Incidental Mutation 'IGL01776:Chrna7'
ID153861
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chrna7
Ensembl Gene ENSMUSG00000030525
Gene Namecholinergic receptor, nicotinic, alpha polypeptide 7
Synonymsalpha7-nAChR, alpha7, Acra7, alpha7 nicotinic receptor
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01776
Quality Score
Status
Chromosome7
Chromosomal Location63098692-63212569 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 63099519 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 405 (V405A)
Ref Sequence ENSEMBL: ENSMUSP00000032738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032738]
Predicted Effect probably benign
Transcript: ENSMUST00000032738
AA Change: V405A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000032738
Gene: ENSMUSG00000030525
AA Change: V405A

DomainStartEndE-ValueType
low complexity region 10 17 N/A INTRINSIC
Pfam:Neur_chan_LBD 26 230 1e-75 PFAM
Pfam:Neur_chan_memb 237 487 3.6e-63 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd17 G A 5: 90,283,364 Q854* probably null Het
Armc8 A G 9: 99,526,883 probably benign Het
Col8a2 C A 4: 126,309,805 probably benign Het
Dcn A G 10: 97,495,076 I91V possibly damaging Het
Dock7 T A 4: 98,940,941 R2069S possibly damaging Het
Gm7247 A G 14: 51,521,899 S112G possibly damaging Het
Hmcn1 T G 1: 150,672,038 T2721P possibly damaging Het
Hsd3b3 T C 3: 98,743,847 T96A probably benign Het
Ifi207 G A 1: 173,725,044 L936F probably damaging Het
Kcp G A 6: 29,497,908 P477S probably damaging Het
Mei1 T C 15: 82,095,932 probably null Het
Mgmt T A 7: 137,121,564 L121* probably null Het
Mrps35 G A 6: 147,070,716 V286I probably benign Het
Naxd T C 8: 11,505,525 probably null Het
Pam A G 1: 97,885,600 probably null Het
Plcxd1 G A 5: 110,101,380 probably benign Het
Rasgrp1 A G 2: 117,286,840 probably null Het
Spag9 C T 11: 94,116,727 probably benign Het
Spire2 T C 8: 123,359,392 S288P probably damaging Het
Stk11ip T C 1: 75,527,821 V322A probably benign Het
Syt17 A C 7: 118,409,953 L343R probably damaging Het
Tap1 G A 17: 34,193,128 V436I possibly damaging Het
Virma C T 4: 11,527,792 R1228C probably damaging Het
Other mutations in Chrna7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01999:Chrna7 APN 7 63103791 missense probably damaging 1.00
IGL02016:Chrna7 APN 7 63103835 missense probably damaging 1.00
IGL02388:Chrna7 APN 7 63107691 missense probably damaging 1.00
IGL02400:Chrna7 APN 7 63099322 missense probably damaging 1.00
IGL02458:Chrna7 APN 7 63106094 missense probably damaging 1.00
IGL03039:Chrna7 APN 7 63148592 missense probably damaging 1.00
inflation UTSW 7 63148601 missense probably damaging 1.00
thaler UTSW 7 63106027 missense probably damaging 1.00
R0034:Chrna7 UTSW 7 63148606 missense possibly damaging 0.79
R0631:Chrna7 UTSW 7 63099643 missense probably benign 0.00
R1666:Chrna7 UTSW 7 63212142 missense possibly damaging 0.70
R1703:Chrna7 UTSW 7 63099507 missense probably damaging 0.99
R1763:Chrna7 UTSW 7 63099252 missense probably benign 0.05
R1974:Chrna7 UTSW 7 63099286 missense probably damaging 1.00
R2294:Chrna7 UTSW 7 63110424 missense probably benign 0.11
R2393:Chrna7 UTSW 7 63099246 missense probably damaging 1.00
R4598:Chrna7 UTSW 7 63103790 missense probably damaging 1.00
R4599:Chrna7 UTSW 7 63103790 missense probably damaging 1.00
R4842:Chrna7 UTSW 7 63212448 missense probably benign 0.05
R5143:Chrna7 UTSW 7 63106147 missense probably damaging 1.00
R5310:Chrna7 UTSW 7 63106057 missense probably damaging 1.00
R5339:Chrna7 UTSW 7 63099307 missense probably damaging 1.00
R5516:Chrna7 UTSW 7 63099298 missense probably damaging 0.98
R5807:Chrna7 UTSW 7 63148601 missense probably damaging 1.00
R6501:Chrna7 UTSW 7 63106115 missense probably damaging 1.00
R6918:Chrna7 UTSW 7 63159551 missense probably benign 0.03
R7000:Chrna7 UTSW 7 63106039 missense probably damaging 1.00
R7189:Chrna7 UTSW 7 63106027 missense probably damaging 1.00
R7483:Chrna7 UTSW 7 63104990 missense probably damaging 1.00
Z1176:Chrna7 UTSW 7 63212184 missense probably damaging 1.00
Z1177:Chrna7 UTSW 7 63107551 critical splice donor site probably null
Posted On2014-02-04