Mutagenetix > Incidental Mutation

Incidental Mutation 'R4688:Chrnb3'

353868

Institutional Source

Beutler Lab

Gene Symbol

Chrnb3

Ensembl Gene

ENSMUSG00000031492

Gene Name

cholinergic receptor, nicotinic, beta polypeptide 3

Synonyms

Acrb3, 5730417K16Rik

MMRRC Submission

041939-MU

Accession Numbers

Essential gene?

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

Stock #

R4688 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27858739-27889758 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27884147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 295 (S295P)

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: S295P

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

SMART Domains

Protein: ENSMUSP00000052297
Gene: ENSMUSG00000031492
AA Change: S295P

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: S280P

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

SMART Domains

Protein: ENSMUSP00000078428
Gene: ENSMUSG00000031492
AA Change: S280P

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: S295P

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,139,680 (GRCm39)	N535S	probably damaging	Het
Abcc12	T	C	8: 87,275,323 (GRCm39)	S452G	possibly damaging	Het
Acacb	C	A	5: 114,342,824 (GRCm39)	Q897K	probably benign	Het
Acot3	C	A	12: 84,100,691 (GRCm39)	R145S	probably damaging	Het
Ankrd54	A	T	15: 78,938,782 (GRCm39)	Y247N	probably damaging	Het
Arl11	G	A	14: 61,548,546 (GRCm39)	V119I	probably benign	Het
Atosb	A	G	4: 43,034,663 (GRCm39)	F352S	probably damaging	Het
Atxn7	T	A	14: 14,089,288 (GRCm38)	M268K	probably benign	Het
Bms1	G	A	6: 118,369,667 (GRCm39)	R934C	probably damaging	Het
Brd10	A	G	19: 29,694,501 (GRCm39)	I1664T	probably benign	Het
Cic	TCCCCC	TCCCCCCC	7: 24,991,095 (GRCm39)		probably null	Het
Cnr1	A	T	4: 33,944,571 (GRCm39)	I320F	probably benign	Het
Cntn4	C	T	6: 106,414,910 (GRCm39)	P147L	probably damaging	Het
Col24a1	G	A	3: 145,020,144 (GRCm39)	V172I	probably benign	Het
Col9a3	A	G	2: 180,249,424 (GRCm39)	D262G	probably damaging	Het
Csrnp2	A	G	15: 100,380,241 (GRCm39)	V350A	probably damaging	Het
D630045J12Rik	A	G	6: 38,173,592 (GRCm39)	V192A	possibly damaging	Het
Deptor	A	G	15: 55,072,177 (GRCm39)	M219V	probably benign	Het
Dmrtb1	A	T	4: 107,541,247 (GRCm39)	L38Q	probably damaging	Het
Dvl2	G	A	11: 69,898,344 (GRCm39)	R367Q	possibly damaging	Het
Dync1h1	T	G	12: 110,621,962 (GRCm39)	I3435S	probably damaging	Het
Ecpas	A	G	4: 58,840,757 (GRCm39)	V667A	probably damaging	Het
Eif2b3	A	G	4: 116,916,046 (GRCm39)	N218D	probably benign	Het
Epha2	A	G	4: 141,046,292 (GRCm39)	D497G	probably benign	Het
Epha7	G	T	4: 28,821,367 (GRCm39)	L177F	probably damaging	Het
Fam98c	C	T	7: 28,854,666 (GRCm39)	E147K	probably damaging	Het
Fbxo17	A	G	7: 28,431,979 (GRCm39)	T19A	probably benign	Het
Fbxo47	A	G	11: 97,747,049 (GRCm39)	F339S	probably damaging	Het
Frmd4a	G	T	2: 4,542,122 (GRCm39)	V234L	possibly damaging	Het
Gal3st2	A	G	1: 93,800,245 (GRCm39)	D32G	probably damaging	Het
Gpr135	T	C	12: 72,117,720 (GRCm39)	T16A	probably benign	Het
Gpr160	A	T	3: 30,950,835 (GRCm39)	R302S	probably benign	Het
Hrh2	C	A	13: 54,368,820 (GRCm39)	N265K	probably benign	Het
Htatip2	C	A	7: 49,423,171 (GRCm39)	A242E	probably damaging	Het
Igfbp7	T	C	5: 77,555,482 (GRCm39)	Y127C	probably damaging	Het
Igkv16-104	A	G	6: 68,402,878 (GRCm39)	Q57R	possibly damaging	Het
Ino80c	A	G	18: 24,241,903 (GRCm39)	S161P	probably damaging	Het
Itprid1	G	A	6: 55,944,132 (GRCm39)		probably null	Het
Kcnc1	A	G	7: 46,047,259 (GRCm39)	D53G	probably benign	Het
Khdc4	T	A	3: 88,593,824 (GRCm39)	M71K	probably damaging	Het
Lce1h	G	T	3: 92,670,874 (GRCm39)	R93S	unknown	Het
