Incidental Mutation 'R2294:Chrna7'
| ID |
245100 |
| 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 |
040293-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2294 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
62748440-62862274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62760172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 135
(S135T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032738
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032738]
|
| AlphaFold |
P49582 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032738
AA Change: S135T
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000032738
Gene: ENSMUSG00000030525
AA Change: S135T
| 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 |
0.0636 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (30/30) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
C |
T |
15: 98,495,322 (GRCm39) |
V673I |
possibly damaging |
Het |
| Bsn |
C |
T |
9: 107,990,266 (GRCm39) |
A1829T |
possibly damaging |
Het |
| Chchd3 |
T |
C |
6: 32,829,122 (GRCm39) |
E166G |
probably damaging |
Het |
| Dxo |
G |
A |
17: 35,057,962 (GRCm39) |
|
probably null |
Het |
| Fbxw18 |
A |
G |
9: 109,505,865 (GRCm39) |
S469P |
probably damaging |
Het |
| G3bp2 |
G |
A |
5: 92,205,887 (GRCm39) |
R290C |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,026,591 (GRCm39) |
L103P |
probably damaging |
Het |
| Lrig3 |
C |
T |
10: 125,802,363 (GRCm39) |
R7* |
probably null |
Het |
| Lrp6 |
A |
G |
6: 134,434,705 (GRCm39) |
C1333R |
probably damaging |
Het |
| Luzp2 |
T |
C |
7: 54,821,938 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
A |
T |
11: 58,277,680 (GRCm39) |
N154I |
probably damaging |
Het |
| Ndufs1 |
A |
T |
1: 63,200,155 (GRCm39) |
D252E |
probably damaging |
Het |
| Nos3 |
T |
A |
5: 24,569,855 (GRCm39) |
V7E |
probably damaging |
Het |
| Or1e33 |
A |
G |
11: 73,738,312 (GRCm39) |
L213P |
probably damaging |
Het |
| Osbpl6 |
A |
T |
2: 76,407,423 (GRCm39) |
D446V |
possibly damaging |
Het |
| Pik3c2b |
C |
A |
1: 132,994,513 (GRCm39) |
P159H |
probably damaging |
Het |
| Pkhd1l1 |
C |
T |
15: 44,343,003 (GRCm39) |
T160I |
probably damaging |
Het |
| Prelid3a |
C |
T |
18: 67,605,941 (GRCm39) |
T16M |
probably damaging |
Het |
| Prl7b1 |
A |
T |
13: 27,786,854 (GRCm39) |
M125K |
possibly damaging |
Het |
| Rars1 |
C |
A |
11: 35,708,363 (GRCm39) |
|
probably benign |
Het |
| Ripk1 |
A |
G |
13: 34,200,991 (GRCm39) |
T235A |
probably benign |
Het |
| Slc38a2 |
C |
A |
15: 96,589,643 (GRCm39) |
V363L |
probably benign |
Het |
| Slc6a21 |
G |
A |
7: 44,929,952 (GRCm39) |
A147T |
possibly damaging |
Het |
| Tgfb3 |
T |
C |
12: 86,116,684 (GRCm39) |
N118S |
probably benign |
Het |
| Tmem175 |
T |
C |
5: 108,786,525 (GRCm39) |
|
probably benign |
Het |
| Tmem232 |
A |
T |
17: 65,757,436 (GRCm39) |
N252K |
probably benign |
Het |
| Trappc8 |
G |
T |
18: 20,999,211 (GRCm39) |
C305* |
probably null |
Het |
| Tyro3 |
T |
C |
2: 119,636,126 (GRCm39) |
V223A |
probably damaging |
Het |
| Yipf2 |
C |
T |
9: 21,501,177 (GRCm39) |
V74M |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTACAGAGAGGACACCCAGAG -3'
(R):5'- GCAGGTGTGAGATTGCCTAG -3'
Sequencing Primer
(F):5'- CCCAGAGTGAGCTGAAGAGAC -3'
(R):5'- TAGTGACAAGCAGGGACCCTTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation