Mutagenetix > Incidental Mutation

Incidental Mutation 'R2233:Chrnb1'

240198

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

040234-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.871) question?

Stock #

R2233 (G1)

Quality Score

164

Status

Not validated

Chromosome

Chromosomal Location

69674862-69686742 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69686428 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 64 (I64N)

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

probably damaging
Transcript: ENSMUST00000045971
AA Change: I64N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000047270
Gene: ENSMUSG00000041189
AA Change: I64N

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	A	G	1: 63,584,671 (GRCm39)	I360V	probably benign	Het
Adarb1	A	G	10: 77,153,183 (GRCm39)	V322A	probably damaging	Het
Atad2b	T	G	12: 5,056,745 (GRCm39)	F867C	probably damaging	Het
Ccdc24	T	C	4: 117,727,113 (GRCm39)	K79R	possibly damaging	Het
Cfap44	A	G	16: 44,271,888 (GRCm39)	I1214V	probably benign	Het
Chrm4	A	G	2: 91,758,875 (GRCm39)	S428G	probably benign	Het
Crh	A	T	3: 19,748,096 (GRCm39)	M182K	probably damaging	Het
Dazap1	A	G	10: 80,113,433 (GRCm39)	K110E	possibly damaging	Het
Dhx16	T	C	17: 36,198,778 (GRCm39)	C737R	probably damaging	Het
Dst	A	G	1: 34,313,343 (GRCm39)	E6384G	probably damaging	Het
Dync1i2	C	T	2: 71,079,764 (GRCm39)	Q419*	probably null	Het
E2f4	T	A	8: 106,025,283 (GRCm39)	V121E	probably damaging	Het
Enah	G	A	1: 181,749,537 (GRCm39)	P415L	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fezf1	T	C	6: 23,246,002 (GRCm39)	T388A	probably damaging	Het
Gimap6	T	A	6: 48,681,418 (GRCm39)	H72L	possibly damaging	Het
Gm11149	A	G	9: 49,473,446 (GRCm39)		probably benign	Het
Gm12695	C	T	4: 96,612,266 (GRCm39)	R499Q	probably damaging	Het
Grhl1	A	G	12: 24,658,510 (GRCm39)	D385G	probably damaging	Het
Hyou1	C	T	9: 44,300,388 (GRCm39)	T855M	probably benign	Het
Igf1r	T	A	7: 67,861,828 (GRCm39)	N1129K	probably damaging	Het
Iglon5	T	C	7: 43,130,062 (GRCm39)	E34G	probably damaging	Het
Kcnab1	T	A	3: 65,226,888 (GRCm39)	V189D	probably damaging	Het
Kifap3	T	A	1: 163,683,634 (GRCm39)	D438E	probably benign	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrrc41	G	A	4: 115,953,582 (GRCm39)	R756Q	possibly damaging	Het
Lrrc49	A	T	9: 60,505,440 (GRCm39)	F538L	possibly damaging	Het
Nphp3	G	A	9: 103,914,575 (GRCm39)	R1052H	probably benign	Het
Nynrin	G	A	14: 56,109,524 (GRCm39)	V1544I	possibly damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or6z5	T	C	7: 6,477,441 (GRCm39)	S111P	possibly damaging	Het
Or9m1	G	A	2: 87,733,819 (GRCm39)	S67F	probably damaging	Het
Osbpl6	T	C	2: 76,417,113 (GRCm39)	F577L	probably damaging	Het
Otc	A	G	X: 10,169,606 (GRCm39)	Q216R	probably benign	Het
Ppp1r12a	A	G	10: 108,034,780 (GRCm39)	I108M	possibly damaging	Het
Prl7a1	C	A	13: 27,826,402 (GRCm39)		probably null	Het
Prss16	T	C	13: 22,193,579 (GRCm39)	D72G	possibly damaging	Het
Qrsl1	T	C	10: 43,772,092 (GRCm39)	K33E	probably benign	Het
Rabepk	A	T	2: 34,685,246 (GRCm39)	I58N	possibly damaging	Het
Ralgapa1	A	T	12: 55,763,856 (GRCm39)	H1403Q	probably benign	Het
Rhobtb3	C	A	13: 76,020,484 (GRCm39)	C606F	possibly damaging	Het
Rnf216	G	A	5: 143,076,681 (GRCm39)	H68Y	probably benign	Het
Scap	T	C	9: 110,210,661 (GRCm39)	C998R	probably damaging	Het
Scgb1b27	T	C	7: 33,721,249 (GRCm39)	Y46H	probably damaging	Het
Sel1l2	T	C	2: 140,086,085 (GRCm39)	Y502C	probably damaging	Het
Sf3a2	G	T	10: 80,638,663 (GRCm39)	A95S	probably benign	Het
Sis	A	T	3: 72,820,527 (GRCm39)	F1412L	probably benign	Het
Slc25a29	A	T	12: 108,801,587 (GRCm39)	C9S	possibly damaging	Het
Snap91	T	C	9: 86,680,624 (GRCm39)	T427A	probably benign	Het
St3gal6	A	G	16: 58,293,897 (GRCm39)	F211L	probably damaging	Het
Stab1	G	A	14: 30,883,837 (GRCm39)	S240F	probably benign	Het
Sun3	T	A	11: 8,973,371 (GRCm39)	K109*	probably null	Het
Syne1	T	C	10: 4,991,484 (GRCm39)	N8410S	probably benign	Het
Tbx18	G	T	9: 87,606,403 (GRCm39)	S247R	probably damaging	Het
Tenm3	T	C	8: 48,729,204 (GRCm39)	I1601V	probably benign	Het
Tmem135	T	C	7: 88,803,282 (GRCm39)	N297S	probably damaging	Het
Tnk1	C	T	11: 69,746,017 (GRCm39)		probably null	Het
Txnl4b	A	G	8: 110,295,551 (GRCm39)		probably benign	Het
Uck1	T	C	2: 32,148,315 (GRCm39)	D167G	probably damaging	Het
Vmn2r124	A	T	17: 18,269,927 (GRCm39)	H61L	possibly damaging	Het
Xylt2	C	T	11: 94,560,822 (GRCm39)	V239M	possibly damaging	Het
Zmpste24	T	C	4: 120,955,162 (GRCm39)	D12G	probably benign	Het
Zscan25	A	G	5: 145,220,502 (GRCm39)	Y99C	probably 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
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
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'- GTACCTATCATAGAGGCCTCGC -3'
(R):5'- TCTCCAAGAGGCAGTGATGAG -3'

Sequencing Primer
(F):5'- GCCTCGCCCATGAACTAG -3'
(R):5'- ATGAGCAATGGTCACGGCC -3'

Posted On

2014-10-15