Incidental Mutation 'IGL02388:Chrna7'
| ID |
291622 |
| 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 # |
IGL02388
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
62748440-62862274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62757439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 153
(D153E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032738
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032738]
|
| AlphaFold |
P49582 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032738
AA Change: D153E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000032738
Gene: ENSMUSG00000030525
AA Change: D153E
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930597O21Rik |
A |
T |
6: 66,873,097 (GRCm39) |
|
probably benign |
Het |
| Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
| Asphd1 |
A |
T |
7: 126,545,884 (GRCm39) |
|
probably benign |
Het |
| Ccdc77 |
G |
A |
6: 120,308,858 (GRCm39) |
A301V |
probably benign |
Het |
| Cep350 |
G |
T |
1: 155,829,499 (GRCm39) |
T135K |
probably benign |
Het |
| Clec4b2 |
G |
T |
6: 123,179,187 (GRCm39) |
|
probably null |
Het |
| Cyp2c67 |
T |
C |
19: 39,631,799 (GRCm39) |
N133D |
probably benign |
Het |
| Dglucy |
T |
C |
12: 100,823,257 (GRCm39) |
I484T |
probably damaging |
Het |
| Dtna |
G |
T |
18: 23,730,571 (GRCm39) |
M319I |
probably benign |
Het |
| E2f5 |
T |
A |
3: 14,653,340 (GRCm39) |
M152K |
probably benign |
Het |
| Emsy |
A |
T |
7: 98,290,873 (GRCm39) |
M58K |
probably damaging |
Het |
| Epha1 |
A |
G |
6: 42,341,950 (GRCm39) |
Y367H |
probably damaging |
Het |
| Etv1 |
A |
G |
12: 38,831,798 (GRCm39) |
S32G |
possibly damaging |
Het |
| Fam114a1 |
A |
T |
5: 65,166,323 (GRCm39) |
|
probably benign |
Het |
| Fbxo30 |
T |
A |
10: 11,166,122 (GRCm39) |
N281K |
probably benign |
Het |
| Galnt12 |
G |
T |
4: 47,117,941 (GRCm39) |
R412L |
probably damaging |
Het |
| Gm5786 |
T |
A |
12: 59,128,382 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9845 |
T |
C |
3: 39,412,616 (GRCm39) |
|
noncoding transcript |
Het |
| Hecw2 |
A |
G |
1: 53,964,858 (GRCm39) |
V656A |
probably benign |
Het |
| Hpse2 |
A |
T |
19: 43,282,692 (GRCm39) |
V187D |
probably damaging |
Het |
| Itsn2 |
T |
A |
12: 4,679,557 (GRCm39) |
M122K |
possibly damaging |
Het |
| Kcnj11 |
A |
G |
7: 45,749,213 (GRCm39) |
S37P |
probably benign |
Het |
| Kif13b |
T |
C |
14: 65,037,807 (GRCm39) |
I1491T |
probably damaging |
Het |
| Krt36 |
T |
A |
11: 99,995,990 (GRCm39) |
K145* |
probably null |
Het |
| Loxhd1 |
A |
G |
18: 77,456,833 (GRCm39) |
I499V |
probably benign |
Het |
| Map3k4 |
G |
T |
17: 12,490,497 (GRCm39) |
N311K |
probably damaging |
Het |
| Mical2 |
C |
A |
7: 111,934,620 (GRCm39) |
H880N |
probably benign |
Het |
| Myo1d |
A |
T |
11: 80,528,823 (GRCm39) |
C666* |
probably null |
Het |
| Nlrx1 |
C |
T |
9: 44,175,302 (GRCm39) |
R158H |
probably benign |
Het |
| Or10ag53 |
T |
A |
2: 87,082,295 (GRCm39) |
Y5N |
probably benign |
Het |
| Or10q1 |
C |
A |
19: 13,726,994 (GRCm39) |
H175N |
possibly damaging |
Het |
| Or13a17 |
A |
G |
7: 140,271,024 (GRCm39) |
T69A |
probably benign |
Het |
| Or1e21 |
A |
T |
11: 73,344,106 (GRCm39) |
L311I |
probably benign |
Het |
| Or4a78 |
T |
C |
2: 89,497,316 (GRCm39) |
S305G |
probably benign |
Het |
| Pdgfrl |
A |
G |
8: 41,430,094 (GRCm39) |
R154G |
probably benign |
Het |
| Pitpnb |
T |
C |
5: 111,478,699 (GRCm39) |
F7S |
possibly damaging |
Het |
| Ppm1n |
G |
A |
7: 19,013,097 (GRCm39) |
R285C |
probably damaging |
Het |
| Prdm11 |
A |
T |
2: 92,805,957 (GRCm39) |
I331N |
possibly damaging |
Het |
| Ptprb |
C |
T |
10: 116,203,426 (GRCm39) |
P2066L |
probably damaging |
Het |
| Ric8b |
T |
C |
10: 84,828,135 (GRCm39) |
|
probably benign |
Het |
| Setx |
A |
G |
2: 29,063,665 (GRCm39) |
I2320M |
probably damaging |
Het |
| Skil |
C |
A |
3: 31,165,787 (GRCm39) |
S368* |
probably null |
Het |
| Slc1a5 |
G |
T |
7: 16,519,644 (GRCm39) |
|
probably null |
Het |
| Trpm7 |
A |
C |
2: 126,661,811 (GRCm39) |
V1079G |
possibly damaging |
Het |
| Tulp1 |
A |
G |
17: 28,577,633 (GRCm39) |
F2L |
probably damaging |
Het |
| Ulbp3 |
A |
T |
10: 3,075,050 (GRCm39) |
|
noncoding transcript |
Het |
| Zbtb17 |
A |
G |
4: 141,189,224 (GRCm39) |
Y48C |
probably damaging |
Het |
| Zfp605 |
T |
A |
5: 110,275,506 (GRCm39) |
I208N |
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 |
|
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 |
2015-04-16 |
Incidental Mutation