Mutagenetix > Incidental Mutation

Incidental Mutation 'R7318:Chrnb2'

565630

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

045414-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

R7318 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89660755-89671939 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 89670674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143441 (fasta)

Gene Model

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

AlphaFold

Q9ERK7

Predicted Effect

probably null
Transcript: ENSMUST00000029562

SMART Domains

Protein: ENSMUSP00000029562
Gene: ENSMUSG00000027950

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 null
Transcript: ENSMUST00000200558

SMART Domains

Protein: ENSMUSP00000143441
Gene: ENSMUSG00000027950

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

Meta Mutation Damage Score

0.9491

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	T	C	7: 40,643,111 (GRCm39)	L260S	probably benign	Het
9130230L23Rik	A	T	5: 66,145,771 (GRCm39)	S113R	unknown	Het
Abcc5	G	A	16: 20,211,293 (GRCm39)	P557S	probably benign	Het
Acad11	A	G	9: 103,958,466 (GRCm39)	T245A	probably damaging	Het
Acap2	A	G	16: 30,946,155 (GRCm39)	F263L	probably damaging	Het
Ankle2	A	T	5: 110,385,632 (GRCm39)	N327I	probably benign	Het
Appl1	T	C	14: 26,685,617 (GRCm39)	E67G	probably benign	Het
Arfgef3	A	T	10: 18,506,211 (GRCm39)	C864S	possibly damaging	Het
Arhgap20	A	G	9: 51,751,802 (GRCm39)	I418V	probably benign	Het
Arhgef2	A	T	3: 88,539,610 (GRCm39)	N102Y	probably damaging	Het
Car9	G	T	4: 43,513,089 (GRCm39)	E431D	probably damaging	Het
Cbfa2t2	T	C	2: 154,342,374 (GRCm39)	I30T	probably benign	Het
Cd40	A	T	2: 164,904,255 (GRCm39)	D34V	possibly damaging	Het
Chsy1	T	G	7: 65,759,977 (GRCm39)		probably null	Het
Cpne6	A	G	14: 55,751,751 (GRCm39)	T245A	possibly damaging	Het
Cpsf1	T	A	15: 76,481,475 (GRCm39)	K1159*	probably null	Het
Crisp1	T	A	17: 40,618,668 (GRCm39)	E64D	possibly damaging	Het
D3Ertd751e	A	G	3: 41,756,986 (GRCm39)		probably null	Het
Dennd11	A	G	6: 40,386,098 (GRCm39)	V333A	possibly damaging	Het
Dnah7b	T	A	1: 46,234,532 (GRCm39)	L1488Q	probably damaging	Het
Dnm2	G	A	9: 21,416,863 (GRCm39)	G799R	possibly damaging	Het
Elp2	G	A	18: 24,739,956 (GRCm39)	V61I	probably damaging	Het
Epb41l3	T	C	17: 69,573,135 (GRCm39)	L388P		Het
Fry	A	T	5: 150,360,458 (GRCm39)	S2035C	probably damaging	Het
Gas8	T	C	8: 124,257,707 (GRCm39)	F385L	probably benign	Het
Ghsr	T	C	3: 27,426,616 (GRCm39)	V224A	possibly damaging	Het
Gstp2	T	A	19: 4,091,065 (GRCm39)	R85W	probably benign	Het
Ighv1-20	T	A	12: 114,687,810 (GRCm39)	I6F	possibly damaging	Het
Inpp4b	T	A	8: 82,798,374 (GRCm39)	M854K	probably damaging	Het
Kif15	A	G	9: 122,817,014 (GRCm39)	E538G	probably damaging	Het
Large2	T	C	2: 92,196,373 (GRCm39)	T485A	probably benign	Het
Lmo3	T	A	6: 138,398,363 (GRCm39)		probably benign	Het
Lyg1	G	A	1: 37,988,936 (GRCm39)	P95S	probably benign	Het
Lyst	A	G	13: 13,932,028 (GRCm39)	H3552R	probably benign	Het
Mtif2	C	T	11: 29,490,115 (GRCm39)	S385L	probably benign	Het
Muc4	A	T	16: 32,575,710 (GRCm39)	I1737F	unknown	Het
Mug1	T	C	6: 121,847,611 (GRCm39)		probably null	Het
Mx1	G	T	16: 97,253,286 (GRCm39)	Q350K	probably benign	Het
Mylk3	G	T	8: 86,085,726 (GRCm39)	D269E	probably benign	Het
Myo3a	A	T	2: 22,448,332 (GRCm39)	K974*	probably null	Het
Nectin4	G	T	1: 171,208,031 (GRCm39)	R141L	probably benign	Het
Nlgn2	T	C	11: 69,716,795 (GRCm39)	H582R	probably damaging	Het
Or51ab3	T	A	7: 103,201,298 (GRCm39)	M102K	probably damaging	Het
Or51e1	T	A	7: 102,359,226 (GRCm39)	Y253*	probably null	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Psmd11	C	A	11: 80,347,128 (GRCm39)	L171I	probably benign	Het
Rad54l	A	G	4: 115,967,906 (GRCm39)	V152A	possibly damaging	Het
Ranbp2	T	A	10: 58,318,909 (GRCm39)	Y2473*	probably null	Het
Sertad1	T	C	7: 27,188,910 (GRCm39)	I77T	possibly damaging	Het
Sesn3	A	T	9: 14,219,873 (GRCm39)	E87D	probably damaging	Het
Slc30a5	A	T	13: 100,950,477 (GRCm39)	S260R	probably benign	Het
Slc6a12	G	A	6: 121,328,972 (GRCm39)	G111S	probably damaging	Het
Slc6a12	T	C	6: 121,328,978 (GRCm39)	Y113H	probably benign	Het
Spag17	T	G	3: 99,847,299 (GRCm39)	M76R	probably benign	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Stard13	G	A	5: 150,986,038 (GRCm39)	Q491*	probably null	Het
Synpo2	T	C	3: 122,910,968 (GRCm39)	S226G	probably benign	Het
Tada2b	G	A	5: 36,641,331 (GRCm39)	T24I	probably benign	Het
Tafa1	T	C	6: 96,092,737 (GRCm39)		probably null	Het
Tmem51	TCCCC	TCCC	4: 141,764,996 (GRCm39)		probably null	Het
Tnnt1	T	A	7: 4,513,547 (GRCm39)		probably null	Het
Usp17lb	T	C	7: 104,490,340 (GRCm39)	I196V	probably benign	Het
Utp20	T	A	10: 88,649,811 (GRCm39)	K466N	possibly damaging	Het
Wdr46	T	C	17: 34,160,859 (GRCm39)		probably null	Het
Zfp287	T	A	11: 62,605,104 (GRCm39)	Q601L	probably damaging	Het
Zfp410	T	C	12: 84,372,464 (GRCm39)	S97P	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AAACCTTTCTGACTGGGCTGAC -3'
(R):5'- AGTCCTTGCAGAATGGTGTC -3'

Sequencing Primer
(F):5'- CTGACTGGGCTGACTATTGTAAC -3'
(R):5'- CAGAATGGTGTCTCTTTGGAGC -3'

Posted On

2019-06-26