Mutagenetix > Incidental Mutation

Incidental Mutation 'R6834:Chrna6'

534512

Institutional Source

Beutler Lab

Gene Symbol

Chrna6

Ensembl Gene

ENSMUSG00000031491

Gene Name

cholinergic receptor, nicotinic, alpha polypeptide 6

Synonyms

alpha6 nAChR, Acra6

MMRRC Submission

044943-MU

Accession Numbers

Essential gene?

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

Stock #

R6834 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27893240-27903972 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 27898338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000033882 (fasta)

Gene Model

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

AlphaFold

Q9R0W9

Predicted Effect

probably null
Transcript: ENSMUST00000033882

SMART Domains

Protein: ENSMUSP00000033882
Gene: ENSMUSG00000031491

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

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
Abca13	T	A	11: 9,225,110 (GRCm39)	W530R	possibly damaging	Het
Aco1	A	G	4: 40,164,747 (GRCm39)	K79R	probably benign	Het
Adam15	C	T	3: 89,247,390 (GRCm39)	G426R	probably damaging	Het
Angptl1	A	T	1: 156,672,263 (GRCm39)	I30L	probably benign	Het
Ankrd35	A	G	3: 96,590,599 (GRCm39)	E295G	possibly damaging	Het
Ap5m1	T	A	14: 49,311,194 (GRCm39)	V88E	probably damaging	Het
Astn1	A	T	1: 158,491,692 (GRCm39)	Q47L	probably benign	Het
Atf6b	T	C	17: 34,868,131 (GRCm39)	S135P	probably damaging	Het
AU018091	T	A	7: 3,207,795 (GRCm39)	I589F	probably benign	Het
Cdin1	T	C	2: 115,505,265 (GRCm39)	S179P	probably benign	Het
Cenpf	T	C	1: 189,391,643 (GRCm39)	K730E	probably damaging	Het
Dmxl1	A	T	18: 50,088,890 (GRCm39)	I2790F	probably damaging	Het
Ell	A	G	8: 71,031,784 (GRCm39)	D116G	probably damaging	Het
Eml5	A	T	12: 98,853,283 (GRCm39)	H105Q	probably damaging	Het
Epb41l2	T	A	10: 25,369,502 (GRCm39)	V23D	possibly damaging	Het
Gatad2b	T	A	3: 90,255,950 (GRCm39)	S139T	probably benign	Het
Glb1l	A	G	1: 75,178,397 (GRCm39)	V347A	possibly damaging	Het
Gm4846	A	T	1: 166,322,147 (GRCm39)	I140N	possibly damaging	Het
Gng11	A	G	6: 4,008,068 (GRCm39)	I44V	probably benign	Het
Hsd17b8	T	C	17: 34,246,191 (GRCm39)	S161G	probably damaging	Het
Hsp90ab1	T	C	17: 45,881,393 (GRCm39)	I250V	probably benign	Het
Igkv4-79	A	G	6: 69,020,256 (GRCm39)	S20P	probably damaging	Het
Il11ra1	A	G	4: 41,765,454 (GRCm39)	H183R	probably benign	Het
Kcnip3	A	T	2: 127,300,278 (GRCm39)	F252I	probably damaging	Het
Klk12	T	C	7: 43,422,772 (GRCm39)	V233A	possibly damaging	Het
Klk1b11	T	C	7: 43,428,336 (GRCm39)	I242T	probably damaging	Het
Lama3	G	A	18: 12,624,605 (GRCm39)	C1450Y	probably damaging	Het
Lmod2	A	T	6: 24,597,782 (GRCm39)		probably benign	Het
Loxhd1	T	A	18: 77,529,222 (GRCm39)	V1089E	probably damaging	Het
Lrba	C	T	3: 86,257,593 (GRCm39)	P1286S	probably benign	Het
Lrrc41	T	C	4: 115,953,726 (GRCm39)	V804A	possibly damaging	Het
Lrrc8a	T	A	2: 30,145,659 (GRCm39)	S158T	possibly damaging	Het
Mcm3	A	T	1: 20,880,320 (GRCm39)	M504K	possibly damaging	Het
Med24	A	T	11: 98,595,850 (GRCm39)		probably null	Het
Mrgprx1	T	C	7: 47,671,385 (GRCm39)	S121G	probably damaging	Het
Mvb12a	G	A	8: 71,997,896 (GRCm39)	M103I	probably benign	Het
Or4k15c	A	G	14: 50,321,685 (GRCm39)	V151A	probably damaging	Het
Or4k2	T	C	14: 50,423,940 (GRCm39)	I245V	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pacsin3	T	A	2: 91,093,180 (GRCm39)	M224K	probably damaging	Het
Pam	T	A	1: 97,765,717 (GRCm39)	I771F	probably damaging	Het
Pamr1	C	T	2: 102,445,276 (GRCm39)	R270C	probably damaging	Het
Pcdhgb8	G	T	18: 37,895,142 (GRCm39)	A71S	probably benign	Het
Poc1b	C	T	10: 99,028,666 (GRCm39)	A336V	probably benign	Het
Prss39	G	T	1: 34,537,697 (GRCm39)	V54F	possibly damaging	Het
Ptar1	A	G	19: 23,695,288 (GRCm39)	T252A	probably benign	Het
Ptprz1	A	G	6: 22,999,632 (GRCm39)	D574G	probably benign	Het
Rnf40	G	A	7: 127,195,578 (GRCm39)	D635N	probably benign	Het
Scn1a	T	A	2: 66,158,086 (GRCm39)	Q429L	probably damaging	Het
Sf1	G	T	19: 6,424,127 (GRCm39)	G386C	probably damaging	Het
Shank2	A	T	7: 143,963,631 (GRCm39)	Y623F	probably damaging	Het
Slc9a5	G	T	8: 106,091,316 (GRCm39)	A699S	probably benign	Het
Sox9	A	T	11: 112,674,826 (GRCm39)	Q208L	probably benign	Het
Synpo2l	A	T	14: 20,710,702 (GRCm39)	D865E	probably damaging	Het
Szt2	A	G	4: 118,245,522 (GRCm39)	S1097P	probably benign	Het
Tmc1	C	A	19: 20,772,974 (GRCm39)	E676*	probably null	Het
Ubr3	T	C	2: 69,830,825 (GRCm39)	I158T	possibly damaging	Het
Ush2a	T	C	1: 188,088,989 (GRCm39)	Y315H	probably damaging	Het
Vmn1r85	T	C	7: 12,818,571 (GRCm39)	D191G	probably damaging	Het
Vmn2r-ps158	G	C	7: 42,673,004 (GRCm39)	A143P	probably damaging	Het
Zfp358	A	G	8: 3,545,613 (GRCm39)	D92G	probably benign	Het
Zfp735	G	A	11: 73,601,434 (GRCm39)	G126D	probably damaging	Het
Zpld2	A	C	4: 133,920,476 (GRCm39)	V563G	possibly 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
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'- GTCACCAGGGCCAAAGATTT -3'
(R):5'- GCTAAAGAACAAATTTAACAACTGCT -3'

Sequencing Primer
(F):5'- GGATGGCCTAGTCAGTCATCAAC -3'
(R):5'- TGCTAAAACAAAGTAAAACTACCAGC -3'

Posted On

2018-09-12