Incidental Mutation 'IGL02067:Chrna6'
ID185700
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chrna6
Ensembl Gene ENSMUSG00000031491
Gene Namecholinergic receptor, nicotinic, alpha polypeptide 6
SynonymsAcra6, alpha6 nAChR
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL02067
Quality Score
Status
Chromosome8
Chromosomal Location27403212-27413944 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 27404396 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 494 (S494P)
Ref Sequence ENSEMBL: ENSMUSP00000033882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033882] [ENSMUST00000060943]
Predicted Effect probably damaging
Transcript: ENSMUST00000033882
AA Change: S494P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033882
Gene: ENSMUSG00000031491
AA Change: S494P

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 34 240 1.7e-78 PFAM
Pfam:Neur_chan_memb 247 483 1.2e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000060943
SMART Domains Protein: ENSMUSP00000052297
Gene: ENSMUSG00000031492

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 35 239 2.3e-75 PFAM
Pfam:Neur_chan_memb 246 452 1.9e-65 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha subunit of neuronal nicotinic acetylcholine receptors. These receptors consist of five subunits and function as ion channels involved in neurotransmission. The encoded protein is a subunit of neuronal nicotinic acetylcholine receptors that mediate dopaminergic neurotransmission and are activated by acetylcholine and exogenous nicotine. Alternatively spliced transcript variants have been observed for this gene. Single nucleotide polymorphisms in this gene have been associated with both nicotine and alcohol dependence. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homzygous mutant animals have decreased numbers of high affinity binding sites for [3H]nicotine, [3H]epibaditine, and [3H]cytisine in the terminal region of the retinal ganglion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik C T 5: 107,543,950 R36* probably null Het
Aplp2 T A 9: 31,150,895 K688N probably damaging Het
Arhgef28 G T 13: 98,077,317 Q13K probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Clcc1 T A 3: 108,668,721 L195H probably damaging Het
Coq3 A G 4: 21,900,397 E208G probably benign Het
Dock4 T G 12: 40,834,385 S1684A probably damaging Het
Duoxa2 G A 2: 122,300,591 V78M possibly damaging Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fam8a1 G T 13: 46,669,848 R88L possibly damaging Het
Ganc A G 2: 120,406,304 D23G probably benign Het
Gm14305 A T 2: 176,719,317 E53D probably damaging Het
Ing5 T A 1: 93,811,926 L58Q probably damaging Het
Klrb1-ps1 A G 6: 129,129,388 D164G probably damaging Het
Lama2 G A 10: 27,176,796 T1389M probably benign Het
Lrp6 A T 6: 134,480,396 I815K probably damaging Het
Nek10 A G 14: 14,861,639 D565G probably benign Het
Opa1 A G 16: 29,616,655 E641G probably damaging Het
Rbm44 T C 1: 91,152,845 S252P probably damaging Het
Sbf1 A G 15: 89,289,044 V1810A probably damaging Het
Sh3pxd2b T C 11: 32,423,095 V754A probably benign Het
Slc27a6 A G 18: 58,612,191 T566A probably benign Het
Stxbp6 C T 12: 44,861,298 R179Q probably damaging Het
Supt6 T A 11: 78,231,157 Y223F probably benign Het
Tdrd6 T C 17: 43,628,209 I649M probably damaging Het
Tecrl A T 5: 83,284,275 C258S probably benign Het
Zfp128 T C 7: 12,885,050 I74T possibly damaging Het
Other mutations in Chrna6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00476:Chrna6 APN 8 27406532 missense probably damaging 1.00
IGL02040:Chrna6 APN 8 27407261 missense probably damaging 0.99
IGL02674:Chrna6 APN 8 27406851 missense probably benign 0.00
IGL03011:Chrna6 APN 8 27413654 missense possibly damaging 0.48
R0087:Chrna6 UTSW 8 27406986 missense probably damaging 1.00
R0421:Chrna6 UTSW 8 27408387 missense probably null 0.98
R0786:Chrna6 UTSW 8 27408380 missense probably benign 0.26
R1784:Chrna6 UTSW 8 27406784 missense possibly damaging 0.60
R1834:Chrna6 UTSW 8 27407214 missense probably benign 0.04
R2087:Chrna6 UTSW 8 27407127 missense probably benign 0.00
R4545:Chrna6 UTSW 8 27406683 missense probably benign
R4785:Chrna6 UTSW 8 27407106 missense probably damaging 1.00
R5621:Chrna6 UTSW 8 27407040 missense probably damaging 1.00
R6002:Chrna6 UTSW 8 27406746 missense probably benign 0.03
R6834:Chrna6 UTSW 8 27408310 splice site probably null
R6937:Chrna6 UTSW 8 27407027 missense probably damaging 1.00
R6968:Chrna6 UTSW 8 27406655 missense probably benign 0.01
R7303:Chrna6 UTSW 8 27406991 nonsense probably null
R7319:Chrna6 UTSW 8 27406787 missense possibly damaging 0.58
R7775:Chrna6 UTSW 8 27407364 missense probably damaging 1.00
R7778:Chrna6 UTSW 8 27407364 missense probably damaging 1.00
R7824:Chrna6 UTSW 8 27407364 missense probably damaging 1.00
R7879:Chrna6 UTSW 8 27407081 missense probably damaging 1.00
R8100:Chrna6 UTSW 8 27413816 start gained probably benign
R8292:Chrna6 UTSW 8 27406726 missense probably benign 0.05
Z1177:Chrna6 UTSW 8 27413689 missense probably benign 0.01
Posted On2014-05-07