Mutagenetix > Incidental Mutation

Incidental Mutation 'R5890:Chrnb1'

457107

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

044091-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.871) question?

Stock #

R5890 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69674862-69686742 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69683555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 264 (I264F)

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: I264F

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000047270
Gene: ENSMUSG00000041189
AA Change: I264F

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: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,550,554 (GRCm39)		probably null	Het
Acsm3	C	A	7: 119,374,457 (GRCm39)	T303N	probably benign	Het
Adamts13	A	T	2: 26,876,603 (GRCm39)	R506W	probably damaging	Het
Adck5	C	T	15: 76,477,785 (GRCm39)	T166M	probably damaging	Het
Adcy8	T	A	15: 64,687,266 (GRCm39)	I413F	probably damaging	Het
Adgrl2	A	T	3: 148,564,811 (GRCm39)	D252E	probably damaging	Het
Aldh16a1	T	A	7: 44,793,969 (GRCm39)	T636S	probably benign	Het
Ampd1	C	A	3: 102,997,391 (GRCm39)	F264L	probably damaging	Het
Arhgap17	T	C	7: 122,885,981 (GRCm39)		probably benign	Het
Babam2	A	G	5: 32,222,151 (GRCm39)		probably benign	Het
Bltp2	C	T	11: 78,164,096 (GRCm39)	Q40*	probably null	Het
Bod1l	T	A	5: 41,977,921 (GRCm39)	E1131V	probably benign	Het
Cbs	C	T	17: 31,832,193 (GRCm39)	V553M	probably damaging	Het
Cd72	T	C	4: 43,454,475 (GRCm39)	K18R	probably damaging	Het
Cep89	A	G	7: 35,128,587 (GRCm39)	Y580C	probably damaging	Het
Cntf	A	G	19: 12,741,357 (GRCm39)	W168R	probably damaging	Het
Cxxc1	T	A	18: 74,354,237 (GRCm39)	D648E	possibly damaging	Het
Cyp2c68	A	T	19: 39,700,936 (GRCm39)	L294Q	probably damaging	Het
Dab2ip	T	C	2: 35,605,414 (GRCm39)	S532P	probably damaging	Het
Defb3	G	A	8: 19,345,200 (GRCm39)	C52Y	probably damaging	Het
Dennd5a	T	G	7: 109,533,428 (GRCm39)	E114A	probably benign	Het
Dnah12	T	C	14: 26,428,039 (GRCm39)	F222L	probably benign	Het
Dock9	A	C	14: 121,905,820 (GRCm39)		probably null	Het
Fras1	A	T	5: 96,793,807 (GRCm39)	H1043L	probably benign	Het
Gamt	C	A	10: 80,095,741 (GRCm39)	R63L	possibly damaging	Het
Gm1527	A	G	3: 28,969,544 (GRCm39)	H298R	probably benign	Het
Gphb5	C	T	12: 75,462,596 (GRCm39)		probably null	Het
Greb1	A	T	12: 16,783,422 (GRCm39)	V104D	possibly damaging	Het
Hck	A	G	2: 152,970,996 (GRCm39)	D86G	probably damaging	Het
Jhy	T	A	9: 40,833,958 (GRCm39)	K321*	probably null	Het
Kcna5	C	T	6: 126,511,699 (GRCm39)	R143H	probably damaging	Het
Kif19a	G	T	11: 114,680,264 (GRCm39)	W867L	possibly damaging	Het
Map3k4	G	A	17: 12,490,303 (GRCm39)	A376V	probably damaging	Het
Mars1	A	T	10: 127,133,914 (GRCm39)	M661K	probably benign	Het
Mecp2	C	T	X: 73,079,043 (GRCm39)	V496M	probably damaging	Het
Mfsd2b	A	T	12: 4,917,651 (GRCm39)	C132S	probably damaging	Het
Mfsd4a	T	C	1: 131,966,666 (GRCm39)	Y356C	probably damaging	Het
Mif4gd	G	T	11: 115,500,188 (GRCm39)	A89E	probably benign	Het
Mkln1	A	T	6: 31,467,482 (GRCm39)	E593D	probably benign	Het
Mlh1	G	T	9: 111,057,563 (GRCm39)	N749K	possibly damaging	Het
Mrgprb2	T	A	7: 48,201,707 (GRCm39)	*339C	probably null	Het
Nphp4	T	C	4: 152,631,536 (GRCm39)	V812A	probably benign	Het
Nrcam	G	T	12: 44,623,554 (GRCm39)	V1048L	probably benign	Het
Obsl1	G	A	1: 75,470,503 (GRCm39)	A856V	probably damaging	Het
Osgepl1	T	A	1: 53,357,326 (GRCm39)	F163I	probably damaging	Het
Pcdha6	C	A	18: 37,102,121 (GRCm39)	T438K	possibly damaging	Het
Pcdhb20	A	T	18: 37,638,286 (GRCm39)	M271L	probably benign	Het
Phip	T	C	9: 82,789,005 (GRCm39)	T770A	probably benign	Het
Ppm1d	A	G	11: 85,217,734 (GRCm39)	T166A	probably damaging	Het
Ptprf	A	T	4: 118,081,932 (GRCm39)	I1102K	probably benign	Het
Sbsn	T	C	7: 30,452,692 (GRCm39)	V569A	possibly damaging	Het
Skida1	T	A	2: 18,050,814 (GRCm39)		probably benign	Het
Smg1	T	A	7: 117,789,809 (GRCm39)		probably benign	Het
Sorcs2	A	G	5: 36,386,535 (GRCm39)	Y168H	probably damaging	Het
Sufu	A	T	19: 46,443,172 (GRCm39)		probably null	Het
Tbc1d24	A	T	17: 24,404,500 (GRCm39)	W215R	probably damaging	Het
Tenm4	T	C	7: 96,552,067 (GRCm39)	L2502P	probably damaging	Het
Tgm4	A	T	9: 122,890,703 (GRCm39)	E10V	probably damaging	Het
Trip11	T	C	12: 101,852,231 (GRCm39)	E611G	probably damaging	Het
Ttn	C	A	2: 76,540,243 (GRCm39)	A34248S	possibly damaging	Het
Ube3a	T	A	7: 58,921,776 (GRCm39)	N49K	probably damaging	Het
Ube3c	A	G	5: 29,863,290 (GRCm39)	D855G	possibly damaging	Het
Ugt8a	A	G	3: 125,669,202 (GRCm39)	S301P	probably benign	Het
Wdfy4	T	A	14: 32,824,534 (GRCm39)	N1295I	possibly damaging	Het
Wdr47	G	T	3: 108,517,328 (GRCm39)	G43C	probably damaging	Het
Wdtc1	A	C	4: 133,021,673 (GRCm39)	L601W	unknown	Het
Zfp236	A	G	18: 82,658,276 (GRCm39)	F614S	possibly damaging	Het
Zfp637	T	A	6: 117,822,047 (GRCm39)	D58E	possibly damaging	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
R4425:Chrnb1	UTSW	11	69,677,773 (GRCm39)	missense	probably damaging	1.00
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
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'- TGGCCTGGAACTCAAAGACC -3'
(R):5'- TCTCCCTCCTCCAGAGAATG -3'

Sequencing Primer
(F):5'- TGGAACTCAAAGACCTGCCTG -3'
(R):5'- AGAATGGCCAATGGGAGATTATC -3'

Posted On

2017-02-15