Incidental Mutation 'IGL02016:Chrna7'
| ID |
183759 |
| 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 # |
IGL02016
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
62748440-62862274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62753583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 312
(V312E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032738
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032738]
|
| AlphaFold |
P49582 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032738
AA Change: V312E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032738
Gene: ENSMUSG00000030525
AA Change: V312E
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810024B03Rik |
C |
A |
2: 127,028,875 (GRCm39) |
G108V |
probably damaging |
Het |
| A2ml1 |
T |
C |
6: 128,535,298 (GRCm39) |
E804G |
probably damaging |
Het |
| Abcg4 |
G |
A |
9: 44,198,647 (GRCm39) |
T35M |
probably damaging |
Het |
| Acad9 |
A |
T |
3: 36,142,635 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,545,572 (GRCm39) |
D5571G |
probably damaging |
Het |
| App |
T |
A |
16: 84,853,409 (GRCm39) |
D223V |
unknown |
Het |
| Arhgap30 |
A |
G |
1: 171,235,315 (GRCm39) |
E563G |
probably damaging |
Het |
| Atp6v1e2 |
A |
T |
17: 87,251,822 (GRCm39) |
V192D |
probably damaging |
Het |
| Atr |
G |
A |
9: 95,809,228 (GRCm39) |
V1969I |
probably benign |
Het |
| Bean1 |
T |
C |
8: 104,937,550 (GRCm39) |
L43S |
possibly damaging |
Het |
| Cand1 |
A |
G |
10: 119,048,473 (GRCm39) |
V436A |
probably damaging |
Het |
| Card6 |
T |
C |
15: 5,137,738 (GRCm39) |
I39V |
probably damaging |
Het |
| Ccdc73 |
A |
G |
2: 104,805,961 (GRCm39) |
T300A |
probably benign |
Het |
| Ccdc88c |
T |
C |
12: 100,907,466 (GRCm39) |
T962A |
possibly damaging |
Het |
| Chd6 |
G |
T |
2: 160,825,598 (GRCm39) |
L1169I |
probably damaging |
Het |
| Dna2 |
A |
G |
10: 62,796,191 (GRCm39) |
N540S |
probably benign |
Het |
| Elavl2 |
T |
C |
4: 91,149,172 (GRCm39) |
E209G |
probably damaging |
Het |
| Elmo2 |
A |
G |
2: 165,136,932 (GRCm39) |
|
probably null |
Het |
| Fto |
A |
T |
8: 92,393,034 (GRCm39) |
R494* |
probably null |
Het |
| Garre1 |
A |
G |
7: 33,938,526 (GRCm39) |
M791T |
possibly damaging |
Het |
| Gm9966 |
A |
T |
7: 95,608,014 (GRCm39) |
T112S |
unknown |
Het |
| Gtf3c1 |
A |
C |
7: 125,267,211 (GRCm39) |
I940S |
probably damaging |
Het |
| Hecw2 |
C |
A |
1: 53,870,702 (GRCm39) |
Q1426H |
possibly damaging |
Het |
| Iars2 |
A |
C |
1: 185,035,503 (GRCm39) |
L579R |
probably damaging |
Het |
| Ifih1 |
A |
C |
2: 62,437,328 (GRCm39) |
M537R |
probably benign |
Het |
| Kcnmb4 |
A |
G |
10: 116,282,367 (GRCm39) |
|
probably benign |
Het |
| Large2 |
A |
G |
2: 92,199,888 (GRCm39) |
V175A |
possibly damaging |
Het |
| Mad2l1bp |
A |
G |
17: 46,464,428 (GRCm39) |
|
probably benign |
Het |
| Muc20 |
A |
T |
16: 32,617,722 (GRCm39) |
F14Y |
possibly damaging |
Het |
| Myom2 |
A |
G |
8: 15,175,195 (GRCm39) |
E1258G |
probably benign |
Het |
| Or8k28 |
A |
T |
2: 86,285,841 (GRCm39) |
M258K |
probably damaging |
Het |
| Parp1 |
A |
T |
1: 180,426,516 (GRCm39) |
|
probably null |
Het |
| Pramel22 |
T |
A |
4: 143,381,889 (GRCm39) |
E269V |
possibly damaging |
Het |
| Prkra |
A |
T |
2: 76,473,653 (GRCm39) |
|
probably null |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Scd1 |
C |
T |
19: 44,388,746 (GRCm39) |
G235S |
probably benign |
Het |
| Sdk1 |
A |
G |
5: 142,020,184 (GRCm39) |
H654R |
possibly damaging |
Het |
| Sesn3 |
A |
G |
9: 14,231,633 (GRCm39) |
Y188C |
probably damaging |
Het |
| Slc26a4 |
T |
C |
12: 31,585,666 (GRCm39) |
M461V |
probably damaging |
Het |
| Slc28a2 |
A |
G |
2: 122,285,822 (GRCm39) |
I439V |
probably benign |
Het |
| Smc5 |
T |
A |
19: 23,251,076 (GRCm39) |
N36I |
probably benign |
Het |
| Smurf2 |
A |
G |
11: 106,713,504 (GRCm39) |
F745S |
probably damaging |
Het |
| Spata22 |
A |
G |
11: 73,226,857 (GRCm39) |
N65S |
possibly damaging |
Het |
| Tanc1 |
A |
G |
2: 59,673,934 (GRCm39) |
T1680A |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,891,249 (GRCm39) |
V531M |
probably damaging |
Het |
| Trpm3 |
T |
G |
19: 22,879,433 (GRCm39) |
Y727* |
probably null |
Het |
| Tssk1 |
A |
T |
16: 17,712,758 (GRCm39) |
Y181F |
probably damaging |
Het |
| Ucp3 |
T |
A |
7: 100,129,766 (GRCm39) |
V136E |
probably damaging |
Het |
| Uqcrfs1 |
A |
C |
13: 30,729,097 (GRCm39) |
V45G |
probably benign |
Het |
| Uvrag |
A |
G |
7: 98,748,649 (GRCm39) |
I101T |
probably benign |
Het |
| Vmn1r206 |
A |
T |
13: 22,804,334 (GRCm39) |
L291Q |
probably damaging |
Het |
| Wnk2 |
T |
A |
13: 49,210,381 (GRCm39) |
I1813F |
probably damaging |
Het |
| Zbtb3 |
T |
A |
19: 8,780,579 (GRCm39) |
V64E |
probably damaging |
Het |
| Zeb2 |
A |
G |
2: 44,878,886 (GRCm39) |
I1115T |
possibly damaging |
Het |
| Zfp280b |
C |
T |
10: 75,874,945 (GRCm39) |
L275F |
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 |
|
IGL02388:Chrna7
|
APN |
7 |
62,757,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02400:Chrna7
|
APN |
7 |
62,749,070 (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 |
2014-05-07 |
Incidental Mutation