Incidental Mutation 'IGL01617:Chrna5'
ID92426
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chrna5
Ensembl Gene ENSMUSG00000035594
Gene Namecholinergic receptor, nicotinic, alpha polypeptide 5
SynonymsAcra-5, Acra5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.174) question?
Stock #IGL01617
Quality Score
Status
Chromosome9
Chromosomal Location54980880-55007779 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 55005013 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 262 (M262V)
Ref Sequence ENSEMBL: ENSMUSP00000149366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093844] [ENSMUST00000213960] [ENSMUST00000217408]
Predicted Effect possibly damaging
Transcript: ENSMUST00000093844
AA Change: M337V

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000091365
Gene: ENSMUSG00000035594
AA Change: M337V

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 18 221 4.9e-72 PFAM
Pfam:Neur_chan_memb 228 352 1.9e-51 PFAM
Pfam:Neur_chan_memb 338 417 1.2e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213960
AA Change: M366V

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000217408
AA Change: M262V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be heteropentamers composed of separate but similar subunits. Defects in this gene have been linked to susceptibility to lung cancer type 2 (LNCR2).[provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are less sensitive to nicotine-induced seizures than wild-type controls and exhibit a significantly shorter latency time to seizure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,115,150 I160F possibly damaging Het
BC037034 A T 5: 138,262,216 L47Q probably damaging Het
Cacna1d C T 14: 30,102,371 A1030T probably damaging Het
Ceacam13 A T 7: 18,011,383 D126V possibly damaging Het
Cep68 G T 11: 20,239,510 Q501K probably benign Het
Cfhr1 A T 1: 139,553,679 C154* probably null Het
Chd3 A G 11: 69,358,234 probably benign Het
Csrnp2 T C 15: 100,484,643 Y172C probably benign Het
Dzip1 G T 14: 118,881,065 P752Q probably benign Het
Frem1 G A 4: 82,936,139 T1630I probably benign Het
Gabrr1 G A 4: 33,162,634 S400N probably benign Het
Hmcn1 C T 1: 150,672,032 A2723T probably benign Het
Htt A G 5: 34,876,755 H1895R possibly damaging Het
Kif21a T C 15: 90,995,637 probably benign Het
Mitf A G 6: 97,996,428 I241V probably benign Het
Mterf1b A T 5: 4,196,503 D48V probably benign Het
Nmbr G T 10: 14,770,429 R349M probably benign Het
Pik3r4 T C 9: 105,654,965 S579P probably benign Het
Polr2i T C 7: 30,232,392 F16S possibly damaging Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Rgs11 A G 17: 26,208,250 H385R probably damaging Het
Rufy4 G A 1: 74,129,354 G99R probably damaging Het
Slc29a1 A G 17: 45,589,449 F185S probably benign Het
Spag17 G A 3: 100,109,508 V2200I possibly damaging Het
Ttc7b G T 12: 100,385,956 A414D possibly damaging Het
Ugt2b37 A T 5: 87,251,879 W257R probably damaging Het
Ythdc2 A G 18: 44,841,415 I381M possibly damaging Het
Other mutations in Chrna5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01407:Chrna5 APN 9 55004399 missense possibly damaging 0.61
IGL01503:Chrna5 APN 9 54998171 intron probably benign
IGL01935:Chrna5 APN 9 55004843 missense probably benign 0.01
IGL02613:Chrna5 APN 9 55006421 missense probably damaging 0.99
IGL03248:Chrna5 APN 9 55004639 missense probably damaging 1.00
IGL03412:Chrna5 APN 9 55004435 missense probably damaging 1.00
R0712:Chrna5 UTSW 9 55004363 missense probably damaging 1.00
R1619:Chrna5 UTSW 9 55004365 missense probably benign 0.00
R1698:Chrna5 UTSW 9 55004642 missense probably damaging 1.00
R1789:Chrna5 UTSW 9 55004651 missense possibly damaging 0.94
R1800:Chrna5 UTSW 9 55004875 missense probably damaging 0.99
R4028:Chrna5 UTSW 9 54998086 missense probably damaging 1.00
R4030:Chrna5 UTSW 9 54998086 missense probably damaging 1.00
R4031:Chrna5 UTSW 9 54998086 missense probably damaging 1.00
R4201:Chrna5 UTSW 9 54998075 missense probably benign 0.00
R4792:Chrna5 UTSW 9 55004701 missense probably damaging 1.00
R5196:Chrna5 UTSW 9 55006519 missense possibly damaging 0.91
R5718:Chrna5 UTSW 9 54998105 missense probably benign 0.00
R5779:Chrna5 UTSW 9 54998104 missense probably benign 0.35
R6254:Chrna5 UTSW 9 55006456 missense probably benign 0.00
R6492:Chrna5 UTSW 9 54998063 missense probably benign 0.11
R6887:Chrna5 UTSW 9 55005133 missense probably benign 0.00
R6986:Chrna5 UTSW 9 55006457 missense possibly damaging 0.83
R7056:Chrna5 UTSW 9 54981701 intron probably benign
R7222:Chrna5 UTSW 9 54998063 missense probably benign 0.11
R7384:Chrna5 UTSW 9 55004833 missense probably damaging 1.00
R7572:Chrna5 UTSW 9 55006465 missense probably damaging 1.00
R7653:Chrna5 UTSW 9 55002434 missense probably benign
R7846:Chrna5 UTSW 9 55005107 missense probably benign 0.38
R8808:Chrna5 UTSW 9 54998064 missense probably benign 0.20
R8901:Chrna5 UTSW 9 55004453 missense probably damaging 1.00
Z1176:Chrna5 UTSW 9 55004482 missense probably damaging 1.00
Z1177:Chrna5 UTSW 9 55004956 missense possibly damaging 0.55
Posted On2013-12-09