Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02043:Chrna1'

184836

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chrna1

Ensembl Gene

ENSMUSG00000027107

Gene Name

cholinergic receptor nicotinic alpha 1 subunit

Synonyms

Acra, Achr-1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02043

Quality Score

Status

Chromosome

Chromosomal Location

73393625-73410682 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 73398450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 330 (E330K)

Ref Sequence

ENSEMBL: ENSMUSP00000028515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028515]

AlphaFold

P04756

PDB Structure

Crystal structure of the extracellular domain of the nicotinic acetylcholine receptor 1 subunit bound to alpha-bungarotoxin at 1.9 A resolution [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000028515
AA Change: E330K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000028515
Gene: ENSMUSG00000027107
AA Change: E330K

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Neur_chan_LBD	24	231	1.5e-72	PFAM
Pfam:Neur_chan_memb	238	446	1.1e-67	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes an alpha subunit of the muscle-derived nicotinic acetylcholine receptor, a pentameric neurotransmitter receptor and member of the ligand-gated ion channel superfamily. The alpha subunit plays a role in substrate binding and channel gating. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, kyphosis, carpotosis, absent miniature and nerve-evoked endplant potential, increased motor neuron number, and abnormal neuromuscular synapse. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp1b2	T	C	11: 69,496,102 (GRCm39)	T33A	probably benign	Het
Brd2	A	T	17: 34,331,590 (GRCm39)		probably benign	Het
Carmil1	T	C	13: 24,208,299 (GRCm39)		probably benign	Het
Cdh9	A	T	15: 16,856,318 (GRCm39)	D786V	probably damaging	Het
Cep128	A	C	12: 91,233,504 (GRCm39)		probably benign	Het
Cep85	T	C	4: 133,883,038 (GRCm39)	T284A	probably benign	Het
Clec2l	T	C	6: 38,653,785 (GRCm39)	Y104H	probably damaging	Het
Clybl	G	T	14: 122,616,664 (GRCm39)	K226N	probably damaging	Het
Cmip	T	A	8: 118,172,067 (GRCm39)	D467E	probably benign	Het
Cpne3	A	T	4: 19,543,340 (GRCm39)		probably null	Het
Crisp4	A	G	1: 18,204,324 (GRCm39)	V46A	probably damaging	Het
Csnk2a1	T	C	2: 152,116,070 (GRCm39)	Y261H	probably damaging	Het
Cul5	C	A	9: 53,569,973 (GRCm39)	G86V	probably benign	Het
Czib	T	G	4: 107,752,065 (GRCm39)		probably benign	Het
Depdc7	T	C	2: 104,560,626 (GRCm39)	T123A	probably benign	Het
Edem2	T	C	2: 155,547,661 (GRCm39)	T384A	probably damaging	Het
F8	C	T	X: 74,376,247 (GRCm39)	M377I	probably benign	Het
Fan1	T	A	7: 64,021,367 (GRCm39)		probably null	Het
Fez2	T	C	17: 78,689,051 (GRCm39)	D366G	probably damaging	Het
Gm4841	A	C	18: 60,404,037 (GRCm39)	S19A	probably benign	Het
Gm4862	T	A	3: 138,834,396 (GRCm39)		noncoding transcript	Het
Hk3	T	A	13: 55,162,908 (GRCm39)	Q44L	probably damaging	Het
Irgm1	C	A	11: 48,757,642 (GRCm39)	L56F	probably damaging	Het
Ldlr	A	G	9: 21,644,795 (GRCm39)	T108A	probably benign	Het
Lgr4	T	A	2: 109,841,635 (GRCm39)	M516K	probably damaging	Het
Lrp1b	T	C	2: 40,587,537 (GRCm39)	N3906S	probably null	Het
Lrrtm4	A	G	6: 79,998,845 (GRCm39)	N86D	possibly damaging	Het
Map3k2	A	G	18: 32,340,587 (GRCm39)	D198G	probably damaging	Het
Mapkapk3	C	T	9: 107,139,621 (GRCm39)		probably null	Het
Mvp	A	T	7: 126,592,790 (GRCm39)	Y374N	probably damaging	Het
Myo3a	T	C	2: 22,404,776 (GRCm39)	S711P	probably benign	Het
Myom3	A	G	4: 135,497,986 (GRCm39)	K189E	probably damaging	Het
Naip1	T	A	13: 100,563,304 (GRCm39)	K620N	probably benign	Het
Nlrp10	T	C	7: 108,524,709 (GRCm39)	E257G	probably damaging	Het
Nptn	T	G	9: 58,548,012 (GRCm39)	M139R	possibly damaging	Het
Nrk	T	G	X: 137,889,544 (GRCm39)	M1105R	possibly damaging	Het
Or10a3n	A	T	7: 108,493,046 (GRCm39)	C189*	probably null	Het
Or10d4	T	G	9: 39,580,374 (GRCm39)	V7G	probably damaging	Het
Or1q1	T	A	2: 36,887,477 (GRCm39)	Y218*	probably null	Het
Pcdhb16	A	G	18: 37,612,248 (GRCm39)	T403A	probably benign	Het
Pcyt1b	A	G	X: 92,745,722 (GRCm39)	E50G	possibly damaging	Het
Pigg	C	T	5: 108,492,190 (GRCm39)	T892I	probably damaging	Het
Ppig	T	G	2: 69,566,327 (GRCm39)		probably null	Het
Prr12	A	G	7: 44,699,429 (GRCm39)		probably benign	Het
Slc5a5	G	T	8: 71,345,073 (GRCm39)	A78E	possibly damaging	Het
Slc7a2	T	G	8: 41,364,095 (GRCm39)	M436R	probably benign	Het
Sp7	T	A	15: 102,267,690 (GRCm39)	M39L	probably benign	Het
Spag8	T	A	4: 43,653,134 (GRCm39)		probably benign	Het
Svep1	A	G	4: 58,068,556 (GRCm39)	S3077P	probably benign	Het
Tmem30a	A	T	9: 79,681,371 (GRCm39)		probably benign	Het
Tmem63a	C	T	1: 180,800,353 (GRCm39)	T714I	probably benign	Het
Trank1	T	C	9: 111,193,028 (GRCm39)	L535P	probably damaging	Het
Tuba8	A	C	6: 121,197,470 (GRCm39)	N44T	probably benign	Het
Wnk1	A	G	6: 119,926,039 (GRCm39)		probably benign	Het
Zfp654	A	T	16: 64,605,391 (GRCm39)	I396K	probably benign	Het

Other mutations in Chrna1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Chrna1	APN	2	73,400,986 (GRCm39)	missense	probably benign
IGL02553:Chrna1	APN	2	73,397,206 (GRCm39)	missense	possibly damaging	0.79
IGL02663:Chrna1	APN	2	73,404,660 (GRCm39)	splice site	probably benign
IGL02799:Chrna1	APN	2	73,404,985 (GRCm39)	splice site	probably benign
IGL03369:Chrna1	APN	2	73,400,789 (GRCm39)	missense	probably benign	0.02
R0113:Chrna1	UTSW	2	73,397,180 (GRCm39)	missense	possibly damaging	0.88
R0513:Chrna1	UTSW	2	73,398,426 (GRCm39)	splice site	probably benign
R0540:Chrna1	UTSW	2	73,401,815 (GRCm39)	missense	probably damaging	1.00
R0561:Chrna1	UTSW	2	73,396,596 (GRCm39)	missense	possibly damaging	0.84
R1922:Chrna1	UTSW	2	73,398,576 (GRCm39)	missense	probably damaging	1.00
R5303:Chrna1	UTSW	2	73,396,618 (GRCm39)	missense	probably benign
R5481:Chrna1	UTSW	2	73,397,270 (GRCm39)	missense	possibly damaging	0.90
R5598:Chrna1	UTSW	2	73,397,075 (GRCm39)	missense	probably benign	0.01
R5931:Chrna1	UTSW	2	73,398,444 (GRCm39)	missense	probably benign	0.39
R6153:Chrna1	UTSW	2	73,403,653 (GRCm39)	missense	probably benign	0.02
R6194:Chrna1	UTSW	2	73,400,816 (GRCm39)	missense	probably benign	0.17
R6301:Chrna1	UTSW	2	73,400,828 (GRCm39)	missense	possibly damaging	0.92
R6455:Chrna1	UTSW	2	73,397,180 (GRCm39)	missense	possibly damaging	0.88
R8293:Chrna1	UTSW	2	73,400,850 (GRCm39)	missense	probably benign
R8344:Chrna1	UTSW	2	73,400,953 (GRCm39)	missense	probably benign	0.12
X0026:Chrna1	UTSW	2	73,400,955 (GRCm39)	missense	probably benign	0.16

Posted On

2014-05-07