Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03117:Chrnb2'

419462

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chrnb2

Ensembl Gene

ENSMUSG00000027950

Gene Name

cholinergic receptor nicotinic beta 2 subunit

Synonyms

C030030P04Rik, Acrb2, [b]2-nAchR, Acrb-2

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.255) question?

Stock #

IGL03117

Quality Score

Status

Chromosome

Chromosomal Location

89660755-89671939 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89670552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 62 (V62A)

Ref Sequence

ENSEMBL: ENSMUSP00000143441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029562] [ENSMUST00000200558]

AlphaFold

Q9ERK7

Predicted Effect

probably damaging
Transcript: ENSMUST00000029562
AA Change: V62A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000029562
Gene: ENSMUSG00000027950
AA Change: V62A

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	29	234	5.6e-75	PFAM
Pfam:Neur_chan_memb	241	477	1.7e-86	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000038450

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195940

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199372

Predicted Effect

probably damaging
Transcript: ENSMUST00000200558
AA Change: V62A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143441
Gene: ENSMUSG00000027950
AA Change: V62A

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Neur_chan_LBD	29	234	1.5e-71	PFAM
Pfam:Neur_chan_memb	241	454	4.8e-61	PFAM
low complexity region	657	666	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations have impaired responses to nicotine, but show improved passive avoidance behavior. With age, mutants show more neurodegeneration and alterations of the visual system, with decreased cortical visual acuity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna2d3	A	G	14: 29,189,909 (GRCm39)	L109P	probably damaging	Het
Caprin2	A	T	6: 148,763,964 (GRCm39)	S568T	possibly damaging	Het
Catip	A	G	1: 74,403,744 (GRCm39)	T154A	probably null	Het
Ccdc187	A	G	2: 26,177,980 (GRCm39)	S270P	possibly damaging	Het
Ccdc88a	A	G	11: 29,324,559 (GRCm39)	Y39C	probably damaging	Het
Chrdl2	A	T	7: 99,676,787 (GRCm39)	H203L	possibly damaging	Het
Cklf	T	A	8: 104,984,055 (GRCm39)	S73T	possibly damaging	Het
Clk1	A	G	1: 58,456,166 (GRCm39)		probably null	Het
Ctdp1	T	C	18: 80,492,716 (GRCm39)	D593G	probably damaging	Het
Ctsc	A	T	7: 87,958,988 (GRCm39)	I423F	probably damaging	Het
D130043K22Rik	T	A	13: 25,073,825 (GRCm39)	V968E	probably damaging	Het
Dennd4c	A	G	4: 86,696,140 (GRCm39)	S166G	possibly damaging	Het
Dnah2	G	T	11: 69,327,117 (GRCm39)		probably benign	Het
Dnajb11	G	T	16: 22,687,888 (GRCm39)	R206L	probably benign	Het
Dsel	A	T	1: 111,786,908 (GRCm39)		probably benign	Het
Ehd2	T	C	7: 15,684,396 (GRCm39)	S468G	possibly damaging	Het
Ehmt2	T	A	17: 35,125,787 (GRCm39)	V640E	possibly damaging	Het
Elmo2	T	A	2: 165,140,573 (GRCm39)	E299D	probably benign	Het
Eps8l1	T	C	7: 4,473,886 (GRCm39)	L231P	probably damaging	Het
Esd	A	G	14: 74,978,686 (GRCm39)	T83A	probably damaging	Het
Flt3	A	G	5: 147,293,020 (GRCm39)	F529L	probably benign	Het
Hnrnpu	G	A	1: 178,158,339 (GRCm39)		probably benign	Het
Hpx	G	T	7: 105,249,278 (GRCm39)	A7E	possibly damaging	Het
Ighv6-5	C	T	12: 114,380,320 (GRCm39)	V85M	possibly damaging	Het
Itpr3	G	A	17: 27,338,240 (GRCm39)	V2503I	probably damaging	Het
Itprid1	A	G	6: 55,875,114 (GRCm39)	T355A	probably benign	Het
Matr3	G	T	18: 35,705,710 (GRCm39)	G212C	probably damaging	Het
Mrpl35	A	T	6: 71,793,263 (GRCm39)	Y129*	probably null	Het
Myh2	T	C	11: 67,071,710 (GRCm39)	I509T	possibly damaging	Het
Nat8l	G	T	5: 34,158,288 (GRCm39)	A233S	probably damaging	Het
Nipbl	A	C	15: 8,361,936 (GRCm39)	L1447W	probably damaging	Het
Paf1	T	A	7: 28,094,481 (GRCm39)	C31S	possibly damaging	Het
Parp4	A	C	14: 56,840,313 (GRCm39)	T573P	probably benign	Het
Phf12	A	T	11: 77,913,846 (GRCm39)		probably benign	Het
Pi4k2b	A	G	5: 52,905,765 (GRCm39)	E102G	probably benign	Het
Pou2f1	A	G	1: 165,762,382 (GRCm39)	C7R	probably benign	Het
Prpsap2	T	C	11: 61,631,815 (GRCm39)	R181G	probably benign	Het
Psd	A	G	19: 46,311,561 (GRCm39)		probably benign	Het
Ptgds	T	C	2: 25,359,622 (GRCm39)	T22A	probably benign	Het
Rab21	A	T	10: 115,151,097 (GRCm39)		probably null	Het
Relb	T	C	7: 19,346,582 (GRCm39)	D330G	probably damaging	Het
Rhoc	A	T	3: 104,700,236 (GRCm39)	T100S	probably benign	Het
Ryr1	G	T	7: 28,802,389 (GRCm39)	H744N	probably damaging	Het
Sardh	C	T	2: 27,129,458 (GRCm39)	G280D	probably damaging	Het
Scyl2	A	C	10: 89,493,729 (GRCm39)	N346K	possibly damaging	Het
Sec16b	T	C	1: 157,362,970 (GRCm39)	F267S	probably damaging	Het
Slc44a5	T	A	3: 153,956,714 (GRCm39)	M322K	probably benign	Het
St8sia4	T	A	1: 95,519,508 (GRCm39)	N327Y	probably benign	Het
Tbl1xr1	T	A	3: 22,257,323 (GRCm39)	Y395*	probably null	Het
Unc13c	A	T	9: 73,441,307 (GRCm39)	S1897R	probably benign	Het
Vangl2	A	G	1: 171,840,415 (GRCm39)	S58P	probably damaging	Het
Vmn1r17	A	G	6: 57,337,501 (GRCm39)	I288T	probably benign	Het
Vmn1r236	A	G	17: 21,507,508 (GRCm39)	I209V	probably benign	Het
Zfp809	A	G	9: 22,149,950 (GRCm39)	Y149C	probably damaging	Het

