Incidental Mutation 'R5128:Chrna9'
ID |
394855 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chrna9
|
Ensembl Gene |
ENSMUSG00000029205 |
Gene Name |
cholinergic receptor, nicotinic, alpha polypeptide 9 |
Synonyms |
Acra9, 2410015I05Rik, Gm8311 |
MMRRC Submission |
042716-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R5128 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
66092264-66134669 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 66128565 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 258
(S258G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031108
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031108]
[ENSMUST00000201814]
[ENSMUST00000202957]
|
AlphaFold |
G3X8Z7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031108
AA Change: S258G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000031108 Gene: ENSMUSG00000029205 AA Change: S258G
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 |
probably benign
Transcript: ENSMUST00000153624
AA Change: S254G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000118246 Gene: ENSMUSG00000029205 AA Change: S254G
Domain | Start | End | E-Value | Type |
Pfam:Neur_chan_LBD
|
27 |
233 |
1.3e-69 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201664
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201814
AA Change: S254G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000144364 Gene: ENSMUSG00000029205 AA Change: S254G
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 |
0.1898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
100% (48/48) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
A |
G |
7: 45,639,070 (GRCm39) |
S958P |
probably benign |
Het |
Ahnak |
T |
C |
19: 8,994,451 (GRCm39) |
L5245P |
probably damaging |
Het |
Alg5 |
T |
A |
3: 54,649,558 (GRCm39) |
|
probably null |
Het |
Anapc1 |
A |
G |
2: 128,501,837 (GRCm39) |
V735A |
probably benign |
Het |
Arhgap45 |
A |
G |
10: 79,866,793 (GRCm39) |
T1099A |
probably benign |
Het |
Cacna1e |
A |
C |
1: 154,277,767 (GRCm39) |
S2062A |
probably damaging |
Het |
Ctcfl |
T |
C |
2: 172,959,189 (GRCm39) |
E179G |
probably benign |
Het |
Dcdc2a |
C |
A |
13: 25,286,512 (GRCm39) |
A145E |
probably damaging |
Het |
Dgkz |
A |
G |
2: 91,773,028 (GRCm39) |
I343T |
probably damaging |
Het |
Dnah1 |
T |
C |
14: 31,018,152 (GRCm39) |
|
probably null |
Het |
Dqx1 |
T |
C |
6: 83,037,548 (GRCm39) |
L374P |
probably damaging |
Het |
Entpd5 |
A |
T |
12: 84,441,464 (GRCm39) |
F101L |
probably benign |
Het |
Esco1 |
A |
T |
18: 10,567,468 (GRCm39) |
|
probably benign |
Het |
Fgf1 |
C |
A |
18: 38,975,078 (GRCm39) |
V124L |
probably benign |
Het |
Gm16380 |
C |
T |
9: 53,791,397 (GRCm39) |
|
noncoding transcript |
Het |
Grid2 |
G |
A |
6: 64,642,982 (GRCm39) |
A915T |
probably benign |
Het |
Inhbc |
A |
T |
10: 127,193,611 (GRCm39) |
M135K |
probably benign |
Het |
Mertk |
C |
A |
2: 128,580,167 (GRCm39) |
T207K |
probably damaging |
Het |
Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
Mtmr10 |
C |
T |
7: 63,983,187 (GRCm39) |
T498I |
probably damaging |
Het |
Muc17 |
A |
G |
5: 137,167,034 (GRCm39) |
|
probably null |
Het |
Nlrp1c-ps |
G |
T |
11: 71,170,421 (GRCm39) |
|
noncoding transcript |
Het |
Nphp4 |
T |
A |
4: 152,587,448 (GRCm39) |
I267N |
probably benign |
Het |
Obox8 |
A |
G |
7: 14,066,015 (GRCm39) |
W168R |
probably damaging |
Het |
Or2t48 |
A |
T |
11: 58,420,248 (GRCm39) |
V188E |
probably damaging |
Het |
Or4a74 |
A |
T |
2: 89,439,647 (GRCm39) |
D266E |
probably damaging |
Het |
Or8c8 |
T |
C |
9: 38,164,866 (GRCm39) |
L48P |
probably damaging |
Het |
Pafah1b1 |
A |
G |
11: 74,570,262 (GRCm39) |
|
probably benign |
Het |
Palld |
T |
C |
8: 62,173,622 (GRCm39) |
T346A |
probably damaging |
Het |
Pip4k2b |
A |
G |
11: 97,609,702 (GRCm39) |
S412P |
probably benign |
Het |
Potefam1 |
G |
A |
2: 110,994,674 (GRCm39) |
Q251* |
probably null |
Het |
Scn3a |
T |
C |
2: 65,338,862 (GRCm39) |
S606G |
probably benign |
Het |
Slc12a7 |
G |
T |
13: 73,953,552 (GRCm39) |
S754I |
probably benign |
Het |
Tep1 |
A |
G |
14: 51,081,736 (GRCm39) |
*489R |
probably null |
Het |
Tnn |
A |
T |
1: 159,950,464 (GRCm39) |
V714E |
probably damaging |
Het |
Trappc9 |
A |
T |
15: 72,930,242 (GRCm39) |
I38N |
probably damaging |
Het |
Ttc16 |
T |
A |
2: 32,653,009 (GRCm39) |
I550F |
probably benign |
Het |
Vit |
T |
C |
17: 78,932,575 (GRCm39) |
S561P |
probably damaging |
Het |
Zdhhc1 |
T |
A |
8: 106,210,268 (GRCm39) |
I50F |
probably benign |
Het |
Zfp451 |
C |
T |
1: 33,842,014 (GRCm39) |
|
probably benign |
Het |
Zfp597 |
G |
A |
16: 3,689,988 (GRCm39) |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCAATGCCCTGGACAGTGG -3'
(R):5'- TTGGGACATACACACGCCATC -3'
Sequencing Primer
(F):5'- CTCTGACTTCATTGAAGACGTG -3'
(R):5'- GCCATCACAACTGCTACAAAG -3'
|
Posted On |
2016-06-21 |