Incidental Mutation 'IGL02458:Chrna7'
ID294525
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 #IGL02458
Quality Score
Status
Chromosome7
Chromosomal Location63098692-63212569 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 63106094 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 235 (L235F)
Ref Sequence ENSEMBL: ENSMUSP00000032738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032738]
Predicted Effect probably damaging
Transcript: ENSMUST00000032738
AA Change: L235F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032738
Gene: ENSMUSG00000030525
AA Change: L235F

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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A T 8: 40,753,807 I37L probably benign Het
Alpk1 A G 3: 127,681,319 probably null Het
Ankrd33 T C 15: 101,116,607 F8L probably damaging Het
Avil A G 10: 127,016,353 K669R probably benign Het
Bcor G T X: 12,048,510 L1165I probably damaging Het
C7 A G 15: 5,059,389 probably benign Het
Cc2d2a A G 5: 43,718,554 I958V probably benign Het
Cenpe A T 3: 135,230,108 K435* probably null Het
Col6a3 C A 1: 90,779,197 V2065L unknown Het
Copb1 A T 7: 114,246,785 N183K probably benign Het
Cpn2 G A 16: 30,260,835 A16V probably benign Het
Cul1 A G 6: 47,525,608 K769E possibly damaging Het
Ddx58 A G 4: 40,229,536 S83P probably damaging Het
Deup1 C T 9: 15,592,360 V302M probably benign Het
Dnah17 T C 11: 118,036,350 K3871E probably damaging Het
Dnah6 A G 6: 73,027,448 V3844A probably benign Het
Dnah7a A T 1: 53,618,328 L763* probably null Het
Donson A T 16: 91,681,176 W461R probably damaging Het
Dpp10 T C 1: 123,341,689 I664V probably benign Het
Dusp8 T A 7: 142,082,747 T369S probably benign Het
Dync2h1 A T 9: 7,117,422 L56Q probably damaging Het
Ecd A T 14: 20,324,477 S532T probably benign Het
Frg2f1 G A 4: 119,530,957 T115I probably damaging Het
Gpatch2l A G 12: 86,288,961 probably benign Het
Gtf3c2 T A 5: 31,159,523 probably null Het
Haghl T C 17: 25,783,496 probably benign Het
Hoxc8 A T 15: 102,992,749 N208I probably damaging Het
Igf2 T C 7: 142,654,048 D115G probably benign Het
Jag2 T A 12: 112,915,993 D385V probably damaging Het
Laptm4b A G 15: 34,258,742 H54R probably benign Het
Lrp2 A G 2: 69,521,773 S640P probably damaging Het
Map3k8 A C 18: 4,334,660 V328G probably damaging Het
Mfsd13a A G 19: 46,372,247 E388G probably damaging Het
Ms4a13 G A 19: 11,171,928 T168I probably benign Het
Mtg1 C A 7: 140,150,172 Q294K probably benign Het
Myh3 C T 11: 67,096,940 A1413V possibly damaging Het
Neo1 A T 9: 58,893,867 probably benign Het
Ogfod3 T C 11: 121,200,923 E119G probably benign Het
Olfr1250 A G 2: 89,657,348 L31P probably damaging Het
Olfr1331 A G 4: 118,869,300 N173S possibly damaging Het
Olfr331 A T 11: 58,502,247 M109K probably benign Het
Olfr800 A T 10: 129,660,606 I267F probably benign Het
Olfr988 G A 2: 85,353,662 T88I probably benign Het
Parvb G T 15: 84,303,434 D248Y probably damaging Het
Pcdh11x A T X: 120,400,618 H586L possibly damaging Het
Phactr2 T C 10: 13,261,828 E120G probably damaging Het
Ppfibp2 A T 7: 107,742,964 Q775L probably damaging Het
Rcbtb1 A G 14: 59,229,994 Y427C probably damaging Het
Rftn2 A T 1: 55,211,192 C131* probably null Het
Rps6ka2 A G 17: 7,289,003 D474G probably benign Het
Rsbn1l T C 5: 20,951,736 E17G probably damaging Het
Ryr2 T C 13: 11,705,699 M2688V probably benign Het
Slc22a18 C A 7: 143,492,837 probably benign Het
Smarcc1 A G 9: 110,132,126 probably benign Het
Soat2 T C 15: 102,162,115 V451A probably damaging Het
Sptlc2 A T 12: 87,309,893 probably benign Het
Tada1 C T 1: 166,392,634 L308F probably damaging Het
Tango2 A T 16: 18,310,867 probably null Het
Tbc1d15 A T 10: 115,229,206 V158D probably damaging Het
Tcrg-V3 A G 13: 19,243,253 Y102C probably damaging Het
Tmx2 A T 2: 84,673,244 probably benign Het
Tpte T A 8: 22,305,858 I79K probably benign Het
Trav6-1 A G 14: 52,638,742 I40V probably benign Het
Ubash3a T C 17: 31,231,481 S377P possibly damaging Het
Vmn2r7 T C 3: 64,693,025 D575G probably damaging Het
Vps41 A G 13: 18,853,479 D704G possibly damaging Het
Vwa5a T C 9: 38,726,963 S261P possibly damaging Het
Zc3hav1 A G 6: 38,340,329 V112A probably damaging Het
Other mutations in Chrna7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01776:Chrna7 APN 7 63099519 missense probably benign 0.01
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
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
Posted On2015-04-16