Other mutations in Chrnb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03108:Chrnb2	APN	3	89,670,681 (GRCm39)	splice site	probably benign
IGL03391:Chrnb2	APN	3	89,668,184 (GRCm39)	missense	probably damaging	0.98
R0131:Chrnb2	UTSW	3	89,671,713 (GRCm39)	start codon destroyed	probably null	0.01
R0131:Chrnb2	UTSW	3	89,671,713 (GRCm39)	start codon destroyed	probably null	0.01
R0132:Chrnb2	UTSW	3	89,671,713 (GRCm39)	start codon destroyed	probably null	0.01
R1726:Chrnb2	UTSW	3	89,668,509 (GRCm39)	missense	probably damaging	1.00
R2095:Chrnb2	UTSW	3	89,668,744 (GRCm39)	missense	probably benign	0.01
R2124:Chrnb2	UTSW	3	89,676,648 (GRCm39)	unclassified	probably benign
R3548:Chrnb2	UTSW	3	89,668,898 (GRCm39)	missense	probably benign	0.04
R4212:Chrnb2	UTSW	3	89,668,851 (GRCm39)	missense	probably damaging	1.00
R4902:Chrnb2	UTSW	3	89,668,248 (GRCm39)	missense	probably damaging	1.00
R6307:Chrnb2	UTSW	3	89,668,831 (GRCm39)	missense	probably damaging	1.00
R6751:Chrnb2	UTSW	3	89,668,883 (GRCm39)	missense	probably damaging	1.00
R6999:Chrnb2	UTSW	3	89,668,622 (GRCm39)	missense	possibly damaging	0.71
R7318:Chrnb2	UTSW	3	89,670,674 (GRCm39)	critical splice acceptor site	probably null
R7826:Chrnb2	UTSW	3	89,670,550 (GRCm39)	missense	probably damaging	1.00
R8025:Chrnb2	UTSW	3	89,668,649 (GRCm39)	missense	probably damaging	1.00
R8094:Chrnb2	UTSW	3	89,668,698 (GRCm39)	missense	probably damaging	1.00
R8143:Chrnb2	UTSW	3	89,654,630 (GRCm39)	missense	unknown
R8739:Chrnb2	UTSW	3	89,669,746 (GRCm39)	missense	probably damaging	1.00
R8809:Chrnb2	UTSW	3	89,664,457 (GRCm39)	missense	probably benign
R8969:Chrnb2	UTSW	3	89,664,532 (GRCm39)	missense	probably damaging	0.97
R9054:Chrnb2	UTSW	3	89,664,562 (GRCm39)	missense	probably damaging	1.00
R9204:Chrnb2	UTSW	3	89,668,128 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02