Mutagenetix > Incidental Mutation

Incidental Mutation 'R0561:Chrna1'

45853

Institutional Source

Beutler Lab

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 #

R0561 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73393625-73410682 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73396596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 433 (V433A)

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: V433A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028515
Gene: ENSMUSG00000027107
AA Change: V433A

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: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.6%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	A	G	12: 88,335,204 (GRCm39)	D30G	possibly damaging	Het
Apc	A	T	18: 34,446,356 (GRCm39)	H1050L	possibly damaging	Het
Armc2	A	G	10: 41,869,188 (GRCm39)	V166A	probably benign	Het
Atp6v1b1	A	T	6: 83,730,793 (GRCm39)	I173F	probably damaging	Het
Bpifb4	A	G	2: 153,786,742 (GRCm39)	D298G	probably damaging	Het
C4b	T	A	17: 34,953,391 (GRCm39)	S1031C	probably damaging	Het
Calcr	A	G	6: 3,692,630 (GRCm39)	I408T	probably damaging	Het
Catsperg1	T	C	7: 28,881,737 (GRCm39)	N1009S	probably damaging	Het
Ces2a	T	C	8: 105,464,165 (GRCm39)	S266P	probably benign	Het
Ctnnb1	G	A	9: 120,780,788 (GRCm39)	V291M	probably damaging	Het
Dcbld1	T	C	10: 52,138,032 (GRCm39)	Y99H	probably benign	Het
Ddx60	A	T	8: 62,470,828 (GRCm39)	H1440L	possibly damaging	Het
Dsg1c	A	T	18: 20,407,832 (GRCm39)	I393L	probably benign	Het
Eif5	G	T	12: 111,506,950 (GRCm39)	R128L	probably benign	Het
Ercc3	A	G	18: 32,378,592 (GRCm39)	D191G	possibly damaging	Het
Gp1ba	A	T	11: 70,530,416 (GRCm39)		probably benign	Het
Krt24	C	T	11: 99,175,439 (GRCm39)	E199K	probably damaging	Het
Lrif1	G	T	3: 106,639,481 (GRCm39)	A164S	probably damaging	Het
Map2	A	G	1: 66,464,656 (GRCm39)	D1682G	probably damaging	Het
Megf8	C	T	7: 25,028,257 (GRCm39)	P274S	probably benign	Het
Mslnl	C	T	17: 25,962,177 (GRCm39)	Q192*	probably null	Het
Nfkb2	T	C	19: 46,298,301 (GRCm39)	V535A	possibly damaging	Het
Or10q1	A	T	19: 13,726,662 (GRCm39)	Y64F	probably damaging	Het
Or4a66	A	G	2: 88,530,914 (GRCm39)	I253T	possibly damaging	Het
Or4c11	T	A	2: 88,695,024 (GRCm39)	V25E	possibly damaging	Het
Or7a37	T	A	10: 78,805,729 (GRCm39)	L82*	probably null	Het
Or8b37	G	T	9: 37,959,123 (GRCm39)	V202L	probably benign	Het
Or8g22	C	T	9: 38,958,669 (GRCm39)	M15I	probably damaging	Het
Pag1	T	A	3: 9,764,481 (GRCm39)	Y224F	probably damaging	Het
Pbrm1	A	C	14: 30,757,948 (GRCm39)	I193L	probably benign	Het
Phrf1	T	C	7: 140,834,876 (GRCm39)	V17A	probably benign	Het
Plekhg2	T	G	7: 28,069,908 (GRCm39)	T42P	probably benign	Het
Pmp22	T	A	11: 63,025,250 (GRCm39)	W28R	probably damaging	Het
Ppp1r13b	A	T	12: 111,832,880 (GRCm39)	H82Q	probably damaging	Het
Rgs8	T	C	1: 153,541,668 (GRCm39)		probably null	Het
Rtl1	A	G	12: 109,560,363 (GRCm39)	V492A	probably damaging	Het
Slc22a27	A	G	19: 7,857,527 (GRCm39)		probably null	Het
Slx4ip	A	G	2: 136,908,090 (GRCm39)	E79G	probably null	Het
Syde1	C	T	10: 78,425,210 (GRCm39)	R267H	probably damaging	Het
Tas2r114	A	G	6: 131,666,758 (GRCm39)	I90T	probably benign	Het
Tjp3	C	T	10: 81,109,674 (GRCm39)	G843D	probably benign	Het
Tln1	A	T	4: 43,550,304 (GRCm39)	M453K	possibly damaging	Het
Ttc39a	A	T	4: 109,297,799 (GRCm39)	Y408F	probably damaging	Het
Usp39	T	G	6: 72,313,368 (GRCm39)	Q274P	probably damaging	Het
Uvrag	C	T	7: 98,537,768 (GRCm39)	V476I	probably damaging	Het
Vcan	T	A	13: 89,860,372 (GRCm39)	T332S	probably damaging	Het
Vcan	T	A	13: 89,879,583 (GRCm39)	H22L	possibly damaging	Het
Wls	A	G	3: 159,578,705 (GRCm39)	D89G	probably benign	Het
Zfhx2	A	T	14: 55,303,346 (GRCm39)	V1546E	probably benign	Het
Zfp457	T	A	13: 67,442,134 (GRCm39)	H147L	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCAAGAATACAGCCGTGTGAGCAG -3'
(R):5'- ACCATGAAGTCAGACCAGGAGTCC -3'

Sequencing Primer
(F):5'- CGTGTGAGCAGAGATCACTC -3'
(R):5'- gtctgtctgtctgtctatctatctg -3'

Posted On

2013-06-11