Mutagenetix > Incidental Mutations

Incidental Mutation 'R2427:Chrnb4'

250281

Institutional Source

Beutler Lab

Gene Symbol

Chrnb4

Ensembl Gene

ENSMUSG00000035200

Gene Name

cholinergic receptor, nicotinic, beta polypeptide 4

Synonyms

Acrb-4, Acrb4

MMRRC Submission

040389-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R2427 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55028154-55048779 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55034817 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 391 (Y391C)

Ref Sequence

ENSEMBL: ENSMUSP00000034854 (fasta)

Gene Model

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

AlphaFold

Q8R493

Predicted Effect

probably benign
Transcript: ENSMUST00000034854
AA Change: Y391C

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000034854
Gene: ENSMUSG00000035200
AA Change: Y391C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217609

Meta Mutation Damage Score

0.2581

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (37/37)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933425L06Rik	T	C	13: 105,109,761	F277L	probably benign	Het
Ankmy1	A	G	1: 92,870,807		probably null	Het
Atp2a1	T	A	7: 126,446,583	*995L	probably null	Het
Axin2	T	A	11: 108,923,974	N229K	possibly damaging	Het
Capn13	A	T	17: 73,326,317		probably benign	Het
Ccdc180	A	G	4: 45,929,545	I1202V	probably benign	Het
Cep295	A	G	9: 15,334,238	L974P	probably damaging	Het
Cers3	T	C	7: 66,795,793	Y321H	probably benign	Het
Ciao1	T	C	2: 127,246,691	H104R	probably damaging	Het
Cldn4	A	T	5: 134,946,477	V90E	probably damaging	Het
Crbn	T	C	6: 106,783,472	E253G	probably damaging	Het
Ctns	A	G	11: 73,196,686	W5R	probably damaging	Het
Eme1	G	A	11: 94,650,975		probably benign	Het
Fam19a4	C	T	6: 97,014,367		probably benign	Het
Fat2	T	A	11: 55,310,812	T479S	probably benign	Het
Fbxw25	T	C	9: 109,652,860	N253D	probably benign	Het
Fer	A	G	17: 63,957,303	I39V	probably benign	Het
Fmnl2	A	G	2: 53,116,979	M768V	probably damaging	Het
Frg1	T	C	8: 41,414,866	K24E	probably damaging	Het
I830077J02Rik	G	T	3: 105,928,004	A19D	probably damaging	Het
Ighv1-20	C	T	12: 114,724,072		silent	Het
Igsf9	A	G	1: 172,490,739	S149G	probably damaging	Het
Klra10	T	A	6: 130,279,335	I119F	probably benign	Het
Lrrc4b	T	A	7: 44,462,552	I616N	probably damaging	Het
Lrrc71	T	C	3: 87,746,002	T64A	probably benign	Het
Ly9	A	T	1: 171,607,232	I31N	probably damaging	Het
Mef2a	A	G	7: 67,266,060	S165P	probably damaging	Het
Nol4	T	G	18: 22,850,698		probably benign	Het
Plxnd1	C	T	6: 115,967,748		probably null	Het
Rab27b	T	C	18: 69,996,134	T30A	probably damaging	Het
Rasa4	A	G	5: 136,102,027	D384G	probably benign	Het
Slx4	G	A	16: 3,988,987	L531F	probably damaging	Het
Tgm1	C	T	14: 55,712,100		probably null	Het
Tpm2	T	C	4: 43,523,306	N17D	probably damaging	Het
Tyrp1	A	G	4: 80,850,871	T134A	probably benign	Het
Zfand6	T	A	7: 84,634,290	K35*	probably null	Het
Zfp648	G	A	1: 154,205,073	C326Y	probably damaging	Het

Other mutations in Chrnb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Chrnb4	APN	9	55036594	missense	probably damaging	1.00
IGL02207:Chrnb4	APN	9	55035216	missense	probably damaging	1.00
IGL03242:Chrnb4	APN	9	55035528	missense	probably damaging	1.00
R0345:Chrnb4	UTSW	9	55035594	missense	probably benign
R0735:Chrnb4	UTSW	9	55043800	missense	probably damaging	0.96
R1843:Chrnb4	UTSW	9	55034818	missense	possibly damaging	0.93
R1975:Chrnb4	UTSW	9	55034818	missense	probably damaging	0.99
R2204:Chrnb4	UTSW	9	55043848	missense	probably damaging	1.00
R3876:Chrnb4	UTSW	9	55043898	missense	probably damaging	1.00
R4934:Chrnb4	UTSW	9	55034817	missense	probably benign	0.00
R5094:Chrnb4	UTSW	9	55035313	missense	probably benign	0.00
R5507:Chrnb4	UTSW	9	55035012	missense	probably damaging	1.00
R6370:Chrnb4	UTSW	9	55034859	missense	probably benign	0.00
R7556:Chrnb4	UTSW	9	55035055	missense	probably benign	0.19
R8399:Chrnb4	UTSW	9	55043823	missense	probably benign	0.02
R9140:Chrnb4	UTSW	9	55034671	missense
R9352:Chrnb4	UTSW	9	55043883	missense	probably benign	0.07
X0062:Chrnb4	UTSW	9	55034680	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AGCGACTTACACTCTGATCTCG -3'
(R):5'- AATGTGCACCACCGTTCACC -3'

Sequencing Primer
(F):5'- GATCATCACTCTCCAAATGCTGTG -3'
(R):5'- ACCATGGCATCCTGGGTCAAG -3'

Posted On

2014-11-12