Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00509:Chrnb4'

4880

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 #

IGL00509

Quality Score

Status

Chromosome

Chromosomal Location

54935438-54956063 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54943878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 80 (L80Q)

Ref Sequence

ENSEMBL: ENSMUSP00000034854 (fasta)

Gene Model

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

AlphaFold

Q8R493

Predicted Effect

probably damaging
Transcript: ENSMUST00000034854
AA Change: L80Q

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

SMART Domains

Protein: ENSMUSP00000034854
Gene: ENSMUSG00000035200
AA Change: L80Q

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	T	C	5: 99,391,102 (GRCm39)		probably null	Het
Abr	A	G	11: 76,313,915 (GRCm39)	L514P	probably damaging	Het
Ahnak	T	A	19: 8,987,315 (GRCm39)	D2866E	possibly damaging	Het
Bfsp1	T	A	2: 143,673,812 (GRCm39)	T293S	probably damaging	Het
Ccr1	C	T	9: 123,764,090 (GRCm39)	V147I	probably benign	Het
Cd84	T	C	1: 171,679,704 (GRCm39)		probably null	Het
Cep192	T	C	18: 67,991,939 (GRCm39)	V1939A	possibly damaging	Het
Ckmt2	A	T	13: 92,011,382 (GRCm39)	L76H	probably damaging	Het
Cntnap2	C	T	6: 45,992,197 (GRCm39)	P375S	possibly damaging	Het
Cped1	A	T	6: 22,215,522 (GRCm39)	L685F	probably damaging	Het
Dab2ip	T	C	2: 35,610,025 (GRCm39)	S682P	probably damaging	Het
Dclk1	A	T	3: 55,154,707 (GRCm39)	T46S	probably damaging	Het
Eif2d	T	A	1: 131,094,089 (GRCm39)	C427S	probably benign	Het
Fat4	T	A	3: 38,943,188 (GRCm39)	Y694N	probably damaging	Het
Gm15217	T	C	14: 46,620,768 (GRCm39)		probably benign	Het
Gpr35	T	C	1: 92,910,594 (GRCm39)	I102T	probably damaging	Het
Grk4	T	A	5: 34,873,634 (GRCm39)	N233K	probably damaging	Het
Hdac3	T	C	18: 38,087,938 (GRCm39)	D10G	possibly damaging	Het
Hexb	G	A	13: 97,318,437 (GRCm39)	T308M	probably damaging	Het
Inpp5j	C	A	11: 3,451,595 (GRCm39)	D436Y	possibly damaging	Het
Kif18a	A	G	2: 109,148,333 (GRCm39)	E609G	possibly damaging	Het
Kif24	T	C	4: 41,413,826 (GRCm39)		probably null	Het
Lrp4	G	A	2: 91,316,519 (GRCm39)		probably benign	Het
Mat2b	T	C	11: 40,575,554 (GRCm39)	K161E	possibly damaging	Het
Nek2	T	G	1: 191,559,490 (GRCm39)		probably benign	Het
Numa1	A	G	7: 101,662,493 (GRCm39)	T1965A	possibly damaging	Het
Oca2	G	A	7: 55,930,594 (GRCm39)	G137D	probably damaging	Het
Pdcl2	T	A	5: 76,472,959 (GRCm39)	D3V	probably damaging	Het
Ranbp17	T	C	11: 33,443,402 (GRCm39)	N91S	probably benign	Het
Siglech	A	T	7: 55,418,635 (GRCm39)	D146V	possibly damaging	Het
Slc4a3	C	T	1: 75,531,727 (GRCm39)	T898M	probably damaging	Het
Sp3	A	G	2: 72,768,406 (GRCm39)		probably benign	Het
Tln1	C	T	4: 43,542,719 (GRCm39)	V1396I	probably benign	Het
Ugt2a3	T	A	5: 87,473,514 (GRCm39)	M468L	probably damaging	Het

Other mutations in Chrnb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-04-20