Mutagenetix > Incidental Mutation

Incidental Mutation 'R8266:Chrnb1'

639644

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

067691-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.871) question?

Stock #

R8266 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69674862-69686742 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 69675447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 502 (*502W)

Ref Sequence

ENSEMBL: ENSMUSP00000047270 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045971] [ENSMUST00000108638] [ENSMUST00000108639] [ENSMUST00000108640] [ENSMUST00000108642]

AlphaFold

P09690

Predicted Effect

probably null
Transcript: ENSMUST00000045971
AA Change: *502W

SMART Domains

Protein: ENSMUSP00000047270
Gene: ENSMUSG00000041189
AA Change: *502W

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: ENSMUST00000108638

SMART Domains

Protein: ENSMUSP00000104278
Gene: ENSMUSG00000018750

Domain	Start	End	E-Value	Type
BTB	30	166	2e-15	SMART
ZnF_C2H2	210	230	1.91e1	SMART
low complexity region	240	261	N/A	INTRINSIC
low complexity region	274	283	N/A	INTRINSIC
ZnF_C2H2	285	307	1.53e-1	SMART
ZnF_C2H2	313	335	1.91e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108639

SMART Domains

Protein: ENSMUSP00000104279
Gene: ENSMUSG00000018750

Domain	Start	End	E-Value	Type
BTB	30	166	2e-15	SMART
ZnF_C2H2	210	230	1.91e1	SMART
low complexity region	240	261	N/A	INTRINSIC
low complexity region	274	283	N/A	INTRINSIC
ZnF_C2H2	285	307	1.53e-1	SMART
ZnF_C2H2	313	335	1.91e1	SMART
ZnF_C2H2	341	364	5.81e-2	SMART
low complexity region	422	445	N/A	INTRINSIC
low complexity region	461	482	N/A	INTRINSIC
low complexity region	485	532	N/A	INTRINSIC
low complexity region	551	568	N/A	INTRINSIC
coiled coil region	601	637	N/A	INTRINSIC
low complexity region	650	662	N/A	INTRINSIC
low complexity region	664	673	N/A	INTRINSIC
ZnF_C2H2	700	722	3.78e-1	SMART
ZnF_C2H2	739	761	6.23e-2	SMART
low complexity region	799	820	N/A	INTRINSIC
low complexity region	947	961	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108640

SMART Domains

Protein: ENSMUSP00000104280
Gene: ENSMUSG00000018750

Domain	Start	End	E-Value	Type
BTB	30	166	2e-15	SMART
ZnF_C2H2	210	230	1.91e1	SMART
low complexity region	240	261	N/A	INTRINSIC
low complexity region	274	283	N/A	INTRINSIC
ZnF_C2H2	285	307	1.53e-1	SMART
ZnF_C2H2	313	335	1.91e1	SMART
ZnF_C2H2	341	364	5.81e-2	SMART
low complexity region	422	445	N/A	INTRINSIC
low complexity region	461	482	N/A	INTRINSIC
low complexity region	485	532	N/A	INTRINSIC
low complexity region	551	568	N/A	INTRINSIC
coiled coil region	601	637	N/A	INTRINSIC
low complexity region	650	662	N/A	INTRINSIC
low complexity region	664	673	N/A	INTRINSIC
ZnF_C2H2	700	722	3.78e-1	SMART
ZnF_C2H2	739	761	6.23e-2	SMART
low complexity region	799	820	N/A	INTRINSIC
low complexity region	947	961	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108642

SMART Domains

Protein: ENSMUSP00000104282
Gene: ENSMUSG00000018750

Domain	Start	End	E-Value	Type
BTB	30	166	2e-15	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

97% (57/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	A	2: 30,691,254 (GRCm39)	N106Y	possibly damaging	Het
A630073D07Rik	C	T	6: 132,604,380 (GRCm39)	D22N	probably null	Het
Abcf2	CAT	CATAAT	5: 24,781,589 (GRCm39)		probably benign	Het
Ago3	T	A	4: 126,270,721 (GRCm39)	K258*	probably null	Het
AW146154	G	A	7: 41,130,592 (GRCm39)	R175*	probably null	Het
Bmp8a	G	A	4: 123,209,626 (GRCm39)	T354I	probably benign	Het
C7	T	A	15: 5,037,141 (GRCm39)	D579V	probably damaging	Het
Cacna1a	A	G	8: 85,285,848 (GRCm39)	N831S	probably damaging	Het
Ccpg1	G	A	9: 72,913,001 (GRCm39)	R179H	probably damaging	Het
Cep290	A	G	10: 100,395,533 (GRCm39)	K2114E	probably benign	Het
Cfap20dc	G	A	14: 8,482,599 (GRCm38)	Q525*	probably null	Het
Col16a1	G	A	4: 129,959,224 (GRCm39)	V657M	unknown	Het
Crem	A	T	18: 3,309,535 (GRCm39)		probably benign	Het
Cyp3a25	A	T	5: 145,929,796 (GRCm39)	V191E	probably damaging	Het
Dmxl1	T	C	18: 49,976,878 (GRCm39)	I80T	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Exoc6	A	G	19: 37,565,497 (GRCm39)	D191G	probably benign	Het
F5	G	T	1: 164,012,693 (GRCm39)		probably null	Het
Foxf2	AGCCTCCTTACTCG	AGCCTCCTTACTCGCCTCCTTACTCG	13: 31,810,361 (GRCm39)		probably benign	Het
Fuca2	T	A	10: 13,388,633 (GRCm39)		probably benign	Het
Gm13102	A	T	4: 143,835,682 (GRCm39)	D450V	probably damaging	Het
Gm527	T	C	12: 64,967,719 (GRCm39)	L47P	probably damaging	Het
Gm5849	T	C	3: 90,685,158 (GRCm39)	E9G	probably damaging	Het
Grik1	A	G	16: 87,744,867 (GRCm39)	Y376H	probably benign	Het
Hrob	T	A	11: 102,153,046 (GRCm39)	V569E	possibly damaging	Het
Isl2	A	G	9: 55,451,408 (GRCm39)	Q187R	probably benign	Het
Kat6b	C	T	14: 21,566,913 (GRCm39)		probably benign	Het
Lpar3	C	T	3: 145,946,385 (GRCm39)	T21I	probably benign	Het
Map4k4	A	G	1: 40,050,813 (GRCm39)	T759A	possibly damaging	Het
Map7d1	G	A	4: 126,132,353 (GRCm39)	S273L	probably damaging	Het
Mcm3ap	A	T	10: 76,312,414 (GRCm39)	K498*	probably null	Het
Med13l	T	G	5: 118,880,174 (GRCm39)	S1089A	probably damaging	Het
Mybphl	T	C	3: 108,284,676 (GRCm39)	Y308H	probably damaging	Het
Or2o1	T	A	11: 49,051,352 (GRCm39)	Y170*	probably null	Het
Or51ai2	T	C	7: 103,586,746 (GRCm39)	V53A	probably damaging	Het
Pde6a	T	A	18: 61,391,284 (GRCm39)	V543E	probably damaging	Het
Pdilt	C	T	7: 119,088,604 (GRCm39)	D466N	probably benign	Het
Pole	T	C	5: 110,442,786 (GRCm39)	V313A	probably damaging	Het
Ppfia1	T	C	7: 144,068,231 (GRCm39)	R439G	possibly damaging	Het
Reg1	T	A	6: 78,404,342 (GRCm39)	V72E	possibly damaging	Het
Reln	T	A	5: 22,223,085 (GRCm39)	I983F	possibly damaging	Het
Rnft2	T	A	5: 118,375,623 (GRCm39)	D42V	possibly damaging	Het
Rps6ka1	A	G	4: 133,590,995 (GRCm39)	Y350H	probably damaging	Het
Sec61a2	A	G	2: 5,881,650 (GRCm39)		probably null	Het
Septin2	T	C	1: 93,429,248 (GRCm39)	V239A	possibly damaging	Het
Sigirr	T	C	7: 140,671,662 (GRCm39)	T374A	unknown	Het
Six4	T	A	12: 73,155,423 (GRCm39)	I507F	possibly damaging	Het
Ska1	T	C	18: 74,337,412 (GRCm39)	I45V	probably benign	Het
Spink2	T	G	5: 77,359,213 (GRCm39)	R3S	unknown	Het
Stox2	C	T	8: 47,645,060 (GRCm39)	G800D	probably damaging	Het
Tmem121b	T	C	6: 120,469,193 (GRCm39)	E508G	probably damaging	Het
Tmx4	T	C	2: 134,481,461 (GRCm39)	Y154C	unknown	Het
Usp34	T	A	11: 23,436,810 (GRCm39)		probably benign	Het
Vmn2r27	A	G	6: 124,168,937 (GRCm39)	V731A	probably benign	Het
Wdr72	A	T	9: 74,050,774 (GRCm39)	M89L	probably damaging	Het
Xirp2	A	T	2: 67,338,918 (GRCm39)	K386N	probably damaging	Het
Zfp113	C	T	5: 138,148,881 (GRCm39)	V88M	probably damaging	Het
Zfp609	G	T	9: 65,610,996 (GRCm39)	R656S	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
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
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'- TTCACTAGAGATCTAAGCTGTGAC -3'
(R):5'- ACAATACCTTGGCAGAAAACTG -3'

Sequencing Primer
(F):5'- GTCTGTGATTCCAACAATTGCTAGGC -3'
(R):5'- TACCTTGGCAGAAAACTGAAAGG -3'

Posted On

2020-07-28