Mutagenetix > Incidental Mutation

Incidental Mutation 'R1913:Chrnb1'

214590

Institutional Source

Beutler Lab

Gene Symbol

Chrnb1

Ensembl Gene

ENSMUSG00000041189

Gene Name

cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)

Synonyms

AChR beta, Acrb, Achr-2

MMRRC Submission

039931-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.892) question?

Stock #

R1913 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69784036-69795943 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69793584 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 164 (N164S)

Ref Sequence

ENSEMBL: ENSMUSP00000047270 (fasta)

Gene Model

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

AlphaFold

P09690

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

possibly damaging
Transcript: ENSMUST00000045971
AA Change: N164S

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000047270
Gene: ENSMUSG00000041189
AA Change: N164S

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

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	T	G	5: 9,266,275 (GRCm38)	L2R	probably damaging	Het
Abca16	A	T	7: 120,541,240 (GRCm38)	I1588F	probably benign	Het
Abcc2	A	T	19: 43,807,244 (GRCm38)	T480S	probably benign	Het
Acnat1	A	G	4: 49,447,498 (GRCm38)	I361T	probably damaging	Het
Adamts10	A	T	17: 33,549,555 (GRCm38)	H869L	probably benign	Het
AF366264	T	A	8: 13,837,143 (GRCm38)	Q316L	probably benign	Het
Agpat5	T	C	8: 18,879,613 (GRCm38)	C253R	probably benign	Het
Agtrap	T	A	4: 148,083,977 (GRCm38)	H15L	probably damaging	Het
Ahnak	T	A	19: 9,007,922 (GRCm38)	V2190E	probably damaging	Het
Alx4	A	G	2: 93,675,387 (GRCm38)	E278G	probably damaging	Het
Amz2	T	C	11: 109,428,871 (GRCm38)	S28P	probably damaging	Het
Atr	T	A	9: 95,866,733 (GRCm38)	Y444N	probably benign	Het
Brdt	T	C	5: 107,348,613 (GRCm38)	I197T	probably benign	Het
Ccser1	G	T	6: 62,379,894 (GRCm38)	S772I	probably damaging	Het
Cdh16	T	C	8: 104,616,468 (GRCm38)	H657R	probably benign	Het
Ceacam5	A	T	7: 17,759,577 (GRCm38)	K842*	probably null	Het
Cep120	G	A	18: 53,723,286 (GRCm38)	T353I	probably benign	Het
Cse1l	T	C	2: 166,922,191 (GRCm38)	F123L	probably damaging	Het
Cul7	T	A	17: 46,663,190 (GRCm38)	L1467H	probably damaging	Het
Dcx	G	C	X: 143,923,103 (GRCm38)	L231V	probably damaging	Het
Dnah12	T	C	14: 26,792,264 (GRCm38)		probably null	Het
Dnah2	A	T	11: 69,464,930 (GRCm38)	M2227K	probably damaging	Het
Dnajc30	G	A	5: 135,064,332 (GRCm38)	A28T	probably benign	Het
Dnm1l	T	C	16: 16,329,966 (GRCm38)	T306A	probably benign	Het
Enpp3	C	A	10: 24,776,771 (GRCm38)	E763*	probably null	Het
Esyt3	T	C	9: 99,320,311 (GRCm38)	S516G	probably benign	Het
Exoc3	T	C	13: 74,182,316 (GRCm38)	Q498R	probably damaging	Het
Fbn2	T	A	18: 58,061,742 (GRCm38)	N1449I	probably damaging	Het
Fgb	T	C	3: 83,044,980 (GRCm38)	D194G	probably benign	Het
Fgd3	T	C	13: 49,263,848 (GRCm38)	D713G	possibly damaging	Het
Foxb1	T	A	9: 69,760,101 (GRCm38)	Y49F	possibly damaging	Het
Fpr3	A	G	17: 17,971,408 (GRCm38)	I314V	probably damaging	Het
Gfod1	A	T	13: 43,303,445 (GRCm38)	I18N	probably damaging	Het
Gm11492	T	C	11: 87,567,012 (GRCm38)	S71P	probably benign	Het
Gm5407	T	C	16: 49,296,920 (GRCm38)		noncoding transcript	Het
Gm7534	A	G	4: 134,192,675 (GRCm38)		probably null	Het
Gpr89	A	G	3: 96,875,633 (GRCm38)	F334L	possibly damaging	Het
Gucy2d	G	T	7: 98,443,847 (GRCm38)	V144F	probably benign	Het
H2-Bl	T	A	17: 36,081,016 (GRCm38)	K237M	probably damaging	Het
H2-M10.5	C	A	17: 36,774,768 (GRCm38)	P273H	probably damaging	Het
Hcn2	A	G	10: 79,730,943 (GRCm38)	M485V	probably benign	Het
Helz2	G	T	2: 181,233,750 (GRCm38)	S1650R	probably damaging	Het
Ifnar2	T	C	16: 91,404,170 (GRCm38)	V433A	probably benign	Het
Igsf21	T	A	4: 140,107,312 (GRCm38)	Y83F	probably benign	Het
Kcnk18	A	G	19: 59,235,058 (GRCm38)	I212V	possibly damaging	Het
Kcns2	T	C	15: 34,839,709 (GRCm38)	I406T	probably damaging	Het
Krt42	C	T	11: 100,267,249 (GRCm38)	V166M	possibly damaging	Het
Lama3	T	C	18: 12,495,279 (GRCm38)	M1476T	probably benign	Het
Lcor	A	G	19: 41,558,474 (GRCm38)	R166G	probably benign	Het
Mapt	C	T	11: 104,328,075 (GRCm38)	P354L	probably damaging	Het
Mep1b	A	T	18: 21,093,229 (GRCm38)	I383F	probably benign	Het
Mpzl1	C	A	1: 165,601,805 (GRCm38)	C222F	probably benign	Het
Mug2	T	C	6: 122,070,870 (GRCm38)	L780P	probably damaging	Het
Naip2	C	T	13: 100,152,157 (GRCm38)		probably null	Het
Ndufab1	T	C	7: 122,096,691 (GRCm38)	D41G	probably benign	Het
Ntn1	A	G	11: 68,213,185 (GRCm38)	C546R	probably damaging	Het
Olfr448	T	A	6: 42,896,753 (GRCm38)	F101I	probably damaging	Het
Pakap	A	G	4: 57,892,963 (GRCm38)	E880G	probably damaging	Het
Pde6b	A	G	5: 108,427,190 (GRCm38)	E639G	probably benign	Het
Phf10	T	C	17: 14,956,809 (GRCm38)	T83A	probably benign	Het
Phkb	T	A	8: 85,901,920 (GRCm38)	I186N	possibly damaging	Het
Pkhd1	A	G	1: 20,566,756 (GRCm38)		probably null	Het
Plxnd1	C	A	6: 115,978,017 (GRCm38)	A595S	possibly damaging	Het
Ppara	T	A	15: 85,801,099 (GRCm38)	H416Q	probably damaging	Het
Prodh	T	A	16: 18,081,027 (GRCm38)	D188V	probably damaging	Het
Psmd14	A	T	2: 61,785,456 (GRCm38)	K223M	possibly damaging	Het
Ptpn5	A	G	7: 47,078,868 (GRCm38)	M528T	possibly damaging	Het
Rassf9	G	A	10: 102,544,939 (GRCm38)	E59K	probably benign	Het
Rnf2	A	T	1: 151,476,185 (GRCm38)	L140H	probably damaging	Het
Scai	A	G	2: 39,080,081 (GRCm38)	F557S	probably damaging	Het
Sdk2	A	G	11: 113,856,726 (GRCm38)	S653P	possibly damaging	Het
Sec24c	A	G	14: 20,689,111 (GRCm38)	D534G	probably benign	Het
Serinc1	A	G	10: 57,519,465 (GRCm38)	V375A	probably benign	Het
Serpinb9f	C	T	13: 33,325,846 (GRCm38)	A7V	probably damaging	Het
Smco1	T	C	16: 32,273,882 (GRCm38)	S124P	probably damaging	Het
Smim23	C	A	11: 32,824,441 (GRCm38)	C26F	possibly damaging	Het
Sppl2c	T	A	11: 104,187,889 (GRCm38)	M505K	probably benign	Het
Sprr1b	C	A	3: 92,437,468 (GRCm38)	V34F	possibly damaging	Het
Sun1	G	A	5: 139,235,732 (GRCm38)		probably null	Het
Supt16	A	G	14: 52,178,135 (GRCm38)	L381P	possibly damaging	Het
Syne2	A	G	12: 75,899,246 (GRCm38)	D364G	possibly damaging	Het
Tax1bp1	G	T	6: 52,765,952 (GRCm38)	V775F	probably damaging	Het
Tial1	T	A	7: 128,444,659 (GRCm38)	I231F	probably damaging	Het
Tiam1	C	A	16: 89,798,694 (GRCm38)	V1300L	probably damaging	Het
Tmem132e	A	G	11: 82,443,417 (GRCm38)	T585A	probably damaging	Het
Tnni3k	C	T	3: 154,979,199 (GRCm38)	A165T	probably benign	Het
Tomm40	A	T	7: 19,710,961 (GRCm38)	I165N	probably damaging	Het
Tomt	T	C	7: 101,901,247 (GRCm38)	E104G	probably damaging	Het
Topaz1	T	C	9: 122,767,013 (GRCm38)	S950P	possibly damaging	Het
Traf3ip2	C	G	10: 39,625,940 (GRCm38)	P28R	probably benign	Het
Trim24	C	T	6: 37,957,815 (GRCm38)	P822S	probably damaging	Het
Upf3a	T	G	8: 13,792,108 (GRCm38)	Y175D	probably damaging	Het
Vars2	G	A	17: 35,666,922 (GRCm38)	P69S	probably benign	Het
Veph1	T	C	3: 66,244,555 (GRCm38)	Y151C	probably damaging	Het
Vmn2r11	T	A	5: 109,054,788 (GRCm38)	D141V	probably benign	Het
Vwa5b1	G	A	4: 138,592,020 (GRCm38)	Q442*	probably null	Het
Wdr17	T	A	8: 54,687,726 (GRCm38)	D197V	probably damaging	Het
Wdr70	G	T	15: 7,884,410 (GRCm38)	T586N	possibly damaging	Het
Wfdc18	G	A	11: 83,709,928 (GRCm38)	G52R	probably benign	Het
Zc3h6	T	C	2: 129,016,620 (GRCm38)	I857T	probably damaging	Het
Zfp318	TGAAGAAGAAGAAGAAGAAGAAGAAGAAG	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	17: 46,412,514 (GRCm38)		probably benign	Het
Zfp318	GAAGAA	GAAGAACAAGAA	17: 46,412,524 (GRCm38)		probably benign	Het
Zfp647	C	T	15: 76,911,951 (GRCm38)	V170I	probably benign	Het
Zfp871	T	C	17: 32,775,917 (GRCm38)	N76D	possibly damaging	Het
Zwilch	A	G	9: 64,160,952 (GRCm38)	Y194H	probably damaging	Het

