Mutagenetix > Incidental Mutation

Incidental Mutation 'R7879:Chrna6'

608642

Institutional Source

Beutler Lab

Gene Symbol

Chrna6

Ensembl Gene

ENSMUSG00000031491

Gene Name

cholinergic receptor, nicotinic, alpha polypeptide 6

Synonyms

alpha6 nAChR, Acra6

MMRRC Submission

045931-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R7879 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27893240-27903972 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27897109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 256 (F256S)

Ref Sequence

ENSEMBL: ENSMUSP00000033882 (fasta)

Gene Model

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

AlphaFold

Q9R0W9

Predicted Effect

probably damaging
Transcript: ENSMUST00000033882
AA Change: F256S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033882
Gene: ENSMUSG00000031491
AA Change: F256S

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: 99.7%
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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	C	5: 146,439,662 (GRCm39)	I81T	probably benign	Het
Acnat2	G	A	4: 49,383,299 (GRCm39)	P85S	probably damaging	Het
Akr1c19	G	A	13: 4,286,223 (GRCm39)	V74M	probably damaging	Het
Alb	C	A	5: 90,620,507 (GRCm39)	T539K	probably benign	Het
B4galnt2	G	A	11: 95,760,223 (GRCm39)	T268I	possibly damaging	Het
Bcl7b	G	A	5: 135,205,986 (GRCm39)	E58K	possibly damaging	Het
Calr3	C	T	8: 73,178,487 (GRCm39)	S372N	unknown	Het
Cdcp3	T	A	7: 130,844,871 (GRCm39)	V588E	probably damaging	Het
Cdh20	A	T	1: 104,875,047 (GRCm39)		probably null	Het
Cdh20	A	C	1: 109,976,677 (GRCm39)	E114A	probably benign	Het
Cep70	A	G	9: 99,144,686 (GRCm39)	R74G	possibly damaging	Het
Cic	A	G	7: 24,984,551 (GRCm39)	T996A	probably benign	Het
Clstn2	A	G	9: 97,351,817 (GRCm39)	V536A	possibly damaging	Het
Csmd1	A	T	8: 16,441,820 (GRCm39)	M348K	probably benign	Het
Dnah11	A	C	12: 118,004,744 (GRCm39)	D2192E	probably damaging	Het
Dnhd1	A	G	7: 105,352,646 (GRCm39)	I2600V	probably benign	Het
Dock3	A	C	9: 106,785,700 (GRCm39)	S185A	probably benign	Het
Dock4	A	T	12: 40,780,083 (GRCm39)	D628V	possibly damaging	Het
Dzank1	A	T	2: 144,333,718 (GRCm39)	S371T	probably benign	Het
Fam83b	A	T	9: 76,399,737 (GRCm39)	N455K	possibly damaging	Het
Fcrlb	T	C	1: 170,736,365 (GRCm39)	Y137C	probably damaging	Het
Gtf2i	G	A	5: 134,295,471 (GRCm39)	T327M	possibly damaging	Het
Hspa5	T	A	2: 34,665,941 (GRCm39)	M595K	probably benign	Het
Htt	C	T	5: 34,981,252 (GRCm39)	A875V	probably benign	Het
Hvcn1	G	A	5: 122,376,701 (GRCm39)		probably null	Het
Igsf10	A	G	3: 59,238,145 (GRCm39)	S679P	probably damaging	Het
Itsn2	A	G	12: 4,751,265 (GRCm39)	H1285R	probably benign	Het
Kcnq4	T	C	4: 120,559,632 (GRCm39)	T523A	probably benign	Het
Kif6	T	A	17: 50,139,214 (GRCm39)	I562N	probably benign	Het
Klhl9	C	A	4: 88,638,575 (GRCm39)	W555C	probably damaging	Het
Krt78	T	C	15: 101,856,624 (GRCm39)	T423A	probably benign	Het
Mapk10	C	T	5: 103,111,362 (GRCm39)	V391I	probably benign	Het
Noa1	T	C	5: 77,445,044 (GRCm39)	M592V	probably benign	Het
Npy5r	A	G	8: 67,133,968 (GRCm39)	M275T	possibly damaging	Het
Nuak2	T	A	1: 132,259,695 (GRCm39)	V499E	probably benign	Het
Or4x6	A	T	2: 89,949,185 (GRCm39)	C252*	probably null	Het
Or6c213	T	C	10: 129,574,559 (GRCm39)	I76V	probably benign	Het
Otogl	T	C	10: 107,612,970 (GRCm39)	E2052G	probably benign	Het
Pard3b	T	A	1: 62,198,670 (GRCm39)	C253S	possibly damaging	Het
Pclo	T	C	5: 14,727,228 (GRCm39)	S2029P	unknown	Het
Plekhg3	A	G	12: 76,612,343 (GRCm39)	I401M	probably damaging	Het
Polg	A	T	7: 79,100,392 (GRCm39)	C1140S	probably benign	Het
Prl7c1	A	T	13: 27,962,817 (GRCm39)	L62H	probably damaging	Het
Psmf1	T	A	2: 151,576,163 (GRCm39)	E115V	probably benign	Het
Ptpn9	A	T	9: 56,964,010 (GRCm39)	N381I	possibly damaging	Het
Pzp	A	G	6: 128,465,979 (GRCm39)	S1234P	probably benign	Het
Qrich1	A	G	9: 108,436,485 (GRCm39)	T728A	possibly damaging	Het
Ralgps2	C	A	1: 156,656,636 (GRCm39)	A323S	probably benign	Het
Rimbp3	T	C	16: 17,028,910 (GRCm39)	V778A	possibly damaging	Het
Scn1a	A	T	2: 66,116,349 (GRCm39)	L430*	probably null	Het
Sema7a	A	T	9: 57,862,363 (GRCm39)	I189F	probably damaging	Het
Slc22a8	T	C	19: 8,571,386 (GRCm39)	I39T	probably benign	Het
Stap2	T	C	17: 56,309,023 (GRCm39)	T115A	probably benign	Het
Stmn4	A	G	14: 66,595,388 (GRCm39)	I138V	probably benign	Het
Suds3	C	T	5: 117,236,335 (GRCm39)		probably null	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tet1	A	C	10: 62,714,825 (GRCm39)	D323E	probably benign	Het
Tia1	A	G	6: 86,401,347 (GRCm39)	D140G	probably damaging	Het
Trio	C	T	15: 27,852,010 (GRCm39)	R827H	possibly damaging	Het
Ttn	A	G	2: 76,625,397 (GRCm39)		probably null	Het
Unc80	T	C	1: 66,549,866 (GRCm39)	V708A	probably benign	Het
Vmn1r194	A	T	13: 22,428,772 (GRCm39)	T130S	probably benign	Het
Wfikkn2	A	G	11: 94,129,755 (GRCm39)	C129R	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	probably damaging	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
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
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'- TGGACAGCGTGACAAAGATC -3'
(R):5'- AGGCAGAAATCGACCTTCTCATC -3'

Sequencing Primer
(F):5'- TCATGGTGAACAGTAGATACTCACC -3'
(R):5'- GCAGAAATCGACCTTCTCATCATTGG -3'

Posted On

2019-12-20