Incidental Mutation 'R6760:Chrna9'
| ID |
531187 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chrna9
|
| Ensembl Gene |
ENSMUSG00000029205 |
| Gene Name |
cholinergic receptor, nicotinic, alpha polypeptide 9 |
| Synonyms |
Acra9, 2410015I05Rik, Gm8311 |
| MMRRC Submission |
044876-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R6760 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
66092264-66134669 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 66128571 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 260
(Y260N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031108]
[ENSMUST00000201814]
[ENSMUST00000202957]
|
| AlphaFold |
G3X8Z7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031108
AA Change: Y260N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031108
Gene: ENSMUSG00000029205
AA Change: Y260N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neur_chan_LBD
|
31 |
237 |
2.7e-69 |
PFAM |
|
Pfam:Neur_chan_memb
|
244 |
475 |
8.6e-51 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201664
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201814
AA Change: Y256N
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144364
Gene: ENSMUSG00000029205
AA Change: Y256N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neur_chan_LBD
|
27 |
233 |
8.1e-71 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202957
|
| Meta Mutation Damage Score |
0.9444 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.8%
|
| Validation Efficiency |
97% (35/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the ligand-gated ionic channel family and nicotinic acetylcholine receptor gene superfamily. It encodes a plasma membrane protein that forms homo- or hetero-oligomeric divalent cation channels. This protein is involved in cochlea hair cell development and is also expressed in the outer hair cells (OHCs) of the adult cochlea. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous mutation of this gene results in abnormal innervation of the outer hair cells and depressed olivocochlear response. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco1 |
C |
A |
4: 40,180,210 (GRCm39) |
C370* |
probably null |
Het |
| Akap6 |
C |
T |
12: 53,186,561 (GRCm39) |
S1325L |
probably damaging |
Het |
| Atp2a3 |
A |
G |
11: 72,873,566 (GRCm39) |
D813G |
probably damaging |
Het |
| Baz2b |
T |
A |
2: 59,792,776 (GRCm39) |
I451F |
probably benign |
Het |
| Calm2 |
T |
C |
17: 87,743,123 (GRCm39) |
D65G |
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,141,947 (GRCm39) |
V3049M |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,232,356 (GRCm39) |
L869P |
probably damaging |
Het |
| Clock |
G |
A |
5: 76,374,823 (GRCm39) |
P782L |
unknown |
Het |
| Coro2a |
A |
G |
4: 46,540,572 (GRCm39) |
M449T |
probably benign |
Het |
| Crispld1 |
T |
G |
1: 17,821,025 (GRCm39) |
V355G |
possibly damaging |
Het |
| Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Gpr37 |
T |
C |
6: 25,669,168 (GRCm39) |
I559V |
probably benign |
Het |
| Grik5 |
A |
G |
7: 24,758,364 (GRCm39) |
|
probably null |
Het |
| Itga8 |
T |
C |
2: 12,306,451 (GRCm39) |
Y48C |
probably damaging |
Het |
| Manba |
T |
C |
3: 135,248,212 (GRCm39) |
V367A |
probably damaging |
Het |
| Mrgpra1 |
G |
A |
7: 46,984,789 (GRCm39) |
R297W |
probably benign |
Het |
| Myh7b |
C |
A |
2: 155,462,038 (GRCm39) |
Y311* |
probably null |
Het |
| Nmd3 |
T |
A |
3: 69,654,170 (GRCm39) |
|
probably null |
Het |
| Or5m9 |
T |
A |
2: 85,877,358 (GRCm39) |
C177* |
probably null |
Het |
| Pakap |
T |
C |
4: 57,856,026 (GRCm39) |
W493R |
probably damaging |
Het |
| Pcdhb11 |
A |
T |
18: 37,554,637 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
C |
T |
2: 135,313,980 (GRCm39) |
T1144M |
possibly damaging |
Het |
| Sfrp1 |
A |
G |
8: 23,901,904 (GRCm39) |
D35G |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Timeless |
A |
G |
10: 128,081,986 (GRCm39) |
K537R |
probably benign |
Het |
| Tnrc6a |
T |
A |
7: 122,771,222 (GRCm39) |
V1004E |
probably damaging |
Het |
| Tubb4a |
T |
C |
17: 57,387,796 (GRCm39) |
E410G |
possibly damaging |
Het |
| U2surp |
G |
A |
9: 95,375,764 (GRCm39) |
A143V |
probably benign |
Het |
| Vmn2r118 |
T |
A |
17: 55,899,714 (GRCm39) |
H730L |
possibly damaging |
Het |
| Vmn2r28 |
G |
A |
7: 5,484,229 (GRCm39) |
T657I |
probably damaging |
Het |
| Ybey |
A |
T |
10: 76,304,033 (GRCm39) |
N56K |
probably benign |
Het |
|
| Other mutations in Chrna9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Chrna9
|
APN |
5 |
66,126,600 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL00742:Chrna9
|
APN |
5 |
66,128,458 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01611:Chrna9
|
APN |
5 |
66,128,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02376:Chrna9
|
APN |
5 |
66,128,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0403:Chrna9
|
UTSW |
5 |
66,125,235 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1506:Chrna9
|
UTSW |
5 |
66,126,479 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2943:Chrna9
|
UTSW |
5 |
66,134,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4243:Chrna9
|
UTSW |
5 |
66,092,379 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4290:Chrna9
|
UTSW |
5 |
66,134,481 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4607:Chrna9
|
UTSW |
5 |
66,134,078 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4737:Chrna9
|
UTSW |
5 |
66,125,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4814:Chrna9
|
UTSW |
5 |
66,134,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4932:Chrna9
|
UTSW |
5 |
66,126,533 (GRCm39) |
nonsense |
probably null |
|
|
R5044:Chrna9
|
UTSW |
5 |
66,128,359 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5128:Chrna9
|
UTSW |
5 |
66,128,565 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5213:Chrna9
|
UTSW |
5 |
66,128,427 (GRCm39) |
nonsense |
probably null |
|
|
R5242:Chrna9
|
UTSW |
5 |
66,134,423 (GRCm39) |
missense |
probably benign |
|
|
R7131:Chrna9
|
UTSW |
5 |
66,134,484 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9328:Chrna9
|
UTSW |
5 |
66,128,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9506:Chrna9
|
UTSW |
5 |
66,128,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Chrna9
|
UTSW |
5 |
66,128,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1187:Chrna9
|
UTSW |
5 |
66,134,123 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCAATGCCCTGGACAGTGG -3'
(R):5'- TGGGACATACACACGCCATC -3'
Sequencing Primer
(F):5'- CTCTGACTTCATTGAAGACGTG -3'
(R):5'- GCCATCACAACTGCTACAAAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation