Mutagenetix > Incidental Mutation

Incidental Mutation 'R4425:Chrnb1'

328119

Institutional Source

Beutler Lab

Gene Symbol

Chrnb1

Ensembl Gene

ENSMUSG00000041189

Gene Name

cholinergic receptor nicotinic beta 1 subunit

Synonyms

Acrb, Achr-2, AChR beta

MMRRC Submission

041144-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.871) question?

Stock #

R4425 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69674862-69686742 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69677773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 326 (S326R)

Ref Sequence

ENSEMBL: ENSMUSP00000047270 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045971] [ENSMUST00000108639] [ENSMUST00000108642]

AlphaFold

P09690

Predicted Effect

probably damaging
Transcript: ENSMUST00000045971
AA Change: S326R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047270
Gene: ENSMUSG00000041189
AA Change: S326R

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
Pfam:Neur_chan_LBD	27	245	3.6e-65	PFAM
Pfam:Neur_chan_memb	252	487	3.5e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108639

SMART Domains

Protein: ENSMUSP00000104279
Gene: ENSMUSG00000018750

Domain	Start	End	E-Value	Type
BTB	30	166	2e-15	SMART
ZnF_C2H2	210	230	1.91e1	SMART
low complexity region	240	261	N/A	INTRINSIC
low complexity region	274	283	N/A	INTRINSIC
ZnF_C2H2	285	307	1.53e-1	SMART
ZnF_C2H2	313	335	1.91e1	SMART
ZnF_C2H2	341	364	5.81e-2	SMART
low complexity region	422	445	N/A	INTRINSIC
low complexity region	461	482	N/A	INTRINSIC
low complexity region	485	532	N/A	INTRINSIC
low complexity region	551	568	N/A	INTRINSIC
coiled coil region	601	637	N/A	INTRINSIC
low complexity region	650	662	N/A	INTRINSIC
low complexity region	664	673	N/A	INTRINSIC
ZnF_C2H2	700	722	3.78e-1	SMART
ZnF_C2H2	739	761	6.23e-2	SMART
low complexity region	799	820	N/A	INTRINSIC
low complexity region	947	961	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108642

SMART Domains

Protein: ENSMUSP00000104282
Gene: ENSMUSG00000018750

Domain	Start	End	E-Value	Type
BTB	30	166	2e-15	SMART

Meta Mutation Damage Score

0.6794

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (55/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-in allele lack all tyrosine residues in the beta subunit intracellular loop, display reduced and simplified neuromuscular junctions, and show defective acetylcholine receptor clustering and anchoring at synapses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	T	C	11: 94,236,870 (GRCm39)	T1456A	probably damaging	Het
Acad11	T	C	9: 103,950,844 (GRCm39)	F56S	probably damaging	Het
Adamts8	A	G	9: 30,867,952 (GRCm39)	N592S	possibly damaging	Het
Amh	A	G	10: 80,642,755 (GRCm39)	D313G	probably damaging	Het
Ampd2	T	C	3: 107,994,052 (GRCm39)		probably benign	Het
Arap3	A	G	18: 38,111,653 (GRCm39)	L1115P	probably damaging	Het
Arfgap1	C	A	2: 180,622,869 (GRCm39)	D327E	probably benign	Het
Capns2	T	A	8: 93,628,252 (GRCm39)	I47N	possibly damaging	Het
Cd163	T	C	6: 124,304,862 (GRCm39)	S1080P	possibly damaging	Het
Ceacam10	A	T	7: 24,480,433 (GRCm39)	Y68F	possibly damaging	Het
Cep44	G	A	8: 56,991,652 (GRCm39)	P317S	probably benign	Het
Cfh	A	T	1: 140,028,613 (GRCm39)	Y688*	probably null	Het
Cngb1	C	T	8: 96,026,344 (GRCm39)	V25M	probably damaging	Het
Cyp2c50	A	T	19: 40,079,136 (GRCm39)	N160Y	possibly damaging	Het
Dalrd3	T	C	9: 108,448,800 (GRCm39)		probably benign	Het
Eef1d	C	A	15: 75,774,648 (GRCm39)	S253I	possibly damaging	Het
Efl1	G	A	7: 82,412,491 (GRCm39)	C960Y	probably damaging	Het
Elmo1	C	G	13: 20,784,382 (GRCm39)	Y646*	probably null	Het
Epb41l2	C	A	10: 25,382,078 (GRCm39)	D701E	possibly damaging	Het
Fbxl4	T	A	4: 22,422,699 (GRCm39)		probably null	Het
Fhod1	T	C	8: 106,063,983 (GRCm39)		probably benign	Het
Gm8741	G	T	17: 35,555,062 (GRCm39)		noncoding transcript	Het
Igkv10-95	A	T	6: 68,657,606 (GRCm39)	I21F	probably damaging	Het
Il10rb	C	A	16: 91,204,603 (GRCm39)	N51K	possibly damaging	Het
Krt78	T	C	15: 101,856,375 (GRCm39)	T479A	probably benign	Het
Lrig3	T	C	10: 125,849,273 (GRCm39)	S998P	probably benign	Het
Lrrc8c	T	A	5: 105,755,755 (GRCm39)	M510K	probably benign	Het
Nfrkb	G	T	9: 31,311,258 (GRCm39)	C369F	probably damaging	Het
Nphp1	T	C	2: 127,630,719 (GRCm39)	E19G	possibly damaging	Het
Or10a5	A	C	7: 106,635,698 (GRCm39)	E112A	probably damaging	Het
Or4f14b	T	C	2: 111,775,534 (GRCm39)	H89R	probably benign	Het
Ovol3	A	T	7: 29,934,789 (GRCm39)		probably null	Het
Ppp1r16b	C	T	2: 158,599,174 (GRCm39)	T382I	probably benign	Het
Rims2	T	C	15: 39,301,320 (GRCm39)		probably null	Het
Sh3rf3	T	C	10: 58,919,398 (GRCm39)	V505A	probably benign	Het
Shkbp1	T	C	7: 27,042,727 (GRCm39)	N570S	probably benign	Het
Slc35f4	C	T	14: 49,556,307 (GRCm39)	V149I	possibly damaging	Het
Snx27	A	G	3: 94,469,330 (GRCm39)	F4L	probably benign	Het
Syvn1	C	T	19: 6,099,951 (GRCm39)		probably benign	Het
Tagap1	G	A	17: 7,223,511 (GRCm39)	S395L	probably benign	Het
Tcstv2b	C	A	13: 120,373,908 (GRCm39)	L127F	probably damaging	Het
Tek	A	G	4: 94,751,904 (GRCm39)	T1014A	probably damaging	Het
Top2a	A	G	11: 98,892,231 (GRCm39)	I1077T	probably benign	Het
Tpo	T	C	12: 30,154,015 (GRCm39)	Y230C	probably damaging	Het
Trav12-2	A	G	14: 53,854,332 (GRCm39)	Q102R	possibly damaging	Het
Ttn	G	A	2: 76,733,430 (GRCm39)		probably benign	Het
Vmn1r183	A	T	7: 23,754,973 (GRCm39)	I259F	probably benign	Het
Vmn1r228	T	C	17: 20,996,861 (GRCm39)	E219G	probably damaging	Het
Vsig8	G	T	1: 172,390,714 (GRCm39)	G254V	probably damaging	Het
Vwa8	A	G	14: 79,320,246 (GRCm39)	I1086V	probably benign	Het
Zfp423	G	A	8: 88,509,601 (GRCm39)	H123Y	probably damaging	Het
Zfp811	A	T	17: 33,016,521 (GRCm39)	C506*	probably null	Het

