Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01924:Chrnb1'

180240

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chrnb1

Ensembl Gene

ENSMUSG00000041189

Gene Name

cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)

Synonyms

AChR beta, Acrb, Achr-2

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.906) question?

Stock #

IGL01924

Quality Score

Status

Chromosome

Chromosomal Location

69784036-69795943 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 69795019 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099645 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011285] [ENSMUST00000045971] [ENSMUST00000102585]

Predicted Effect

probably benign
Transcript: ENSMUST00000011285

SMART Domains

Protein: ENSMUSP00000011285
Gene: ENSMUSG00000042826

Domain	Start	End	E-Value	Type
FGF	69	172	6.95e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000045971

SMART Domains

Protein: ENSMUSP00000047270
Gene: ENSMUSG00000041189

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: ENSMUST00000102585

SMART Domains

Protein: ENSMUSP00000099645
Gene: ENSMUSG00000042826

Domain	Start	End	E-Value	Type
FGF	69	200	3.43e-66	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129381

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147791

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154816

Coding Region Coverage

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	T	5: 114,223,986		probably benign	Het
Adamts13	A	G	2: 26,996,583	E938G	possibly damaging	Het
Aox2	C	T	1: 58,287,743	T167I	possibly damaging	Het
Apba3	G	T	10: 81,273,073	A557S	probably benign	Het
Atad2b	T	C	12: 5,034,093	L1382P	probably damaging	Het
Atrn	C	T	2: 130,935,565	T178I	probably damaging	Het
B4galnt1	A	G	10: 127,166,761	S88G	probably benign	Het
Baz2b	T	C	2: 59,935,271	K887E	probably damaging	Het
Ccdc162	A	C	10: 41,569,887	F430V	probably damaging	Het
Cdc42bpb	T	A	12: 111,317,453		probably benign	Het
Chit1	A	G	1: 134,149,410	D317G	probably benign	Het
Cobl	G	T	11: 12,254,596	T620K	probably benign	Het
Creld1	T	C	6: 113,483,960	F20L	probably benign	Het
Csmd2	A	T	4: 128,559,947	D3475V	unknown	Het
Cyp3a57	A	G	5: 145,372,629	D259G	probably benign	Het
Dbnl	A	G	11: 5,797,142	Y224C	probably damaging	Het
Det1	A	T	7: 78,843,823	C144*	probably null	Het
Fbxo47	G	T	11: 97,856,160	A360D	probably damaging	Het
Frrs1	G	A	3: 116,885,239	G237R	probably damaging	Het
Gatsl2	T	C	5: 134,135,602	F134S	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Gm4788	G	A	1: 139,739,206	L444F	probably damaging	Het
Gm5862	A	C	5: 26,022,771	W41G	probably benign	Het
Gria2	T	C	3: 80,710,331	T372A	probably benign	Het
Hmcn2	A	T	2: 31,398,917	Q2246L	probably benign	Het
Ide	T	C	19: 37,272,164	M930V	unknown	Het
Kdm5a	T	C	6: 120,394,255		probably null	Het
Khnyn	A	G	14: 55,894,969	T625A	probably benign	Het
Lrrtm1	T	C	6: 77,244,186	F209L	possibly damaging	Het
Med13	C	A	11: 86,308,696		probably benign	Het
Myom2	A	G	8: 15,069,685	E147G	probably benign	Het
Myrip	T	A	9: 120,388,264	V88D	probably damaging	Het
Nbeal2	T	C	9: 110,631,414	H1784R	probably benign	Het
Nlrp4e	T	A	7: 23,320,830	C247*	probably null	Het
Nup54	G	A	5: 92,424,435	P252L	probably benign	Het
Olfr610	A	G	7: 103,506,796	I50T	possibly damaging	Het
Otoa	C	A	7: 121,105,968	N244K	probably damaging	Het
Pbrm1	G	A	14: 31,082,604	R960H	probably damaging	Het
Ptcd3	A	T	6: 71,898,427	N190K	probably damaging	Het
Rhobtb1	T	A	10: 69,270,304	L233H	probably damaging	Het
Sec24c	T	A	14: 20,689,689	F545I	probably damaging	Het
Slc6a15	T	C	10: 103,404,825		probably null	Het
Slitrk1	G	A	14: 108,911,239	A680V	probably benign	Het
Smpd1	C	T	7: 105,555,448	S178L	probably benign	Het
Spindoc	A	G	19: 7,382,677	L42P	probably damaging	Het
Tenm4	A	G	7: 96,895,212	E2145G	probably damaging	Het
Tmem144	G	T	3: 79,839,194	A18E	probably damaging	Het
Tmem213	A	T	6: 38,109,438	S10C	possibly damaging	Het
Trav6-3	A	T	14: 53,430,343	I102L	probably benign	Het
Trip11	T	G	12: 101,886,884	N483T	possibly damaging	Het
Unc13b	C	T	4: 43,239,385	R1056*	probably null	Het
Wdr27	T	G	17: 14,917,226	K433N	probably damaging	Het
Wls	C	A	3: 159,901,443	S189*	probably null	Het
Yeats2	A	G	16: 20,206,167	N706D	probably damaging	Het
Zbp1	A	G	2: 173,212,254	V158A	probably benign	Het
Zfp595	G	T	13: 67,317,783	H139N	possibly damaging	Het

Other mutations in Chrnb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Chrnb1	APN	11	69793916	missense	probably damaging	1.00
IGL01983:Chrnb1	APN	11	69795729	missense	probably benign	0.27
IGL02100:Chrnb1	APN	11	69793455	unclassified	probably benign
IGL02507:Chrnb1	APN	11	69785090	missense	probably damaging	1.00
IGL02814:Chrnb1	APN	11	69795680	missense	probably damaging	1.00
IGL02858:Chrnb1	APN	11	69785109	missense	possibly damaging	0.58
R0368:Chrnb1	UTSW	11	69784757	missense	probably damaging	1.00
R1728:Chrnb1	UTSW	11	69785762	missense	probably damaging	1.00
R1913:Chrnb1	UTSW	11	69793584	missense	possibly damaging	0.95
R1930:Chrnb1	UTSW	11	69792737	missense	possibly damaging	0.81
R2233:Chrnb1	UTSW	11	69795602	missense	probably damaging	0.98
R2234:Chrnb1	UTSW	11	69795602	missense	probably damaging	0.98
R3971:Chrnb1	UTSW	11	69792916	unclassified	probably benign
R4183:Chrnb1	UTSW	11	69787096	missense	possibly damaging	0.50
R4425:Chrnb1	UTSW	11	69786947	missense	probably damaging	1.00
R4822:Chrnb1	UTSW	11	69795675	missense	possibly damaging	0.55
R4983:Chrnb1	UTSW	11	69793978	missense	probably damaging	1.00
R5000:Chrnb1	UTSW	11	69787032	missense	probably damaging	0.96
R5378:Chrnb1	UTSW	11	69785181	missense	probably benign	0.00
R5396:Chrnb1	UTSW	11	69794153	missense	probably damaging	1.00
R5540:Chrnb1	UTSW	11	69795650	missense	probably benign	0.30
R5574:Chrnb1	UTSW	11	69793683	unclassified	probably benign
R5890:Chrnb1	UTSW	11	69792729	missense	possibly damaging	0.94
R5973:Chrnb1	UTSW	11	69795845	unclassified	probably benign
R6056:Chrnb1	UTSW	11	69786939	missense	probably damaging	1.00
R7466:Chrnb1	UTSW	11	69784650	missense	probably damaging	1.00
R7633:Chrnb1	UTSW	11	69792873	missense	probably damaging	1.00
R7664:Chrnb1	UTSW	11	69787024	missense	possibly damaging	0.80
R8266:Chrnb1	UTSW	11	69784621	makesense	probably null
Z1177:Chrnb1	UTSW	11	69794189	missense	possibly damaging	0.95

Posted On

2014-05-07