Incidental Mutation 'R6918:Chrna7'
| ID |
539444 |
| 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 |
045005-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6918 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
62748440-62862274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 62809299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 76
(I76F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032738
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032738]
|
| AlphaFold |
P49582 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032738
AA Change: I76F
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000032738
Gene: ENSMUSG00000030525
AA Change: I76F
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (48/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
C |
17: 24,627,632 (GRCm39) |
K1359Q |
probably damaging |
Het |
| Ace |
T |
C |
11: 105,863,769 (GRCm39) |
Y406H |
probably damaging |
Het |
| Acsl6 |
A |
G |
11: 54,232,582 (GRCm39) |
|
probably null |
Het |
| Alms1 |
T |
A |
6: 85,599,643 (GRCm39) |
Y1959N |
possibly damaging |
Het |
| Cuedc1 |
C |
T |
11: 88,077,899 (GRCm39) |
T296I |
probably benign |
Het |
| Ddc |
A |
G |
11: 11,769,307 (GRCm39) |
V409A |
probably damaging |
Het |
| Dhx8 |
T |
A |
11: 101,629,247 (GRCm39) |
Y212* |
probably null |
Het |
| Dnah6 |
T |
A |
6: 73,158,738 (GRCm39) |
K622* |
probably null |
Het |
| Dscaml1 |
A |
G |
9: 45,341,805 (GRCm39) |
H72R |
probably benign |
Het |
| Dyrk1b |
A |
G |
7: 27,885,350 (GRCm39) |
D396G |
probably damaging |
Het |
| Gstm2 |
A |
G |
3: 107,892,557 (GRCm39) |
|
probably null |
Het |
| Hsd3b1 |
A |
G |
3: 98,760,425 (GRCm39) |
Y189H |
probably damaging |
Het |
| Kif1c |
G |
A |
11: 70,597,813 (GRCm39) |
E356K |
probably damaging |
Het |
| Kirrel2 |
A |
C |
7: 30,150,239 (GRCm39) |
C17G |
probably damaging |
Het |
| Klhl12 |
A |
G |
1: 134,403,584 (GRCm39) |
H259R |
possibly damaging |
Het |
| Krt1 |
A |
G |
15: 101,758,612 (GRCm39) |
V184A |
probably damaging |
Het |
| Lmod2 |
A |
T |
6: 24,603,594 (GRCm39) |
N190Y |
probably benign |
Het |
| Lrp2 |
A |
C |
2: 69,319,649 (GRCm39) |
V1958G |
probably damaging |
Het |
| Ly6h |
T |
C |
15: 75,437,507 (GRCm39) |
S37G |
probably damaging |
Het |
| Man2a2 |
A |
T |
7: 80,002,940 (GRCm39) |
H1056Q |
possibly damaging |
Het |
| Misp3 |
T |
G |
8: 84,738,313 (GRCm39) |
M1L |
probably benign |
Het |
| Mixl1 |
T |
A |
1: 180,522,243 (GRCm39) |
I213F |
probably benign |
Het |
| Morc3 |
T |
C |
16: 93,650,023 (GRCm39) |
I268T |
probably benign |
Het |
| Mtx2 |
C |
T |
2: 74,706,697 (GRCm39) |
T224I |
probably damaging |
Het |
| Or8c15 |
G |
A |
9: 38,120,948 (GRCm39) |
V198M |
possibly damaging |
Het |
| Oscp1 |
A |
C |
4: 125,970,571 (GRCm39) |
D120A |
possibly damaging |
Het |
| Parp1 |
G |
A |
1: 180,416,235 (GRCm39) |
V545I |
possibly damaging |
Het |
| Pipox |
A |
G |
11: 77,772,380 (GRCm39) |
I330T |
probably damaging |
Het |
| Pkp2 |
A |
G |
16: 16,090,082 (GRCm39) |
Y790C |
probably damaging |
Het |
| Pomt1 |
T |
A |
2: 32,142,873 (GRCm39) |
|
probably null |
Het |
| Pp2d1 |
G |
A |
17: 53,822,487 (GRCm39) |
T193M |
probably damaging |
Het |
| Prkra |
G |
T |
2: 76,460,797 (GRCm39) |
H300Q |
probably damaging |
Het |
| Ror2 |
T |
G |
13: 53,265,487 (GRCm39) |
N523T |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,069,831 (GRCm39) |
D1355E |
unknown |
Het |
| Rsph4a |
T |
C |
10: 33,781,272 (GRCm39) |
Y41H |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,162,557 (GRCm39) |
I230F |
probably damaging |
Het |
| Taar7e |
T |
A |
10: 23,913,513 (GRCm39) |
M1K |
probably null |
Het |
| Tex15 |
T |
G |
8: 34,063,212 (GRCm39) |
L1155V |
probably benign |
Het |
| Tmprss3 |
T |
C |
17: 31,407,331 (GRCm39) |
K321E |
probably benign |
Het |
| Trappc14 |
A |
G |
5: 138,258,926 (GRCm39) |
V211A |
probably benign |
Het |
| Tsc2 |
A |
T |
17: 24,832,203 (GRCm39) |
C728S |
probably damaging |
Het |
| Ube2e3 |
A |
T |
2: 78,750,383 (GRCm39) |
K203M |
probably damaging |
Het |
| Unc50 |
A |
T |
1: 37,477,783 (GRCm39) |
T222S |
probably damaging |
Het |
| Vmn1r236 |
A |
T |
17: 21,507,878 (GRCm39) |
H332L |
probably benign |
Het |
| Vmn2r7 |
G |
A |
3: 64,598,760 (GRCm39) |
T599I |
probably benign |
Het |
| Zfp334 |
A |
T |
2: 165,223,799 (GRCm39) |
D81E |
possibly damaging |
Het |
| Zfp710 |
A |
G |
7: 79,731,788 (GRCm39) |
I322V |
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 |
|
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 |
|
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'- TGTCAGGCTCTCATCCTTGG -3'
(R):5'- ACTCTCGGGAAATGTTACTGG -3'
Sequencing Primer
(F):5'- TTGGCTCCATCCTATCAAACATAG -3'
(R):5'- ACTCTCGGGAAATGTTACTGGCATAG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation