Mutagenetix > Incidental Mutation

Incidental Mutation 'R4983:Chrnb1'

385747

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

042577-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.871) question?

Stock #

R4983 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69674862-69686742 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69684804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 123 (F123S)

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: F123S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000047270
Gene: ENSMUSG00000041189
AA Change: F123S

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

Meta Mutation Damage Score

0.8366

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (103/106)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	T	G	19: 42,041,515 (GRCm39)	S215R	possibly damaging	Het
Abcc9	T	C	6: 142,627,867 (GRCm39)	M388V	probably benign	Het
Acbd6	A	C	1: 155,477,275 (GRCm39)	T154P	probably benign	Het
Ago1	T	C	4: 126,347,447 (GRCm39)	D434G	probably damaging	Het
Ankib1	A	T	5: 3,819,652 (GRCm39)	M89K	probably benign	Het
Arap2	A	T	5: 62,833,868 (GRCm39)	H866Q	probably damaging	Het
Armh3	T	C	19: 45,939,146 (GRCm39)	T335A	probably benign	Het
Capn12	A	T	7: 28,589,795 (GRCm39)	H622L	probably benign	Het
Capns2	T	G	8: 93,628,530 (GRCm39)	F140V	probably damaging	Het
Catsper1	T	G	19: 5,385,991 (GRCm39)	F75V	probably benign	Het
Ccdc24	T	C	4: 117,729,297 (GRCm39)	N16S	probably benign	Het
Cdkn2aip	A	T	8: 48,165,964 (GRCm39)	L114Q	probably damaging	Het
Cenpe	T	A	3: 134,940,689 (GRCm39)	S649R	probably damaging	Het
Chgb	A	T	2: 132,635,602 (GRCm39)	R515W	probably damaging	Het
Copz2	A	T	11: 96,748,377 (GRCm39)		probably null	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Daw1	C	A	1: 83,165,719 (GRCm39)	A178E	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Epb41l5	T	C	1: 119,482,801 (GRCm39)	D629G	probably benign	Het
Erap1	A	G	13: 74,838,829 (GRCm39)	E925G	probably benign	Het
Exoc7	A	C	11: 116,180,095 (GRCm39)	F657V	probably damaging	Het
Fam210b	G	C	2: 172,187,585 (GRCm39)	A2P	probably damaging	Homo
Fry	A	G	5: 150,321,719 (GRCm39)	E1018G	probably damaging	Het
Galc	A	T	12: 98,209,027 (GRCm39)	L15*	probably null	Het
Gm11232	T	A	4: 71,675,138 (GRCm39)	K121N	possibly damaging	Het
Hectd1	A	T	12: 51,831,045 (GRCm39)	D931E	probably benign	Het
Hecw2	T	C	1: 53,871,830 (GRCm39)	H1372R	probably benign	Het
Ighv3-2	T	A	12: 113,997,606 (GRCm39)		noncoding transcript	Het
Kcns2	T	G	15: 34,839,751 (GRCm39)	S371R	probably damaging	Het
Kif23	T	C	9: 61,843,985 (GRCm39)	K175E	probably benign	Het
Kmt2c	G	A	5: 25,500,509 (GRCm39)	R436W	possibly damaging	Het
Lama5	A	G	2: 179,835,242 (GRCm39)	S1317P	probably benign	Het
Lce1e	T	C	3: 92,615,135 (GRCm39)	S71G	unknown	Het
Lrrc37a	T	A	11: 103,388,444 (GRCm39)	E2327V	unknown	Het
Map3k20	A	G	2: 72,232,411 (GRCm39)	M356V	probably benign	Het
Med12l	C	T	3: 59,169,350 (GRCm39)	A1580V	probably damaging	Het
Metap2	G	T	10: 93,725,462 (GRCm39)	T30K	possibly damaging	Het
Mysm1	T	A	4: 94,861,207 (GRCm39)	T53S	probably benign	Het
Nasp	A	T	4: 116,459,382 (GRCm39)	D717E	probably damaging	Het
Ndnf	G	A	6: 65,680,555 (GRCm39)	R278H	possibly damaging	Het
Neb	A	T	2: 52,106,273 (GRCm39)	N4205K	probably damaging	Het
Nebl	A	T	2: 17,380,082 (GRCm39)	I764N	possibly damaging	Het
Nucb1	A	G	7: 45,148,313 (GRCm39)	Y131H	probably damaging	Het
Or14c39	A	C	7: 86,343,687 (GRCm39)	T8P	probably benign	Het
Or1e22	A	G	11: 73,377,623 (GRCm39)	I9T	probably benign	Het
Or5l14	G	T	2: 87,793,042 (GRCm39)	H65N	probably benign	Het
Oscp1	T	A	4: 125,970,555 (GRCm39)	C115S	probably benign	Het
Paip2	C	T	18: 35,746,412 (GRCm39)	R59C	possibly damaging	Het
Pate10	T	G	9: 35,653,465 (GRCm39)	F90V	probably benign	Het
Pcdhga4	G	A	18: 37,819,572 (GRCm39)	D374N	probably damaging	Het
Pcolce	G	T	5: 137,603,936 (GRCm39)		probably benign	Het
Pcyox1l	T	C	18: 61,832,468 (GRCm39)	E193G	probably damaging	Het
Pde6b	A	T	5: 108,573,196 (GRCm39)	Q522L	probably benign	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Phf11a	A	G	14: 59,521,887 (GRCm39)	F95L	probably benign	Het
Pja2	A	C	17: 64,616,053 (GRCm39)	S281A	probably benign	Het
Plekhm2	A	G	4: 141,361,687 (GRCm39)	F272S	probably damaging	Het
Pom121l2	T	C	13: 22,167,984 (GRCm39)	S752P	probably benign	Het
Ppl	T	C	16: 4,906,582 (GRCm39)	T1238A	possibly damaging	Het
Prmt7	A	G	8: 106,976,995 (GRCm39)	Y569C	probably damaging	Het
Prss37	G	A	6: 40,493,070 (GRCm39)	T132I	probably benign	Het
Psmf1	A	T	2: 151,571,377 (GRCm39)		probably benign	Het
Ptprj	A	C	2: 90,290,876 (GRCm39)	I528S	probably damaging	Het
Reg1	A	G	6: 78,405,196 (GRCm39)	T140A	possibly damaging	Het
Rtn4	A	G	11: 29,657,217 (GRCm39)	N457S	probably benign	Het
Rusf1	C	T	7: 127,875,645 (GRCm39)		probably benign	Het
Scn9a	T	C	2: 66,396,614 (GRCm39)	K93R	probably benign	Het
Sec16a	A	G	2: 26,329,531 (GRCm39)	V828A	probably benign	Het
Sec23b	T	A	2: 144,423,873 (GRCm39)	D507E	probably benign	Het
Sirt4	A	T	5: 115,620,850 (GRCm39)	F107L	probably benign	Het
Slc14a2	A	T	18: 78,193,616 (GRCm39)	L862Q	probably damaging	Het
Slc16a4	T	C	3: 107,208,176 (GRCm39)	S229P	probably benign	Het
Slc37a3	A	T	6: 39,329,651 (GRCm39)	C185*	probably null	Het
Slc5a2	A	T	7: 127,870,982 (GRCm39)	*154C	probably null	Het
Snx17	A	G	5: 31,353,138 (GRCm39)	S42G	possibly damaging	Het
Tgm6	T	C	2: 129,983,113 (GRCm39)	V234A	probably damaging	Het
Thbs4	A	G	13: 92,927,207 (GRCm39)	M94T	probably benign	Het
Thtpa	A	G	14: 55,309,605 (GRCm39)		probably benign	Het
Tie1	T	C	4: 118,340,952 (GRCm39)	E343G	probably damaging	Het
Tmem145	A	G	7: 25,008,027 (GRCm39)	I238V	probably benign	Het
Tmprss11f	T	C	5: 86,685,858 (GRCm39)	S170G	probably benign	Het
Tnk2	T	A	16: 32,499,283 (GRCm39)	D865E	probably damaging	Het
Ttll8	T	C	15: 88,809,785 (GRCm39)	E337G	probably benign	Het
Ttn	G	A	2: 76,697,790 (GRCm39)		probably benign	Het
Tubgcp6	T	C	15: 88,990,494 (GRCm39)	E710G	probably damaging	Het
Txndc2	T	A	17: 65,945,055 (GRCm39)	H374L	probably benign	Het
Unc80	G	T	1: 66,713,891 (GRCm39)		probably null	Het
Vmn2r23	G	A	6: 123,710,308 (GRCm39)	C537Y	probably damaging	Het
Vmn2r45	A	G	7: 8,486,116 (GRCm39)	F391L	probably damaging	Het
Vstm4	A	T	14: 32,641,202 (GRCm39)	T262S	probably benign	Het
Zfp180	C	T	7: 23,805,503 (GRCm39)	R641C	probably damaging	Het
Zfp979	A	T	4: 147,698,371 (GRCm39)	S113T	possibly damaging	Het
Zswim4	C	T	8: 84,953,296 (GRCm39)		probably null	Het
Zswim5	T	A	4: 116,842,883 (GRCm39)	M876K	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
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'- ATGGCAGGCAACCTCTGAAG -3'
(R):5'- GGTCTTTCTAAAGCCTGGGC -3'

Sequencing Primer
(F):5'- CAGGCAACCTCTGAAGAAGGC -3'
(R):5'- AAAGCCTGGGCGGGGTTG -3'

Posted On

2016-05-10