Mutagenetix > Incidental Mutations

Incidental Mutation 'R0735:Chrnb4'

225997

Institutional Source

Beutler Lab

Gene Symbol

Chrnb4

Ensembl Gene

ENSMUSG00000035200

Gene Name

cholinergic receptor, nicotinic, beta polypeptide 4

Synonyms

Acrb-4, Acrb4

MMRRC Submission

038916-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0735 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

55028154-55048779 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55043800 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 60 (S60P)

Ref Sequence

ENSEMBL: ENSMUSP00000034854 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000034854
AA Change: S60P

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034854
Gene: ENSMUSG00000035200
AA Change: S60P

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

0.5037

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 96.7%
20x: 91.8%

Validation Efficiency

95% (73/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	A	T	19: 29,717,638	I1552K	possibly damaging	Het
Actr8	T	A	14: 29,989,712	M405K	probably benign	Het
Adam10	G	A	9: 70,748,251	V334I	possibly damaging	Het
Adgra2	G	T	8: 27,117,318	G686C	probably damaging	Het
Akap11	A	T	14: 78,510,078	I1623N	probably damaging	Het
Astn1	A	T	1: 158,472,389	T100S	possibly damaging	Het
B3galt1	A	C	2: 68,118,579	I213L	possibly damaging	Het
B4galnt4	A	G	7: 141,064,323	K101E	probably benign	Het
Camsap2	A	G	1: 136,292,888	S324P	probably damaging	Het
Cpne1	A	G	2: 156,078,750		probably null	Het
Cubn	G	A	2: 13,491,689		probably benign	Het
Cul7	T	A	17: 46,663,190	L1467H	probably damaging	Het
Cxcl15	T	C	5: 90,801,294	M106T	probably benign	Het
Cyp2c23	A	T	19: 44,016,810	M140K	probably damaging	Het
Dgke	A	G	11: 89,060,075	F104S	probably benign	Het
Dhx36	T	A	3: 62,472,729	M849L	probably benign	Het
Dnah7a	C	T	1: 53,544,511	E1522K	possibly damaging	Het
Edil3	G	T	13: 89,177,178	V219F	probably damaging	Het
Egln1	A	G	8: 124,948,495	V187A	possibly damaging	Het
Fam193a	T	C	5: 34,439,378	I455T	possibly damaging	Het
Fdft1	A	T	14: 63,163,420	I88N	probably damaging	Het
Fem1c	G	A	18: 46,505,160	R592C	probably benign	Het
Frs2	T	A	10: 117,074,582	S292C	probably damaging	Het
Gm15448	T	C	7: 3,821,782	T533A	possibly damaging	Het
Gpr107	T	A	2: 31,171,994	F145I	probably benign	Het
Gpr153	T	A	4: 152,279,373	C83*	probably null	Het
H2-Q7	T	G	17: 35,440,186		probably null	Het
Hsp90b1	A	T	10: 86,695,748		probably benign	Het
Kcnk1	C	A	8: 126,025,289	N211K	probably damaging	Het
Klb	T	C	5: 65,379,727	V800A	probably benign	Het
Lat2	T	C	5: 134,606,783	Y59C	probably damaging	Het
Mlkl	A	T	8: 111,327,801		probably benign	Het
Mroh2a	G	A	1: 88,243,950	R770Q	probably damaging	Het
Mtbp	T	A	15: 55,562,942	C93*	probably null	Het
Myo7a	A	G	7: 98,081,180		probably benign	Het
Myt1	G	A	2: 181,807,387		probably benign	Het
Ogfrl1	T	C	1: 23,375,754	Q224R	possibly damaging	Het
Olfr418	A	G	1: 173,271,002	T276A	probably benign	Het
Olfr661	A	T	7: 104,688,819	H268L	probably damaging	Het
Osbpl2	A	G	2: 180,150,290		probably benign	Het
Plb1	C	T	5: 32,284,920	T252M	possibly damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rbsn	T	C	6: 92,189,693	T657A	probably benign	Het
Rims4	C	T	2: 163,863,929	V262M	possibly damaging	Het
Rps6kb2	C	A	19: 4,157,883	S348I	probably benign	Het
Rsrp1	C	T	4: 134,924,257	R111W	unknown	Het
Ryr3	T	C	2: 112,732,982	T2933A	probably benign	Het
Scara5	A	G	14: 65,731,019	D247G	possibly damaging	Het
Slc7a11	C	T	3: 50,424,096	S231N	probably benign	Het
Sod2	A	T	17: 13,010,564	N91Y	probably damaging	Het
Spesp1	A	T	9: 62,272,685	S314T	probably benign	Het
St3gal1	C	A	15: 67,113,687	M39I	probably benign	Het
Stat6	A	T	10: 127,658,241	I646F	probably damaging	Het
Tdrd1	A	T	19: 56,865,978	K1119*	probably null	Het
Thbs2	A	G	17: 14,679,815	I600T	probably benign	Het
Tor1a	A	G	2: 30,963,838	V160A	probably damaging	Het
Trdmt1	T	G	2: 13,523,438	D104A	probably benign	Het
Trim58	T	C	11: 58,651,393	V393A	probably benign	Het
Trip4	C	T	9: 65,884,918		probably benign	Het
Trip6	T	C	5: 137,310,821	E341G	probably benign	Het
Ttn	T	A	2: 76,715,195	I32595F	probably damaging	Het
Ubr4	T	A	4: 139,428,028		probably null	Het
Ush2a	G	A	1: 188,864,693	V3877I	probably benign	Het
Vmn1r29	G	T	6: 58,307,732	G146C	probably damaging	Het
Vmn2r53	A	G	7: 12,581,780	V704A	probably benign	Het
Vmn2r7	C	T	3: 64,716,367	M268I	probably benign	Het
Wnt7b	G	A	15: 85,537,495	T248M	probably damaging	Het
Xab2	G	A	8: 3,613,649	P394S	possibly damaging	Het
Zfp663	A	G	2: 165,359,075	V13A	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
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
R7556:Chrnb4	UTSW	9	55035055	missense	probably benign	0.19
X0062:Chrnb4	UTSW	9	55034680	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AAGGTCAGAAGTAACATGCCTGTCAC -3'
(R):5'- TTGCTGCCAGGAAGAGCACAAG -3'

Sequencing Primer
(F):5'- GAAGTAACATGCCTGTCACTTAACTC -3'
(R):5'- ccctcctcccctcctcc -3'

Posted On

2014-08-26