Incidental Mutation 'IGL00742:Chrna9'
| ID |
9702 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chrna9
|
| Ensembl Gene |
ENSMUSG00000029205 |
| Gene Name |
cholinergic receptor, nicotinic, alpha polypeptide 9 |
| Synonyms |
Acra9, 2410015I05Rik, Gm8311 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
IGL00742
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
66092264-66134669 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66128458 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 218
(E218G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144364
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031108]
[ENSMUST00000201814]
[ENSMUST00000202957]
|
| AlphaFold |
G3X8Z7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031108
AA Change: E222G
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000031108
Gene: ENSMUSG00000029205
AA Change: E222G
| 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 benign
Transcript: ENSMUST00000201814
AA Change: E218G
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000144364
Gene: ENSMUSG00000029205
AA Change: E218G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neur_chan_LBD
|
27 |
233 |
8.1e-71 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202957
|
| Coding Region Coverage |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck5 |
G |
T |
15: 76,473,300 (GRCm39) |
A50S |
possibly damaging |
Het |
| Adgrg2 |
C |
T |
X: 159,271,715 (GRCm39) |
T778M |
probably damaging |
Het |
| Aimp1 |
G |
A |
3: 132,377,742 (GRCm39) |
Q208* |
probably null |
Het |
| Auh |
T |
C |
13: 52,992,138 (GRCm39) |
E210G |
probably damaging |
Het |
| Cdh20 |
T |
G |
1: 109,993,356 (GRCm39) |
N270K |
probably benign |
Het |
| Cntn5 |
G |
T |
9: 9,976,302 (GRCm39) |
T214K |
probably damaging |
Het |
| Col11a1 |
A |
T |
3: 113,917,964 (GRCm39) |
D766V |
unknown |
Het |
| Ddb1 |
A |
G |
19: 10,588,124 (GRCm39) |
N203S |
probably benign |
Het |
| Eefsec |
A |
T |
6: 88,353,261 (GRCm39) |
L136Q |
possibly damaging |
Het |
| Hdac6 |
T |
C |
X: 7,797,568 (GRCm39) |
D1019G |
probably benign |
Het |
| Ift88 |
T |
A |
14: 57,718,843 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
T |
A |
7: 67,839,771 (GRCm39) |
C693S |
probably benign |
Het |
| Il18r1 |
T |
A |
1: 40,520,151 (GRCm39) |
S181T |
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,984,785 (GRCm39) |
Q291R |
probably damaging |
Het |
| Krt81 |
G |
A |
15: 101,358,159 (GRCm39) |
R365C |
probably benign |
Het |
| Lpgat1 |
A |
G |
1: 191,492,321 (GRCm39) |
E269G |
probably benign |
Het |
| Lpin3 |
A |
G |
2: 160,735,918 (GRCm39) |
D66G |
probably damaging |
Het |
| Map9 |
T |
C |
3: 82,270,727 (GRCm39) |
V97A |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,328,769 (GRCm39) |
E1129G |
probably damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,935,104 (GRCm39) |
H200L |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,438,788 (GRCm39) |
L2031S |
probably damaging |
Het |
| Nfatc1 |
C |
T |
18: 80,741,229 (GRCm39) |
R243H |
probably benign |
Het |
| Omg |
T |
A |
11: 79,394,739 (GRCm39) |
|
probably benign |
Het |
| Or51ah3 |
A |
T |
7: 103,210,563 (GRCm39) |
Y293F |
probably damaging |
Het |
| Postn |
T |
A |
3: 54,280,315 (GRCm39) |
N413K |
possibly damaging |
Het |
| Ppp1r3a |
T |
C |
6: 14,718,608 (GRCm39) |
T769A |
probably benign |
Het |
| Pvr |
G |
A |
7: 19,648,784 (GRCm39) |
P244S |
probably damaging |
Het |
| Rabl6 |
T |
C |
2: 25,478,699 (GRCm39) |
E244G |
probably damaging |
Het |
| Satb2 |
A |
T |
1: 56,870,700 (GRCm39) |
N428K |
possibly damaging |
Het |
| Svopl |
A |
G |
6: 38,007,952 (GRCm39) |
|
probably null |
Het |
| Synpo2 |
G |
T |
3: 122,907,525 (GRCm39) |
P597Q |
probably damaging |
Het |
| Tacc3 |
T |
A |
5: 33,818,578 (GRCm39) |
H4Q |
possibly damaging |
Het |
| Ugt2b5 |
C |
T |
5: 87,275,673 (GRCm39) |
G393S |
probably damaging |
Het |
| Vmn2r5 |
A |
G |
3: 64,398,834 (GRCm39) |
I715T |
possibly damaging |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation