Mutagenetix > Incidental Mutation

Incidental Mutation 'R1485:Chrna2'

163429

Institutional Source

Beutler Lab

Gene Symbol

Chrna2

Ensembl Gene

ENSMUSG00000022041

Gene Name

cholinergic receptor nicotinic alpha 2 subunit

Synonyms

Acra-2, Acra2

MMRRC Submission

039538-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1485 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

66372488-66390397 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66380812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 27 (A27V)

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: A27V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000022620
Gene: ENSMUSG00000022041
AA Change: A27V

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: A27V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.5%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,727,738 (GRCm39)	S301P	probably damaging	Het
AI987944	C	A	7: 41,023,954 (GRCm39)	G342*	probably null	Het
Alox5	A	T	6: 116,401,125 (GRCm39)	F212I	probably damaging	Het
Apaf1	A	T	10: 90,896,105 (GRCm39)	D322E	probably benign	Het
Aste1	T	A	9: 105,275,009 (GRCm39)	Y355*	probably null	Het
Bloc1s6	T	G	2: 122,588,063 (GRCm39)		probably null	Het
Bltp2	A	G	11: 78,176,406 (GRCm39)	Y1836C	probably damaging	Het
Castor2	T	A	5: 134,165,972 (GRCm39)	L240Q	probably damaging	Het
Ccdc77	G	A	6: 120,315,101 (GRCm39)	Q183*	probably null	Het
Ccdc92	T	C	5: 124,913,335 (GRCm39)	T65A	probably benign	Het
Coch	G	T	12: 51,645,072 (GRCm39)	V209F	probably damaging	Het
Cops3	G	A	11: 59,718,715 (GRCm39)	T193M	possibly damaging	Het
Cped1	T	C	6: 22,132,387 (GRCm39)		probably null	Het
D6Ertd527e	A	T	6: 87,088,067 (GRCm39)	S77C	unknown	Het
Defb7	A	G	8: 19,545,110 (GRCm39)		probably null	Het
Dnaaf9	A	G	2: 130,590,603 (GRCm39)		probably null	Het
Entpd6	T	A	2: 150,610,843 (GRCm39)		probably null	Het
Evc2	C	T	5: 37,527,900 (GRCm39)	A303V	probably benign	Het
Fhod1	T	C	8: 106,063,430 (GRCm39)		probably null	Het
Gcn1	T	A	5: 115,712,676 (GRCm39)	F54I	probably benign	Het
Gm7104	C	A	12: 88,252,333 (GRCm39)		noncoding transcript	Het
Grid1	A	T	14: 34,544,540 (GRCm39)	D37V	probably damaging	Het
Icam5	G	A	9: 20,947,702 (GRCm39)	A560T	probably benign	Het
Igf2r	A	C	17: 12,910,172 (GRCm39)	I2019S	probably damaging	Het
Kcnj9	A	G	1: 172,153,929 (GRCm39)	V65A	probably benign	Het
Kif3b	T	C	2: 153,164,851 (GRCm39)		probably null	Het
Kmt2a	T	G	9: 44,738,225 (GRCm39)		probably benign	Het
Marchf6	T	A	15: 31,498,839 (GRCm39)	T153S	probably damaging	Het
Mcam	T	A	9: 44,048,060 (GRCm39)	I72N	probably damaging	Het
Ncoa4-ps	A	G	12: 119,224,785 (GRCm39)		noncoding transcript	Het
Nkain3	T	C	4: 20,484,932 (GRCm39)	I48M	probably damaging	Het
Nop58	T	A	1: 59,737,504 (GRCm39)	I107N	probably damaging	Het
Notch2	A	G	3: 98,007,573 (GRCm39)	H441R	probably benign	Het
Nr1d1	G	A	11: 98,661,187 (GRCm39)	R360C	probably benign	Het
Or56a5	A	G	7: 104,792,888 (GRCm39)	I210T	probably benign	Het
Pclo	T	C	5: 14,763,793 (GRCm39)	S4089P	unknown	Het
Pi4kb	A	G	3: 94,901,698 (GRCm39)	E455G	probably damaging	Het
Piezo1	T	C	8: 123,208,788 (GRCm39)	Y2525C	probably damaging	Het
Pik3c2a	A	G	7: 116,016,908 (GRCm39)	V283A	possibly damaging	Het
Pramel12	G	A	4: 143,144,188 (GRCm39)	R178Q	probably benign	Het
Rabgap1l	A	T	1: 160,561,250 (GRCm39)	V161E	probably benign	Het
Rasa2	A	G	9: 96,426,401 (GRCm39)	I815T	probably benign	Het
Rev1	A	T	1: 38,127,653 (GRCm39)	D202E	probably benign	Het
Septin14	C	T	5: 129,770,118 (GRCm39)	A193T	probably damaging	Het
Sh3tc1	T	C	5: 35,876,370 (GRCm39)	S112G	probably benign	Het
Siah3	T	A	14: 75,762,994 (GRCm39)	Y82N	probably benign	Het
Slc2a7	T	C	4: 150,250,853 (GRCm39)	S425P	probably damaging	Het
Slc9a2	C	T	1: 40,765,548 (GRCm39)	L313F	probably damaging	Het
Smdt1	T	C	15: 82,230,433 (GRCm39)	V50A	probably benign	Het
Spata31e2	T	G	1: 26,724,961 (GRCm39)	K73T	possibly damaging	Het
Supt3	G	A	17: 45,347,607 (GRCm39)	A197T	probably benign	Het
Tex10	A	G	4: 48,436,492 (GRCm39)	I742T	possibly damaging	Het
Tex44	T	A	1: 86,355,640 (GRCm39)	H516Q	possibly damaging	Het
Tfdp1	T	G	8: 13,420,917 (GRCm39)	D171E	probably damaging	Het
Trim31	A	C	17: 37,209,568 (GRCm39)	D108A	probably damaging	Het
Ubr1	T	C	2: 120,791,579 (GRCm39)	N135S	probably benign	Het
Uso1	G	A	5: 92,328,422 (GRCm39)	V340I	possibly damaging	Het
Utp6	A	C	11: 79,839,749 (GRCm39)	V313G	probably damaging	Het
Vmn2r107	T	C	17: 20,595,109 (GRCm39)	V554A	possibly damaging	Het
Xdh	C	A	17: 74,221,014 (GRCm39)	E572*	probably null	Het
Zbtb7c	T	C	18: 76,270,061 (GRCm39)	S50P	probably damaging	Het
Zfp672	A	G	11: 58,220,395 (GRCm39)		probably benign	Het
Zzef1	A	G	11: 72,791,635 (GRCm39)		probably null	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
R1487:Chrna2	UTSW	14	66,380,812 (GRCm39)	missense	probably benign	0.00
R1513:Chrna2	UTSW	14	66,380,878 (GRCm39)	missense	probably benign	0.13
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'- CTGCGTTAAGCACCAATCTGCG -3'
(R):5'- TTCCTCAGGGTCACCCAATCACAG -3'

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

Posted On

2014-03-28