Mutagenetix > Incidental Mutation

Incidental Mutation 'R9204:Chrnb2'

698364

Institutional Source

Beutler Lab

Gene Symbol

Chrnb2

Ensembl Gene

ENSMUSG00000027950

Gene Name

cholinergic receptor nicotinic beta 2 subunit

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9204 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89660755-89671939 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89668128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 396 (M396V)

Ref Sequence

ENSEMBL: ENSMUSP00000143441 (fasta)

Gene Model

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

AlphaFold

Q9ERK7

Predicted Effect

probably benign
Transcript: ENSMUST00000029562
AA Change: M396V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029562
Gene: ENSMUSG00000027950
AA Change: M396V

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

probably benign
Transcript: ENSMUST00000200558
AA Change: M396V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000143441
Gene: ENSMUSG00000027950
AA Change: M396V

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (52/52)

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
Aadat	T	C	8: 60,996,566 (GRCm39)	V389A	possibly damaging	Het
Adgrl1	T	C	8: 84,660,519 (GRCm39)	F792S	probably benign	Het
Angptl2	A	T	2: 33,118,342 (GRCm39)	I39F	probably benign	Het
Aprt	A	G	8: 123,303,355 (GRCm39)	I29T	probably damaging	Het
Arhgap21	A	T	2: 20,885,816 (GRCm39)	S464T	probably damaging	Het
Atic	T	C	1: 71,603,636 (GRCm39)	Y151H	probably damaging	Het
BB014433	T	C	8: 15,092,623 (GRCm39)	T77A	unknown	Het
Boc	C	A	16: 44,308,077 (GRCm39)	C926F		Het
Brd10	A	G	19: 29,696,938 (GRCm39)	S852P	possibly damaging	Het
Cabin1	C	T	10: 75,530,550 (GRCm39)	R1544Q	probably benign	Het
Ccdc33	A	G	9: 57,938,388 (GRCm39)	V861A	probably benign	Het
Ccdc88c	T	C	12: 100,904,322 (GRCm39)	T230A	unknown	Het
Cdc42bpa	T	A	1: 179,939,460 (GRCm39)		probably null	Het
Chst2	A	G	9: 95,287,155 (GRCm39)	V397A	probably damaging	Het
Cit	T	A	5: 116,126,498 (GRCm39)	N1643K	probably damaging	Het
Ckb	T	A	12: 111,637,869 (GRCm39)	D113V	probably benign	Het
Cyp2c68	A	T	19: 39,727,571 (GRCm39)	M136K	probably damaging	Het
Epas1	G	T	17: 87,116,873 (GRCm39)	R181L	probably damaging	Het
Flnc	A	C	6: 29,452,353 (GRCm39)	I1726L	possibly damaging	Het
Fras1	G	A	5: 96,883,022 (GRCm39)	R2518H	probably damaging	Het
Gid4	T	C	11: 60,308,654 (GRCm39)	V58A	probably benign	Het
Hmcn1	T	A	1: 150,610,262 (GRCm39)	N1469I	probably benign	Het
Hmcn2	A	G	2: 31,278,377 (GRCm39)	E1693G	probably damaging	Het
Irx4	C	G	13: 73,416,649 (GRCm39)	C348W	probably damaging	Het
Lrig2	A	G	3: 104,387,438 (GRCm39)	S410P	possibly damaging	Het
Lsm11	A	G	11: 45,824,789 (GRCm39)	V246A	probably benign	Het
Ltbp1	G	T	17: 75,670,425 (GRCm39)	V1489F	probably damaging	Het
Mc2r	T	C	18: 68,540,667 (GRCm39)	T209A	probably benign	Het
Mms22l	T	C	4: 24,581,153 (GRCm39)	L821P	probably damaging	Het
Mtus2	A	T	5: 148,238,293 (GRCm39)	E1206V	probably damaging	Het
Muc5b	T	A	7: 141,410,129 (GRCm39)	H1234Q	unknown	Het
Naip5	A	T	13: 100,359,008 (GRCm39)	F743I	probably damaging	Het
Nphp3	G	A	9: 103,919,305 (GRCm39)	V1318I	probably benign	Het
Or4c10b	T	G	2: 89,711,482 (GRCm39)	L104W	probably damaging	Het
Or52a24	A	G	7: 103,382,056 (GRCm39)	K308E	possibly damaging	Het
Or5p60	A	T	7: 107,723,935 (GRCm39)	N178K	possibly damaging	Het
Or7g26	T	C	9: 19,229,995 (GRCm39)	L61P	probably damaging	Het
Or8b4	C	A	9: 37,830,670 (GRCm39)	T239K	probably damaging	Het
Or9k2b	G	C	10: 130,016,566 (GRCm39)	P61R	probably damaging	Het
Paqr5	G	A	9: 61,868,826 (GRCm39)	R246C	probably benign	Het
Pdgfb	T	C	15: 79,885,956 (GRCm39)	Q128R	probably damaging	Het
Prr3	T	A	17: 36,285,619 (GRCm39)	I88F	possibly damaging	Het
Ptprd	C	G	4: 75,872,315 (GRCm39)	A1134P	possibly damaging	Het
R3hcc1l	G	A	19: 42,552,301 (GRCm39)	D433N	probably benign	Het
Scnn1b	A	T	7: 121,498,522 (GRCm39)	T21S	probably benign	Het
Smcr8	A	G	11: 60,668,857 (GRCm39)	I2V	probably damaging	Het
Stk33	T	C	7: 108,940,686 (GRCm39)	D8G	probably benign	Het
Tbc1d22a	T	C	15: 86,098,803 (GRCm39)	F10L	probably benign	Het
Tmem126a	T	A	7: 90,102,026 (GRCm39)	I58F	possibly damaging	Het
Ttf2	T	C	3: 100,869,880 (GRCm39)	K398E	probably benign	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Usp53	G	T	3: 122,741,068 (GRCm39)	N727K	probably benign	Het
Vmn2r25	T	G	6: 123,830,092 (GRCm39)	I20L	probably benign	Het
Zfp747l1	T	A	7: 126,984,332 (GRCm39)	I257L	unknown	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
IGL03117:Chrnb2	APN	3	89,670,552 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- GACATGCCTATCTCACCCTTGG -3'
(R):5'- TCAATGTGCACCACCGTTC -3'

Sequencing Primer
(F):5'- GGTACTCACACTCTGGTCATC -3'
(R):5'- CCCTGGGTCAAGGTGGTCTTC -3'

Posted On

2022-02-07