Mutagenetix > Incidental Mutation

Incidental Mutation 'R6153:Chrna1'

489361

Institutional Source

Beutler Lab

Gene Symbol

Chrna1

Ensembl Gene

ENSMUSG00000027107

Gene Name

cholinergic receptor nicotinic alpha 1 subunit

Synonyms

Acra, Achr-1

MMRRC Submission

044300-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6153 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73393625-73410682 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 73403653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 99 (H99N)

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: H99N

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000028515
Gene: ENSMUSG00000027107
AA Change: H99N

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

Meta Mutation Damage Score

0.1692

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

99% (66/67)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	T	11: 9,251,259 (GRCm39)		probably null	Het
Ache	T	C	5: 137,290,117 (GRCm39)	I394T	probably damaging	Het
Acsm1	G	A	7: 119,232,289 (GRCm39)	G62D	probably damaging	Het
Actrt3	T	A	3: 30,653,899 (GRCm39)	I34F	probably damaging	Het
Adgrf5	T	C	17: 43,761,974 (GRCm39)	I1223T	possibly damaging	Het
Adora2a	T	C	10: 75,161,981 (GRCm39)	F40S	possibly damaging	Het
Ano8	T	C	8: 71,933,441 (GRCm39)		probably benign	Het
Arid1b	T	A	17: 5,293,107 (GRCm39)	L675Q	probably damaging	Het
Atg2b	T	C	12: 105,589,741 (GRCm39)	I1837V	possibly damaging	Het
Atp10b	A	G	11: 43,145,109 (GRCm39)	Y1284C	probably damaging	Het
B3gnt7	G	T	1: 86,233,237 (GRCm39)	G44V	probably damaging	Het
Cnksr1	T	C	4: 133,961,204 (GRCm39)	H220R	probably damaging	Het
Cpsf2	T	A	12: 101,965,619 (GRCm39)		probably null	Het
Daglb	T	C	5: 143,489,096 (GRCm39)	L651P	probably benign	Het
Ddx60	A	G	8: 62,398,974 (GRCm39)	D231G	possibly damaging	Het
Ehd4	A	C	2: 119,932,904 (GRCm39)	F174C	probably damaging	Het
Emsy	G	T	7: 98,260,060 (GRCm39)	P9T	probably damaging	Het
Fnbp1l	T	C	3: 122,352,805 (GRCm39)	E217G	probably benign	Het
Gm11596	A	T	11: 99,683,524 (GRCm39)	C199S	unknown	Het
Gmps	T	G	3: 63,908,964 (GRCm39)	C489G	probably benign	Het
Gpsm1	T	C	2: 26,215,425 (GRCm39)	Y296H	probably benign	Het
Heatr5b	T	C	17: 79,138,870 (GRCm39)	T91A	possibly damaging	Het
Hs3st3b1	A	T	11: 63,780,324 (GRCm39)	W268R	probably damaging	Het
Il27ra	T	C	8: 84,758,773 (GRCm39)		probably null	Het
Itga5	T	A	15: 103,265,880 (GRCm39)	I156F	probably damaging	Het
Kcnmb3	T	A	3: 32,527,976 (GRCm39)	D96V	probably damaging	Het
Khdrbs1	T	A	4: 129,609,965 (GRCm39)	N417Y	probably damaging	Het
Loxhd1	A	G	18: 77,383,454 (GRCm39)	N118D	possibly damaging	Het
Mdm4	A	G	1: 132,919,845 (GRCm39)	L341P	probably damaging	Het
Mecom	T	C	3: 30,047,797 (GRCm39)	E225G	possibly damaging	Het
Megf8	G	A	7: 25,046,796 (GRCm39)	G1560S	possibly damaging	Het
Mfsd13a	A	T	19: 46,356,321 (GRCm39)	D142V	probably damaging	Het
Muc5b	A	T	7: 141,415,181 (GRCm39)	Y2709F	possibly damaging	Het
Nelfa	A	T	5: 34,056,223 (GRCm39)	I480N	probably damaging	Het
Or10ak8	G	A	4: 118,773,944 (GRCm39)	S240F	probably damaging	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Palld	G	T	8: 62,003,186 (GRCm39)	N304K	probably damaging	Het
Pcsk5	A	G	19: 17,488,856 (GRCm39)	L988P	probably damaging	Het
Prmt1	A	T	7: 44,631,251 (GRCm39)	F34I	probably damaging	Het
Pzp	A	G	6: 128,465,979 (GRCm39)	S1234P	probably benign	Het
Ralb	A	T	1: 119,405,870 (GRCm39)		probably null	Het
Robo2	T	A	16: 73,717,617 (GRCm39)	D141V	probably damaging	Het
Rsrc1	T	C	3: 67,262,895 (GRCm39)	I283T	probably benign	Het
Sec62	A	T	3: 30,864,631 (GRCm39)	K165M	unknown	Het
Sez6	A	G	11: 77,868,648 (GRCm39)	D974G	probably damaging	Het
Shc2	T	A	10: 79,465,752 (GRCm39)	I187F	possibly damaging	Het
Shroom3	G	A	5: 93,112,267 (GRCm39)	R1876Q	probably damaging	Het
Siglecg	C	A	7: 43,061,441 (GRCm39)	N481K	possibly damaging	Het
Skil	T	A	3: 31,152,002 (GRCm39)	F175I	probably damaging	Het
Slc1a1	T	C	19: 28,886,935 (GRCm39)	V432A	probably damaging	Het
Slit3	G	T	11: 35,591,310 (GRCm39)	G1374V	possibly damaging	Het
Snx14	T	C	9: 88,273,859 (GRCm39)	Y644C	probably damaging	Het
Snx33	T	A	9: 56,833,983 (GRCm39)	I29F	possibly damaging	Het
Sos1	T	A	17: 80,756,764 (GRCm39)	I263L	probably benign	Het
Susd2	C	T	10: 75,473,853 (GRCm39)	A581T	probably damaging	Het
Tbpl2	C	A	2: 23,966,028 (GRCm39)	V320F	probably damaging	Het
Tmem209	A	G	6: 30,505,794 (GRCm39)	S171P	probably benign	Het
Tprkb	T	A	6: 85,893,172 (GRCm39)		probably null	Het
Tspan11	G	A	6: 127,916,061 (GRCm39)	S119N	probably benign	Het
Ulk2	A	T	11: 61,672,572 (GRCm39)	V922D	probably damaging	Het
Zfp267	A	G	3: 36,219,303 (GRCm39)	H442R	possibly damaging	Het
Zfp976	A	C	7: 42,263,610 (GRCm39)	Y76D	probably damaging	Het
Zkscan2	G	A	7: 123,088,993 (GRCm39)	T426I	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
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
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'- CTTGCCTGTCAGCGTGGTTC -3'
(R):5'- ATATGCATGCTGATGTCCTGTTTGA -3'

Sequencing Primer
(F):5'- CAGCGTGGTTCTGGTTTTAAG -3'
(R):5'- TATCATGGCAACTTCTGGAGGCC -3'

Posted On

2017-10-10