Mutagenetix > Incidental Mutation

Incidental Mutation 'R2095:Chrnb2'

232024

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

040099-MU

Accession Numbers

Essential gene?

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

Stock #

R2095 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89660755-89671939 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89668744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 190 (D190E)

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: D190E

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

SMART Domains

Protein: ENSMUSP00000029562
Gene: ENSMUSG00000027950
AA Change: D190E

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: ENSMUST00000199372

Predicted Effect

probably benign
Transcript: ENSMUST00000200558
AA Change: D190E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000143441
Gene: ENSMUSG00000027950
AA Change: D190E

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

97% (58/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	C	A	4: 122,596,151 (GRCm39)	Y127*	probably null	Het
Adam33	C	T	2: 130,895,629 (GRCm39)	G562D	probably damaging	Het
Adh1	T	C	3: 137,988,557 (GRCm39)	F177L	probably damaging	Het
Arhgef17	T	C	7: 100,530,470 (GRCm39)	T1439A	probably damaging	Het
Arl5c	C	T	11: 97,884,277 (GRCm39)	E105K	probably damaging	Het
Armc3	T	A	2: 19,293,740 (GRCm39)	D510E	possibly damaging	Het
Bbx	T	C	16: 50,045,052 (GRCm39)	E395G	possibly damaging	Het
Cacna2d2	G	A	9: 107,404,364 (GRCm39)	E1087K	probably benign	Het
Casq1	T	C	1: 172,043,529 (GRCm39)	N113S	probably benign	Het
Cbfa2t3	A	G	8: 123,361,727 (GRCm39)	S432P	probably benign	Het
Ccn2	T	C	10: 24,472,377 (GRCm39)	V140A	probably benign	Het
Cd163	A	G	6: 124,294,781 (GRCm39)	D615G	probably damaging	Het
Clec9a	T	C	6: 129,393,321 (GRCm39)	L115P	possibly damaging	Het
Cluh	C	T	11: 74,552,550 (GRCm39)	R532*	probably null	Het
Cntnap5a	T	A	1: 116,369,990 (GRCm39)	L869Q	probably damaging	Het
Cyp3a57	A	T	5: 145,305,944 (GRCm39)	K143*	probably null	Het
Dcaf12	G	T	4: 41,294,085 (GRCm39)	H351N	probably benign	Het
Dtna	T	A	18: 23,702,805 (GRCm39)	L112Q	probably damaging	Het
Fnta	G	A	8: 26,489,907 (GRCm39)	Q303*	probably null	Het
Frs2	T	C	10: 116,910,507 (GRCm39)	E285G	probably benign	Het
Gabra4	T	C	5: 71,781,455 (GRCm39)	I293V	probably damaging	Het
Gm2431	A	T	7: 141,811,518 (GRCm39)	C129S	unknown	Het
Gnl2	C	T	4: 124,928,111 (GRCm39)	R49C	probably damaging	Het
Helz	T	A	11: 107,536,972 (GRCm39)	Y275N	probably damaging	Het
Hydin	A	G	8: 111,189,289 (GRCm39)	E1231G	probably damaging	Het
Kctd11	T	A	11: 69,770,402 (GRCm39)	D212V	probably damaging	Het
Klf3	T	A	5: 64,979,245 (GRCm39)	M29K	probably benign	Het
Klhl21	T	C	4: 152,093,850 (GRCm39)	S151P	probably benign	Het
Lsm14b	A	T	2: 179,673,580 (GRCm39)		probably benign	Het
Mlxipl	T	C	5: 135,150,974 (GRCm39)		probably benign	Het
Mov10	G	A	3: 104,708,847 (GRCm39)	R389C	probably damaging	Het
Msh6	A	G	17: 88,295,661 (GRCm39)	M1071V	possibly damaging	Het
Myh8	G	T	11: 67,177,050 (GRCm39)	A401S	probably benign	Het
Ndufv3	T	C	17: 31,746,460 (GRCm39)	S117P	possibly damaging	Het
Obscn	A	T	11: 58,984,410 (GRCm39)		probably null	Het
Or1e22	T	A	11: 73,377,420 (GRCm39)	T77S	probably damaging	Het
Or2l13	T	C	16: 19,305,681 (GRCm39)	I31T	probably benign	Het
Or4c11c	T	C	2: 88,661,634 (GRCm39)	Y58H	probably damaging	Het
Or8g50	T	A	9: 39,648,557 (GRCm39)	Y149N	probably damaging	Het
Pcdhb17	T	A	18: 37,619,375 (GRCm39)	D388E	probably benign	Het
Pgm3	T	C	9: 86,438,394 (GRCm39)	T423A	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
S1pr5	T	A	9: 21,156,154 (GRCm39)	T91S	probably benign	Het
Sgcz	T	C	8: 38,007,546 (GRCm39)		probably benign	Het
Slc33a1	A	G	3: 63,871,376 (GRCm39)	L79P	probably damaging	Het
Slco2a1	A	G	9: 102,954,167 (GRCm39)	T383A	probably benign	Het
Slit1	G	A	19: 41,594,819 (GRCm39)	R1184W	probably damaging	Het
Spta1	T	A	1: 174,071,764 (GRCm39)	M2248K	possibly damaging	Het
Stub1	A	G	17: 26,049,864 (GRCm39)	Y304H	probably damaging	Het
Taar7e	T	A	10: 23,913,949 (GRCm39)	Y146*	probably null	Het
Tbc1d1	C	T	5: 64,473,844 (GRCm39)	S660L	probably benign	Het
Tcea2	C	A	2: 181,328,725 (GRCm39)	F259L	probably damaging	Het
Tcp11l1	T	A	2: 104,512,185 (GRCm39)	K482N	probably damaging	Het
Trpv6	C	T	6: 41,598,690 (GRCm39)	R645Q	probably damaging	Het
Uaca	T	A	9: 60,748,125 (GRCm39)	S30T	probably benign	Het
Ubap2	C	G	4: 41,206,901 (GRCm39)	V492L	possibly damaging	Het
Ube3c	T	C	5: 29,873,038 (GRCm39)	F1026S	probably damaging	Het
Vmn2r8	T	G	5: 108,956,487 (GRCm39)	D45A	possibly damaging	Het
Zfp738	G	T	13: 67,819,422 (GRCm39)	L180I	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTTCACCACAGTCTGAGGGC -3'
(R):5'- TATTCCAATGCTGTGGTCTCCTATG -3'

Sequencing Primer
(F):5'- CCACAGTCTGAGGGCAGGTAG -3'
(R):5'- GGTCTCCTATGATGGCAGCATC -3'

Posted On

2014-09-18