Mutagenetix > Incidental Mutation

Incidental Mutation 'R7303:Chrna6'

567108

Institutional Source

Beutler Lab

Gene Symbol

Chrna6

Ensembl Gene

ENSMUSG00000031491

Gene Name

cholinergic receptor, nicotinic, alpha polypeptide 6

Synonyms

alpha6 nAChR, Acra6

MMRRC Submission

045364-MU

Accession Numbers

Essential gene?

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

Stock #

R7303 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27893240-27903972 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 27897019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 286 (L286*)

Ref Sequence

ENSEMBL: ENSMUSP00000033882 (fasta)

Gene Model

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

AlphaFold

Q9R0W9

Predicted Effect

probably null
Transcript: ENSMUST00000033882
AA Change: L286*

SMART Domains

Protein: ENSMUSP00000033882
Gene: ENSMUSG00000031491
AA Change: L286*

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: 99.9%
10x: 99.7%
20x: 99.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	G	17: 24,617,495 (GRCm39)	L1064R	possibly damaging	Het
Abca7	A	T	10: 79,850,822 (GRCm39)	D2051V	probably benign	Het
Abcb5	T	A	12: 118,875,295 (GRCm39)	I626F	probably damaging	Het
Abcg5	A	G	17: 84,977,774 (GRCm39)	S333P	probably damaging	Het
Abl2	T	C	1: 156,468,820 (GRCm39)	S695P	probably benign	Het
Aen	C	T	7: 78,552,204 (GRCm39)	P55S	possibly damaging	Het
Afg3l1	G	T	8: 124,228,008 (GRCm39)	A598S	probably damaging	Het
Aldh16a1	A	T	7: 44,797,328 (GRCm39)	L160Q	probably damaging	Het
Ang	A	T	14: 51,338,973 (GRCm39)	H38L	probably benign	Het
Ankar	A	T	1: 72,698,192 (GRCm39)	I954N	probably benign	Het
Aox1	A	T	1: 58,373,924 (GRCm39)	K862*	probably null	Het
Brme1	G	C	8: 84,887,862 (GRCm39)	G71A	probably benign	Het
Cad	T	C	5: 31,217,557 (GRCm39)		probably null	Het
Cc2d2b	A	T	19: 40,797,438 (GRCm39)	Y740F	unknown	Het
Ccdc182	T	C	11: 88,185,042 (GRCm39)	Y41H	probably benign	Het
Chd9	A	G	8: 91,778,532 (GRCm39)	R2848G	unknown	Het
Cimap1d	G	A	10: 79,478,525 (GRCm39)	P80S	probably benign	Het
Cracr2b	A	G	7: 141,043,115 (GRCm39)		probably benign	Het
Fam184b	C	T	5: 45,699,568 (GRCm39)		probably null	Het
Flnc	T	C	6: 29,460,849 (GRCm39)	S2647P	probably benign	Het
Ftsj3	T	C	11: 106,145,506 (GRCm39)	D76G	probably damaging	Het
Fxyd1	T	A	7: 30,753,743 (GRCm39)	M17L	probably benign	Het
Golim4	G	A	3: 75,785,360 (GRCm39)	S677L	probably damaging	Het
Gpr149	A	G	3: 62,502,491 (GRCm39)	V455A	possibly damaging	Het
H2-Q1	C	A	17: 35,540,312 (GRCm39)	S132R	probably benign	Het
H2-Q7	A	G	17: 35,659,037 (GRCm39)	I163V	probably benign	Het
Herc1	A	T	9: 66,358,098 (GRCm39)	D2393V	possibly damaging	Het
Hmgb2	A	G	8: 57,965,762 (GRCm39)	K44E	possibly damaging	Het
Itgad	A	G	7: 127,789,351 (GRCm39)	D605G	probably benign	Het
Kbtbd12	G	T	6: 88,591,094 (GRCm39)	F16L	unknown	Het
Klhl23	T	C	2: 69,655,045 (GRCm39)	I305T	probably benign	Het
Lrguk	A	T	6: 34,006,411 (GRCm39)	N7I	probably benign	Het
Lrp5	A	G	19: 3,641,774 (GRCm39)	L1396P	probably damaging	Het
Mapkapk5	T	C	5: 121,678,637 (GRCm39)	E13G	probably benign	Het
Mark3	T	C	12: 111,621,970 (GRCm39)	V704A	probably damaging	Het
Mast2	A	G	4: 116,165,508 (GRCm39)	S1303P	possibly damaging	Het
Mcm2	T	C	6: 88,864,928 (GRCm39)	D516G	probably damaging	Het
Mon2	A	T	10: 122,874,364 (GRCm39)		probably null	Het
Mrc2	T	A	11: 105,216,629 (GRCm39)	N139K	probably damaging	Het
Myh14	C	T	7: 44,261,125 (GRCm39)	E1789K	probably damaging	Het
Myh7b	T	A	2: 155,460,660 (GRCm39)	L271Q	probably damaging	Het
Oog2	A	T	4: 143,921,912 (GRCm39)	H274L	probably benign	Het
Oosp1	A	C	19: 11,645,774 (GRCm39)	S121R	probably benign	Het
Or13a28	T	C	7: 140,218,267 (GRCm39)	S218P	probably damaging	Het
Or8k3b	A	G	2: 86,521,166 (GRCm39)	V51A	probably benign	Het
Pepd	T	C	7: 34,721,197 (GRCm39)		probably null	Het
Pik3c2a	A	C	7: 116,005,178 (GRCm39)	S363R	probably benign	Het
Polr2b	T	C	5: 77,468,868 (GRCm39)	Y215H	probably benign	Het
Ppcdc	A	T	9: 57,321,958 (GRCm39)	V194E	probably benign	Het
Rabgap1l	A	C	1: 160,509,667 (GRCm39)	I470S	probably benign	Het
Scgb1b3	G	A	7: 31,075,383 (GRCm39)	A78T	probably benign	Het
Slc9a5	T	A	8: 106,083,345 (GRCm39)	L368Q	probably damaging	Het
Spef2	T	A	15: 9,647,576 (GRCm39)	I944F	possibly damaging	Het
Syne1	T	A	10: 5,206,805 (GRCm39)	H3461L	probably benign	Het
Tas2r134	A	G	2: 51,518,145 (GRCm39)	Y208C	probably benign	Het
Tasor	A	G	14: 27,193,809 (GRCm39)	E1003G	probably damaging	Het
Tm9sf3	G	A	19: 41,227,198 (GRCm39)	S291F	probably damaging	Het
Tra2a	G	A	6: 49,227,921 (GRCm39)	T69I	unknown	Het
Ube2q1	T	A	3: 89,683,898 (GRCm39)	L171Q	possibly damaging	Het
Ufd1	A	G	16: 18,636,715 (GRCm39)	T78A	probably damaging	Het
Vmn1r13	T	C	6: 57,187,587 (GRCm39)	S249P	probably damaging	Het
Wdr91	G	A	6: 34,861,258 (GRCm39)	S648L	probably benign	Het
Zfp51	T	A	17: 21,684,058 (GRCm39)	N224K	probably benign	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
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'- CCTCATCATCAGAATCGAGGGG -3'
(R):5'- CTGCTGTGAAGAGATTTACACG -3'

Sequencing Primer
(F):5'- TCATCAGAATCGAGGGGAAGGC -3'
(R):5'- TGAAGAGATTTACACGGACATAACC -3'

Posted On

2019-06-26