Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02799:Chrna1'

360120

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 #

IGL02799 (G1)

Quality Score

Status

Chromosome

Chromosomal Location

73393625-73410682 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 73404985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000028515
Gene: ENSMUSG00000027107

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

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (67/68)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	A	G	6: 86,083,234 (GRCm39)	N444S	possibly damaging	Het
Atp2b2	A	T	6: 113,739,813 (GRCm39)	Y823*	probably null	Het
Atp2c1	A	C	9: 105,290,242 (GRCm39)		probably benign	Het
Capns1	A	T	7: 29,891,644 (GRCm39)	D133E	probably benign	Het
Cast	A	G	13: 74,884,871 (GRCm39)	V361A	probably damaging	Het
Cd69	G	A	6: 129,245,223 (GRCm39)		probably benign	Het
Celsr2	T	A	3: 108,321,378 (GRCm39)	D478V	probably damaging	Het
Cenpf	T	C	1: 189,391,849 (GRCm39)	E661G	probably damaging	Het
Clec5a	C	A	6: 40,554,983 (GRCm39)	V138F	probably damaging	Het
Ctsj	T	A	13: 61,151,634 (GRCm39)	I95F	probably benign	Het
Dcaf1	T	A	9: 106,735,139 (GRCm39)	S696T	probably benign	Het
Dcp1a	T	C	14: 30,241,636 (GRCm39)		probably null	Het
Dnajc14	C	T	10: 128,642,725 (GRCm39)	P216S	possibly damaging	Het
Dst	T	C	1: 34,218,930 (GRCm39)	I1790T	possibly damaging	Het
Ehmt1	A	T	2: 24,705,818 (GRCm39)	H789Q	probably damaging	Het
Exoc7	A	T	11: 116,192,007 (GRCm39)	L188Q	probably damaging	Het
Faap100	A	G	11: 120,261,561 (GRCm39)	L823P	probably damaging	Het
Fdxacb1	T	A	9: 50,683,896 (GRCm39)	S620T	probably benign	Het
Fhl2	C	T	1: 43,167,562 (GRCm39)	R177Q	probably benign	Het
Gars1	C	A	6: 55,040,084 (GRCm39)	T337K	probably damaging	Het
Ggta1	A	T	2: 35,312,211 (GRCm39)	F56I	probably damaging	Het
Gm10715	A	C	9: 3,038,062 (GRCm39)		probably benign	Het
Gpr108	T	A	17: 57,544,482 (GRCm39)	I343F	probably damaging	Het
Gpr12	T	A	5: 146,520,629 (GRCm39)	I98F	possibly damaging	Het
Hk2	A	G	6: 82,737,219 (GRCm39)	L3P	probably damaging	Het
Imp4	C	A	1: 34,479,258 (GRCm39)		probably benign	Het
Insrr	G	A	3: 87,720,888 (GRCm39)	V1049M	probably damaging	Het
Klhl24	T	C	16: 19,933,331 (GRCm39)	V314A	probably damaging	Het
Krt32	A	T	11: 99,978,733 (GRCm39)	V107D	possibly damaging	Het
Krtap5-1	G	A	7: 141,850,242 (GRCm39)	Q189*	probably null	Het
Lrrc9	A	G	12: 72,553,178 (GRCm39)	E1360G	probably damaging	Het
Mdc1	G	T	17: 36,157,083 (GRCm39)	L163F	possibly damaging	Het
Mroh1	T	G	15: 76,276,661 (GRCm39)		probably null	Het
Myh8	A	G	11: 67,192,418 (GRCm39)		probably benign	Het
Ndufab1	A	T	7: 121,692,949 (GRCm39)		probably benign	Het
Nek3	A	G	8: 22,648,735 (GRCm39)		probably benign	Het
Ngly1	A	T	14: 16,260,636 (GRCm38)	I107L	probably benign	Het
Nkain4	A	T	2: 180,577,728 (GRCm39)		probably null	Het
Nsd2	T	A	5: 34,022,132 (GRCm39)		probably benign	Het
Or4n4	A	G	14: 50,518,801 (GRCm39)	I303T	probably benign	Het
Or5e1	A	T	7: 108,354,830 (GRCm39)	M256L	probably benign	Het
Or5t9	A	T	2: 86,659,300 (GRCm39)	H68L	probably damaging	Het
Or7e166	T	A	9: 19,624,314 (GRCm39)	Y64N	probably damaging	Het
Or8b12	T	A	9: 37,657,805 (GRCm39)	I125N	probably damaging	Het
Pcnt	G	A	10: 76,248,417 (GRCm39)	Q901*	probably null	Het
Pctp	C	A	11: 89,881,913 (GRCm39)	W81C	probably damaging	Het
Pik3r5	A	T	11: 68,386,773 (GRCm39)	I801F	probably damaging	Het
Ptprj	A	T	2: 90,299,942 (GRCm39)	N193K	probably benign	Het
Rab11fip1	A	T	8: 27,642,788 (GRCm39)	D670E	probably benign	Het
Racgap1	T	C	15: 99,530,628 (GRCm39)	K201E	probably benign	Het
Ranbp2	T	C	10: 58,316,086 (GRCm39)	F2269L	probably damaging	Het
Rint1	C	A	5: 24,024,478 (GRCm39)	A760D	possibly damaging	Het
Ryr2	G	A	13: 11,680,848 (GRCm39)	P3166S	probably damaging	Het
Snap29	A	G	16: 17,240,367 (GRCm39)	N158D	probably benign	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
St6galnac1	G	T	11: 116,657,473 (GRCm39)		probably benign	Het
Strc	G	A	2: 121,209,717 (GRCm39)	T202I	probably damaging	Het
Stxbp4	A	G	11: 90,385,426 (GRCm39)		probably null	Het
Syne1	A	T	10: 5,309,059 (GRCm39)	M650K	probably damaging	Het
Tbc1d2b	C	T	9: 90,105,487 (GRCm39)		probably benign	Het
Tcfl5	A	T	2: 180,280,419 (GRCm39)	I328N	possibly damaging	Het
Tenm2	A	G	11: 36,164,235 (GRCm39)	Y337H	probably damaging	Het
Tgfbr2	T	C	9: 115,939,204 (GRCm39)	K233E	possibly damaging	Het
Tnk2	T	C	16: 32,484,699 (GRCm39)		probably benign	Het
Trbv13-2	A	G	6: 41,098,471 (GRCm39)		probably benign	Het
Tut4	T	C	4: 108,370,725 (GRCm39)	Y875H	probably benign	Het
Usp6nl	T	A	2: 6,432,360 (GRCm39)		probably benign	Het
Vmn2r62	A	G	7: 42,437,396 (GRCm39)	S363P	possibly damaging	Het
Vnn3	T	C	10: 23,727,869 (GRCm39)	I93T	possibly damaging	Het
Ylpm1	A	G	12: 85,091,258 (GRCm39)	D1108G	probably damaging	Het
Zbtb17	G	A	4: 141,190,691 (GRCm39)	G170S	probably benign	Het
Zfyve26	T	C	12: 79,320,084 (GRCm39)	E1087G	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
IGL02043:Chrna1	APN	2	73,398,450 (GRCm39)	missense	probably benign	0.00
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
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

2015-12-18