Incidental Mutation 'R0087:Chrna6'
ID 19955
Institutional Source Beutler Lab
Gene Symbol Chrna6
Ensembl Gene ENSMUSG00000031491
Gene Name cholinergic receptor, nicotinic, alpha polypeptide 6
Synonyms alpha6 nAChR, Acra6
MMRRC Submission 038374-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R0087 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 8
Chromosomal Location 27893240-27903972 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 27897014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 288 (V288M)
Ref Sequence ENSEMBL: ENSMUSP00000033882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033882]
AlphaFold Q9R0W9
Predicted Effect probably damaging
Transcript: ENSMUST00000033882
AA Change: V288M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033882
Gene: ENSMUSG00000031491
AA Change: V288M

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 34 240 1.7e-78 PFAM
Pfam:Neur_chan_memb 247 483 1.2e-89 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.5%
  • 20x: 82.3%
Validation Efficiency 86% (59/69)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 T A 19: 53,215,038 (GRCm39) L71Q probably damaging Het
Adgrv1 T A 13: 81,535,070 (GRCm39) I5732F probably damaging Het
Adss2 A T 1: 177,598,788 (GRCm39) V330E probably benign Het
Agps T A 2: 75,739,979 (GRCm39) Y488N probably damaging Het
Ap3s1 A T 18: 46,891,106 (GRCm39) R66S probably damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Atp2a2 C T 5: 122,599,024 (GRCm39) V593I probably benign Het
Col4a2 C T 8: 11,491,296 (GRCm39) L1232F probably benign Het
Dcaf1 A G 9: 106,740,288 (GRCm39) N1225D probably damaging Het
Degs1 A G 1: 182,106,875 (GRCm39) I128T probably benign Het
Dnaaf11 T C 15: 66,341,824 (GRCm39) T91A probably benign Het
Dnah5 A T 15: 28,350,759 (GRCm39) T2594S probably damaging Het
Dnah8 G T 17: 30,974,093 (GRCm39) R2826L probably damaging Het
Elf3 A G 1: 135,184,875 (GRCm39) Y104H probably damaging Het
Fam222b C A 11: 78,044,718 (GRCm39) T93N probably benign Het
Fbxw26 A G 9: 109,554,006 (GRCm39) I211T probably benign Het
Fcho2 T C 13: 98,871,594 (GRCm39) T541A probably benign Het
Flg2 T C 3: 93,109,738 (GRCm39) S589P unknown Het
Foxj3 T A 4: 119,483,597 (GRCm39) V589E unknown Het
Gria1 A G 11: 57,208,538 (GRCm39) Y742C probably damaging Het
Inpp5d T C 1: 87,642,860 (GRCm39) S672P probably damaging Het
Lrrc19 A C 4: 94,529,009 (GRCm39) F91C probably damaging Het
Mppe1 A G 18: 67,358,775 (GRCm39) *398R probably null Het
Mroh3 T C 1: 136,118,541 (GRCm39) I561V probably benign Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Nbea G T 3: 55,998,444 (GRCm39) T121K possibly damaging Het
Nbr1 A C 11: 101,455,519 (GRCm39) D91A probably benign Het
Ncam2 C A 16: 81,231,789 (GRCm39) N84K probably benign Het
Or4c35 T C 2: 89,808,475 (GRCm39) Y118H probably damaging Het
Or51ac3 A T 7: 103,213,569 (GRCm39) C306S probably benign Het
Or52h9 A G 7: 104,202,869 (GRCm39) I248V possibly damaging Het
Or52z13 A G 7: 103,246,928 (GRCm39) Y135C probably benign Het
Or6b6 A G 7: 106,571,323 (GRCm39) V76A probably benign Het
Pdgfrb A T 18: 61,194,585 (GRCm39) I121F probably damaging Het
Peak1 A T 9: 56,165,609 (GRCm39) I773N probably damaging Het
Pfkfb4 G T 9: 108,836,769 (GRCm39) V155F probably damaging Het
Pkm C T 9: 59,585,382 (GRCm39) R455* probably null Het
Plbd2 C A 5: 120,632,550 (GRCm39) E151* probably null Het
Pld5 G A 1: 175,812,025 (GRCm39) T353M probably damaging Het
Psme2b A T 11: 48,836,544 (GRCm39) D134E possibly damaging Het
Rida T A 15: 34,488,772 (GRCm39) D40V possibly damaging Het
Rnf126 A T 10: 79,595,068 (GRCm39) H265Q probably damaging Het
Rock2 C A 12: 16,978,967 (GRCm39) Q86K probably benign Het
Serpinb1b A T 13: 33,269,302 (GRCm39) T12S probably benign Het
Slco6c1 T A 1: 97,046,303 (GRCm39) Q277L probably benign Het
Spmap2 A T 10: 79,421,785 (GRCm39) Y144* probably null Het
Sptlc2 T A 12: 87,415,892 (GRCm39) H45L probably benign Het
Srsf4 A G 4: 131,627,641 (GRCm39) probably benign Het
Sspo A G 6: 48,454,719 (GRCm39) S2969G probably damaging Het
Steap1 C T 5: 5,786,664 (GRCm39) G258R probably damaging Het
Stk19 A T 17: 35,055,851 (GRCm39) M1K probably null Het
Stk-ps2 C A 1: 46,069,049 (GRCm39) noncoding transcript Het
Taf1c C T 8: 120,327,726 (GRCm39) R332H probably damaging Het
Thbs4 T A 13: 92,891,743 (GRCm39) T791S probably damaging Het
Tjap1 A G 17: 46,574,652 (GRCm39) L21P probably damaging Het
Tmem145 A G 7: 25,007,268 (GRCm39) Y148C probably damaging Het
Tmem267 T A 13: 120,070,810 (GRCm39) V155E probably benign Het
Tns1 T A 1: 73,956,076 (GRCm39) H549L possibly damaging Het
Tyro3 T G 2: 119,632,182 (GRCm39) I83S probably benign Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn1r53 A T 6: 90,200,413 (GRCm39) C304S probably benign Het
Vwf G A 6: 125,622,917 (GRCm39) M1761I probably benign Het
Zfp276 T C 8: 123,991,786 (GRCm39) Y445H probably damaging Het
Zfp407 A T 18: 84,578,536 (GRCm39) I859N probably damaging Het
Other mutations in Chrna6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00476:Chrna6 APN 8 27,896,560 (GRCm39) missense probably damaging 1.00
IGL02040:Chrna6 APN 8 27,897,289 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- CTGAAGGAAGATGGTCTTCACCCAC -3'
(R):5'- GACGCCTCTGGCTATAAGCATGAC -3'

Sequencing Primer
(F):5'- ACCCACTTGGGCATGGTATG -3'
(R):5'- GACATCAAGTACAACTGCTGTG -3'
Posted On 2013-04-11