Mutagenetix > Incidental Mutation

Incidental Mutation 'R7070:Chrnb3'

548837

Institutional Source

Beutler Lab

Gene Symbol

Chrnb3

Ensembl Gene

ENSMUSG00000031492

Gene Name

cholinergic receptor, nicotinic, beta polypeptide 3

Synonyms

Acrb3, 5730417K16Rik

MMRRC Submission

045166-MU

Accession Numbers

Essential gene?

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

Stock #

R7070 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27858739-27889758 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27883989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 242 (Y242F)

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: Y242F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000052297
Gene: ENSMUSG00000031492
AA Change: Y242F

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: Y227F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000078428
Gene: ENSMUSG00000031492
AA Change: Y227F

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: Y242F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	T	C	6: 65,930,232 (GRCm39)	Y156H	probably damaging	Het
Abca13	T	A	11: 9,240,701 (GRCm39)	F855I	probably benign	Het
Abca2	T	G	2: 25,333,007 (GRCm39)	F1569V	probably benign	Het
Adcy8	T	A	15: 64,792,404 (GRCm39)	N184I	probably damaging	Het
Akap3	T	C	6: 126,850,987 (GRCm39)	V835A	probably damaging	Het
Atg5	T	A	10: 44,162,150 (GRCm39)	L22H	probably damaging	Het
Atp13a5	A	G	16: 29,152,879 (GRCm39)	F196L	possibly damaging	Het
C1qtnf9	A	G	14: 61,017,232 (GRCm39)	H254R	probably damaging	Het
Capza3	C	T	6: 139,987,646 (GRCm39)	R82C	probably damaging	Het
Ccdc126	A	G	6: 49,316,796 (GRCm39)	D92G	probably damaging	Het
Cdh12	T	A	15: 21,583,915 (GRCm39)	M585K	probably benign	Het
Cngb3	T	C	4: 19,425,593 (GRCm39)	V467A	possibly damaging	Het
Cnot8	A	G	11: 58,008,278 (GRCm39)	D248G	probably benign	Het
Cntn1	C	T	15: 92,151,917 (GRCm39)	T452M	probably damaging	Het
Cygb	C	A	11: 116,544,851 (GRCm39)		probably benign	Het
D930020B18Rik	G	A	10: 121,477,879 (GRCm39)	V35M	probably damaging	Het
Dcaf17	C	T	2: 70,918,857 (GRCm39)	T477M	probably benign	Het
Dpp3	A	T	19: 4,968,356 (GRCm39)	F239I	probably benign	Het
Dst	T	A	1: 34,314,383 (GRCm39)	V6442E	probably damaging	Het
Enpp2	T	A	15: 54,762,685 (GRCm39)	I188F	probably damaging	Het
Galnt5	A	G	2: 57,888,621 (GRCm39)	M74V	probably benign	Het
Grin2a	T	C	16: 9,397,288 (GRCm39)	D933G	possibly damaging	Het
Gtf2i	T	A	5: 134,311,657 (GRCm39)	E223D	probably damaging	Het
H2-M5	C	A	17: 37,300,051 (GRCm39)	G41V	possibly damaging	Het
Hars2	C	T	18: 36,924,165 (GRCm39)	R501*	probably null	Het
Heatr4	A	G	12: 84,016,632 (GRCm39)	V545A	probably benign	Het
Hsd3b3	T	A	3: 98,649,787 (GRCm39)	T179S	possibly damaging	Het
Ighv5-6	A	G	12: 113,589,429 (GRCm39)	V17A	probably damaging	Het
Jak3	A	G	8: 72,137,255 (GRCm39)	D772G	probably damaging	Het
Jakmip2	A	T	18: 43,690,393 (GRCm39)		probably null	Het
Kcnj15	C	G	16: 95,096,690 (GRCm39)	T104S	probably damaging	Het
Kndc1	A	G	7: 139,501,744 (GRCm39)	E927G	probably damaging	Het
Larp1b	G	T	3: 40,931,086 (GRCm39)	G275C	probably damaging	Het
Lyst	C	A	13: 13,932,029 (GRCm39)	H3552Q	probably benign	Het
Mast2	A	T	4: 116,168,052 (GRCm39)	I960N	probably benign	Het
Mcee	G	A	7: 64,050,078 (GRCm39)	V70I	possibly damaging	Het
Muc16	G	A	9: 18,557,219 (GRCm39)	Q3025*	probably null	Het
Nrg1	T	A	8: 32,339,465 (GRCm39)	T45S	probably damaging	Het
Nutm1	T	A	2: 112,079,806 (GRCm39)	H703L	probably benign	Het
Or5m10	G	A	2: 85,718,034 (GRCm39)	V297I	probably benign	Het
Or7a38	A	T	10: 78,753,102 (GRCm39)	I143L	probably benign	Het
Pbx1	A	C	1: 168,023,337 (GRCm39)	C273G	probably damaging	Het
Peg10	ACATCAGGATCC	ACATCAGGATCCCCATCAGGATCC	6: 4,756,454 (GRCm39)		probably benign	Het
Phf1	A	G	17: 27,153,307 (GRCm39)	T42A	possibly damaging	Het
Pigm	T	A	1: 172,205,233 (GRCm39)	I323N	probably damaging	Het
Plcg2	G	A	8: 118,323,045 (GRCm39)	R700H	probably benign	Het
Ptx4	G	A	17: 25,341,971 (GRCm39)	A149T	probably benign	Het
Rab6a	A	G	7: 100,279,064 (GRCm39)	D68G	probably damaging	Het
Rcan3	C	T	4: 135,143,898 (GRCm39)	E185K	probably damaging	Het
Rnf14	A	G	18: 38,434,781 (GRCm39)	N76S	possibly damaging	Het
Rpf1	A	T	3: 146,217,939 (GRCm39)	F192I	probably damaging	Het
Rps6ka1	T	C	4: 133,588,759 (GRCm39)	T285A	probably benign	Het
Rrp8	T	C	7: 105,384,083 (GRCm39)	K94E	possibly damaging	Het
Rsbn1	A	G	3: 103,836,299 (GRCm39)	K122E	probably damaging	Het
Senp1	T	C	15: 97,980,187 (GRCm39)	T53A	possibly damaging	Het
Slc23a1	T	G	18: 35,754,834 (GRCm39)	D519A	probably damaging	Het
Slfn14	T	G	11: 83,167,531 (GRCm39)	R661S	probably benign	Het
Snta1	T	C	2: 154,222,979 (GRCm39)	E248G	probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG	CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG	16: 91,453,729 (GRCm39)		probably benign	Het
Spmap2l	G	T	5: 77,195,124 (GRCm39)		probably null	Het
Stk11ip	C	T	1: 75,504,259 (GRCm39)	H297Y	probably benign	Het
Synpr	T	A	14: 13,493,628 (GRCm38)	F76I	probably damaging	Het
Tns2	A	G	15: 102,012,968 (GRCm39)	R27G	possibly damaging	Het
Trav5-4	C	T	14: 53,941,912 (GRCm39)	S95F	possibly damaging	Het
Ttyh1	T	C	7: 4,136,363 (GRCm39)	Y330H	probably damaging	Het
Ugt1a2	T	A	1: 88,129,224 (GRCm39)		probably null	Het
Vmn2r69	T	C	7: 85,060,688 (GRCm39)	I299V	probably damaging	Het
Vmn2r90	T	A	17: 17,924,313 (GRCm39)	D37E	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
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'- TGCTCAATGAAGTTCGGATCC -3'
(R):5'- AGGTACTCCCCAATGAGAGG -3'

Sequencing Primer
(F):5'- CTCAATGAAGTTCGGATCCTGGAC -3'
(R):5'- CCAATGAGAGGGATGACTTTTG -3'

Posted On

2019-05-13