Mutagenetix > Incidental Mutation

Incidental Mutation 'R8809:Chrnb2'

672255

Institutional Source

Beutler Lab

Gene Symbol

Chrnb2

Ensembl Gene

ENSMUSG00000027950

Gene Name

cholinergic receptor nicotinic beta 2 subunit

Synonyms

C030030P04Rik, Acrb2, [b]2-nAchR, Acrb-2

MMRRC Submission

068645-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

R8809 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89660755-89671939 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89664457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 486 (T486A)

Ref Sequence

ENSEMBL: ENSMUSP00000029562 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029562] [ENSMUST00000098924] [ENSMUST00000107405] [ENSMUST00000200558]

AlphaFold

Q9ERK7

Predicted Effect

probably benign
Transcript: ENSMUST00000029562
AA Change: T486A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029562
Gene: ENSMUSG00000027950
AA Change: T486A

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	29	234	5.6e-75	PFAM
Pfam:Neur_chan_memb	241	477	1.7e-86	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098924

SMART Domains

Protein: ENSMUSP00000096525
Gene: ENSMUSG00000027951

Domain	Start	End	E-Value	Type
Zalpha	1	64	3.1e-24	SMART
low complexity region	74	89	N/A	INTRINSIC
low complexity region	99	111	N/A	INTRINSIC
DSRM	209	275	3.6e-21	SMART
DSRM	320	386	4.36e-20	SMART
DSRM	428	494	1.58e-17	SMART
low complexity region	515	526	N/A	INTRINSIC
ADEAMc	540	923	3.74e-205	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107405

SMART Domains

Protein: ENSMUSP00000103028
Gene: ENSMUSG00000027951

Domain	Start	End	E-Value	Type
Zalpha	134	203	8.97e-30	SMART
Zalpha	244	312	7.69e-29	SMART
low complexity region	322	337	N/A	INTRINSIC
low complexity region	347	359	N/A	INTRINSIC
DSRM	457	523	3.6e-21	SMART
DSRM	568	634	4.36e-20	SMART
DSRM	676	742	1.58e-17	SMART
low complexity region	763	774	N/A	INTRINSIC
ADEAMc	788	1171	3.74e-205	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200558

SMART Domains

Protein: ENSMUSP00000143441
Gene: ENSMUSG00000027950

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Neur_chan_LBD	29	234	1.5e-71	PFAM
Pfam:Neur_chan_memb	241	454	4.8e-61	PFAM
low complexity region	657	666	N/A	INTRINSIC

Meta Mutation Damage Score

0.0738

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations have impaired responses to nicotine, but show improved passive avoidance behavior. With age, mutants show more neurodegeneration and alterations of the visual system, with decreased cortical visual acuity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr6	C	T	10: 89,550,841 (GRCm39)	V318I	probably benign	Het
Adam29	A	G	8: 56,325,659 (GRCm39)	I265T	probably benign	Het
Ankdd1a	A	T	9: 65,415,422 (GRCm39)		probably benign	Het
Arcn1	T	C	9: 44,655,259 (GRCm39)	T501A	possibly damaging	Het
B3gntl1	A	T	11: 121,521,690 (GRCm39)	F166I	possibly damaging	Het
Brap	T	C	5: 121,822,524 (GRCm39)	S467P	possibly damaging	Het
Cenpb	A	G	2: 131,020,322 (GRCm39)	V492A	unknown	Het
Ces1b	C	A	8: 93,786,948 (GRCm39)	G477V	probably damaging	Het
Ces1b	C	T	8: 93,786,949 (GRCm39)	G477R	probably damaging	Het
Cfap65	T	C	1: 74,942,382 (GRCm39)	K1724R	probably benign	Het
Chrd	A	T	16: 20,553,270 (GRCm39)	Q182L	probably benign	Het
Col25a1	A	T	3: 130,354,466 (GRCm39)		probably null	Het
Col4a1	A	G	8: 11,295,916 (GRCm39)	Y101H	unknown	Het
Crybg1	T	C	10: 43,879,428 (GRCm39)	T587A	probably damaging	Het
Ctnnal1	T	A	4: 56,835,374 (GRCm39)	N301I	possibly damaging	Het
Cyp2f2	A	T	7: 26,831,995 (GRCm39)	N417Y	probably damaging	Het
Dnah6	T	A	6: 73,009,546 (GRCm39)	E3800D	possibly damaging	Het
Dync2i1	A	G	12: 116,193,234 (GRCm39)	S573P	probably damaging	Het
Ehmt2	C	A	17: 35,127,489 (GRCm39)	T906K	probably damaging	Het
Fbxo15	A	G	18: 84,978,200 (GRCm39)	H183R	possibly damaging	Het
Fgl1	T	A	8: 41,650,368 (GRCm39)	K194*	probably null	Het
Fxr1	G	A	3: 34,108,430 (GRCm39)	V314I	possibly damaging	Het
Hrnr	A	G	3: 93,239,443 (GRCm39)	Q3227R	unknown	Het
Ier5	G	A	1: 154,974,716 (GRCm39)	A154V	probably benign	Het
Igkc	T	G	6: 70,703,502 (GRCm39)	L28V		Het
Kcnh1	G	A	1: 191,903,722 (GRCm39)	G54D	probably damaging	Het
Kcnn1	C	T	8: 71,305,297 (GRCm39)		probably null	Het
Kifbp	C	T	10: 62,395,491 (GRCm39)	D384N	possibly damaging	Het
Klra2	T	A	6: 131,197,198 (GRCm39)	N234I	possibly damaging	Het
Krtap4-9	T	C	11: 99,676,454 (GRCm39)	I125T	unknown	Het
Lrig2	T	C	3: 104,368,993 (GRCm39)	T897A	probably benign	Het
Lyve1	G	T	7: 110,452,999 (GRCm39)	T199K	probably damaging	Het
Myorg	T	C	4: 41,498,812 (GRCm39)	T273A	probably benign	Het
Napa	A	G	7: 15,846,551 (GRCm39)	D113G	possibly damaging	Het
Neurog1	GGTG	GGTGTG	13: 56,399,098 (GRCm39)		probably null	Het
Nf1	T	A	11: 79,437,964 (GRCm39)	H91Q	probably damaging	Het
Or4c11c	T	C	2: 88,662,256 (GRCm39)	M265T	probably benign	Het
Or4n4	A	G	14: 50,519,236 (GRCm39)	I158T	probably benign	Het
Or52e3	A	T	7: 102,869,446 (GRCm39)	N174Y	probably benign	Het
Or5k16	T	A	16: 58,736,248 (GRCm39)	Y252F	probably damaging	Het
Or7g16	A	G	9: 18,726,919 (GRCm39)	S224P	probably damaging	Het
Pccb	A	T	9: 100,867,220 (GRCm39)	Y455*	probably null	Het
Pdk2	A	T	11: 94,923,339 (GRCm39)	I95N	probably damaging	Het
Pik3c2g	G	A	6: 139,714,436 (GRCm39)	R196H		Het
Pkd1l2	A	G	8: 117,726,660 (GRCm39)	L2282P	probably damaging	Het
Plppr2	TCGCC	TC	9: 21,855,727 (GRCm39)		probably benign	Het
Prdm1	A	T	10: 44,315,749 (GRCm39)	S796T	probably benign	Het
Rb1	A	G	14: 73,503,000 (GRCm39)	F424L	probably damaging	Het
Retreg3	A	G	11: 100,992,852 (GRCm39)	L190P	probably damaging	Het
Rffl	A	G	11: 82,700,864 (GRCm39)	Y321H	probably damaging	Het
Rlbp1	A	G	7: 79,025,704 (GRCm39)	Y246H	probably damaging	Het
Rock2	T	A	12: 17,015,655 (GRCm39)		probably benign	Het
Slc17a3	C	A	13: 24,039,575 (GRCm39)	C244*	probably null	Het
Snapc1	T	C	12: 74,021,812 (GRCm39)	S304P	probably benign	Het
Sp9	T	C	2: 73,104,019 (GRCm39)	L191P	probably damaging	Het
Spag17	A	T	3: 99,889,738 (GRCm39)	E202D	probably benign	Het
Ss18	A	G	18: 14,760,344 (GRCm39)	*419R	probably null	Het
Tacc2	A	G	7: 130,276,421 (GRCm39)	E1824G	possibly damaging	Het
Tacc3	T	A	5: 33,824,029 (GRCm39)		probably benign	Het
Tfap2a	A	T	13: 40,870,829 (GRCm39)	L353Q	probably damaging	Het
Ugt3a1	A	G	15: 9,367,345 (GRCm39)	I363V	possibly damaging	Het
Vmn1r158	A	G	7: 22,489,775 (GRCm39)	C145R	probably damaging	Het
Vmn1r23	A	T	6: 57,903,352 (GRCm39)	I142K	probably damaging	Het
Vmn2r15	A	T	5: 109,434,874 (GRCm39)	I610N	probably benign	Het
Yy1	CGGCGACCACGGCGGCGGCGGGGGCG	CGGCG	12: 108,759,506 (GRCm39)		probably benign	Het
Zbtb7c	T	C	18: 76,270,190 (GRCm39)	Y93H	probably damaging	Het
Zfp62	A	G	11: 49,107,238 (GRCm39)	N443S	probably damaging	Het

Other mutations in Chrnb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03108:Chrnb2	APN	3	89,670,681 (GRCm39)	splice site	probably benign
IGL03117:Chrnb2	APN	3	89,670,552 (GRCm39)	missense	probably damaging	1.00
IGL03391:Chrnb2	APN	3	89,668,184 (GRCm39)	missense	probably damaging	0.98
R0131:Chrnb2	UTSW	3	89,671,713 (GRCm39)	start codon destroyed	probably null	0.01
R0131:Chrnb2	UTSW	3	89,671,713 (GRCm39)	start codon destroyed	probably null	0.01
R0132:Chrnb2	UTSW	3	89,671,713 (GRCm39)	start codon destroyed	probably null	0.01
R1726:Chrnb2	UTSW	3	89,668,509 (GRCm39)	missense	probably damaging	1.00
R2095:Chrnb2	UTSW	3	89,668,744 (GRCm39)	missense	probably benign	0.01
R2124:Chrnb2	UTSW	3	89,676,648 (GRCm39)	unclassified	probably benign
R3548:Chrnb2	UTSW	3	89,668,898 (GRCm39)	missense	probably benign	0.04
R4212:Chrnb2	UTSW	3	89,668,851 (GRCm39)	missense	probably damaging	1.00
R4902:Chrnb2	UTSW	3	89,668,248 (GRCm39)	missense	probably damaging	1.00
R6307:Chrnb2	UTSW	3	89,668,831 (GRCm39)	missense	probably damaging	1.00
R6751:Chrnb2	UTSW	3	89,668,883 (GRCm39)	missense	probably damaging	1.00
R6999:Chrnb2	UTSW	3	89,668,622 (GRCm39)	missense	possibly damaging	0.71
R7318:Chrnb2	UTSW	3	89,670,674 (GRCm39)	critical splice acceptor site	probably null
R7826:Chrnb2	UTSW	3	89,670,550 (GRCm39)	missense	probably damaging	1.00
R8025:Chrnb2	UTSW	3	89,668,649 (GRCm39)	missense	probably damaging	1.00
R8094:Chrnb2	UTSW	3	89,668,698 (GRCm39)	missense	probably damaging	1.00
R8143:Chrnb2	UTSW	3	89,654,630 (GRCm39)	missense	unknown
R8739:Chrnb2	UTSW	3	89,669,746 (GRCm39)	missense	probably damaging	1.00
R8969:Chrnb2	UTSW	3	89,664,532 (GRCm39)	missense	probably damaging	0.97
R9054:Chrnb2	UTSW	3	89,664,562 (GRCm39)	missense	probably damaging	1.00
R9204:Chrnb2	UTSW	3	89,668,128 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGAACATGAGGCAGCTGGTC -3'
(R):5'- ACGTGGTAGGGACTTTCCTG -3'

Sequencing Primer
(F):5'- CTGGTCCAGCCTCCAGG -3'
(R):5'- GCCTCTTCCCACACCAGG -3'

Posted On

2021-04-30