Incidental Mutation 'R2393:Chrna7'
| ID |
247861 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chrna7
|
| Ensembl Gene |
ENSMUSG00000030525 |
| Gene Name |
cholinergic receptor, nicotinic, alpha polypeptide 7 |
| Synonyms |
alpha7 nicotinic receptor, alpha7, alpha7-nAChR, Acra7 |
| MMRRC Submission |
040361-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2393 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
62748440-62862274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 62748994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 496
(A496V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032738
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032738]
|
| AlphaFold |
P49582 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032738
AA Change: A496V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032738
Gene: ENSMUSG00000030525
AA Change: A496V
| 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 |
|
| Meta Mutation Damage Score |
0.1193 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
100% (54/54) |
| 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 |
|---|
| Abca13 |
T |
A |
11: 9,225,057 (GRCm39) |
L512* |
probably null |
Het |
| Adam4 |
A |
T |
12: 81,467,485 (GRCm39) |
F379I |
probably benign |
Het |
| Ano6 |
C |
G |
15: 95,863,906 (GRCm39) |
|
probably benign |
Het |
| Apc2 |
A |
G |
10: 80,148,903 (GRCm39) |
E1319G |
possibly damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,473,535 (GRCm39) |
V1588A |
possibly damaging |
Het |
| Arl8a |
T |
A |
1: 135,080,604 (GRCm39) |
V93E |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Cd200r2 |
T |
A |
16: 44,729,630 (GRCm39) |
I95N |
probably damaging |
Het |
| Cd209d |
A |
G |
8: 3,928,436 (GRCm39) |
|
probably null |
Het |
| Cep290 |
A |
G |
10: 100,397,100 (GRCm39) |
|
probably null |
Het |
| Chd2 |
G |
T |
7: 73,157,631 (GRCm39) |
D171E |
possibly damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Colgalt1 |
C |
G |
8: 72,076,385 (GRCm39) |
T612S |
probably benign |
Het |
| Copg2 |
T |
C |
6: 30,787,893 (GRCm39) |
K602E |
probably benign |
Het |
| Crtc1 |
T |
A |
8: 70,840,808 (GRCm39) |
T473S |
probably benign |
Het |
| Ctbp2 |
A |
T |
7: 132,625,290 (GRCm39) |
|
probably null |
Het |
| Edem1 |
T |
G |
6: 108,829,504 (GRCm39) |
M541R |
probably damaging |
Het |
| Ehmt1 |
A |
C |
2: 24,696,229 (GRCm39) |
V953G |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 129,828,968 (GRCm39) |
|
probably null |
Het |
| Focad |
A |
G |
4: 88,039,567 (GRCm39) |
D10G |
probably damaging |
Het |
| Gfus |
G |
T |
15: 75,798,200 (GRCm39) |
L191I |
probably damaging |
Het |
| Gm5901 |
G |
T |
7: 105,026,996 (GRCm39) |
V255F |
possibly damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,659,840 (GRCm39) |
N416S |
probably damaging |
Het |
| Hspb1 |
T |
C |
5: 135,917,950 (GRCm39) |
F142L |
probably benign |
Het |
| Il17re |
C |
T |
6: 113,439,314 (GRCm39) |
H75Y |
possibly damaging |
Het |
| Kctd3 |
A |
G |
1: 188,713,568 (GRCm39) |
I389T |
probably damaging |
Het |
| Lhx6 |
T |
C |
2: 35,981,402 (GRCm39) |
D63G |
probably benign |
Het |
| Mepe |
A |
G |
5: 104,485,327 (GRCm39) |
T156A |
possibly damaging |
Het |
| Met |
A |
G |
6: 17,534,197 (GRCm39) |
Y680C |
probably damaging |
Het |
| Mrgpra3 |
T |
C |
7: 47,239,365 (GRCm39) |
Y187C |
possibly damaging |
Het |
| Mst1 |
T |
G |
9: 107,960,151 (GRCm39) |
|
probably null |
Het |
| Myh13 |
T |
A |
11: 67,231,184 (GRCm39) |
S394T |
possibly damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,290,529 (GRCm39) |
V1042E |
probably damaging |
Het |
| Ndrg4 |
T |
A |
8: 96,432,839 (GRCm39) |
Y15* |
probably null |
Het |
| Neurl4 |
G |
A |
11: 69,797,900 (GRCm39) |
R720H |
probably damaging |
Het |
| Nfkbia |
A |
G |
12: 55,537,455 (GRCm39) |
|
probably benign |
Het |
| Nwd1 |
T |
A |
8: 73,389,055 (GRCm39) |
M202K |
probably benign |
Het |
| Or10d4 |
G |
T |
9: 39,580,569 (GRCm39) |
C72F |
possibly damaging |
Het |
| Or2av9 |
T |
A |
11: 58,381,546 (GRCm39) |
I12F |
probably benign |
Het |
| Pate2 |
T |
C |
9: 35,581,036 (GRCm39) |
|
probably benign |
Het |
| Pibf1 |
A |
G |
14: 99,480,368 (GRCm39) |
T715A |
probably benign |
Het |
| Pitpnm1 |
T |
C |
19: 4,160,935 (GRCm39) |
L858P |
probably benign |
Het |
| Pla2g3 |
A |
C |
11: 3,443,115 (GRCm39) |
S483R |
probably benign |
Het |
| Rad51ap2 |
T |
A |
12: 11,507,798 (GRCm39) |
D573E |
probably damaging |
Het |
| Rho |
T |
C |
6: 115,912,352 (GRCm39) |
|
probably benign |
Het |
| Rpl39l |
A |
T |
16: 9,992,328 (GRCm39) |
*52L |
probably null |
Het |
| Slco1a5 |
T |
A |
6: 142,194,501 (GRCm39) |
R381W |
possibly damaging |
Het |
| Spns3 |
T |
A |
11: 72,441,059 (GRCm39) |
|
probably benign |
Het |
| Srgap2 |
A |
G |
1: 131,259,872 (GRCm39) |
S493P |
probably benign |
Het |
| Tecpr2 |
T |
C |
12: 110,892,836 (GRCm39) |
S293P |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,583,211 (GRCm39) |
V20815M |
probably benign |
Het |
| Ushbp1 |
T |
C |
8: 71,847,132 (GRCm39) |
I167V |
probably benign |
Het |
| Wdr81 |
C |
T |
11: 75,340,231 (GRCm39) |
A1296T |
probably damaging |
Het |
| Zmym2 |
A |
G |
14: 57,158,180 (GRCm39) |
Y573C |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAACAGAAGCTGCTGGGATC -3'
(R):5'- TGGTACACACCCCTCTGATG -3'
Sequencing Primer
(F):5'- AACAGAAGCTGCTGGGATCTTTTTAG -3'
(R):5'- ACCTGGCCAAGATCCTGGAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation