Incidental Mutation 'IGL02040:Chrna6'
ID 184675
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chrna6
Ensembl Gene ENSMUSG00000031491
Gene Name cholinergic receptor, nicotinic, alpha polypeptide 6
Synonyms alpha6 nAChR, Acra6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL02040
Quality Score
Status
Chromosome 8
Chromosomal Location 27893240-27903972 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27897289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 196 (D196G)
Ref Sequence ENSEMBL: ENSMUSP00000033882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033882]
AlphaFold Q9R0W9
Predicted Effect probably damaging
Transcript: ENSMUST00000033882
AA Change: D196G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033882
Gene: ENSMUSG00000031491
AA Change: D196G

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 34 240 1.7e-78 PFAM
Pfam:Neur_chan_memb 247 483 1.2e-89 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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik T G 5: 3,630,405 (GRCm39) F107C probably damaging Het
4930590J08Rik T C 6: 91,895,091 (GRCm39) V262A probably benign Het
A830018L16Rik T A 1: 12,003,822 (GRCm39) probably benign Het
Adgrb1 T C 15: 74,413,424 (GRCm39) V536A possibly damaging Het
Ano6 T G 15: 95,853,825 (GRCm39) I667R probably benign Het
Ap3b1 T A 13: 94,545,353 (GRCm39) probably null Het
Azin2 G T 4: 128,844,451 (GRCm39) L37M possibly damaging Het
Caap1 A G 4: 94,438,667 (GRCm39) I174T probably damaging Het
Cacna1h A G 17: 25,616,585 (GRCm39) V46A probably benign Het
Col19a1 A G 1: 24,351,126 (GRCm39) probably null Het
Defb22 G T 2: 152,331,976 (GRCm39) T19K possibly damaging Het
Dhx36 T C 3: 62,408,436 (GRCm39) D134G probably benign Het
Dync1h1 A G 12: 110,603,558 (GRCm39) I2211V probably benign Het
Ecel1 A C 1: 87,082,645 (GRCm39) C23G probably benign Het
Elmod2 A G 8: 84,048,126 (GRCm39) V112A probably damaging Het
Enpp1 T C 10: 24,531,754 (GRCm39) K510E probably damaging Het
Erbb4 A T 1: 68,081,694 (GRCm39) S1113R probably damaging Het
Esf1 A T 2: 139,971,181 (GRCm39) D653E possibly damaging Het
Exd1 A G 2: 119,370,546 (GRCm39) V54A possibly damaging Het
Fam227b A T 2: 125,963,004 (GRCm39) probably benign Het
Fnbp1l A G 3: 122,364,602 (GRCm39) probably benign Het
Foxf1 A G 8: 121,812,084 (GRCm39) N316S probably damaging Het
Gpaa1 T C 15: 76,218,495 (GRCm39) V426A probably benign Het
Gpc2 A G 5: 138,274,844 (GRCm39) probably null Het
Hnrnpab A G 11: 51,492,622 (GRCm39) probably benign Het
Hsf4 T G 8: 106,002,299 (GRCm39) probably benign Het
Inpp4a G T 1: 37,435,166 (GRCm39) R179L probably damaging Het
Jakmip2 T A 18: 43,704,919 (GRCm39) M361L probably benign Het
Kif15 A C 9: 122,846,450 (GRCm39) Y117S probably damaging Het
Lnpep T C 17: 17,765,167 (GRCm39) H761R probably benign Het
Masp2 G T 4: 148,688,270 (GRCm39) C180F probably damaging Het
Mical2 A G 7: 111,910,613 (GRCm39) E261G probably damaging Het
Mtmr7 T C 8: 41,013,926 (GRCm39) I211V probably benign Het
Nsd2 T C 5: 34,024,915 (GRCm39) probably benign Het
Or4c121 A G 2: 89,023,907 (GRCm39) I157T probably benign Het
Or51q1c A G 7: 103,652,614 (GRCm39) N44S probably damaging Het
Or8d1b T C 9: 38,887,910 (GRCm39) probably benign Het
Or8j3c A G 2: 86,253,336 (GRCm39) I228T probably damaging Het
Oxct1 G A 15: 4,056,250 (GRCm39) probably benign Het
Pira13 A G 7: 3,824,516 (GRCm39) probably benign Het
Plbd2 C T 5: 120,625,507 (GRCm39) S430N probably damaging Het
Postn A G 3: 54,270,110 (GRCm39) K63R probably benign Het
Pramel19 G A 4: 101,798,331 (GRCm39) V101I possibly damaging Het
Proc A T 18: 32,267,913 (GRCm39) V75E probably benign Het
Ptprt T C 2: 162,079,992 (GRCm39) Y269C probably damaging Het
Rcc2 T C 4: 140,447,902 (GRCm39) V476A possibly damaging Het
Recql5 A G 11: 115,823,623 (GRCm39) V41A possibly damaging Het
Ros1 T A 10: 51,992,018 (GRCm39) I1402F probably damaging Het
Rpgrip1 C T 14: 52,358,476 (GRCm39) T194I possibly damaging Het
Scin T C 12: 40,119,452 (GRCm39) probably benign Het
Skint4 T C 4: 112,003,679 (GRCm39) probably benign Het
Sptan1 T A 2: 29,903,725 (GRCm39) S1545T probably benign Het
Tpra1 A T 6: 88,887,164 (GRCm39) H168L possibly damaging Het
Trim47 T C 11: 115,998,734 (GRCm39) E295G probably damaging Het
Ttc28 T A 5: 111,040,802 (GRCm39) C63* probably null Het
Usp45 G A 4: 21,830,433 (GRCm39) R696H probably benign Het
Zfyve27 G A 19: 42,167,830 (GRCm39) R124Q probably damaging Het
Other mutations in Chrna6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00476:Chrna6 APN 8 27,896,560 (GRCm39) missense probably damaging 1.00
IGL02067:Chrna6 APN 8 27,894,424 (GRCm39) missense probably damaging 1.00
IGL02674:Chrna6 APN 8 27,896,879 (GRCm39) missense probably benign 0.00
IGL03011:Chrna6 APN 8 27,903,682 (GRCm39) missense possibly damaging 0.48
R0087:Chrna6 UTSW 8 27,897,014 (GRCm39) missense probably damaging 1.00
R0421:Chrna6 UTSW 8 27,898,415 (GRCm39) missense probably null 0.98
R0786:Chrna6 UTSW 8 27,898,408 (GRCm39) missense probably benign 0.26
R1784:Chrna6 UTSW 8 27,896,812 (GRCm39) missense possibly damaging 0.60
R1834:Chrna6 UTSW 8 27,897,242 (GRCm39) missense probably benign 0.04
R2087:Chrna6 UTSW 8 27,897,155 (GRCm39) missense probably benign 0.00
R4545:Chrna6 UTSW 8 27,896,711 (GRCm39) missense probably benign
R4785:Chrna6 UTSW 8 27,897,134 (GRCm39) missense probably damaging 1.00
R5621:Chrna6 UTSW 8 27,897,068 (GRCm39) missense probably damaging 1.00
R6002:Chrna6 UTSW 8 27,896,774 (GRCm39) missense probably benign 0.03
R6834:Chrna6 UTSW 8 27,898,338 (GRCm39) splice site probably null
R6937:Chrna6 UTSW 8 27,897,055 (GRCm39) missense probably damaging 1.00
R6968:Chrna6 UTSW 8 27,896,683 (GRCm39) missense probably benign 0.01
R7303:Chrna6 UTSW 8 27,897,019 (GRCm39) nonsense probably null
R7319:Chrna6 UTSW 8 27,896,815 (GRCm39) missense possibly damaging 0.58
R7775:Chrna6 UTSW 8 27,897,392 (GRCm39) missense probably damaging 1.00
R7778:Chrna6 UTSW 8 27,897,392 (GRCm39) missense probably damaging 1.00
R7824:Chrna6 UTSW 8 27,897,392 (GRCm39) missense probably damaging 1.00
R7879:Chrna6 UTSW 8 27,897,109 (GRCm39) missense probably damaging 1.00
R8100:Chrna6 UTSW 8 27,903,844 (GRCm39) start gained probably benign
R8292:Chrna6 UTSW 8 27,896,754 (GRCm39) missense probably benign 0.05
R8696:Chrna6 UTSW 8 27,897,195 (GRCm39) nonsense probably null
R8754:Chrna6 UTSW 8 27,897,229 (GRCm39) missense probably damaging 1.00
R8939:Chrna6 UTSW 8 27,896,870 (GRCm39) missense probably benign 0.01
R9041:Chrna6 UTSW 8 27,896,923 (GRCm39) missense probably damaging 1.00
Z1177:Chrna6 UTSW 8 27,903,717 (GRCm39) missense probably benign 0.01
Posted On 2014-05-07