Mutagenetix > Incidental Mutation

Incidental Mutation 'R7826:Chrnb2'

602172

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

045880-MU

Accession Numbers

Essential gene?

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

Stock #

R7826 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89660755-89671939 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89670550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 63 (S63T)

Ref Sequence

ENSEMBL: ENSMUSP00000143441 (fasta)

Gene Model

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

AlphaFold

Q9ERK7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029562
AA Change: S63T

PolyPhen 2 Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029562
Gene: ENSMUSG00000027950
AA Change: S63T

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: S63T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143441
Gene: ENSMUSG00000027950
AA Change: S63T

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: 99.8%
20x: 99.4%

Validation Efficiency

100% (60/60)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ajm1	C	A	2: 25,468,477 (GRCm39)	R478L	possibly damaging	Het
Arhgap27	T	C	11: 103,229,153 (GRCm39)	T521A	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Btbd9	A	T	17: 30,553,301 (GRCm39)	I387N	probably benign	Het
Ccdc27	C	T	4: 154,123,958 (GRCm39)		probably null	Het
Ccdc88a	A	T	11: 29,453,563 (GRCm39)	H1642L	probably benign	Het
Cd300c2	C	T	11: 114,891,644 (GRCm39)	V77I	possibly damaging	Het
Dlgap2	C	T	8: 14,793,410 (GRCm39)	P467L	probably benign	Het
Dnah5	C	T	15: 28,367,958 (GRCm39)	T2781M	probably damaging	Het
Donson	T	C	16: 91,485,344 (GRCm39)	D86G	possibly damaging	Het
Echs1	T	A	7: 139,696,349 (GRCm39)		probably benign	Het
Epha8	C	T	4: 136,663,498 (GRCm39)	M483I	probably benign	Het
Eprs1	T	G	1: 185,139,165 (GRCm39)	V850G	probably damaging	Het
Fbxw5	C	A	2: 25,392,561 (GRCm39)	C114*	probably null	Het
Gm5160	C	T	18: 14,558,129 (GRCm39)	R69C	probably benign	Het
Gpr75	A	G	11: 30,841,209 (GRCm39)	H38R	probably damaging	Het
Igsf9	T	C	1: 172,319,197 (GRCm39)	V230A	probably benign	Het
Lonp2	C	T	8: 87,435,641 (GRCm39)	P626S	probably damaging	Het
Lrrtm1	G	T	6: 77,221,095 (GRCm39)		probably null	Het
Man1a2	T	C	3: 100,489,455 (GRCm39)	E508G	probably damaging	Het
Mipep	C	A	14: 61,039,580 (GRCm39)	A203E	probably damaging	Het
Mrc1	T	A	2: 14,299,668 (GRCm39)	C753S	probably damaging	Het
Mthfr	A	G	4: 148,139,467 (GRCm39)	E568G	probably benign	Het
Naca	T	A	10: 127,879,479 (GRCm39)		probably benign	Het
Nek10	G	A	14: 14,860,846 (GRCm38)		probably null	Het
Nf2	T	C	11: 4,739,750 (GRCm39)	T419A	probably benign	Het
Npas3	A	G	12: 53,878,539 (GRCm39)	T164A	possibly damaging	Het
Nudcd3	T	A	11: 6,100,581 (GRCm39)	I124F	possibly damaging	Het
Or8g33	A	G	9: 39,337,423 (GRCm39)	*315Q	probably null	Het
Pappa2	A	T	1: 158,764,010 (GRCm39)	C500*	probably null	Het
Pcdhb18	T	A	18: 37,623,995 (GRCm39)	S442T	probably damaging	Het
Phactr4	T	C	4: 132,105,752 (GRCm39)	N105D	possibly damaging	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,582 (GRCm39)		probably benign	Het
Pzp	T	C	6: 128,464,496 (GRCm39)	T1344A	probably benign	Het
Ranbp9	T	C	13: 43,573,097 (GRCm39)	I312V	possibly damaging	Het
Rsf1	A	G	7: 97,310,368 (GRCm39)		probably benign	Het
Slc6a4	A	T	11: 76,903,851 (GRCm39)	I150L	probably benign	Het
Smpd5	T	C	15: 76,180,496 (GRCm39)	S433P	probably benign	Het
Spats1	C	T	17: 45,763,644 (GRCm39)	D209N	probably damaging	Het
Spcs2	C	T	7: 99,488,984 (GRCm39)	G235R	probably damaging	Het
Sptlc3	T	C	2: 139,389,115 (GRCm39)	M165T	probably benign	Het
Synm	T	C	7: 67,385,337 (GRCm39)	D775G	probably damaging	Het
Tango6	A	G	8: 107,419,245 (GRCm39)	D264G	probably benign	Het
Tbc1d30	A	T	10: 121,132,710 (GRCm39)	L218H	probably damaging	Het
Tmem132d	A	G	5: 127,866,953 (GRCm39)	I649T	probably damaging	Het
Tmem145	T	C	7: 25,006,939 (GRCm39)	Y114H	probably damaging	Het
Triml1	A	T	8: 43,591,803 (GRCm39)	V185E	possibly damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttn	T	G	2: 76,715,220 (GRCm39)		probably benign	Het
Utrn	C	T	10: 12,277,050 (GRCm39)		probably null	Het
Uty	T	C	Y: 1,137,716 (GRCm39)	K887E	possibly damaging	Het
Zfand2b	T	C	1: 75,145,502 (GRCm39)	F3L	possibly damaging	Het
Zfp280d	C	A	9: 72,219,953 (GRCm39)	Q243K	possibly damaging	Het
Zfp418	T	C	7: 7,185,668 (GRCm39)	F544L	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
R7318:Chrnb2	UTSW	3	89,670,674 (GRCm39)	critical splice acceptor site	probably null
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'- CTCGTGCTGCAGGAAAACAG -3'
(R):5'- GAGGCTATGACTTCCAGACTC -3'

Sequencing Primer
(F):5'- AAACAGGGCAGCTGCTG -3'
(R):5'- GACTTCCAGACTCCCTGAGCATG -3'

Posted On

2019-12-03