Mutagenetix > Incidental Mutation

Incidental Mutation 'R7778:Chrna6'

598998

Institutional Source

Beutler Lab

Gene Symbol

Chrna6

Ensembl Gene

ENSMUSG00000031491

Gene Name

cholinergic receptor, nicotinic, alpha polypeptide 6

Synonyms

alpha6 nAChR, Acra6

MMRRC Submission

045834-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R7778 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27893240-27903972 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27897392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 162 (I162V)

Ref Sequence

ENSEMBL: ENSMUSP00000033882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033882]

AlphaFold

Q9R0W9

Predicted Effect

probably damaging
Transcript: ENSMUST00000033882
AA Change: I162V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000033882
Gene: ENSMUSG00000031491
AA Change: I162V

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	34	240	1.7e-78	PFAM
Pfam:Neur_chan_memb	247	483	1.2e-89	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (60/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,569,855 (GRCm39)	S524P	possibly damaging	Het
Aplf	A	C	6: 87,635,184 (GRCm39)		probably null	Het
Asb5	A	C	8: 55,037,827 (GRCm39)	H173P		Het
Atp6v0a2	A	G	5: 124,779,443 (GRCm39)	E186G	probably damaging	Het
Bbs2	A	T	8: 94,816,388 (GRCm39)		probably null	Het
Chrm5	A	G	2: 112,310,301 (GRCm39)	S272P	probably benign	Het
Cldn6	T	A	17: 23,900,581 (GRCm39)	C182S	probably damaging	Het
Cysltr2	A	G	14: 73,267,203 (GRCm39)	I169T	probably benign	Het
Ddx11	T	C	17: 66,437,543 (GRCm39)		probably null	Het
Efhc1	A	T	1: 21,049,685 (GRCm39)	Y515F	probably damaging	Het
Elmo1	A	G	13: 20,773,812 (GRCm39)		probably null	Het
Ep300	T	C	15: 81,470,887 (GRCm39)	S20P	unknown	Het
Gfpt2	T	G	11: 49,715,268 (GRCm39)	I421R	probably damaging	Het
Gm14226	T	A	2: 154,866,630 (GRCm39)	C196S	possibly damaging	Het
Grm8	T	C	6: 27,363,671 (GRCm39)	R615G	possibly damaging	Het
Hic1	C	T	11: 75,057,042 (GRCm39)	V616M	possibly damaging	Het
Ing1	A	G	8: 11,611,814 (GRCm39)	E178G	probably benign	Het
Kansl3	A	T	1: 36,387,758 (GRCm39)	L530H	probably damaging	Het
Kcna5	A	T	6: 126,511,768 (GRCm39)	L120*	probably null	Het
Kcnt1	T	G	2: 25,791,901 (GRCm39)	I617S	probably benign	Het
Lama1	T	A	17: 68,111,468 (GRCm39)	S2240T		Het
Lcn2	T	C	2: 32,277,927 (GRCm39)	D55G	probably benign	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Matn2	A	T	15: 34,399,223 (GRCm39)	H370L	possibly damaging	Het
Mettl23	T	G	11: 116,740,096 (GRCm39)	V189G	probably benign	Het
Mpp4	G	A	1: 59,162,672 (GRCm39)	T543M	not run	Het
Odf4	A	T	11: 68,812,898 (GRCm39)	S253R	probably benign	Het
Or10d4	C	A	9: 39,580,534 (GRCm39)	F60L	possibly damaging	Het
Or11h23	G	T	14: 50,947,928 (GRCm39)	C47F	possibly damaging	Het
Or7d9	A	G	9: 20,193,708 (GRCm39)		probably benign	Het
Or8b36	T	A	9: 37,937,963 (GRCm39)	I287N	probably damaging	Het
Or8g21	T	A	9: 38,906,203 (GRCm39)	H176L	probably damaging	Het
Pcdha11	A	T	18: 37,145,733 (GRCm39)	Y608F	possibly damaging	Het
Pcdhga5	A	G	18: 37,828,578 (GRCm39)	D342G	probably damaging	Het
Pde6d	A	G	1: 86,471,250 (GRCm39)	S143P	probably damaging	Het
Plec	A	T	15: 76,061,135 (GRCm39)	I2934N	probably damaging	Het
Primpol	G	T	8: 47,039,459 (GRCm39)	P387Q	probably damaging	Het
Prkcd	C	T	14: 30,327,772 (GRCm39)		probably null	Het
Prph2	T	C	17: 47,221,732 (GRCm39)	L37S	possibly damaging	Het
Prrt4	A	G	6: 29,177,718 (GRCm39)	L17P	probably damaging	Het
Pycr3	T	C	15: 75,790,138 (GRCm39)	D171G	probably damaging	Het
Rapsn	A	G	2: 90,875,293 (GRCm39)	T359A	probably benign	Het
Setd6	A	T	8: 96,442,866 (GRCm39)	H101L	probably benign	Het
Sez6	T	C	11: 77,865,375 (GRCm39)	S671P	probably damaging	Het
Son	T	C	16: 91,453,416 (GRCm39)	L721S	probably damaging	Het
Spata31d1b	A	T	13: 59,865,047 (GRCm39)	R732W	possibly damaging	Het
Srd5a3	T	A	5: 76,302,618 (GRCm39)	F328I	probably damaging	Het
Tfap2b	G	A	1: 19,304,531 (GRCm39)	G447D	probably damaging	Het
Thoc3	A	C	13: 54,611,591 (GRCm39)	F232C	probably damaging	Het
Tmem69	A	G	4: 116,410,595 (GRCm39)	L125P	probably damaging	Het
Tnfsf13	C	T	11: 69,575,989 (GRCm39)	V33M	probably damaging	Het
Togaram2	T	A	17: 72,011,746 (GRCm39)	M476K	probably benign	Het
Tube1	A	G	10: 39,018,294 (GRCm39)	I124V	probably benign	Het
Uevld	A	T	7: 46,576,100 (GRCm39)	I462N	probably damaging	Het
Utrn	G	A	10: 12,362,354 (GRCm39)	R2660C	probably damaging	Het
Vcan	T	C	13: 89,836,773 (GRCm39)	T2924A	probably damaging	Het
Vmn2r120	T	C	17: 57,832,942 (GRCm39)	Y79C	probably damaging	Het
Vwa8	T	C	14: 79,275,587 (GRCm39)	V790A	probably benign	Het
Zfp874b	A	G	13: 67,622,093 (GRCm39)	F402L	probably benign	Het
Zfp936	A	G	7: 42,839,720 (GRCm39)	T396A	possibly damaging	Het
Zfp978	T	C	4: 147,469,760 (GRCm39)		probably null	Het

Other mutations in Chrna6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GATGTAGAAGGAGTAGGTTATGTCC -3'
(R):5'- AATCTTTGGCCCTGGTGACC -3'

Sequencing Primer
(F):5'- CACAGCAGTTGTACTTGATGTCATGC -3'
(R):5'- GGTGACCCACAGCAAAGCTAC -3'

Posted On

2019-11-26