Lce1k	T	C	3: 92,713,951 (GRCm39)	S78G	unknown	Het
Lhcgr	T	A	17: 89,072,580 (GRCm39)	I156F	probably damaging	Het
Lpl	T	C	8: 69,352,077 (GRCm39)	Y343H	probably damaging	Het
Lrp6	G	T	6: 134,456,706 (GRCm39)	R853S	probably damaging	Het
Lrrc7	A	G	3: 157,854,242 (GRCm39)	V1322A	probably damaging	Het
Lrrc74a	C	T	12: 86,784,472 (GRCm39)	Q67*	probably null	Het
Megf6	A	T	4: 154,338,271 (GRCm39)	D447V	probably damaging	Het
Mep1a	T	C	17: 43,793,139 (GRCm39)	D355G	possibly damaging	Het
Ncoa1	T	C	12: 4,365,781 (GRCm39)	D95G	probably benign	Het
Npepl1	A	T	2: 173,956,235 (GRCm39)	I139F	possibly damaging	Het
Nrcam	T	C	12: 44,594,020 (GRCm39)	S262P	probably benign	Het
Nrp1	A	G	8: 129,229,047 (GRCm39)	N842D	probably benign	Het
Olfml3	A	G	3: 103,639,497 (GRCm39)		probably benign	Het
Or1x6	A	G	11: 50,939,815 (GRCm39)	R294G	probably damaging	Het
Or4b1d	T	A	2: 89,969,343 (GRCm39)	N47Y	possibly damaging	Het
Or6b6	T	A	7: 106,571,068 (GRCm39)	Y161F	probably benign	Het
Or6c204	G	A	10: 129,022,514 (GRCm39)	P259S	probably damaging	Het
Or6k8-ps1	T	C	1: 173,979,162 (GRCm39)	Y27H	possibly damaging	Het
Or8b3b	A	G	9: 38,584,659 (GRCm39)	L27P	probably damaging	Het
Or9i1b	A	T	19: 13,896,605 (GRCm39)	T74S	probably benign	Het
Pde2a	A	G	7: 101,152,041 (GRCm39)	N316S	probably benign	Het
Pde4dip	T	A	3: 97,750,993 (GRCm39)	R74*	probably null	Het
Pex13	A	T	11: 23,605,472 (GRCm39)	W253R	possibly damaging	Het
Piezo1	A	T	8: 123,215,278 (GRCm39)	W1444R	probably damaging	Het
Pla2g4e	T	C	2: 119,998,414 (GRCm39)	K843R	possibly damaging	Het
Plxna2	C	T	1: 194,326,753 (GRCm39)	P229L	probably damaging	Het
Prelid3b	G	T	2: 174,308,592 (GRCm39)	T131K	probably benign	Het
Pros1	T	C	16: 62,709,370 (GRCm39)		probably null	Het
Prrc2c	G	T	1: 162,525,256 (GRCm39)	P450Q	unknown	Het
Ptbp1	G	T	10: 79,692,342 (GRCm39)	V5F	possibly damaging	Het
Ptk2	T	A	15: 73,078,074 (GRCm39)	L997F	probably damaging	Het
Rims1	G	T	1: 22,518,528 (GRCm39)	S525*	probably null	Het
Sanbr	A	G	11: 23,543,449 (GRCm39)	S530P	probably benign	Het
Sh2b3	T	A	5: 121,956,697 (GRCm39)	D318V	probably benign	Het
Slc16a13	A	T	11: 70,111,101 (GRCm39)	I88N	probably damaging	Het
Slit2	T	A	5: 48,414,345 (GRCm39)		probably null	Het
Snx10	A	G	6: 51,556,918 (GRCm39)	N67S	probably damaging	Het
Stil	A	G	4: 114,898,505 (GRCm39)	Y1045C	probably damaging	Het
Stra6	A	G	9: 58,042,359 (GRCm39)		probably null	Het
Sympk	A	G	7: 18,788,335 (GRCm39)	S1254G	probably benign	Het
Syt15	G	T	14: 33,950,011 (GRCm39)	G377V	probably damaging	Het
Taar4	A	T	10: 23,836,731 (GRCm39)	I114F	probably damaging	Het
Tcaf3	G	A	6: 42,570,300 (GRCm39)		probably null	Het
Tgm7	A	T	2: 120,924,502 (GRCm39)	N558K	probably benign	Het
Tln2	T	G	9: 67,304,935 (GRCm39)	M1L	probably benign	Het
Trim50	C	T	5: 135,395,994 (GRCm39)	T314I	probably damaging	Het
Trp53rka	A	T	2: 165,333,312 (GRCm39)	Y192*	probably null	Het
Ube3b	T	C	5: 114,531,139 (GRCm39)	V211A	probably benign	Het
Ush2a	A	G	1: 188,132,138 (GRCm39)	S787G	probably benign	Het
Vmn1r189	T	C	13: 22,286,289 (GRCm39)	M183V	probably damaging	Het
Vps13d	G	T	4: 144,904,782 (GRCm39)	Q115K	probably benign	Het
Zfp358	A	G	8: 3,545,493 (GRCm39)	D25G	probably damaging	Het
Zfp521	T	G	18: 13,977,647 (GRCm39)	K922T	probably damaging	Het
Zfp521	T	A	18: 13,977,648 (GRCm39)	K922*	probably null	Het
Zfp68	T	A	5: 138,614,743 (GRCm39)	K4*	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
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
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'- GAAGGCTTTTACTCCTATCCGTTTG -3'
(R):5'- ATGCAAAGCCATCTCGGGAG -3'

Sequencing Primer
(F):5'- TGTTCTGAGACGCCTGCC -3'
(R):5'- GGAGTTTTTCCAGAAACAGCCTC -3'

Posted On

2015-10-21