Mutagenetix > Incidental Mutation

Incidental Mutation 'R6194:Chrna1'

502767

Institutional Source

Beutler Lab

Gene Symbol

Chrna1

Ensembl Gene

ENSMUSG00000027107

Gene Name

cholinergic receptor nicotinic alpha 1 subunit

Synonyms

Acra, Achr-1

MMRRC Submission

044334-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6194 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73393625-73410682 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73400816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 238 (V238A)

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: V238A

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000028515
Gene: ENSMUSG00000027107
AA Change: V238A

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031410I06Rik	T	C	5: 26,309,033 (GRCm39)	I90V	probably benign	Het
Afap1l2	T	A	19: 56,911,383 (GRCm39)	R370S	probably damaging	Het
Alcam	A	G	16: 52,088,761 (GRCm39)	Y537H	probably damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Asap1	A	G	15: 64,001,058 (GRCm39)	S508P	probably damaging	Het
Atg5	T	C	10: 44,170,612 (GRCm39)	L86P	probably damaging	Het
Atp13a5	G	A	16: 29,127,057 (GRCm39)	P502S	probably damaging	Het
AW209491	T	A	13: 14,811,705 (GRCm39)	I186K	possibly damaging	Het
Baz1b	T	C	5: 135,272,744 (GRCm39)	Y1354H	probably damaging	Het
Card6	A	T	15: 5,127,926 (GRCm39)	S1157T	unknown	Het
Chil6	A	G	3: 106,312,192 (GRCm39)		probably null	Het
Cluap1	A	G	16: 3,747,770 (GRCm39)	S308G	probably benign	Het
Cntnap4	A	G	8: 113,602,061 (GRCm39)	D1155G	probably damaging	Het
Cptp	A	G	4: 155,951,098 (GRCm39)	F123L	probably damaging	Het
Elapor1	T	C	3: 108,373,095 (GRCm39)	I600V	probably benign	Het
Fbxw2	G	A	2: 34,697,416 (GRCm39)	T317I	probably damaging	Het
Gc	A	T	5: 89,589,438 (GRCm39)	V197E	probably benign	Het
Gusb	C	T	5: 130,018,906 (GRCm39)	V577M	possibly damaging	Het
Hectd1	A	T	12: 51,795,228 (GRCm39)	N2400K	probably damaging	Het
Hnrnph1	T	A	11: 50,274,104 (GRCm39)	D340E	possibly damaging	Het
Hs3st1	C	A	5: 39,771,748 (GRCm39)	K298N	probably damaging	Het
Hunk	A	T	16: 90,293,283 (GRCm39)	T522S	probably damaging	Het
Ifit3	T	C	19: 34,565,027 (GRCm39)	F191S	probably benign	Het
Ifnab	T	A	4: 88,609,362 (GRCm39)	K35*	probably null	Het
Ifnab	G	T	4: 88,609,363 (GRCm39)	N34K	probably damaging	Het
Ighmbp2	C	A	19: 3,312,003 (GRCm39)	R917L	possibly damaging	Het
Igkv13-84	C	T	6: 68,916,916 (GRCm39)	A71V	possibly damaging	Het
Irag1	T	C	7: 110,498,901 (GRCm39)	N377D	probably damaging	Het
Lim2	T	A	7: 43,085,086 (GRCm39)	C159S	probably damaging	Het
Lrrc56	T	C	7: 140,785,564 (GRCm39)	Y147H	probably damaging	Het
Ltn1	A	G	16: 87,212,698 (GRCm39)	L621P	probably damaging	Het
Mapk8ip1	C	A	2: 92,219,589 (GRCm39)	G81C	probably damaging	Het
Mboat2	T	A	12: 24,996,637 (GRCm39)	S213R	probably benign	Het
Mmel1	T	A	4: 154,967,673 (GRCm39)	C99*	probably null	Het
Myo9a	A	G	9: 59,777,033 (GRCm39)	I1144V	probably benign	Het
Naa15	A	G	3: 51,370,721 (GRCm39)	T612A	probably benign	Het
Naalad2	C	T	9: 18,262,443 (GRCm39)	V362I	probably benign	Het
Nbeal1	A	T	1: 60,296,643 (GRCm39)	I1178F	possibly damaging	Het
Nras	C	A	3: 102,966,269 (GRCm39)	A11E	probably damaging	Het
Or13f5	T	A	4: 52,825,779 (GRCm39)	C127*	probably null	Het
Or56a3b	G	T	7: 104,771,377 (GRCm39)	V238L	probably benign	Het
Pcdhb7	A	G	18: 37,475,199 (GRCm39)	T112A	probably damaging	Het
Peg10	C	CCCATCAGGA	6: 4,756,351 (GRCm39)		probably benign	Het
Pfkfb2	A	G	1: 130,625,624 (GRCm39)	*519Q	probably null	Het
Prodh	A	T	16: 17,890,381 (GRCm39)	H515Q	probably benign	Het
Rbfox2	T	C	15: 76,968,357 (GRCm39)	T435A	possibly damaging	Het
Rbks	T	C	5: 31,824,234 (GRCm39)	E87G	probably benign	Het
Scyl1	G	T	19: 5,820,334 (GRCm39)	Q167K	possibly damaging	Het
Serpina3i	T	A	12: 104,232,762 (GRCm39)	D222E	probably benign	Het
Slc36a4	T	A	9: 15,638,172 (GRCm39)	C199*	probably null	Het
Slx1b	C	T	7: 126,291,503 (GRCm39)	R187H	possibly damaging	Het
Stxbp5	A	G	10: 9,693,083 (GRCm39)	F348L	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tfpt	A	T	7: 3,632,026 (GRCm39)	L28Q	probably damaging	Het
Trap1	G	A	16: 3,872,664 (GRCm39)	T335M	possibly damaging	Het
Zcchc2	T	A	1: 105,918,847 (GRCm39)	F110I	probably damaging	Het
Zfp345	A	T	2: 150,314,551 (GRCm39)	C329S	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
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
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'- TGTGCACAGCAATGATGACTTG -3'
(R):5'- GTAGCAGGAGTCTTCAGACCTTG -3'

Sequencing Primer
(F):5'- CACAGCAATGATGACTTGGGTCTC -3'
(R):5'- TTGATTCTCAGGAAAGTGACCAGC -3'

Posted On

2018-02-27