Mutagenetix > Incidental Mutation

Incidental Mutation 'R4422:Chrnb3'

327151

Institutional Source

Beutler Lab

Gene Symbol

Chrnb3

Ensembl Gene

ENSMUSG00000031492

Gene Name

cholinergic receptor, nicotinic, beta polypeptide 3

Synonyms

Acrb3, 5730417K16Rik

MMRRC Submission

041695-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R4422 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27858739-27889758 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27886761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 445 (V445A)

Ref Sequence

ENSEMBL: ENSMUSP00000052297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060943] [ENSMUST00000079463] [ENSMUST00000211104]

AlphaFold

Q8BMN3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060943
AA Change: V445A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000052297
Gene: ENSMUSG00000031492
AA Change: V445A

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	35	239	2.3e-75	PFAM
Pfam:Neur_chan_memb	246	452	1.9e-65	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079463
AA Change: V430A

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000078428
Gene: ENSMUSG00000031492
AA Change: V430A

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	35	224	1.3e-57	PFAM
Pfam:Neur_chan_memb	231	374	4.3e-48	PFAM
Pfam:Neur_chan_memb	349	437	9.7e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211104

Meta Mutation Damage Score

0.2735

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (67/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are (hetero)pentamers composed of homologous subunits. The subunits that make up the muscle and neuronal forms of nAChRs are encoded by separate genes and have different primary structure. There are several subtypes of neuronal nAChRs that vary based on which homologous subunits are arranged around the central channel. They are classified as alpha-subunits if, like muscle alpha-1 (MIM 100690), they have a pair of adjacent cysteines as part of the presumed acetylcholine binding site. Subunits lacking these cysteine residues are classified as beta-subunits (Groot Kormelink and Luyten, 1997 [PubMed 9009220]). Elliott et al. (1996) [PubMed 8906617] stated that the proposed structure for each subunit is a conserved N-terminal extracellular domain followed by 3 conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region.[supplied by OMIM, Apr 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display hyperactivity and reflex abnormalities but were otherwise phenotypically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	T	C	2: 26,895,412 (GRCm39)	S1168P	probably benign	Het
Adgrf2	T	C	17: 43,024,046 (GRCm39)	M142V	probably benign	Het
Akna	G	T	4: 63,305,330 (GRCm39)	Q479K	possibly damaging	Het
Arhgef9	T	G	X: 94,144,670 (GRCm39)	I131L	possibly damaging	Het
AW551984	A	T	9: 39,511,373 (GRCm39)	C111S	probably null	Het
Bak1	C	A	17: 27,240,298 (GRCm39)	G130W	probably damaging	Het
Bank1	T	A	3: 135,788,972 (GRCm39)	Q441L	probably damaging	Het
C030034I22Rik	T	C	17: 69,725,153 (GRCm39)		noncoding transcript	Het
Capns2	T	A	8: 93,628,252 (GRCm39)	I47N	possibly damaging	Het
Cct7	A	G	6: 85,444,127 (GRCm39)	R355G	probably damaging	Het
Cd19	C	T	7: 126,012,578 (GRCm39)	V272I	probably benign	Het
Cenpf	A	G	1: 189,390,547 (GRCm39)	L1095S	probably damaging	Het
Cep44	G	A	8: 56,991,652 (GRCm39)	P317S	probably benign	Het
Chrm3	A	T	13: 9,928,591 (GRCm39)	Y148*	probably null	Het
Col4a4	T	A	1: 82,467,559 (GRCm39)	M852L	unknown	Het
Dhx29	T	C	13: 113,083,781 (GRCm39)	L612P	probably damaging	Het
Dlgap2	T	C	8: 14,793,463 (GRCm39)		probably null	Het
Dnah17	T	C	11: 117,972,799 (GRCm39)	T2045A	possibly damaging	Het
Dync1li1	A	G	9: 114,538,377 (GRCm39)	T245A	probably damaging	Het
Epha4	T	C	1: 77,488,354 (GRCm39)	E42G	probably damaging	Het
Fam120b	C	A	17: 15,622,445 (GRCm39)	T141K	probably damaging	Het
Fhod1	T	C	8: 106,063,983 (GRCm39)		probably benign	Het
Gcnt2	T	G	13: 41,014,001 (GRCm39)	Y57*	probably null	Het
Gm5409	C	T	6: 41,396,519 (GRCm39)		noncoding transcript	Het
Hip1r	A	G	5: 124,135,069 (GRCm39)	K402E	possibly damaging	Het
Hlcs	G	A	16: 93,939,819 (GRCm39)	P506L	possibly damaging	Het
Itih4	T	A	14: 30,611,821 (GRCm39)	F142I	probably damaging	Het
Krt78	T	C	15: 101,856,375 (GRCm39)	T479A	probably benign	Het
Lamb2	A	G	9: 108,360,754 (GRCm39)	D518G	probably damaging	Het
Ldlr	G	A	9: 21,649,248 (GRCm39)	C341Y	probably damaging	Het
Lsr	G	T	7: 30,665,422 (GRCm39)	N177K	probably benign	Het
Macf1	G	A	4: 123,359,839 (GRCm39)	S1815F	probably damaging	Het
Mms22l	T	C	4: 24,503,008 (GRCm39)	S95P	probably damaging	Het
Mon2	A	G	10: 122,878,887 (GRCm39)	L218P	probably damaging	Het
Nlrp4f	C	T	13: 65,332,776 (GRCm39)		probably null	Het
Nrde2	G	A	12: 100,112,286 (GRCm39)	Q137*	probably null	Het
Or12e10	C	A	2: 87,640,989 (GRCm39)	T275K	probably damaging	Het
Or51l14	G	T	7: 103,101,450 (GRCm39)	R302L	probably damaging	Het
Or6z7	G	T	7: 6,484,037 (GRCm39)	Y39*	probably null	Het
Phf24	G	A	4: 42,934,817 (GRCm39)	C151Y	probably damaging	Het
Pik3r1	T	G	13: 101,830,892 (GRCm39)	N3T	probably benign	Het
Plcb2	T	C	2: 118,542,484 (GRCm39)	K821E	probably benign	Het
Ppat	A	G	5: 77,063,061 (GRCm39)	W517R	probably damaging	Het
Prelid2	T	C	18: 42,045,461 (GRCm39)	T150A	probably benign	Het
Psg21	A	G	7: 18,381,257 (GRCm39)	S429P	probably damaging	Het
Reg4	T	C	3: 98,140,360 (GRCm39)	Y114H	possibly damaging	Het
Rsbn1l	G	T	5: 21,101,544 (GRCm39)	H665Q	probably damaging	Het
Rspo2	T	C	15: 43,033,150 (GRCm39)	N24S	probably benign	Het
Ryr2	G	T	13: 11,731,952 (GRCm39)	C2329*	probably null	Het
Skint2	T	A	4: 112,441,785 (GRCm39)		probably benign	Het
Spmap2l	T	C	5: 77,202,383 (GRCm39)	I268T	possibly damaging	Het
Syvn1	C	T	19: 6,099,951 (GRCm39)		probably benign	Het
Tmem53	T	C	4: 117,123,149 (GRCm39)	Y37H	probably damaging	Het
Tmem59l	G	A	8: 70,938,749 (GRCm39)	R111W	probably damaging	Het
Tnks2	G	A	19: 36,823,053 (GRCm39)	V107I	probably damaging	Het
Tpcn1	T	C	5: 120,680,583 (GRCm39)	K549R	probably damaging	Het
Tubgcp4	T	A	2: 121,019,882 (GRCm39)	L404*	probably null	Het
Vmn2r86	T	C	10: 130,288,845 (GRCm39)	I219V	possibly damaging	Het
Vsig10	T	C	5: 117,462,986 (GRCm39)	S71P	probably benign	Het
Wnk1	T	C	6: 119,930,856 (GRCm39)	N896S	probably benign	Het
Zfp871	T	A	17: 32,993,808 (GRCm39)	S437C	probably benign	Het
Zfp871	C	A	17: 32,993,807 (GRCm39)	S456I	probably benign	Het
Zfp873	A	G	10: 81,896,708 (GRCm39)	T480A	probably benign	Het

