulation of action potential in neuron; growth cone; regulation of inflammatory response; adenylate cyclase binding; plasma membrane; dendrite; sperm motility; negative regulation of tumor necrosis factor production; asymmetric synapse; acetylcholine binding; regulation of membrane potential; memory; synaptic transmission
cholinergic; T cell activation; protein kinase binding; acetylcholine-activated cation-selective channel activity; presynaptic membrane; endocytosis; postsynaptic density
Homolog in other species CHRNA7
Omim http://omim.org/entry/118511
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
MEDIAN
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000030525
Chromosome 7
Coordinate 63,106,094     (Assembly: GRCm38)    
Ref Base G
Codon Change Ctc/Ttc
Var Base A
Zygosity Heterozygous
Read Depth 14
Allele Frequency
G:R0.43
A:V0.57
Amino Acid Position 235
Amino Acid Change L->F (Leucine -> Phenylalanine)
Sample ID IGL02458
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 69 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.99
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved