Mutagenetix > Incidental Mutations

Incidental Mutation 'R7556:Chrnb4'

584780

Institutional Source

Beutler Lab

Gene Symbol

Chrnb4

Ensembl Gene

ENSMUSG00000035200

Gene Name

cholinergic receptor, nicotinic, beta polypeptide 4

Synonyms

Acrb-4, Acrb4

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R7556 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55028154-55048779 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55035055 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 312 (T312A)

Ref Sequence

ENSEMBL: ENSMUSP00000034854 (fasta)

Gene Model

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

AlphaFold

Q8R493

Predicted Effect

probably benign
Transcript: ENSMUST00000034854
AA Change: T312A

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000034854
Gene: ENSMUSG00000035200
AA Change: T312A

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: 99.6%
20x: 98.9%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	T	9: 46,310,313	W11*	probably null	Het
A2ml1	A	G	6: 128,569,964	S401P	probably damaging	Het
Adamtsl1	T	A	4: 86,277,121	Y592N	probably benign	Het
Adh6b	C	T	3: 138,352,785	T76I	probably damaging	Het
Aebp2	C	A	6: 140,677,411	P503Q	probably benign	Het
Ankrd2	A	G	19: 42,040,400	D134G		Het
Atf7ip	T	C	6: 136,561,241	S491P	probably damaging	Het
Atp1a3	T	C	7: 24,981,566	D832G	probably benign	Het
Atrnl1	G	A	19: 57,654,846	V389I	probably benign	Het
Bahcc1	T	C	11: 120,287,763	S2383P	probably damaging	Het
BC051142	A	T	17: 34,437,717	I103F	unknown	Het
Brd9	A	G	13: 73,944,767	D292G	possibly damaging	Het
Cacna1e	G	T	1: 154,472,673	Q781K	probably benign	Het
Ccdc9	T	C	7: 16,284,566		probably benign	Het
Cdc42ep4	C	G	11: 113,728,540	E342Q	probably damaging	Het
Celf3	C	T	3: 94,480,283	T54M	probably damaging	Het
Cenpn	T	C	8: 116,937,269	Y267H	probably damaging	Het
Clcn3	T	A	8: 60,929,487	T383S	probably damaging	Het
Cln3	T	C	7: 126,575,070	Q327R	probably damaging	Het
Cnep1r1	T	C	8: 88,125,133	L50P	probably damaging	Het
Cnot6	T	C	11: 49,675,317	N512S	probably benign	Het
Col7a1	T	A	9: 108,982,465		probably null	Het
Cryba4	C	T	5: 112,251,103	R25Q	probably damaging	Het
Dnah5	A	G	15: 28,290,243	I1260V	probably null	Het
Dock2	G	T	11: 34,720,951	T195K	probably benign	Het
Dpp9	A	T	17: 56,190,012	I740N	possibly damaging	Het
Fbxl21	A	T	13: 56,526,928	N31Y	probably benign	Het
Frat1	G	A	19: 41,830,520	R118Q	possibly damaging	Het
Gna11	A	G	10: 81,531,374	F228S		Het
Golgb1	A	T	16: 36,915,793	M1842L	probably benign	Het
Got1	A	T	19: 43,503,030	M327K	probably damaging	Het
Hexa	T	A	9: 59,563,299	L468Q	probably damaging	Het
Hist1h4i	A	G	13: 22,041,244	I27T	probably damaging	Het
Ift57	G	A	16: 49,706,128	V178I	probably benign	Het
Kbtbd13	T	C	9: 65,391,475	T60A	probably benign	Het
Klk5	A	G	7: 43,847,225	T194A	probably damaging	Het
Krtap16-3	C	A	16: 88,962,778	G16C	unknown	Het
Lamb3	T	C	1: 193,332,449	S639P	probably benign	Het
Mapt	C	A	11: 104,298,702	P182Q	probably benign	Het
Mcf2l	A	G	8: 12,973,071	T86A	probably damaging	Het
Mecom	G	T	3: 29,987,071	H125N	probably benign	Het
Med18	T	C	4: 132,459,936	H84R	probably benign	Het
Muc2	A	G	7: 141,753,702	Y798C		Het
Mycbp	T	C	4: 123,905,267	Y17H	probably damaging	Het
Nacad	C	T	11: 6,601,272	V640M	possibly damaging	Het
Ncoa1	C	T	12: 4,270,794	V1092I	probably damaging	Het
Nomo1	A	G	7: 46,066,218	E696G	probably damaging	Het
Notch4	G	A	17: 34,575,470	C741Y	probably damaging	Het
Olfr212	C	T	6: 116,516,736	Q320*	probably null	Het
Olfr978	A	G	9: 39,994,682	N291D	probably damaging	Het
Osbpl10	C	A	9: 115,207,624	H229Q	probably damaging	Het
Pif1	A	T	9: 65,589,711		probably null	Het
Plk2	T	G	13: 110,396,588		probably null	Het
Ppp1r42	T	C	1: 9,995,183	H172R	probably benign	Het
Ring1	A	G	17: 34,021,714	I363T	possibly damaging	Het
Rnf168	T	G	16: 32,299,045	Y475D	probably damaging	Het
Sbf2	T	A	7: 110,314,053	K1671N	probably benign	Het
Sema6d	A	G	2: 124,654,189	N51S	probably damaging	Het
Setx	C	A	2: 29,146,493	Q997K	possibly damaging	Het
Skint5	T	G	4: 113,567,965	Q1088P	unknown	Het
Slc22a27	T	C	19: 7,865,754	D528G	probably damaging	Het
Slc6a7	T	A	18: 61,007,442	K173*	probably null	Het
Smc2	T	C	4: 52,457,379	F380L	probably benign	Het
Spata31d1a	T	C	13: 59,701,984	M777V	probably benign	Het
Stkld1	A	T	2: 26,947,295	N319I	possibly damaging	Het
Tanc2	T	C	11: 105,909,031	V93A		Het
Tbx20	T	C	9: 24,750,277		probably null	Het
Trbv20	G	A	6: 41,188,781	V47I	probably benign	Het
Trip4	A	T	9: 65,874,873	C192*	probably null	Het
Tulp2	A	G	7: 45,518,581		probably null	Het
Ush2a	C	A	1: 188,957,493	P5084Q	probably benign	Het
Virma	T	C	4: 11,518,927	Y675H	probably damaging	Het
Vmn2r102	T	A	17: 19,677,831	N369K	probably benign	Het
Vmn2r59	A	T	7: 42,045,809	M393K	probably damaging	Het
Vmn2r69	GAAAA	GAAAAA	7: 85,411,560		probably null	Het
Xpot	A	G	10: 121,613,506	S30P	probably benign	Het
Zfp947	T	C	17: 22,145,616	Y359C	probably benign	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
R2427:Chrnb4	UTSW	9	55034817	missense	probably benign	0.00
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
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'- TCAGCTGTGGTCAAGTGCAG -3'
(R):5'- CAATCTGATCATCCCTTGTGTG -3'

Sequencing Primer
(F):5'- TCAAGTGCAGCTGGCTG -3'
(R):5'- TGCTCATCACGTCGCTGG -3'

Posted On

2019-10-17