Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02553:Chrna1'

298576

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 #

IGL02553

Quality Score

Status

Chromosome

Chromosomal Location

73393625-73410682 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73397206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 361 (I361N)

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

possibly damaging
Transcript: ENSMUST00000028515
AA Change: I361N

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028515
Gene: ENSMUSG00000027107
AA Change: I361N

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,242,750 (GRCm39)	S1326P	probably damaging	Het
Alpk1	A	T	3: 127,466,970 (GRCm39)	L1103Q	probably damaging	Het
Arhgap11a	A	C	2: 113,667,906 (GRCm39)		probably benign	Het
Arl6ip6	A	G	2: 53,082,226 (GRCm39)	Y31C	possibly damaging	Het
Arpin	G	T	7: 79,577,395 (GRCm39)	D217E	possibly damaging	Het
Atp13a4	C	T	16: 29,241,521 (GRCm39)	V735I	probably benign	Het
Ccdc146	A	T	5: 21,502,631 (GRCm39)	F753L	probably benign	Het
Cdh3	T	A	8: 107,270,880 (GRCm39)	L511*	probably null	Het
Clk2	G	A	3: 89,083,020 (GRCm39)	R432H	probably damaging	Het
Col9a1	T	C	1: 24,261,018 (GRCm39)		probably benign	Het
Cstf1	G	T	2: 172,219,774 (GRCm39)	R295L	probably benign	Het
Dsg2	A	G	18: 20,725,467 (GRCm39)	D526G	probably damaging	Het
Dsg4	T	A	18: 20,595,577 (GRCm39)	H593Q	probably benign	Het
Dysf	T	C	6: 84,107,109 (GRCm39)	Y1171H	possibly damaging	Het
Erbb4	A	G	1: 68,345,023 (GRCm39)	L566P	probably benign	Het
Fam185a	T	A	5: 21,660,829 (GRCm39)	D281E	probably damaging	Het
Fam185a	T	A	5: 21,634,839 (GRCm39)		probably benign	Het
Fam91a1	T	A	15: 58,304,831 (GRCm39)		probably null	Het
Fat2	A	G	11: 55,202,109 (GRCm39)	W322R	probably damaging	Het
Fbxw8	T	A	5: 118,204,125 (GRCm39)		probably benign	Het
Ganc	A	G	2: 120,288,615 (GRCm39)	T874A	probably benign	Het
Gm3543	T	C	14: 41,802,048 (GRCm39)	I145M	probably benign	Het
Gtf2i	G	A	5: 134,274,015 (GRCm39)	T712I	probably damaging	Het
Hk1	A	G	10: 62,131,552 (GRCm39)	S268P	possibly damaging	Het
Hmcn1	A	G	1: 150,868,774 (GRCm39)	V10A	probably benign	Het
Hsd17b4	C	T	18: 50,295,164 (GRCm39)		probably benign	Het
Ighv1-75	A	T	12: 115,797,725 (GRCm39)	W66R	probably damaging	Het
Kif21b	G	T	1: 136,081,859 (GRCm39)	D636Y	probably damaging	Het
Kif5b	A	T	18: 6,220,914 (GRCm39)	I398N	probably benign	Het
Metap2	T	C	10: 93,701,311 (GRCm39)	M165V	probably damaging	Het
Mterf2	A	C	10: 84,956,331 (GRCm39)	L98V	probably damaging	Het
Muc16	A	G	9: 18,409,849 (GRCm39)		probably null	Het
Myo3b	A	G	2: 69,925,568 (GRCm39)	M12V	probably benign	Het
Nat10	C	A	2: 103,583,013 (GRCm39)	R136I	probably damaging	Het
Nsd2	T	G	5: 34,003,542 (GRCm39)	S231A	probably damaging	Het
Or4a71	T	C	2: 89,358,275 (GRCm39)	T160A	probably benign	Het
Or4k37	A	T	2: 111,159,333 (GRCm39)	M190L	probably benign	Het
Pcdhb14	T	A	18: 37,581,071 (GRCm39)	L59*	probably null	Het
Pias4	A	G	10: 80,999,621 (GRCm39)	L144P	probably damaging	Het
Plxna2	T	A	1: 194,433,746 (GRCm39)	N598K	probably benign	Het
Polq	A	G	16: 36,862,130 (GRCm39)	Y550C	probably damaging	Het
Pot1b	T	A	17: 56,002,024 (GRCm39)		probably benign	Het
Proz	T	C	8: 13,115,260 (GRCm39)	V92A	probably benign	Het
Rab4a	T	C	8: 124,550,561 (GRCm39)	F14L	probably benign	Het
Riok3	T	A	18: 12,276,073 (GRCm39)	C256*	probably null	Het
Slc6a1	T	A	6: 114,279,451 (GRCm39)		probably benign	Het
Socs5	C	T	17: 87,442,419 (GRCm39)	T453M	probably damaging	Het
Spata3	T	C	1: 85,952,211 (GRCm39)	L135P	probably damaging	Het
Spata46	A	G	1: 170,139,534 (GRCm39)	K178E	probably damaging	Het
Spr	T	C	6: 85,114,430 (GRCm39)	N100D	probably damaging	Het
Srrm4	C	T	5: 116,582,624 (GRCm39)		probably benign	Het
Stard3	T	C	11: 98,267,389 (GRCm39)	F169S	possibly damaging	Het
Tbx1	T	A	16: 18,402,847 (GRCm39)	D222V	probably damaging	Het
Trbv23	C	T	6: 41,193,279 (GRCm39)	Q56*	probably null	Het
Tsc22d1	A	G	14: 76,654,838 (GRCm39)	N357S	possibly damaging	Het
Ugt1a6a	C	T	1: 88,066,811 (GRCm39)	P206S	probably benign	Het
Utp20	A	G	10: 88,600,657 (GRCm39)	V19A	probably damaging	Het
Vps13b	A	G	15: 35,646,447 (GRCm39)	N1517S	probably benign	Het
Washc2	T	C	6: 116,218,571 (GRCm39)	I672T	probably damaging	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
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

2015-04-16