Other mutations in Chrnb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Chrnb1	APN	11	69,793,916 (GRCm38)	missense	probably damaging	1.00
IGL01924:Chrnb1	APN	11	69,795,019 (GRCm38)	unclassified	probably benign
IGL01983:Chrnb1	APN	11	69,795,729 (GRCm38)	missense	probably benign	0.27
IGL02100:Chrnb1	APN	11	69,793,455 (GRCm38)	unclassified	probably benign
IGL02507:Chrnb1	APN	11	69,785,090 (GRCm38)	missense	probably damaging	1.00
IGL02814:Chrnb1	APN	11	69,795,680 (GRCm38)	missense	probably damaging	1.00
IGL02858:Chrnb1	APN	11	69,785,109 (GRCm38)	missense	possibly damaging	0.58
R0368:Chrnb1	UTSW	11	69,784,757 (GRCm38)	missense	probably damaging	1.00
R1728:Chrnb1	UTSW	11	69,785,762 (GRCm38)	missense	probably damaging	1.00
R1930:Chrnb1	UTSW	11	69,792,737 (GRCm38)	missense	possibly damaging	0.81
R2233:Chrnb1	UTSW	11	69,795,602 (GRCm38)	missense	probably damaging	0.98
R2234:Chrnb1	UTSW	11	69,795,602 (GRCm38)	missense	probably damaging	0.98
R3971:Chrnb1	UTSW	11	69,792,916 (GRCm38)	unclassified	probably benign
R4183:Chrnb1	UTSW	11	69,787,096 (GRCm38)	missense	possibly damaging	0.50
R4425:Chrnb1	UTSW	11	69,786,947 (GRCm38)	missense	probably damaging	1.00
R4822:Chrnb1	UTSW	11	69,795,675 (GRCm38)	missense	possibly damaging	0.55
R4983:Chrnb1	UTSW	11	69,793,978 (GRCm38)	missense	probably damaging	1.00
R5000:Chrnb1	UTSW	11	69,787,032 (GRCm38)	missense	probably damaging	0.96
R5378:Chrnb1	UTSW	11	69,785,181 (GRCm38)	missense	probably benign	0.00
R5396:Chrnb1	UTSW	11	69,794,153 (GRCm38)	missense	probably damaging	1.00
R5540:Chrnb1	UTSW	11	69,795,650 (GRCm38)	missense	probably benign	0.30
R5574:Chrnb1	UTSW	11	69,793,683 (GRCm38)	unclassified	probably benign
R5890:Chrnb1	UTSW	11	69,792,729 (GRCm38)	missense	possibly damaging	0.94
R5973:Chrnb1	UTSW	11	69,795,845 (GRCm38)	unclassified	probably benign
R6056:Chrnb1	UTSW	11	69,786,939 (GRCm38)	missense	probably damaging	1.00
R7466:Chrnb1	UTSW	11	69,784,650 (GRCm38)	missense	probably damaging	1.00
R7633:Chrnb1	UTSW	11	69,792,873 (GRCm38)	missense	probably damaging	1.00
R7664:Chrnb1	UTSW	11	69,787,024 (GRCm38)	missense	possibly damaging	0.80
R8266:Chrnb1	UTSW	11	69,784,621 (GRCm38)	makesense	probably null
R9124:Chrnb1	UTSW	11	69,794,231 (GRCm38)	missense	probably benign	0.31
Z1177:Chrnb1	UTSW	11	69,794,189 (GRCm38)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TAAGAGAACCTGCCTCTCAGCC -3'
(R):5'- AGCTACTCCCAATCCAGTGC -3'

Sequencing Primer
(F):5'- CTCTCAGCCTTGGATGTGAGAAC -3'
(R):5'- AATCCAGTGCCACCGTTC -3'

Posted On

2014-07-14