Incidental Mutation 'R5242:Chrna9'
| ID |
400898 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chrna9
|
| Ensembl Gene |
ENSMUSG00000029205 |
| Gene Name |
cholinergic receptor, nicotinic, alpha polypeptide 9 |
| Synonyms |
Acra9, 2410015I05Rik, Gm8311 |
| MMRRC Submission |
042813-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R5242 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
66092264-66134669 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66134423 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 425
(T425A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031108]
|
| AlphaFold |
G3X8Z7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031108
AA Change: T425A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031108
Gene: ENSMUSG00000029205
AA Change: T425A
| 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: ENSMUST00000126313
AA Change: T164A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201562
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201664
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
T |
C |
8: 84,657,711 (GRCm39) |
V439A |
possibly damaging |
Het |
| Aldh6a1 |
A |
G |
12: 84,483,157 (GRCm39) |
V390A |
probably damaging |
Het |
| Alox5 |
T |
C |
6: 116,437,927 (GRCm39) |
D20G |
probably damaging |
Het |
| Atp2a2 |
A |
T |
5: 122,600,009 (GRCm39) |
F487I |
probably damaging |
Het |
| BC048679 |
G |
A |
7: 81,145,091 (GRCm39) |
T84M |
probably damaging |
Het |
| C2cd3 |
T |
C |
7: 100,039,373 (GRCm39) |
S191P |
probably benign |
Het |
| Cdh6 |
A |
G |
15: 13,064,497 (GRCm39) |
V131A |
probably benign |
Het |
| Cplane2 |
T |
C |
4: 140,947,158 (GRCm39) |
Y180H |
probably damaging |
Het |
| Ddx39a |
A |
G |
8: 84,448,440 (GRCm39) |
S231G |
probably benign |
Het |
| Diaph1 |
C |
T |
18: 37,984,688 (GRCm39) |
G1176R |
probably damaging |
Het |
| Dnah10 |
G |
T |
5: 124,864,484 (GRCm39) |
V2230L |
probably benign |
Het |
| Foxo1 |
T |
C |
3: 52,176,676 (GRCm39) |
S152P |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,805,109 (GRCm39) |
D1250E |
probably benign |
Het |
| G6pd2 |
A |
G |
5: 61,966,785 (GRCm39) |
I187V |
probably benign |
Het |
| Gm10113 |
T |
C |
13: 46,330,992 (GRCm39) |
|
noncoding transcript |
Het |
| Hoxd1 |
A |
G |
2: 74,593,792 (GRCm39) |
D116G |
probably damaging |
Het |
| Igkv13-85 |
A |
T |
6: 68,907,544 (GRCm39) |
I19K |
probably benign |
Het |
| Jag2 |
C |
T |
12: 112,880,486 (GRCm39) |
V288M |
probably damaging |
Het |
| Ndrg2 |
A |
G |
14: 52,148,541 (GRCm39) |
|
probably null |
Het |
| Neurl3 |
G |
A |
1: 36,308,501 (GRCm39) |
Q104* |
probably null |
Het |
| Nudt16l1 |
C |
T |
16: 4,757,485 (GRCm39) |
R133W |
probably damaging |
Het |
| Oasl2 |
A |
T |
5: 115,043,122 (GRCm39) |
Q298L |
possibly damaging |
Het |
| Or3a10 |
A |
T |
11: 73,935,848 (GRCm39) |
M84K |
possibly damaging |
Het |
| Or51a25 |
C |
T |
7: 102,373,483 (GRCm39) |
M71I |
probably benign |
Het |
| Pnma2 |
C |
A |
14: 67,153,746 (GRCm39) |
Q57K |
probably benign |
Het |
| Pramel22 |
A |
T |
4: 143,382,181 (GRCm39) |
L172I |
probably benign |
Het |
| Rps7 |
T |
A |
12: 28,681,136 (GRCm39) |
E188D |
probably benign |
Het |
| Rrp1b |
T |
C |
17: 32,270,677 (GRCm39) |
V212A |
possibly damaging |
Het |
| Serpina9 |
C |
A |
12: 103,974,644 (GRCm39) |
A170S |
probably benign |
Het |
| Shmt2 |
C |
T |
10: 127,354,789 (GRCm39) |
V299I |
probably benign |
Het |
| Siae |
C |
T |
9: 37,556,148 (GRCm39) |
P435S |
probably damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,630,242 (GRCm39) |
S99P |
probably benign |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Stimate |
T |
A |
14: 30,547,793 (GRCm39) |
F36I |
probably damaging |
Het |
| Tas2r124 |
T |
C |
6: 132,732,503 (GRCm39) |
Y271H |
possibly damaging |
Het |
| Thsd7a |
A |
T |
6: 12,327,582 (GRCm39) |
I1430K |
probably damaging |
Het |
| Trmt9b |
A |
G |
8: 36,979,084 (GRCm39) |
K229R |
probably benign |
Het |
| Tsc22d2 |
T |
A |
3: 58,323,360 (GRCm39) |
V84E |
possibly damaging |
Het |
| Ube2s |
C |
T |
7: 4,813,434 (GRCm39) |
R110Q |
possibly damaging |
Het |
| Usp3 |
C |
T |
9: 66,434,432 (GRCm39) |
C283Y |
probably damaging |
Het |
| Vmn2r81 |
T |
A |
10: 79,129,309 (GRCm39) |
Y733* |
probably null |
Het |
| Wdr75 |
T |
A |
1: 45,856,487 (GRCm39) |
C503* |
probably null |
Het |
| Zfp764 |
T |
C |
7: 127,004,541 (GRCm39) |
M197V |
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 |
|
|
R6760:Chrna9
|
UTSW |
5 |
66,128,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TCTACGATGTGGGTGAGAGC -3'
(R):5'- CTCAAACACTGGTGGAGATCAC -3'
Sequencing Primer
(F):5'- TTAGCCCCCGTCACAGC -3'
(R):5'- GTGGAGATCACACGTGAAATTTATTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation