Incidental Mutation 'IGL02400:Chrna7'
ID |
291856 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Chrna7
|
Ensembl Gene |
ENSMUSG00000030525 |
Gene Name |
cholinergic receptor, nicotinic, alpha polypeptide 7 |
Synonyms |
alpha7 nicotinic receptor, alpha7, alpha7-nAChR, Acra7 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02400
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
62748440-62862274 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 62749070 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 471
(C471R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032738
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032738]
|
AlphaFold |
P49582 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032738
AA Change: C471R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032738 Gene: ENSMUSG00000030525 AA Change: C471R
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610028H24Rik |
A |
G |
10: 76,290,644 (GRCm39) |
I128V |
possibly damaging |
Het |
Arfgef3 |
G |
T |
10: 18,522,005 (GRCm39) |
Q674K |
probably damaging |
Het |
Atp6v0a2 |
T |
A |
5: 124,798,849 (GRCm39) |
N851K |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Egflam |
T |
A |
15: 7,276,534 (GRCm39) |
K544M |
probably benign |
Het |
Erbb3 |
A |
C |
10: 128,415,393 (GRCm39) |
N385K |
probably benign |
Het |
Fancm |
A |
G |
12: 65,160,589 (GRCm39) |
R1388G |
probably damaging |
Het |
Gm10720 |
C |
A |
9: 3,016,900 (GRCm39) |
|
probably null |
Het |
Gm20489 |
A |
T |
X: 100,306,944 (GRCm39) |
N328K |
possibly damaging |
Het |
Gm5828 |
G |
T |
1: 16,840,042 (GRCm39) |
|
noncoding transcript |
Het |
Gnaq |
T |
C |
19: 16,293,492 (GRCm39) |
Y145H |
probably damaging |
Het |
Itgbl1 |
A |
G |
14: 124,083,938 (GRCm39) |
D148G |
probably damaging |
Het |
Myc |
T |
G |
15: 61,861,760 (GRCm39) |
|
probably benign |
Het |
Or10d5 |
A |
G |
9: 39,861,635 (GRCm39) |
V144A |
probably benign |
Het |
Or5m3b |
A |
T |
2: 85,872,420 (GRCm39) |
I254F |
probably benign |
Het |
Or6c211 |
A |
G |
10: 129,505,752 (GRCm39) |
V212A |
probably damaging |
Het |
Padi3 |
T |
G |
4: 140,516,179 (GRCm39) |
K567T |
probably benign |
Het |
Pi4ka |
T |
C |
16: 17,111,748 (GRCm39) |
T1576A |
probably damaging |
Het |
Pikfyve |
A |
G |
1: 65,291,728 (GRCm39) |
R1316G |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,620,130 (GRCm39) |
|
probably benign |
Het |
Sash1 |
G |
A |
10: 8,609,411 (GRCm39) |
R713* |
probably null |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Tnfsf4 |
T |
A |
1: 161,223,276 (GRCm39) |
C42S |
possibly damaging |
Het |
Tpp1 |
A |
G |
7: 105,396,238 (GRCm39) |
I487T |
possibly damaging |
Het |
Trim43a |
T |
A |
9: 88,464,165 (GRCm39) |
N25K |
probably benign |
Het |
Tuft1 |
T |
C |
3: 94,542,809 (GRCm39) |
|
probably benign |
Het |
Usp46 |
T |
C |
5: 74,197,713 (GRCm39) |
H26R |
probably benign |
Het |
Zfp560 |
A |
T |
9: 20,261,896 (GRCm39) |
I85N |
possibly damaging |
Het |
|
Other mutations in Chrna7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01776:Chrna7
|
APN |
7 |
62,749,267 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01999:Chrna7
|
APN |
7 |
62,753,539 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02016:Chrna7
|
APN |
7 |
62,753,583 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02388:Chrna7
|
APN |
7 |
62,757,439 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02458:Chrna7
|
APN |
7 |
62,755,842 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03039:Chrna7
|
APN |
7 |
62,798,340 (GRCm39) |
missense |
probably damaging |
1.00 |
inflation
|
UTSW |
7 |
62,798,349 (GRCm39) |
missense |
probably damaging |
1.00 |
thaler
|
UTSW |
7 |
62,755,775 (GRCm39) |
missense |
probably damaging |
1.00 |
R0034:Chrna7
|
UTSW |
7 |
62,798,354 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0631:Chrna7
|
UTSW |
7 |
62,749,391 (GRCm39) |
missense |
probably benign |
0.00 |
R1666:Chrna7
|
UTSW |
7 |
62,861,890 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1703:Chrna7
|
UTSW |
7 |
62,749,255 (GRCm39) |
missense |
probably damaging |
0.99 |
R1763:Chrna7
|
UTSW |
7 |
62,749,000 (GRCm39) |
missense |
probably benign |
0.05 |
R1974:Chrna7
|
UTSW |
7 |
62,749,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R2294:Chrna7
|
UTSW |
7 |
62,760,172 (GRCm39) |
missense |
probably benign |
0.11 |
R2393:Chrna7
|
UTSW |
7 |
62,748,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R4598:Chrna7
|
UTSW |
7 |
62,753,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R4599:Chrna7
|
UTSW |
7 |
62,753,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R4842:Chrna7
|
UTSW |
7 |
62,862,196 (GRCm39) |
missense |
probably benign |
0.05 |
R5143:Chrna7
|
UTSW |
7 |
62,755,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R5310:Chrna7
|
UTSW |
7 |
62,755,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R5339:Chrna7
|
UTSW |
7 |
62,749,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R5516:Chrna7
|
UTSW |
7 |
62,749,046 (GRCm39) |
missense |
probably damaging |
0.98 |
R5807:Chrna7
|
UTSW |
7 |
62,798,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R6501:Chrna7
|
UTSW |
7 |
62,755,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R6918:Chrna7
|
UTSW |
7 |
62,809,299 (GRCm39) |
missense |
probably benign |
0.03 |
R7000:Chrna7
|
UTSW |
7 |
62,755,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R7189:Chrna7
|
UTSW |
7 |
62,755,775 (GRCm39) |
missense |
probably damaging |
1.00 |
R7483:Chrna7
|
UTSW |
7 |
62,754,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R7953:Chrna7
|
UTSW |
7 |
62,753,541 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7955:Chrna7
|
UTSW |
7 |
62,753,541 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7956:Chrna7
|
UTSW |
7 |
62,753,541 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8235:Chrna7
|
UTSW |
7 |
62,861,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R9125:Chrna7
|
UTSW |
7 |
62,757,357 (GRCm39) |
nonsense |
probably null |
|
R9356:Chrna7
|
UTSW |
7 |
62,757,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R9694:Chrna7
|
UTSW |
7 |
62,754,809 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Chrna7
|
UTSW |
7 |
62,861,932 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Chrna7
|
UTSW |
7 |
62,757,299 (GRCm39) |
critical splice donor site |
probably null |
|
Z1191:Chrna7
|
UTSW |
7 |
62,755,941 (GRCm39) |
missense |
probably benign |
0.22 |
|
Posted On |
2015-04-16 |