Incidental Mutation 'IGL01829:Or9s23'
| ID |
154719 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or9s23
|
| Ensembl Gene |
ENSMUSG00000058904 |
| Gene Name |
olfactory receptor family 9 subfamily S member 23 |
| Synonyms |
MOR208-1, Olfr1413, GA_x6K02T2R7CC-81180849-81179878 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01829
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
92500847-92501928 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 92501051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 53
(I53F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074859]
[ENSMUST00000214239]
|
| AlphaFold |
Q8VGU3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074859
AA Change: I53F
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000074402
Gene: ENSMUSG00000058904
AA Change: I53F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
27 |
N/A |
INTRINSIC |
|
Pfam:7tm_4
|
38 |
314 |
2.3e-50 |
PFAM |
|
Pfam:7tm_1
|
48 |
297 |
2.7e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181755
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185802
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214239
AA Change: I53F
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bod1l |
A |
G |
5: 41,977,811 (GRCm39) |
S1168P |
probably benign |
Het |
| Csn1s2a |
A |
T |
5: 87,934,569 (GRCm39) |
T173S |
unknown |
Het |
| Dchs1 |
T |
A |
7: 105,404,604 (GRCm39) |
D2646V |
probably damaging |
Het |
| Dennd4a |
C |
T |
9: 64,749,843 (GRCm39) |
R145* |
probably null |
Het |
| Dnah7a |
G |
T |
1: 53,657,227 (GRCm39) |
R850S |
possibly damaging |
Het |
| Dock2 |
T |
C |
11: 34,596,668 (GRCm39) |
D396G |
probably damaging |
Het |
| E2f7 |
A |
G |
10: 110,614,955 (GRCm39) |
Y553C |
probably benign |
Het |
| Elf2 |
A |
G |
3: 51,215,521 (GRCm39) |
M63T |
probably damaging |
Het |
| Hydin |
A |
C |
8: 111,316,154 (GRCm39) |
T4349P |
possibly damaging |
Het |
| Kcnk13 |
T |
A |
12: 100,027,257 (GRCm39) |
|
probably benign |
Het |
| Nr1h5 |
T |
A |
3: 102,856,395 (GRCm39) |
I295L |
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,449,383 (GRCm39) |
H986R |
probably damaging |
Het |
| Rufy1 |
T |
A |
11: 50,307,071 (GRCm39) |
R300* |
probably null |
Het |
| Sfxn4 |
C |
A |
19: 60,847,172 (GRCm39) |
S37I |
probably damaging |
Het |
| Slc12a9 |
A |
T |
5: 137,325,627 (GRCm39) |
|
probably benign |
Het |
| Slc37a1 |
T |
C |
17: 31,541,180 (GRCm39) |
I224T |
possibly damaging |
Het |
| Slc6a6 |
T |
C |
6: 91,712,170 (GRCm39) |
F233S |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,536,927 (GRCm39) |
K4233E |
possibly damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,046,377 (GRCm39) |
M1141K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,612,011 (GRCm39) |
D17297G |
probably damaging |
Het |
| Vmn1r12 |
T |
C |
6: 57,136,649 (GRCm39) |
Y205H |
probably damaging |
Het |
| Vmn1r77 |
A |
G |
7: 11,775,358 (GRCm39) |
K45E |
probably damaging |
Het |
| Vmn2r129 |
T |
C |
4: 156,685,614 (GRCm39) |
|
noncoding transcript |
Het |
| Vps13a |
T |
C |
19: 16,596,807 (GRCm39) |
T3104A |
probably benign |
Het |
|
| Other mutations in Or9s23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01516:Or9s23
|
APN |
1 |
92,501,165 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02160:Or9s23
|
APN |
1 |
92,501,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02535:Or9s23
|
APN |
1 |
92,500,943 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03304:Or9s23
|
APN |
1 |
92,501,025 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0001:Or9s23
|
UTSW |
1 |
92,501,183 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0033:Or9s23
|
UTSW |
1 |
92,500,982 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2027:Or9s23
|
UTSW |
1 |
92,501,489 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2152:Or9s23
|
UTSW |
1 |
92,501,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2174:Or9s23
|
UTSW |
1 |
92,501,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3407:Or9s23
|
UTSW |
1 |
92,501,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3408:Or9s23
|
UTSW |
1 |
92,501,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3951:Or9s23
|
UTSW |
1 |
92,501,511 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4687:Or9s23
|
UTSW |
1 |
92,501,052 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4793:Or9s23
|
UTSW |
1 |
92,501,207 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5069:Or9s23
|
UTSW |
1 |
92,501,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5070:Or9s23
|
UTSW |
1 |
92,501,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5160:Or9s23
|
UTSW |
1 |
92,501,544 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5411:Or9s23
|
UTSW |
1 |
92,501,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7487:Or9s23
|
UTSW |
1 |
92,501,517 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7677:Or9s23
|
UTSW |
1 |
92,500,983 (GRCm39) |
missense |
not run |
|
|
R7832:Or9s23
|
UTSW |
1 |
92,501,219 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7860:Or9s23
|
UTSW |
1 |
92,501,810 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7984:Or9s23
|
UTSW |
1 |
92,501,144 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8460:Or9s23
|
UTSW |
1 |
92,501,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8734:Or9s23
|
UTSW |
1 |
92,501,121 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2014-02-04 |
Incidental Mutation