Mutagenetix > Incidental Mutation

Incidental Mutation 'R8399:Chrnb4'

647775

Institutional Source

Beutler Lab

Gene Symbol

Chrnb4

Ensembl Gene

ENSMUSG00000035200

Gene Name

cholinergic receptor, nicotinic, beta polypeptide 4

Synonyms

Acrb-4, Acrb4

MMRRC Submission

067762-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R8399 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54935438-54956063 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 54951107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 52 (L52R)

Ref Sequence

ENSEMBL: ENSMUSP00000034854 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034854]

AlphaFold

Q8R493

Predicted Effect

probably benign
Transcript: ENSMUST00000034854
AA Change: L52R

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000034854
Gene: ENSMUSG00000035200
AA Change: L52R

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	26	231	3.2e-70	PFAM
Pfam:Neur_chan_memb	238	481	6.1e-88	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in hyperplasia of the bladder and altered bladder contractility. Mutant mice also exhibit a resistance to nicotine-induced seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,637,289 (GRCm39)	V3384D	possibly damaging	Het
Apba3	C	A	10: 81,104,832 (GRCm39)	T35N	probably benign	Het
Bcl6	T	C	16: 23,791,698 (GRCm39)	M219V	probably benign	Het
Bco2	T	A	9: 50,452,418 (GRCm39)	T217S	probably benign	Het
C1s1	C	T	6: 124,512,252 (GRCm39)	V277I	probably benign	Het
Ccdc162	T	A	10: 41,415,517 (GRCm39)	R2149W	probably damaging	Het
Cers6	T	C	2: 68,692,115 (GRCm39)	F46L	probably benign	Het
Chpf	T	C	1: 75,452,864 (GRCm39)	I359V	probably benign	Het
Cox6a1	T	C	5: 115,483,958 (GRCm39)	T95A	probably damaging	Het
Def8	T	A	8: 124,182,238 (GRCm39)	Y197*	probably null	Het
Dmbt1	C	G	7: 130,684,317 (GRCm39)	D778E	unknown	Het
Dnaaf3	C	T	7: 4,526,936 (GRCm39)		probably null	Het
Dnm1l	T	A	16: 16,139,536 (GRCm39)	H484L	probably damaging	Het
Eml1	G	A	12: 108,504,390 (GRCm39)	S783N	possibly damaging	Het
Frmd4a	T	C	2: 4,577,244 (GRCm39)	S367P	probably damaging	Het
Hck	A	C	2: 152,980,237 (GRCm39)	K355N	probably damaging	Het
Hexim2	G	T	11: 103,029,329 (GRCm39)	R127L	probably damaging	Het
Hivep2	T	C	10: 14,008,178 (GRCm39)	L1592P	possibly damaging	Het
Htr1d	G	A	4: 136,170,686 (GRCm39)	G305E	probably damaging	Het
Ifi207	G	A	1: 173,557,844 (GRCm39)	S298L	unknown	Het
Ighv1-11	A	G	12: 114,576,047 (GRCm39)	V56A	possibly damaging	Het
Ighv7-1	G	A	12: 113,860,532 (GRCm39)	T12I	unknown	Het
Kctd14	T	C	7: 97,106,811 (GRCm39)	L22P	probably damaging	Het
Klra17	T	C	6: 129,851,900 (GRCm39)		probably benign	Het
Kndc1	C	T	7: 139,493,434 (GRCm39)	R467W	probably damaging	Het
Maf	T	A	8: 116,433,251 (GRCm39)	I118F	unknown	Het
Mppe1	T	C	18: 67,358,946 (GRCm39)	T341A	probably benign	Het
Mtmr2	T	A	9: 13,703,363 (GRCm39)	V186E	probably benign	Het
Nedd9	G	T	13: 41,471,950 (GRCm39)	Y176*	probably null	Het
Omd	A	G	13: 49,743,345 (GRCm39)	I132V	possibly damaging	Het
Or12e10	A	C	2: 87,640,568 (GRCm39)	M135L	probably damaging	Het
Or4a39	T	C	2: 89,237,028 (GRCm39)	T132A	probably benign	Het
Pcnx4	T	A	12: 72,620,985 (GRCm39)	M935K	probably benign	Het
Pecr	G	A	1: 72,306,624 (GRCm39)	T219I	probably benign	Het
Pkd1l3	C	T	8: 110,350,520 (GRCm39)	P455L	possibly damaging	Het
Plcg2	T	C	8: 118,323,101 (GRCm39)	Y719H	probably damaging	Het
Plk4	C	T	3: 40,763,265 (GRCm39)	R479*	probably null	Het
Pms1	T	A	1: 53,307,091 (GRCm39)		probably null	Het
Raph1	C	T	1: 60,528,477 (GRCm39)	S928N	unknown	Het
Rtp4	G	T	16: 23,339,164 (GRCm39)		probably benign	Het
Skor1	C	T	9: 63,052,440 (GRCm39)	V510I	possibly damaging	Het
Smg1	T	C	7: 117,789,794 (GRCm39)	T699A	unknown	Het
Tcp11l1	T	C	2: 104,515,720 (GRCm39)	D381G	probably benign	Het
Tnik	T	A	3: 28,548,159 (GRCm39)	M56K	unknown	Het
Trappc9	G	A	15: 72,924,131 (GRCm39)	R204C	probably damaging	Het
Trmt10b	A	T	4: 45,305,870 (GRCm39)	M184L	possibly damaging	Het
Vmn1r224	T	A	17: 20,640,011 (GRCm39)	I196N	probably damaging	Het
Vmn1r49	A	T	6: 90,049,689 (GRCm39)	C104*	probably null	Het
Vmn2r35	A	C	7: 7,819,897 (GRCm39)	S124R	probably benign	Het
Wdr62	T	C	7: 29,957,486 (GRCm39)	E547G	probably damaging	Het
Zfp68	A	T	5: 138,606,082 (GRCm39)	D80E	probably benign	Het

Other mutations in Chrnb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Chrnb4	APN	9	54,943,878 (GRCm39)	missense	probably damaging	1.00
IGL02207:Chrnb4	APN	9	54,942,500 (GRCm39)	missense	probably damaging	1.00
IGL03242:Chrnb4	APN	9	54,942,812 (GRCm39)	missense	probably damaging	1.00
R0345:Chrnb4	UTSW	9	54,942,878 (GRCm39)	missense	probably benign
R0735:Chrnb4	UTSW	9	54,951,084 (GRCm39)	missense	probably damaging	0.96
R1843:Chrnb4	UTSW	9	54,942,102 (GRCm39)	missense	possibly damaging	0.93
R1975:Chrnb4	UTSW	9	54,942,102 (GRCm39)	missense	probably damaging	0.99
R2204:Chrnb4	UTSW	9	54,951,132 (GRCm39)	missense	probably damaging	1.00
R2427:Chrnb4	UTSW	9	54,942,101 (GRCm39)	missense	probably benign	0.00
R3876:Chrnb4	UTSW	9	54,951,182 (GRCm39)	missense	probably damaging	1.00
R4934:Chrnb4	UTSW	9	54,942,101 (GRCm39)	missense	probably benign	0.00
R5094:Chrnb4	UTSW	9	54,942,597 (GRCm39)	missense	probably benign	0.00
R5507:Chrnb4	UTSW	9	54,942,296 (GRCm39)	missense	probably damaging	1.00
R6370:Chrnb4	UTSW	9	54,942,143 (GRCm39)	missense	probably benign	0.00
R7556:Chrnb4	UTSW	9	54,942,339 (GRCm39)	missense	probably benign	0.19
R9140:Chrnb4	UTSW	9	54,941,955 (GRCm39)	missense
R9352:Chrnb4	UTSW	9	54,951,167 (GRCm39)	missense	probably benign	0.07
X0062:Chrnb4	UTSW	9	54,941,964 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GTGTTACCCATCTGTCAAGGTCAG -3'
(R):5'- TACATAGCTCCAGGGCTCCTAC -3'

Sequencing Primer
(F):5'- TCAAGGTCAGAAGTAACATGCCTGTC -3'
(R):5'- AGGGCTCCTACACTCTGC -3'

Posted On

2020-09-02