Incidental Mutation 'R7189:Chrna7'
ID |
559493 |
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 |
045238-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7189 (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 C
at 62755775 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 257
(D257G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032738
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032738]
|
AlphaFold |
P49582 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032738
AA Change: D257G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000032738 Gene: ENSMUSG00000030525 AA Change: D257G
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: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
95% (57/60) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb2 |
G |
T |
2: 103,397,861 (GRCm39) |
A264S |
probably benign |
Het |
Atosa |
T |
C |
9: 74,911,633 (GRCm39) |
C42R |
probably damaging |
Het |
Atr |
G |
T |
9: 95,744,844 (GRCm39) |
E54* |
probably null |
Het |
Bmp4 |
A |
G |
14: 46,621,456 (GRCm39) |
S363P |
probably damaging |
Het |
Cfap54 |
C |
A |
10: 92,773,590 (GRCm39) |
A2077S |
unknown |
Het |
Chrnd |
C |
T |
1: 87,118,780 (GRCm39) |
R46W |
probably damaging |
Het |
Cntn2 |
A |
G |
1: 132,444,824 (GRCm39) |
I851T |
probably damaging |
Het |
Col3a1 |
T |
A |
1: 45,372,817 (GRCm39) |
I534K |
unknown |
Het |
Cyp3a25 |
A |
T |
5: 145,939,870 (GRCm39) |
L46I |
probably benign |
Het |
Dnah7b |
G |
C |
1: 46,281,302 (GRCm39) |
G2788R |
probably damaging |
Het |
Dnpep |
T |
C |
1: 75,290,074 (GRCm39) |
E301G |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,986,690 (GRCm39) |
S30P |
probably benign |
Het |
Elk4 |
A |
G |
1: 131,947,127 (GRCm39) |
I373V |
probably damaging |
Het |
Fam161b |
T |
C |
12: 84,395,420 (GRCm39) |
S508G |
probably damaging |
Het |
Fgf10 |
A |
G |
13: 118,925,659 (GRCm39) |
E146G |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,823,581 (GRCm39) |
D6438G |
possibly damaging |
Het |
Garin2 |
C |
T |
12: 78,758,982 (GRCm39) |
P101S |
probably benign |
Het |
Gask1b |
T |
A |
3: 79,794,114 (GRCm39) |
L194* |
probably null |
Het |
Gm49355 |
T |
A |
14: 12,296,672 (GRCm38) |
C10* |
probably null |
Het |
Hfm1 |
A |
G |
5: 107,049,569 (GRCm39) |
|
probably null |
Het |
Hivep3 |
T |
C |
4: 119,989,416 (GRCm39) |
S1956P |
probably damaging |
Het |
Hrh2 |
A |
G |
13: 54,375,270 (GRCm39) |
S369G |
unknown |
Het |
Hspg2 |
T |
C |
4: 137,260,872 (GRCm39) |
|
probably null |
Het |
Hsph1 |
T |
C |
5: 149,553,925 (GRCm39) |
Y181C |
probably damaging |
Het |
Kcnh8 |
A |
G |
17: 53,201,145 (GRCm39) |
|
probably null |
Het |
Kctd1 |
C |
T |
18: 15,195,700 (GRCm39) |
E308K |
possibly damaging |
Het |
Kdm8 |
A |
T |
7: 125,060,103 (GRCm39) |
Y335F |
probably damaging |
Het |
Kif2b |
C |
G |
11: 91,467,963 (GRCm39) |
G107R |
probably benign |
Het |
Lama4 |
G |
A |
10: 38,841,729 (GRCm39) |
|
probably benign |
Het |
Lepr |
T |
C |
4: 101,671,961 (GRCm39) |
V995A |
probably benign |
Het |
Mfsd4a |
A |
T |
1: 131,980,131 (GRCm39) |
V375E |
probably damaging |
Het |
Mgl2 |
G |
T |
11: 70,027,869 (GRCm39) |
W359L |
probably damaging |
Het |
Muc5b |
C |
A |
7: 141,414,798 (GRCm39) |
Y2581* |
probably null |
Het |
Nol10 |
G |
T |
12: 17,423,562 (GRCm39) |
|
probably null |
Het |
Or4k47 |
T |
A |
2: 111,451,538 (GRCm39) |
M294L |
probably benign |
Het |
Or52n3 |
A |
T |
7: 104,530,348 (GRCm39) |
K145* |
probably null |
Het |
Otud3 |
C |
T |
4: 138,636,865 (GRCm39) |
V99M |
probably damaging |
Het |
Parvb |
T |
C |
15: 84,187,672 (GRCm39) |
|
probably null |
Het |
Pclo |
C |
A |
5: 14,571,932 (GRCm39) |
P439Q |
possibly damaging |
Het |
Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
Pkn1 |
A |
T |
8: 84,419,302 (GRCm39) |
H100Q |
possibly damaging |
Het |
Plce1 |
A |
T |
19: 38,748,581 (GRCm39) |
I1771F |
probably damaging |
Het |
Plxna2 |
G |
T |
1: 194,483,366 (GRCm39) |
R1559L |
possibly damaging |
Het |
Ppp2r3d |
T |
A |
9: 101,003,621 (GRCm39) |
I416L |
possibly damaging |
Het |
Pramel42 |
T |
A |
5: 94,685,610 (GRCm39) |
Y423* |
probably null |
Het |
Robo1 |
C |
A |
16: 72,757,039 (GRCm39) |
C333* |
probably null |
Het |
Ryr2 |
A |
T |
13: 11,898,009 (GRCm39) |
Y129N |
probably damaging |
Het |
Schip1 |
A |
T |
3: 68,525,032 (GRCm39) |
K359M |
probably damaging |
Het |
Schip1 |
G |
T |
3: 68,525,033 (GRCm39) |
K359N |
probably damaging |
Het |
Sh2d2a |
T |
A |
3: 87,755,668 (GRCm39) |
S65T |
possibly damaging |
Het |
Ssrp1 |
G |
A |
2: 84,875,906 (GRCm39) |
M588I |
probably benign |
Het |
Stim2 |
T |
A |
5: 54,273,470 (GRCm39) |
C567S |
probably benign |
Het |
Syne1 |
C |
A |
10: 5,374,295 (GRCm39) |
A171S |
probably benign |
Het |
Tigd3 |
A |
G |
19: 5,943,050 (GRCm39) |
S27P |
probably benign |
Het |
Vipr1 |
C |
A |
9: 121,493,620 (GRCm39) |
Q224K |
probably damaging |
Het |
Vmn1r75 |
T |
A |
7: 11,614,475 (GRCm39) |
M69K |
possibly damaging |
Het |
Vmn2r72 |
T |
G |
7: 85,404,125 (GRCm39) |
D22A |
probably benign |
Het |
Zbtb24 |
G |
A |
10: 41,340,472 (GRCm39) |
V523I |
probably benign |
Het |
Zbtb43 |
A |
G |
2: 33,352,307 (GRCm39) |
F20S |
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 |
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 |
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'- TTCACAAGACCGGGGAATCC -3'
(R):5'- TCCCTGGCAAAAGGAATGAG -3'
Sequencing Primer
(F):5'- TGTCTCCTTAAGAATCAGAACCAGGG -3'
(R):5'- GAATGAGAAGTTCTATGAATGCTGC -3'
|
Posted On |
2019-06-26 |