Mutagenetix > Incidental Mutation

Incidental Mutation 'R1513:Chrna2'

168560

Institutional Source

Beutler Lab

Gene Symbol

Chrna2

Ensembl Gene

ENSMUSG00000022041

Gene Name

cholinergic receptor nicotinic alpha 2 subunit

Synonyms

Acra-2, Acra2

MMRRC Submission

039560-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1513 (G1)

Quality Score

170

Status

Not validated

Chromosome

Chromosomal Location

66372488-66390397 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 66380878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 49 (R49H)

Ref Sequence

ENSEMBL: ENSMUSP00000145896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022620] [ENSMUST00000206455]

AlphaFold

Q91X60

Predicted Effect

probably benign
Transcript: ENSMUST00000022620
AA Change: R49H

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000022620
Gene: ENSMUSG00000022041
AA Change: R49H

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	36	242	2.2e-81	PFAM
Pfam:Neur_chan_memb	249	503	5e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000206455
AA Change: R49H

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout the peripheral and central nervous system where they are involved in fast synaptic transmission. This gene encodes an alpha subunit that is widely expressed in the brain. The proposed structure for nAChR subunits is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. Mutations in this gene cause autosomal dominant nocturnal frontal lobe epilepsy type 4. Single nucleotide polymorphisms (SNPs) in this gene have been associated with nicotine dependence. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a targeted null mutation do not exhibit any significant abnormalities compared to controls. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500011B03Rik	A	T	5: 114,947,334 (GRCm39)	C64*	probably null	Het
1700003H04Rik	A	C	3: 124,368,985 (GRCm39)	Y109D	possibly damaging	Het
Abca15	A	T	7: 119,939,322 (GRCm39)	I239F	probably damaging	Het
Adgrv1	A	G	13: 81,741,167 (GRCm39)	V99A	probably damaging	Het
Adgrv1	A	T	13: 81,705,076 (GRCm39)	I1578K	probably damaging	Het
Ap4e1	G	T	2: 126,903,475 (GRCm39)	K792N	probably null	Het
Ap5b1	G	A	19: 5,619,892 (GRCm39)	W437*	probably null	Het
Arhgef17	A	G	7: 100,580,069 (GRCm39)	L293P	probably benign	Het
Arhgef33	A	C	17: 80,678,818 (GRCm39)	M505L	probably benign	Het
Arih1	T	A	9: 59,310,663 (GRCm39)	R320S	probably damaging	Het
Atp1b3	A	T	9: 96,246,206 (GRCm39)	M1K	probably null	Het
Bbs2	T	C	8: 94,816,472 (GRCm39)	D130G	possibly damaging	Het
Bscl2	G	A	19: 8,818,509 (GRCm39)	R38H	probably damaging	Het
Cad	A	G	5: 31,226,106 (GRCm39)	Y1102C	probably damaging	Het
Cc2d1b	G	A	4: 108,490,423 (GRCm39)	R825Q	probably damaging	Het
Ccdc39	A	G	3: 33,893,294 (GRCm39)	V97A	possibly damaging	Het
Ccr1	T	C	9: 123,764,510 (GRCm39)	T7A	probably benign	Het
Cd33	A	G	7: 43,181,618 (GRCm39)	S181P	probably damaging	Het
Cdc20	A	C	4: 118,290,304 (GRCm39)	S452R	probably damaging	Het
Cdk8	A	T	5: 146,233,188 (GRCm39)	I229F	possibly damaging	Het
Ces3a	A	T	8: 105,776,909 (GRCm39)	N131Y	probably damaging	Het
Cgnl1	A	G	9: 71,631,872 (GRCm39)	I493T	probably benign	Het
Chia1	G	A	3: 106,039,220 (GRCm39)	V437M	probably benign	Het
Clec12b	A	G	6: 129,353,265 (GRCm39)	C241R	probably damaging	Het
Col11a1	A	G	3: 113,890,803 (GRCm39)	D380G	unknown	Het
Crebbp	A	G	16: 3,933,749 (GRCm39)	S948P	probably damaging	Het
Dchs1	G	A	7: 105,421,278 (GRCm39)	R381*	probably null	Het
Defb19	A	T	2: 152,418,085 (GRCm39)	*84R	probably null	Het
Dnah8	T	C	17: 30,892,862 (GRCm39)	F816L	probably benign	Het
Dync2h1	T	A	9: 7,103,663 (GRCm39)	I371F	possibly damaging	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Fggy	T	C	4: 95,790,295 (GRCm39)		probably benign	Het
Galnt12	G	A	4: 47,117,956 (GRCm39)	C125Y	probably damaging	Het
Gm4952	A	T	19: 12,602,039 (GRCm39)	D149V	probably damaging	Het
Gm6309	A	T	5: 146,107,393 (GRCm39)	H37Q	possibly damaging	Het
Gmnn	A	G	13: 24,940,615 (GRCm39)	L78P	possibly damaging	Het
Golga4	C	A	9: 118,384,800 (GRCm39)	Q613K	probably benign	Het
Iqgap2	A	T	13: 95,766,518 (GRCm39)	I1495K	probably damaging	Het
Junb	T	C	8: 85,704,758 (GRCm39)	T101A	probably damaging	Het
Kif21b	T	C	1: 136,083,849 (GRCm39)	Y699H	probably damaging	Het
Klf17	T	C	4: 117,618,132 (GRCm39)	E75G	probably damaging	Het
Klra17	T	C	6: 129,849,277 (GRCm39)	E99G	possibly damaging	Het
Knop1	CTCTTCTTCTTCTTCTTCTTCTTC	CTCTTCTTCTTCTTCTTCTTC	7: 118,451,672 (GRCm39)		probably benign	Het
Krt87	C	T	15: 101,387,538 (GRCm39)	V167M	probably benign	Het
Lce1m	A	G	3: 92,925,932 (GRCm39)		probably benign	Het
Lpin3	A	T	2: 160,746,468 (GRCm39)	Y709F	probably damaging	Het
Ltbp2	T	A	12: 84,838,718 (GRCm39)	D1080V	probably damaging	Het
Mycbp2	G	A	14: 103,441,825 (GRCm39)	T1980I	probably damaging	Het
Myo1g	T	A	11: 6,465,140 (GRCm39)	K435M	probably damaging	Het
Mypn	T	A	10: 63,005,147 (GRCm39)	N320I	probably damaging	Het
Naip5	A	T	13: 100,358,714 (GRCm39)	W841R	probably benign	Het
Ncapd2	A	T	6: 125,147,955 (GRCm39)	M1124K	probably damaging	Het
Ncf4	A	G	15: 78,146,560 (GRCm39)	D330G	probably benign	Het
Ndst3	C	T	3: 123,395,104 (GRCm39)	V509M	possibly damaging	Het
Neb	A	T	2: 52,117,256 (GRCm39)	D4105E	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nsrp1	A	T	11: 76,937,445 (GRCm39)	F250L	probably benign	Het
Or11g7	A	G	14: 50,691,138 (GRCm39)	I210V	probably benign	Het
Or4l15	T	C	14: 50,198,558 (GRCm39)		probably null	Het
Or52d1	C	T	7: 103,755,671 (GRCm39)	L62F	probably benign	Het
Or52k2	G	T	7: 102,254,509 (GRCm39)	G316V	probably benign	Het
Or5m12	A	T	2: 85,735,015 (GRCm39)	Y128N	probably damaging	Het
Or8k3b	C	T	2: 86,521,141 (GRCm39)	M59I	possibly damaging	Het
Oxr1	A	G	15: 41,660,870 (GRCm39)	D67G	probably damaging	Het
P2ry12	A	T	3: 59,125,498 (GRCm39)	I59N	probably damaging	Het
Pcdhb12	G	T	18: 37,570,111 (GRCm39)	G419V	probably damaging	Het
Pdzd2	G	T	15: 12,373,915 (GRCm39)	S2073R	possibly damaging	Het
Pex5l	C	A	3: 33,069,162 (GRCm39)	E112*	probably null	Het
Plaur	A	G	7: 24,172,016 (GRCm39)	D163G	probably benign	Het
Plk2	A	G	13: 110,536,622 (GRCm39)	Y638C	probably benign	Het
Ppp1r15b	A	G	1: 133,061,088 (GRCm39)	N535S	probably benign	Het
Ppp2r1b	T	C	9: 50,781,445 (GRCm39)	L21P	probably damaging	Het
Prkar2a	G	A	9: 108,605,469 (GRCm39)	V176I	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rag1	A	G	2: 101,473,336 (GRCm39)	M602T	possibly damaging	Het
Rb1	A	G	14: 73,559,524 (GRCm39)	V60A	probably benign	Het
Rgs20	T	A	1: 4,982,560 (GRCm39)	I303F	probably damaging	Het
Rnf43	T	A	11: 87,620,257 (GRCm39)	I240N	probably damaging	Het
Romo1	G	A	2: 155,986,433 (GRCm39)	V19M	probably benign	Het
Ryr1	A	G	7: 28,770,046 (GRCm39)	S2676P	probably damaging	Het
Ryr3	G	A	2: 112,539,542 (GRCm39)	Q3233*	probably null	Het
Skic2	G	T	17: 35,066,420 (GRCm39)	P188T	probably damaging	Het
Slc26a6	A	G	9: 108,733,035 (GRCm39)	R5G	probably benign	Het
Slc33a1	A	G	3: 63,871,376 (GRCm39)	L79P	probably damaging	Het
Snx31	G	A	15: 36,545,745 (GRCm39)	R91C	probably damaging	Het
Tecpr2	T	C	12: 110,921,234 (GRCm39)	I1269T	possibly damaging	Het
Tjap1	G	T	17: 46,572,368 (GRCm39)	D89E	probably benign	Het
Tmem53	A	T	4: 117,123,090 (GRCm39)	Q39L	probably damaging	Het
Tmod1	G	T	4: 46,083,549 (GRCm39)	V95F	possibly damaging	Het
Trim30c	A	C	7: 104,031,896 (GRCm39)	H306Q	probably benign	Het
Trpm3	A	T	19: 22,964,236 (GRCm39)	M1244L	possibly damaging	Het
Tspan32	A	G	7: 142,558,886 (GRCm39)	I14V	probably null	Het
Ube4b	A	G	4: 149,436,035 (GRCm39)	V695A	probably benign	Het
Ubxn11	G	A	4: 133,851,452 (GRCm39)		probably null	Het
Ugt3a1	A	G	15: 9,361,610 (GRCm39)	I129V	probably benign	Het
Vmn1r45	A	G	6: 89,910,058 (GRCm39)	V304A	probably damaging	Het
Vmn2r124	A	T	17: 18,283,535 (GRCm39)	S410C	probably damaging	Het
Vmn2r15	T	A	5: 109,441,195 (GRCm39)	D221V	probably damaging	Het
Vmn2r79	G	A	7: 86,686,652 (GRCm39)	V678I	probably benign	Het
Vps13b	A	T	15: 35,438,876 (GRCm39)	R319*	probably null	Het
Wdr95	G	A	5: 149,522,759 (GRCm39)	R639Q	probably benign	Het
Xirp2	A	G	2: 67,341,874 (GRCm39)	I1372V	probably benign	Het
Xpo5	T	A	17: 46,537,906 (GRCm39)	M611K	probably benign	Het
Zfat	A	G	15: 68,084,529 (GRCm39)	C121R	probably damaging	Het
Zfp382	A	T	7: 29,832,721 (GRCm39)	Y124F	probably benign	Het
Zfp512b	A	G	2: 181,230,982 (GRCm39)	F371S	probably benign	Het
Zfy2	A	G	Y: 2,116,185 (GRCm39)	V285A	probably benign	Het

Other mutations in Chrna2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02738:Chrna2	APN	14	66,386,889 (GRCm39)	missense	probably benign	0.01
IGL03172:Chrna2	APN	14	66,379,688 (GRCm39)	missense	probably benign
IGL03268:Chrna2	APN	14	66,388,395 (GRCm39)	splice site	probably benign
IGL03344:Chrna2	APN	14	66,388,415 (GRCm39)	missense	probably damaging	0.99
intrepid	UTSW	14	66,383,902 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Chrna2	UTSW	14	66,387,186 (GRCm39)	missense	probably benign	0.01
R0511:Chrna2	UTSW	14	66,386,553 (GRCm39)	missense	probably damaging	1.00
R0631:Chrna2	UTSW	14	66,386,757 (GRCm39)	missense	probably benign	0.45
R1205:Chrna2	UTSW	14	66,380,812 (GRCm39)	missense	probably benign	0.00
R1485:Chrna2	UTSW	14	66,380,812 (GRCm39)	missense	probably benign	0.00
R1487:Chrna2	UTSW	14	66,380,812 (GRCm39)	missense	probably benign	0.00
R2023:Chrna2	UTSW	14	66,379,677 (GRCm39)	missense	probably benign	0.25
R2094:Chrna2	UTSW	14	66,386,912 (GRCm39)	missense	possibly damaging	0.65
R2964:Chrna2	UTSW	14	66,386,817 (GRCm39)	missense	possibly damaging	0.82
R2966:Chrna2	UTSW	14	66,386,817 (GRCm39)	missense	possibly damaging	0.82
R3118:Chrna2	UTSW	14	66,388,442 (GRCm39)	missense	probably damaging	0.98
R3931:Chrna2	UTSW	14	66,387,216 (GRCm39)	missense	probably benign	0.26
R3979:Chrna2	UTSW	14	66,386,402 (GRCm39)	missense	probably damaging	1.00
R3983:Chrna2	UTSW	14	66,386,906 (GRCm39)	missense	probably benign	0.00
R4080:Chrna2	UTSW	14	66,380,873 (GRCm39)	nonsense	probably null
R4080:Chrna2	UTSW	14	66,380,866 (GRCm39)	missense	probably benign	0.12
R4508:Chrna2	UTSW	14	66,383,902 (GRCm39)	missense	probably damaging	1.00
R4661:Chrna2	UTSW	14	66,386,292 (GRCm39)	missense	probably damaging	1.00
R4726:Chrna2	UTSW	14	66,386,345 (GRCm39)	missense	possibly damaging	0.85
R5349:Chrna2	UTSW	14	66,380,956 (GRCm39)	missense	probably damaging	0.99
R5787:Chrna2	UTSW	14	66,386,457 (GRCm39)	missense	probably benign	0.16
R6967:Chrna2	UTSW	14	66,388,398 (GRCm39)	critical splice acceptor site	probably null
R7218:Chrna2	UTSW	14	66,381,320 (GRCm39)	splice site	probably null
R7274:Chrna2	UTSW	14	66,386,675 (GRCm39)	missense	probably benign	0.03
R7565:Chrna2	UTSW	14	66,388,484 (GRCm39)	missense	probably benign
R7965:Chrna2	UTSW	14	66,388,525 (GRCm39)	makesense	probably null
R8337:Chrna2	UTSW	14	66,387,017 (GRCm39)	nonsense	probably null
R8955:Chrna2	UTSW	14	66,379,681 (GRCm39)	missense	probably benign	0.43
R9017:Chrna2	UTSW	14	66,386,282 (GRCm39)	missense	probably benign	0.40
Z1176:Chrna2	UTSW	14	66,386,753 (GRCm39)	missense	probably damaging	1.00
Z1177:Chrna2	UTSW	14	66,388,476 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGCGTTAAGCACCAATCTGC -3'
(R):5'- TGATTCCTCAGGGTCACCCAATCAC -3'

Sequencing Primer
(F):5'- GTATGTAACCCCTGTACTGAGGC -3'
(R):5'- GTTTTAGACAACCTATGCTCTTGG -3'

Posted On

2014-04-13