Mutagenetix > Incidental Mutation

Incidental Mutation 'R8739:Chrnb2'

663211

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

068586-MU

Accession Numbers

Essential gene?

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

Stock #

R8739 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89660755-89671939 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89669746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 109 (S109P)

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: S109P

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000029562
Gene: ENSMUSG00000027950
AA Change: S109P

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 damaging
Transcript: ENSMUST00000200558
AA Change: S109P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143441
Gene: ENSMUSG00000027950
AA Change: S109P

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: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

100% (59/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	T	C	8: 41,133,480 (GRCm39)	V316A	possibly damaging	Het
Adamts9	T	C	6: 92,831,261 (GRCm39)	E1364G	probably benign	Het
Agrn	C	T	4: 156,257,045 (GRCm39)	R1233Q	probably benign	Het
Ankrd6	A	G	4: 32,806,337 (GRCm39)	S639P	possibly damaging	Het
Arid5a	A	G	1: 36,358,677 (GRCm39)	N418S	probably benign	Het
Cep152	T	C	2: 125,461,975 (GRCm39)	E69G	probably benign	Het
Chuk	A	G	19: 44,077,135 (GRCm39)	S404P	probably benign	Het
Clec4a3	T	C	6: 122,944,508 (GRCm39)	Y185H	probably damaging	Het
Dctd	T	A	8: 48,591,883 (GRCm39)	L149H	probably benign	Het
Dgkb	T	A	12: 38,278,323 (GRCm39)		probably benign	Het
Dhrs13	G	C	11: 77,923,492 (GRCm39)	R70P	possibly damaging	Het
Dnah5	G	A	15: 28,346,006 (GRCm39)	A2449T	probably benign	Het
Dync1h1	T	C	12: 110,581,014 (GRCm39)	V247A	probably damaging	Het
Eef1ece2	G	A	16: 20,449,665 (GRCm39)		probably benign	Het
Espnl	T	A	1: 91,272,317 (GRCm39)	L559Q	probably damaging	Het
Gak	A	G	5: 108,739,604 (GRCm39)	V627A	possibly damaging	Het
Gcnt1	A	T	19: 17,307,437 (GRCm39)	M96K	probably benign	Het
Ggta1	T	C	2: 35,292,572 (GRCm39)	D245G	probably damaging	Het
Hfm1	A	T	5: 107,046,371 (GRCm39)	F505Y	probably damaging	Het
Inpp4a	A	G	1: 37,422,207 (GRCm39)		probably benign	Het
Kcnj14	C	G	7: 45,468,812 (GRCm39)	R231P	probably damaging	Het
Lamc2	A	T	1: 153,020,399 (GRCm39)	C382*	probably null	Het
Marveld3	T	C	8: 110,688,609 (GRCm39)	E44G	possibly damaging	Het
Mettl17	T	C	14: 52,128,848 (GRCm39)	F373L	possibly damaging	Het
Morc3	T	A	16: 93,657,398 (GRCm39)	L374Q	probably damaging	Het
Muc16	C	T	9: 18,548,594 (GRCm39)	D5900N	probably benign	Het
Myo15a	A	G	11: 60,368,088 (GRCm39)	N283D	probably benign	Het
Ncapg2	T	G	12: 116,379,098 (GRCm39)	D197E	possibly damaging	Het
Nipbl	T	C	15: 8,332,904 (GRCm39)	T2240A	probably benign	Het
Nrip1	A	C	16: 76,088,236 (GRCm39)	V1107G	possibly damaging	Het
Or13a19	T	C	7: 139,902,647 (GRCm39)	F12L	probably damaging	Het
Or4d5	G	A	9: 40,012,636 (GRCm39)	T50I	probably benign	Het
Or4f52	C	A	2: 111,061,834 (GRCm39)	M101I	probably benign	Het
Pcdhb11	T	A	18: 37,555,549 (GRCm39)	I293K	probably damaging	Het
Pcsk5	G	T	19: 17,432,138 (GRCm39)	H1492Q	probably benign	Het
Pdcd4	T	A	19: 53,899,405 (GRCm39)	Y131*	probably null	Het
Pdf	T	A	8: 107,773,796 (GRCm39)	M216L	probably damaging	Het
Pira13	A	T	7: 3,828,188 (GRCm39)	S40T		Het
Plch1	T	C	3: 63,778,106 (GRCm39)	H17R	possibly damaging	Het
Prkdc	T	G	16: 15,626,068 (GRCm39)	S3365A	probably benign	Het
Rab3c	T	C	13: 110,397,135 (GRCm39)	T44A	probably damaging	Het
Rad17	T	C	13: 100,765,998 (GRCm39)	T377A	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rnf215	T	G	11: 4,085,959 (GRCm39)		probably null	Het
Sec31b	G	A	19: 44,507,620 (GRCm39)	T808I	probably benign	Het
Selenbp1	A	T	3: 94,844,601 (GRCm39)	D86V	probably damaging	Het
Smurf2	G	T	11: 106,743,322 (GRCm39)	Y241*	probably null	Het
Spint1	T	C	2: 119,079,286 (GRCm39)	V456A	possibly damaging	Het
Spmap2	G	T	10: 79,419,581 (GRCm39)	N240K	possibly damaging	Het
Stx5a	A	T	19: 8,725,924 (GRCm39)	I175F	probably damaging	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tfb1m	T	C	17: 3,569,927 (GRCm39)	E313G	probably benign	Het
Thrb	A	G	14: 17,963,082 (GRCm38)	D15G	probably benign	Het
Tln2	T	C	9: 67,165,555 (GRCm39)	K1045R	probably damaging	Het
Tmx2	T	C	2: 84,505,745 (GRCm39)		probably benign	Het
Trabd	T	C	15: 88,969,152 (GRCm39)	I192T	probably damaging	Het
Try5	T	A	6: 41,288,637 (GRCm39)	D194V	probably damaging	Het
Ttc21a	A	G	9: 119,796,371 (GRCm39)	N1263S	probably benign	Het
Ttll13	T	C	7: 79,902,923 (GRCm39)	I197T	probably damaging	Het
Virma	T	C	4: 11,540,643 (GRCm39)		probably null	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
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'- ACACTGCATCCCACTAGTTGG -3'
(R):5'- CACTGTGCAGAGAAGGCTAG -3'

Sequencing Primer
(F):5'- TTGTGGATAACGCCTGCC -3'
(R):5'- GAGAAGGCTAGCCATATGAGTTTTCC -3'

Posted On

2021-03-08