Other mutations in Chrnb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Chrnb1	APN	11	69,684,742 (GRCm39)	missense	probably damaging	1.00
IGL01924:Chrnb1	APN	11	69,685,845 (GRCm39)	unclassified	probably benign
IGL01983:Chrnb1	APN	11	69,686,555 (GRCm39)	missense	probably benign	0.27
IGL02100:Chrnb1	APN	11	69,684,281 (GRCm39)	unclassified	probably benign
IGL02507:Chrnb1	APN	11	69,675,916 (GRCm39)	missense	probably damaging	1.00
IGL02814:Chrnb1	APN	11	69,686,506 (GRCm39)	missense	probably damaging	1.00
IGL02858:Chrnb1	APN	11	69,675,935 (GRCm39)	missense	possibly damaging	0.58
R0368:Chrnb1	UTSW	11	69,675,583 (GRCm39)	missense	probably damaging	1.00
R1728:Chrnb1	UTSW	11	69,676,588 (GRCm39)	missense	probably damaging	1.00
R1913:Chrnb1	UTSW	11	69,684,410 (GRCm39)	missense	possibly damaging	0.95
R1930:Chrnb1	UTSW	11	69,683,563 (GRCm39)	missense	possibly damaging	0.81
R2233:Chrnb1	UTSW	11	69,686,428 (GRCm39)	missense	probably damaging	0.98
R2234:Chrnb1	UTSW	11	69,686,428 (GRCm39)	missense	probably damaging	0.98
R3971:Chrnb1	UTSW	11	69,683,742 (GRCm39)	unclassified	probably benign
R4183:Chrnb1	UTSW	11	69,677,922 (GRCm39)	missense	possibly damaging	0.50
R4822:Chrnb1	UTSW	11	69,686,501 (GRCm39)	missense	possibly damaging	0.55
R4983:Chrnb1	UTSW	11	69,684,804 (GRCm39)	missense	probably damaging	1.00
R5000:Chrnb1	UTSW	11	69,677,858 (GRCm39)	missense	probably damaging	0.96
R5378:Chrnb1	UTSW	11	69,676,007 (GRCm39)	missense	probably benign	0.00
R5396:Chrnb1	UTSW	11	69,684,979 (GRCm39)	missense	probably damaging	1.00
R5540:Chrnb1	UTSW	11	69,686,476 (GRCm39)	missense	probably benign	0.30
R5574:Chrnb1	UTSW	11	69,684,509 (GRCm39)	unclassified	probably benign
R5890:Chrnb1	UTSW	11	69,683,555 (GRCm39)	missense	possibly damaging	0.94
R5973:Chrnb1	UTSW	11	69,686,671 (GRCm39)	unclassified	probably benign
R6056:Chrnb1	UTSW	11	69,677,765 (GRCm39)	missense	probably damaging	1.00
R7466:Chrnb1	UTSW	11	69,675,476 (GRCm39)	missense	probably damaging	1.00
R7633:Chrnb1	UTSW	11	69,683,699 (GRCm39)	missense	probably damaging	1.00
R7664:Chrnb1	UTSW	11	69,677,850 (GRCm39)	missense	possibly damaging	0.80
R8266:Chrnb1	UTSW	11	69,675,447 (GRCm39)	makesense	probably null
R9124:Chrnb1	UTSW	11	69,685,057 (GRCm39)	missense	probably benign	0.31
Z1177:Chrnb1	UTSW	11	69,685,015 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCTGGACACAAACCCAAGTG -3'
(R):5'- AAAACTAATCCTCTGCCTTCACTG -3'

Sequencing Primer
(F):5'- TCTGTCATTTGCAGACAGGATC -3'
(R):5'- CTGCCTTCACTGCCTCTC -3'

Posted On

2015-07-07