Other mutations in Chrnb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Chrnb3	APN	8	27,875,129 (GRCm39)	missense	probably benign	0.13
IGL01655:Chrnb3	APN	8	27,884,202 (GRCm39)	missense	probably damaging	1.00
IGL02124:Chrnb3	APN	8	27,886,832 (GRCm39)	unclassified	probably benign
IGL02403:Chrnb3	APN	8	27,883,836 (GRCm39)	missense	probably damaging	1.00
IGL02474:Chrnb3	APN	8	27,883,397 (GRCm39)	missense	probably damaging	1.00
IGL02903:Chrnb3	APN	8	27,876,834 (GRCm39)	missense	probably damaging	0.96
R0178:Chrnb3	UTSW	8	27,883,392 (GRCm39)	missense	probably damaging	1.00
R0736:Chrnb3	UTSW	8	27,875,078 (GRCm39)	missense	probably benign	0.00
R1695:Chrnb3	UTSW	8	27,883,728 (GRCm39)	missense	probably damaging	1.00
R2051:Chrnb3	UTSW	8	27,876,839 (GRCm39)	missense	probably damaging	1.00
R2091:Chrnb3	UTSW	8	27,884,262 (GRCm39)	missense	probably damaging	1.00
R2313:Chrnb3	UTSW	8	27,883,809 (GRCm39)	missense	probably damaging	1.00
R3020:Chrnb3	UTSW	8	27,886,812 (GRCm39)	missense	probably benign
R3981:Chrnb3	UTSW	8	27,884,034 (GRCm39)	missense	probably damaging	1.00
R4236:Chrnb3	UTSW	8	27,884,021 (GRCm39)	missense	probably damaging	1.00
R4276:Chrnb3	UTSW	8	27,883,779 (GRCm39)	missense	probably damaging	1.00
R4515:Chrnb3	UTSW	8	27,875,118 (GRCm39)	missense	probably damaging	1.00
R4688:Chrnb3	UTSW	8	27,884,147 (GRCm39)	missense	probably damaging	1.00
R4931:Chrnb3	UTSW	8	27,884,258 (GRCm39)	missense	probably damaging	0.99
R5164:Chrnb3	UTSW	8	27,884,160 (GRCm39)	missense	probably damaging	1.00
R6333:Chrnb3	UTSW	8	27,883,355 (GRCm39)	missense	probably damaging	0.96
R6454:Chrnb3	UTSW	8	27,883,403 (GRCm39)	missense	probably damaging	1.00
R7070:Chrnb3	UTSW	8	27,883,989 (GRCm39)	missense	probably damaging	1.00
R8060:Chrnb3	UTSW	8	27,884,588 (GRCm39)	missense	unknown
R8156:Chrnb3	UTSW	8	27,883,682 (GRCm39)	missense	probably benign	0.13
R8421:Chrnb3	UTSW	8	27,886,718 (GRCm39)	missense	probably damaging	1.00
R8884:Chrnb3	UTSW	8	27,883,946 (GRCm39)	missense	possibly damaging	0.90
R9244:Chrnb3	UTSW	8	27,884,594 (GRCm39)	missense	unknown
R9459:Chrnb3	UTSW	8	27,883,884 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGTGATGAACAACTTCTCTGGATAG -3'
(R):5'- GCACCACAACTGTTGCATGC -3'

Sequencing Primer
(F):5'- CCAACAGTGATGTGTAGATACATTTG -3'
(R):5'- ATGCAACTCCTTTCTGTGAACACAC -3'

Posted On

2015-07-07