Mutagenetix > Incidental Mutation

Incidental Mutation 'R9244:Chrnb3'

701158

Institutional Source

Beutler Lab

Gene Symbol

Chrnb3

Ensembl Gene

ENSMUSG00000031492

Gene Name

cholinergic receptor, nicotinic, beta polypeptide 3

Synonyms

Acrb3, 5730417K16Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9244 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27858739-27889758 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27884594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 444 (L444I)

Ref Sequence

ENSEMBL: ENSMUSP00000147672 (fasta)

Gene Model

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

AlphaFold

Q8BMN3

Predicted Effect

probably benign
Transcript: ENSMUST00000060943

SMART Domains

Protein: ENSMUSP00000052297
Gene: ENSMUSG00000031492

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 benign
Transcript: ENSMUST00000079463

SMART Domains

Protein: ENSMUSP00000078428
Gene: ENSMUSG00000031492

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

unknown
Transcript: ENSMUST00000211104
AA Change: L444I

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,241,577 (GRCm39)	I1147V	probably benign	Het
Adcy10	A	G	1: 165,370,679 (GRCm39)	T653A	probably benign	Het
App	A	G	16: 84,759,629 (GRCm39)	I656T	probably damaging	Het
Arnt	T	A	3: 95,397,879 (GRCm39)	I574N	possibly damaging	Het
Cdc42	T	C	4: 137,056,391 (GRCm39)	T75A	probably benign	Het
Cdh23	C	A	10: 60,249,442 (GRCm39)	K822N	possibly damaging	Het
Ctnnbl1	G	T	2: 157,678,583 (GRCm39)	K395N	possibly damaging	Het
Dmxl1	T	A	18: 50,026,316 (GRCm39)	I1808K	probably benign	Het
Dnajb8	C	A	6: 88,199,884 (GRCm39)	P140Q	probably damaging	Het
Dock5	G	A	14: 67,996,563 (GRCm39)	R1727W	probably damaging	Het
Dscam	G	A	16: 96,486,429 (GRCm39)	T1082I	possibly damaging	Het
Eaf1	T	C	14: 31,219,766 (GRCm39)		probably benign	Het
Elapor2	A	G	5: 9,460,700 (GRCm39)	Y207C	probably damaging	Het
Enpp3	T	C	10: 24,654,689 (GRCm39)	D663G	probably damaging	Het
Epha5	A	G	5: 84,265,441 (GRCm39)	V451A	probably benign	Het
Erap1	G	A	13: 74,821,903 (GRCm39)		probably null	Het
Esco2	A	G	14: 66,059,088 (GRCm39)	W530R	probably damaging	Het
Fhip1b	A	G	7: 105,038,870 (GRCm39)	V123A	possibly damaging	Het
Fhod3	T	C	18: 25,248,922 (GRCm39)	I1367T	probably damaging	Het
Fryl	T	C	5: 73,348,862 (GRCm39)		probably benign	Het
Get1	A	G	16: 95,955,383 (GRCm39)	T147A	probably benign	Het
Gm42669	A	G	5: 107,656,370 (GRCm39)	T295A	possibly damaging	Het
Harbi1	A	G	2: 91,543,040 (GRCm39)	N167S	probably damaging	Het
Hfm1	A	C	5: 107,022,766 (GRCm39)	N945K	probably damaging	Het
Hook3	A	G	8: 26,561,084 (GRCm39)		probably null	Het
Htr1f	G	T	16: 64,746,857 (GRCm39)	T145K	probably benign	Het
Igf2bp2	A	C	16: 21,886,901 (GRCm39)	S453A	possibly damaging	Het
Ipo4	A	T	14: 55,871,799 (GRCm39)	W116R	probably damaging	Het
Jak1	T	C	4: 101,015,040 (GRCm39)	H917R	probably benign	Het
Klrb1b	A	T	6: 128,792,245 (GRCm39)	C189*	probably null	Het
Lrrn2	A	G	1: 132,865,058 (GRCm39)	Y41C	probably damaging	Het
Lrrn2	T	C	1: 132,865,237 (GRCm39)	S101P	probably damaging	Het
Mcmdc2	C	T	1: 9,985,835 (GRCm39)	T127I	probably damaging	Het
Mtch1	C	A	17: 29,566,626 (GRCm39)	A46S	unknown	Het
Ndufb5	C	A	3: 32,795,906 (GRCm39)	Q33K	probably null	Het
Nufip2	T	C	11: 77,583,475 (GRCm39)	V463A	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or2r3	T	A	6: 42,448,537 (GRCm39)	I192F	possibly damaging	Het
Or5p62	A	G	7: 107,771,852 (GRCm39)	I33T	probably benign	Het
Or6d12	G	A	6: 116,492,782 (GRCm39)	V15I	probably benign	Het
Or8j3c	A	T	2: 86,253,423 (GRCm39)	V199E	probably damaging	Het
Pira13	T	C	7: 3,825,226 (GRCm39)	D472G	unknown	Het
Ppip5k1	A	C	2: 121,164,932 (GRCm39)	S972A	probably benign	Het
Prl8a2	A	T	13: 27,534,982 (GRCm39)	M86L	probably benign	Het
Prorsd1	T	C	11: 29,463,271 (GRCm39)	I164V	probably benign	Het
Ptgs1	A	G	2: 36,130,724 (GRCm39)	T208A	probably damaging	Het
Ptpn3	A	T	4: 57,254,915 (GRCm39)		probably null	Het
Reln	T	C	5: 22,120,151 (GRCm39)	R2834G	probably damaging	Het
Shc4	G	T	2: 125,497,589 (GRCm39)	Y373*	probably null	Het
Skor1	A	T	9: 63,049,524 (GRCm39)		probably null	Het
Slc9a4	T	C	1: 40,658,249 (GRCm39)	S591P	probably damaging	Het
Stat2	A	G	10: 128,118,634 (GRCm39)	E389G	possibly damaging	Het
Trav14n-3	C	A	14: 53,608,004 (GRCm39)	D111E	probably damaging	Het
Unc5c	A	G	3: 141,533,370 (GRCm39)	S873G	probably benign	Het
Vmn1r210	T	C	13: 23,012,089 (GRCm39)	I66V	probably benign	Het
Vmn2r117	T	A	17: 23,696,589 (GRCm39)	I273F	probably damaging	Het
Vmn2r95	T	A	17: 18,672,189 (GRCm39)	M714K	possibly damaging	Het
Zfp235	A	G	7: 23,839,919 (GRCm39)	T113A	probably benign	Het
Zranb1	T	G	7: 132,585,640 (GRCm39)	L696R	probably damaging	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
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
R9459:Chrnb3	UTSW	8	27,883,884 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GAAGCAGACTCCTACCAGTG -3'
(R):5'- GTACACTAGGTAAGACCAGGACAAC -3'

Sequencing Primer
(F):5'- CAGACTCCTACCAGTGATGGAG -3'
(R):5'- GGACAACCCATTTAAAGGTGC -3'

Posted On

2022-03-25