Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03242:Chrnb4'

414887

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chrnb4

Ensembl Gene

ENSMUSG00000035200

Gene Name

cholinergic receptor, nicotinic, beta polypeptide 4

Synonyms

Acrb-4, Acrb4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL03242

Quality Score

Status

Chromosome

Chromosomal Location

54935438-54956063 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54942812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 154 (I154K)

Ref Sequence

ENSEMBL: ENSMUSP00000034854 (fasta)

Gene Model

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

AlphaFold

Q8R493

Predicted Effect

probably damaging
Transcript: ENSMUST00000034854
AA Change: I154K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034854
Gene: ENSMUSG00000035200
AA Change: I154K

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

Coding Region Coverage

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,667,189 (GRCm39)	W221R	unknown	Het
Ank2	A	G	3: 126,722,454 (GRCm39)	F1000L	possibly damaging	Het
Aoc1l2	T	C	6: 48,909,479 (GRCm39)	F575L	possibly damaging	Het
Bahcc1	T	C	11: 120,159,126 (GRCm39)		probably benign	Het
BC024139	T	C	15: 76,004,520 (GRCm39)	M679V	probably benign	Het
Carmil2	A	G	8: 106,417,952 (GRCm39)		probably benign	Het
Catsperg2	A	G	7: 29,424,904 (GRCm39)		probably benign	Het
Clec2e	A	C	6: 129,071,989 (GRCm39)	L130W	probably damaging	Het
Coro2b	G	T	9: 62,336,243 (GRCm39)	Y281*	probably null	Het
Dlk2	A	G	17: 46,613,903 (GRCm39)	Y386C	probably benign	Het
Dnah7a	A	T	1: 53,659,882 (GRCm39)	F709I	probably benign	Het
Efcab3	A	C	11: 104,997,230 (GRCm39)	E140A	probably damaging	Het
Exoc1	T	C	5: 76,706,854 (GRCm39)	L467P	probably damaging	Het
Fkbp2	A	G	19: 6,955,980 (GRCm39)	V75A	probably benign	Het
Glud1	T	C	14: 34,056,237 (GRCm39)	F304L	probably benign	Het
Gsr	T	A	8: 34,175,627 (GRCm39)	V291E	probably benign	Het
Itprid2	C	T	2: 79,473,815 (GRCm39)	R189*	probably null	Het
Kap	A	G	6: 133,828,763 (GRCm39)		probably benign	Het
Kmt2a	G	T	9: 44,759,689 (GRCm39)	T720N	probably damaging	Het
Lrrtm4	T	C	6: 79,999,071 (GRCm39)	I161T	probably benign	Het
Lyst	T	A	13: 13,831,466 (GRCm39)	L1630*	probably null	Het
Med13l	A	G	5: 118,885,510 (GRCm39)	S1488G	probably benign	Het
Mlxip	A	G	5: 123,578,124 (GRCm39)	K147E	probably damaging	Het
Nalcn	T	C	14: 123,558,899 (GRCm39)	E810G	possibly damaging	Het
Or2d4	A	G	7: 106,544,125 (GRCm39)	F28L	possibly damaging	Het
Or56a5	G	A	7: 104,793,473 (GRCm39)	S15F	probably benign	Het
Or5p54	T	C	7: 107,554,688 (GRCm39)	V280A	possibly damaging	Het
Pcare	A	G	17: 72,057,266 (GRCm39)	S804P	probably benign	Het
Piezo2	T	C	18: 63,144,609 (GRCm39)		probably benign	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Serpina3j	G	A	12: 104,285,960 (GRCm39)	A372T	possibly damaging	Het
Slc28a3	G	A	13: 58,722,063 (GRCm39)	Q274*	probably null	Het
Stk36	T	C	1: 74,662,511 (GRCm39)	F543S	possibly damaging	Het
Tfrc	T	C	16: 32,448,930 (GRCm39)	S690P	probably damaging	Het
Tg	C	A	15: 66,555,647 (GRCm39)	Q780K	probably damaging	Het
Top1	T	A	2: 160,557,653 (GRCm39)	H578Q	probably damaging	Het
Treh	A	G	9: 44,596,634 (GRCm39)	T463A	possibly damaging	Het
Treml1	G	A	17: 48,673,016 (GRCm39)		probably benign	Het
Trpm2	A	G	10: 77,753,568 (GRCm39)	V1312A	probably benign	Het
Ttc41	T	A	10: 86,612,683 (GRCm39)	*1319K	probably null	Het
Tulp2	A	G	7: 45,171,282 (GRCm39)	I354M	probably damaging	Het
Ugt2b35	T	C	5: 87,155,254 (GRCm39)	L363P	probably damaging	Het
Usp13	A	T	3: 32,956,218 (GRCm39)	M496L	probably benign	Het
Virma	T	C	4: 11,527,669 (GRCm39)	S1187P	possibly damaging	Het
Wdr76	T	A	2: 121,372,951 (GRCm39)	C593S	probably damaging	Het
Zfp446	G	A	7: 12,713,252 (GRCm39)	A97T	probably damaging	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
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
R8399:Chrnb4	UTSW	9	54,951,107 (GRCm39)	missense	probably benign	0.02
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

Posted On

2016-08-02