Mutagenetix > Incidental Mutation

Incidental Mutation 'R1695:Chrnb3'

192131

Institutional Source

Beutler Lab

Gene Symbol

Chrnb3

Ensembl Gene

ENSMUSG00000031492

Gene Name

cholinergic receptor, nicotinic, beta polypeptide 3

Synonyms

Acrb3, 5730417K16Rik

MMRRC Submission

039728-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R1695 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27858739-27889758 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27883728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 155 (Y155C)

Ref Sequence

ENSEMBL: ENSMUSP00000147672 (fasta)

Gene Model

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

AlphaFold

Q8BMN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000060943
AA Change: Y155C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000052297
Gene: ENSMUSG00000031492
AA Change: Y155C

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

probably damaging
Transcript: ENSMUST00000079463
AA Change: Y140C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078428
Gene: ENSMUSG00000031492
AA Change: Y140C

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 damaging
Transcript: ENSMUST00000211104
AA Change: Y155C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	T	A	5: 121,638,970 (GRCm39)	T692S	probably benign	Het
Adgrf3	T	A	5: 30,408,553 (GRCm39)	N75I	probably benign	Het
Adgrg5	A	G	8: 95,664,373 (GRCm39)	M328V	probably damaging	Het
Adk	A	G	14: 21,431,668 (GRCm39)	D286G	probably benign	Het
Ankrd28	T	A	14: 31,429,201 (GRCm39)	D917V	probably damaging	Het
Appl2	C	T	10: 83,457,446 (GRCm39)	D141N	probably damaging	Het
Arfgef2	T	C	2: 166,706,632 (GRCm39)	V952A	probably damaging	Het
Arpc2	T	A	1: 74,287,391 (GRCm39)	H70Q	probably damaging	Het
Bpifa5	T	C	2: 154,009,580 (GRCm39)	L261P	probably damaging	Het
Brca1	G	T	11: 101,415,281 (GRCm39)	T951K	probably damaging	Het
Ccdc73	A	T	2: 104,822,450 (GRCm39)	S800C	probably damaging	Het
Cdh15	C	G	8: 123,588,755 (GRCm39)	D276E	probably benign	Het
Cfap119	A	G	7: 127,186,745 (GRCm39)		probably null	Het
Cfap418	T	A	4: 10,874,644 (GRCm39)	D10E	probably damaging	Het
Cfh	T	C	1: 140,030,575 (GRCm39)	I551V	probably damaging	Het
Chd7	T	A	4: 8,833,960 (GRCm39)	L1238Q	probably damaging	Het
Chd9	T	G	8: 91,728,410 (GRCm39)	F1275L	probably damaging	Het
Cltc	C	A	11: 86,591,886 (GRCm39)		probably null	Het
Ctsll3	T	A	13: 60,948,791 (GRCm39)	N55Y	probably damaging	Het
Cysltr2	T	C	14: 73,267,321 (GRCm39)	M130V	probably benign	Het
Daglb	T	C	5: 143,480,361 (GRCm39)	M455T	probably benign	Het
Dbn1	A	G	13: 55,624,521 (GRCm39)	S343P	probably benign	Het
Dnah2	T	A	11: 69,405,517 (GRCm39)	D665V	possibly damaging	Het
Dusp6	T	A	10: 99,099,555 (GRCm39)	M1K	probably null	Het
Eif3m	T	C	2: 104,847,298 (GRCm39)	E12G	probably damaging	Het
Epha2	T	C	4: 141,033,828 (GRCm39)	V29A	possibly damaging	Het
Farp2	T	A	1: 93,488,047 (GRCm39)	N91K	probably damaging	Het
Ferd3l	C	A	12: 33,978,971 (GRCm39)	S161R	probably benign	Het
Fgd2	A	T	17: 29,587,219 (GRCm39)	D315V	possibly damaging	Het
Fhip2a	T	C	19: 57,367,603 (GRCm39)	W337R	probably damaging	Het
Fstl4	T	A	11: 53,056,705 (GRCm39)		probably null	Het
Grm5	A	G	7: 87,685,311 (GRCm39)	D476G	possibly damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hdlbp	A	G	1: 93,364,922 (GRCm39)	L115P	probably damaging	Het
Hk2	T	A	6: 82,721,932 (GRCm39)	N136Y	probably damaging	Het
Hs2st1	G	T	3: 144,140,415 (GRCm39)	A302E	probably benign	Het
Htr7	T	C	19: 35,947,136 (GRCm39)	N293D	probably benign	Het
Ikbkb	T	A	8: 23,163,496 (GRCm39)	E271D	probably benign	Het
Il5ra	A	T	6: 106,715,335 (GRCm39)	Y166*	probably null	Het
Il9r	T	A	11: 32,143,227 (GRCm39)	H244L	probably benign	Het
Itih4	T	C	14: 30,613,456 (GRCm39)		probably null	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Large1	A	T	8: 73,544,710 (GRCm39)	D689E	probably damaging	Het
Limk2	A	G	11: 3,303,275 (GRCm39)		probably null	Het
Med15	A	G	16: 17,540,644 (GRCm39)	F34S	probably damaging	Het
Mprip	C	T	11: 59,643,357 (GRCm39)	T505I	probably damaging	Het
Mtor	T	A	4: 148,623,364 (GRCm39)	N2071K	probably benign	Het
Muc16	A	G	9: 18,408,729 (GRCm39)	L2522P	probably damaging	Het
Myd88	A	T	9: 119,166,908 (GRCm39)		probably null	Het
Myo7a	A	C	7: 97,741,703 (GRCm39)	F484V	possibly damaging	Het
Nme1	A	C	11: 93,851,593 (GRCm39)	L81R	probably benign	Het
Ntn4	T	A	10: 93,569,464 (GRCm39)		probably null	Het
Or2y13	T	C	11: 49,415,162 (GRCm39)	V204A	probably benign	Het
Or4p19	T	C	2: 88,242,444 (GRCm39)	D186G	probably damaging	Het
Or51l4	A	T	7: 103,404,131 (GRCm39)	Y220*	probably null	Het
Otogl	T	G	10: 107,649,878 (GRCm39)	N1159T	probably damaging	Het
Pabpc6	G	A	17: 9,887,003 (GRCm39)	T516I	probably benign	Het
Pcdh1	C	T	18: 38,335,921 (GRCm39)	R238H	probably damaging	Het
Pex5l	T	A	3: 33,008,531 (GRCm39)	N151I	probably benign	Het
Plekha7	T	C	7: 115,727,920 (GRCm39)	N980S	probably damaging	Het
Reg4	C	T	3: 98,143,677 (GRCm39)	T157I	probably benign	Het
Rev3l	A	T	10: 39,700,612 (GRCm39)	E1703V	probably damaging	Het
Rev3l	G	T	10: 39,700,611 (GRCm39)	E1703*	probably null	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Saal1	T	C	7: 46,342,340 (GRCm39)	K368E	probably damaging	Het
Scn9a	C	T	2: 66,335,220 (GRCm39)	W1245*	probably null	Het
Slc38a11	T	A	2: 65,147,315 (GRCm39)	L387F	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Sptb	C	A	12: 76,667,641 (GRCm39)	V819L	probably benign	Het
Sptbn1	T	C	11: 30,086,124 (GRCm39)	T1195A	probably benign	Het
Ssna1	C	A	2: 25,162,024 (GRCm39)	V57F	possibly damaging	Het
Stk32a	G	T	18: 43,446,485 (GRCm39)	E312*	probably null	Het
Synpo	A	G	18: 60,736,459 (GRCm39)	F496L	probably benign	Het
Syt15	C	T	14: 33,944,858 (GRCm39)	T135M	probably benign	Het
Tm9sf4	A	G	2: 153,032,832 (GRCm39)	E246G	probably benign	Het
Trim44	T	C	2: 102,187,830 (GRCm39)	M308V	possibly damaging	Het
Unc119b	T	A	5: 115,272,885 (GRCm39)	K29*	probably null	Het
Vim	T	A	2: 13,584,921 (GRCm39)	D367E	probably benign	Het
Virma	T	A	4: 11,494,814 (GRCm39)	N38K	probably damaging	Het
Vmn1r228	A	T	17: 20,996,560 (GRCm39)	D319E	possibly damaging	Het
Vmn2r32	T	A	7: 7,466,991 (GRCm39)	I846F	probably benign	Het
Vps13b	T	C	15: 35,576,667 (GRCm39)	V1025A	probably benign	Het
Vps13c	G	T	9: 67,879,357 (GRCm39)	E566*	probably null	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
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
R4422:Chrnb3	UTSW	8	27,886,761 (GRCm39)	missense	possibly damaging	0.84
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'- CGATAAAGGTTCCATCGGAGTCGC -3'
(R):5'- TTCGTCGGAGGGTAGGTAGAACAC -3'

Sequencing Primer
(F):5'- TTGGTCAGACTAACACCAGATG -3'
(R):5'- AGGAGTAAAAGCCTTCTCTTCTG -3'

Posted On

2014-05-14