Incidental Mutation 'IGL02469:Chrna3'
| ID |
294666 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chrna3
|
| Ensembl Gene |
ENSMUSG00000032303 |
| Gene Name |
cholinergic receptor, nicotinic, alpha polypeptide 3 |
| Synonyms |
Acra3, Acra-3, A730007P14Rik, (a)3, neuronal nicotinic acetylcholine receptor, alpha 3 subunit, alpha 3 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.315)
|
| Stock # |
IGL02469
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
54917401-54933846 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 54923290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 173
(T173S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150636
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034851]
[ENSMUST00000214204]
|
| AlphaFold |
Q8R4G9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034851
AA Change: T173S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034851
Gene: ENSMUSG00000032303
AA Change: T173S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
34 |
240 |
6.1e-77 |
PFAM |
|
Pfam:Neur_chan_memb
|
247 |
494 |
7.5e-95 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214204
AA Change: T173S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| Meta Mutation Damage Score |
0.0862 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for a targeted null mutation show high postnatal and postweaning mortality. Mutants show reduced bladder contractility resulting in enlarged bladder, infections and urinary stones. Eyes are small, with dilated ocular pupils. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,645,074 (GRCm39) |
Q975L |
probably damaging |
Het |
| Acad10 |
T |
C |
5: 121,783,522 (GRCm39) |
Y301C |
probably damaging |
Het |
| Akr7a5 |
T |
A |
4: 139,041,492 (GRCm39) |
S134T |
probably damaging |
Het |
| Aldh4a1 |
C |
T |
4: 139,375,472 (GRCm39) |
T527I |
probably damaging |
Het |
| Atf2 |
A |
G |
2: 73,676,676 (GRCm39) |
V146A |
probably damaging |
Het |
| C2cd6 |
A |
T |
1: 59,036,640 (GRCm39) |
|
probably benign |
Het |
| Caml |
T |
C |
13: 55,776,390 (GRCm39) |
S210P |
probably damaging |
Het |
| Casp1 |
A |
C |
9: 5,303,105 (GRCm39) |
R186S |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cdhr1 |
T |
A |
14: 36,807,557 (GRCm39) |
Q361L |
possibly damaging |
Het |
| Commd6 |
A |
G |
14: 101,874,463 (GRCm39) |
V47A |
probably damaging |
Het |
| Dmrtc2 |
T |
C |
7: 24,572,138 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,863,215 (GRCm39) |
D721G |
probably damaging |
Het |
| Dpp10 |
T |
C |
1: 123,339,532 (GRCm39) |
S332G |
probably benign |
Het |
| Dst |
A |
G |
1: 34,227,909 (GRCm39) |
E1834G |
probably damaging |
Het |
| Espl1 |
T |
A |
15: 102,222,460 (GRCm39) |
L1034Q |
probably damaging |
Het |
| Gtf2ird2 |
C |
T |
5: 134,220,088 (GRCm39) |
T22M |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,449,411 (GRCm39) |
L389P |
probably damaging |
Het |
| Lipa |
T |
C |
19: 34,471,435 (GRCm39) |
D380G |
probably damaging |
Het |
| Marchf5 |
T |
G |
19: 37,194,674 (GRCm39) |
W111G |
probably damaging |
Het |
| Or8h7 |
T |
C |
2: 86,721,499 (GRCm39) |
T7A |
possibly damaging |
Het |
| Pfkfb2 |
A |
T |
1: 130,627,774 (GRCm39) |
I391N |
probably damaging |
Het |
| Sec31a |
T |
C |
5: 100,533,114 (GRCm39) |
S544G |
probably benign |
Het |
| Slc26a9 |
A |
G |
1: 131,690,674 (GRCm39) |
K530E |
probably damaging |
Het |
| Spaca3 |
G |
A |
11: 80,754,911 (GRCm39) |
|
probably null |
Het |
| Syne3 |
T |
C |
12: 104,920,565 (GRCm39) |
S544G |
probably benign |
Het |
| Tctn3 |
T |
C |
19: 40,585,967 (GRCm39) |
E526G |
probably benign |
Het |
| Tll1 |
A |
T |
8: 64,523,314 (GRCm39) |
I466K |
probably benign |
Het |
| Ttbk1 |
A |
G |
17: 46,781,556 (GRCm39) |
V399A |
possibly damaging |
Het |
| Vmn1r47 |
T |
C |
6: 89,999,435 (GRCm39) |
L189P |
probably damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,751,547 (GRCm39) |
L530* |
probably null |
Het |
| Yipf3 |
T |
C |
17: 46,561,384 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Chrna3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02484:Chrna3
|
APN |
9 |
54,922,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0494:Chrna3
|
UTSW |
9 |
54,929,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Chrna3
|
UTSW |
9 |
54,923,290 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0557:Chrna3
|
UTSW |
9 |
54,923,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0674:Chrna3
|
UTSW |
9 |
54,922,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1552:Chrna3
|
UTSW |
9 |
54,923,192 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1750:Chrna3
|
UTSW |
9 |
54,923,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2191:Chrna3
|
UTSW |
9 |
54,923,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2989:Chrna3
|
UTSW |
9 |
54,923,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3114:Chrna3
|
UTSW |
9 |
54,923,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3153:Chrna3
|
UTSW |
9 |
54,923,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3154:Chrna3
|
UTSW |
9 |
54,923,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3434:Chrna3
|
UTSW |
9 |
54,931,610 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3732:Chrna3
|
UTSW |
9 |
54,923,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3732:Chrna3
|
UTSW |
9 |
54,923,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3733:Chrna3
|
UTSW |
9 |
54,923,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4758:Chrna3
|
UTSW |
9 |
54,929,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4903:Chrna3
|
UTSW |
9 |
54,922,810 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5430:Chrna3
|
UTSW |
9 |
54,920,192 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5795:Chrna3
|
UTSW |
9 |
54,922,552 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6546:Chrna3
|
UTSW |
9 |
54,923,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6806:Chrna3
|
UTSW |
9 |
54,923,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7516:Chrna3
|
UTSW |
9 |
54,922,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7703:Chrna3
|
UTSW |
9 |
54,923,408 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8053:Chrna3
|
UTSW |
9 |
54,922,674 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8762:Chrna3
|
UTSW |
9 |
54,922,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9170:Chrna3
|
UTSW |
9 |
54,933,671 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation