Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02458:Chrna7'

294525

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chrna7

Ensembl Gene

ENSMUSG00000030525

Gene Name

cholinergic receptor, nicotinic, alpha polypeptide 7

Synonyms

alpha7-nAChR, alpha7, Acra7, alpha7 nicotinic receptor

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02458

Quality Score

Status

Chromosome

Chromosomal Location

63098692-63212569 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 63106094 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 235 (L235F)

Ref Sequence

ENSEMBL: ENSMUSP00000032738 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032738]

AlphaFold

P49582

Predicted Effect

probably damaging
Transcript: ENSMUST00000032738
AA Change: L235F

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

SMART Domains

Protein: ENSMUSP00000032738
Gene: ENSMUSG00000030525
AA Change: L235F

Domain	Start	End	E-Value	Type
low complexity region	10	17	N/A	INTRINSIC
Pfam:Neur_chan_LBD	26	230	1e-75	PFAM
Pfam:Neur_chan_memb	237	487	3.6e-63	PFAM

Coding Region Coverage

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 thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit 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. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
PHENOTYPE: Nullizygous mice lack hippocampal fast nicotinic currents but show nicotine-induced seizures as well as altered anxiety behavior, fertility defects, airway basal cell hyperplasia. and higher TNF sythesis when endotoxemic. Newborns homozygous for a knock-in allele die with increased neuron apoptosis. [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
Adam25	A	T	8: 40,753,807	I37L	probably benign	Het
Alpk1	A	G	3: 127,681,319		probably null	Het
Ankrd33	T	C	15: 101,116,607	F8L	probably damaging	Het
Avil	A	G	10: 127,016,353	K669R	probably benign	Het
Bcor	G	T	X: 12,048,510	L1165I	probably damaging	Het
C7	A	G	15: 5,059,389		probably benign	Het
Cc2d2a	A	G	5: 43,718,554	I958V	probably benign	Het
Cenpe	A	T	3: 135,230,108	K435*	probably null	Het
Col6a3	C	A	1: 90,779,197	V2065L	unknown	Het
Copb1	A	T	7: 114,246,785	N183K	probably benign	Het
Cpn2	G	A	16: 30,260,835	A16V	probably benign	Het
Cul1	A	G	6: 47,525,608	K769E	possibly damaging	Het
Ddx58	A	G	4: 40,229,536	S83P	probably damaging	Het
Deup1	C	T	9: 15,592,360	V302M	probably benign	Het
Dnah17	T	C	11: 118,036,350	K3871E	probably damaging	Het
Dnah6	A	G	6: 73,027,448	V3844A	probably benign	Het
Dnah7a	A	T	1: 53,618,328	L763*	probably null	Het
Donson	A	T	16: 91,681,176	W461R	probably damaging	Het
Dpp10	T	C	1: 123,341,689	I664V	probably benign	Het
Dusp8	T	A	7: 142,082,747	T369S	probably benign	Het
Dync2h1	A	T	9: 7,117,422	L56Q	probably damaging	Het
Ecd	A	T	14: 20,324,477	S532T	probably benign	Het
Frg2f1	G	A	4: 119,530,957	T115I	probably damaging	Het
Gpatch2l	A	G	12: 86,288,961		probably benign	Het
Gtf3c2	T	A	5: 31,159,523		probably null	Het
Haghl	T	C	17: 25,783,496		probably benign	Het
Hoxc8	A	T	15: 102,992,749	N208I	probably damaging	Het
Igf2	T	C	7: 142,654,048	D115G	probably benign	Het
Jag2	T	A	12: 112,915,993	D385V	probably damaging	Het
Laptm4b	A	G	15: 34,258,742	H54R	probably benign	Het
Lrp2	A	G	2: 69,521,773	S640P	probably damaging	Het
Map3k8	A	C	18: 4,334,660	V328G	probably damaging	Het
Mfsd13a	A	G	19: 46,372,247	E388G	probably damaging	Het
Ms4a13	G	A	19: 11,171,928	T168I	probably benign	Het
Mtg1	C	A	7: 140,150,172	Q294K	probably benign	Het
Myh3	C	T	11: 67,096,940	A1413V	possibly damaging	Het
Neo1	A	T	9: 58,893,867		probably benign	Het
Ogfod3	T	C	11: 121,200,923	E119G	probably benign	Het
Olfr1250	A	G	2: 89,657,348	L31P	probably damaging	Het
Olfr1331	A	G	4: 118,869,300	N173S	possibly damaging	Het
Olfr331	A	T	11: 58,502,247	M109K	probably benign	Het
Olfr800	A	T	10: 129,660,606	I267F	probably benign	Het
Olfr988	G	A	2: 85,353,662	T88I	probably benign	Het
Parvb	G	T	15: 84,303,434	D248Y	probably damaging	Het
Pcdh11x	A	T	X: 120,400,618	H586L	possibly damaging	Het
Phactr2	T	C	10: 13,261,828	E120G	probably damaging	Het
Ppfibp2	A	T	7: 107,742,964	Q775L	probably damaging	Het
Rcbtb1	A	G	14: 59,229,994	Y427C	probably damaging	Het
Rftn2	A	T	1: 55,211,192	C131*	probably null	Het
Rps6ka2	A	G	17: 7,289,003	D474G	probably benign	Het
Rsbn1l	T	C	5: 20,951,736	E17G	probably damaging	Het
Ryr2	T	C	13: 11,705,699	M2688V	probably benign	Het
Slc22a18	C	A	7: 143,492,837		probably benign	Het
Smarcc1	A	G	9: 110,132,126		probably benign	Het
Soat2	T	C	15: 102,162,115	V451A	probably damaging	Het
Sptlc2	A	T	12: 87,309,893		probably benign	Het
Tada1	C	T	1: 166,392,634	L308F	probably damaging	Het
Tango2	A	T	16: 18,310,867		probably null	Het
Tbc1d15	A	T	10: 115,229,206	V158D	probably damaging	Het
Tcrg-V3	A	G	13: 19,243,253	Y102C	probably damaging	Het
Tmx2	A	T	2: 84,673,244		probably benign	Het
Tpte	T	A	8: 22,305,858	I79K	probably benign	Het
Trav6-1	A	G	14: 52,638,742	I40V	probably benign	Het
Ubash3a	T	C	17: 31,231,481	S377P	possibly damaging	Het
Vmn2r7	T	C	3: 64,693,025	D575G	probably damaging	Het
Vps41	A	G	13: 18,853,479	D704G	possibly damaging	Het
Vwa5a	T	C	9: 38,726,963	S261P	possibly damaging	Het
Zc3hav1	A	G	6: 38,340,329	V112A	probably damaging	Het

Other mutations in Chrna7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01776:Chrna7	APN	7	63099519	missense	probably benign	0.01
IGL01999:Chrna7	APN	7	63103791	missense	probably damaging	1.00
IGL02016:Chrna7	APN	7	63103835	missense	probably damaging	1.00
IGL02388:Chrna7	APN	7	63107691	missense	probably damaging	1.00
IGL02400:Chrna7	APN	7	63099322	missense	probably damaging	1.00
IGL03039:Chrna7	APN	7	63148592	missense	probably damaging	1.00
inflation	UTSW	7	63148601	missense	probably damaging	1.00
thaler	UTSW	7	63106027	missense	probably damaging	1.00
R0034:Chrna7	UTSW	7	63148606	missense	possibly damaging	0.79
R0631:Chrna7	UTSW	7	63099643	missense	probably benign	0.00
R1666:Chrna7	UTSW	7	63212142	missense	possibly damaging	0.70
R1703:Chrna7	UTSW	7	63099507	missense	probably damaging	0.99
R1763:Chrna7	UTSW	7	63099252	missense	probably benign	0.05
R1974:Chrna7	UTSW	7	63099286	missense	probably damaging	1.00
R2294:Chrna7	UTSW	7	63110424	missense	probably benign	0.11
R2393:Chrna7	UTSW	7	63099246	missense	probably damaging	1.00
R4598:Chrna7	UTSW	7	63103790	missense	probably damaging	1.00
R4599:Chrna7	UTSW	7	63103790	missense	probably damaging	1.00
R4842:Chrna7	UTSW	7	63212448	missense	probably benign	0.05
R5143:Chrna7	UTSW	7	63106147	missense	probably damaging	1.00
R5310:Chrna7	UTSW	7	63106057	missense	probably damaging	1.00
R5339:Chrna7	UTSW	7	63099307	missense	probably damaging	1.00
R5516:Chrna7	UTSW	7	63099298	missense	probably damaging	0.98
R5807:Chrna7	UTSW	7	63148601	missense	probably damaging	1.00
R6501:Chrna7	UTSW	7	63106115	missense	probably damaging	1.00
R6918:Chrna7	UTSW	7	63159551	missense	probably benign	0.03
R7000:Chrna7	UTSW	7	63106039	missense	probably damaging	1.00
R7189:Chrna7	UTSW	7	63106027	missense	probably damaging	1.00
R7483:Chrna7	UTSW	7	63104990	missense	probably damaging	1.00
R7953:Chrna7	UTSW	7	63103793	missense	possibly damaging	0.82
R7955:Chrna7	UTSW	7	63103793	missense	possibly damaging	0.82
R7956:Chrna7	UTSW	7	63103793	missense	possibly damaging	0.82
R8235:Chrna7	UTSW	7	63212224	missense	probably damaging	1.00
R9125:Chrna7	UTSW	7	63107609	nonsense	probably null
R9356:Chrna7	UTSW	7	63107689	missense	probably damaging	1.00
R9694:Chrna7	UTSW	7	63105061	missense	probably damaging	1.00
Z1176:Chrna7	UTSW	7	63212184	missense	probably damaging	1.00
Z1177:Chrna7	UTSW	7	63107551	critical splice donor site	probably null
Z1191:Chrna7	UTSW	7	63106193	missense	probably benign	0.22

Posted On

2015-04-16