Incidental Mutation 'R1338:Or9s18'
| ID |
156949 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or9s18
|
| Ensembl Gene |
ENSMUSG00000049806 |
| Gene Name |
olfactory receptor family 9 subfamily S member 18 |
| Synonyms |
GA_x6K02T2PB7A-3051266-3052192, Olfr466, MOR209-1 |
| MMRRC Submission |
039403-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R1338 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
65300040-65300966 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65300197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 53
(L53P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058907]
[ENSMUST00000214214]
|
| AlphaFold |
E9Q2B9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058907
AA Change: L53P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062692
Gene: ENSMUSG00000049806
AA Change: L53P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
305 |
2.8e-47 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
3.2e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214214
AA Change: L53P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.7%
- 20x: 88.5%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap12 |
G |
T |
10: 4,263,773 (GRCm39) |
V61F |
possibly damaging |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Ap4e1 |
T |
A |
2: 126,888,829 (GRCm39) |
D459E |
probably damaging |
Het |
| Bltp1 |
C |
T |
3: 37,106,684 (GRCm39) |
H5005Y |
unknown |
Het |
| Brdt |
C |
A |
5: 107,498,054 (GRCm39) |
P243Q |
probably benign |
Het |
| C5ar1 |
A |
C |
7: 15,982,260 (GRCm39) |
F253L |
probably damaging |
Het |
| Cep104 |
T |
G |
4: 154,078,965 (GRCm39) |
V323G |
probably benign |
Het |
| Col11a1 |
A |
T |
3: 114,010,644 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,836,387 (GRCm39) |
Y4039F |
probably benign |
Het |
| Lmcd1 |
A |
C |
6: 112,282,089 (GRCm39) |
H41P |
probably damaging |
Het |
| P2ry13 |
T |
C |
3: 59,117,710 (GRCm39) |
T23A |
probably benign |
Het |
| Pcdhb14 |
A |
T |
18: 37,582,943 (GRCm39) |
E683V |
probably benign |
Het |
| Pck1 |
G |
A |
2: 173,000,203 (GRCm39) |
E545K |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,390,120 (GRCm39) |
V1412A |
probably damaging |
Het |
| Rnf139 |
T |
C |
15: 58,771,064 (GRCm39) |
V363A |
probably damaging |
Het |
| Serpinh1 |
A |
G |
7: 98,998,118 (GRCm39) |
S171P |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,870,158 (GRCm39) |
K600R |
possibly damaging |
Het |
| Slc7a1 |
C |
T |
5: 148,282,746 (GRCm39) |
E34K |
probably damaging |
Het |
| Spata31d1b |
AGGG |
AGG |
13: 59,865,975 (GRCm39) |
|
probably null |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Ttc6 |
A |
T |
12: 57,663,155 (GRCm39) |
N317I |
probably benign |
Het |
| Zan |
A |
T |
5: 137,391,913 (GRCm39) |
C4627* |
probably null |
Het |
| Zfhx4 |
T |
C |
3: 5,462,021 (GRCm39) |
V1232A |
possibly damaging |
Het |
|
| Other mutations in Or9s18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02684:Or9s18
|
APN |
13 |
65,300,210 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0269:Or9s18
|
UTSW |
13 |
65,300,692 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0617:Or9s18
|
UTSW |
13 |
65,300,692 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0646:Or9s18
|
UTSW |
13 |
65,300,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1893:Or9s18
|
UTSW |
13 |
65,300,806 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3108:Or9s18
|
UTSW |
13 |
65,300,875 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4408:Or9s18
|
UTSW |
13 |
65,300,514 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4625:Or9s18
|
UTSW |
13 |
65,300,674 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4732:Or9s18
|
UTSW |
13 |
65,300,467 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4733:Or9s18
|
UTSW |
13 |
65,300,467 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4849:Or9s18
|
UTSW |
13 |
65,300,493 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5058:Or9s18
|
UTSW |
13 |
65,300,743 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5419:Or9s18
|
UTSW |
13 |
65,300,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5569:Or9s18
|
UTSW |
13 |
65,300,793 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5662:Or9s18
|
UTSW |
13 |
65,300,067 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7292:Or9s18
|
UTSW |
13 |
65,300,656 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7345:Or9s18
|
UTSW |
13 |
65,300,557 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7427:Or9s18
|
UTSW |
13 |
65,300,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7428:Or9s18
|
UTSW |
13 |
65,300,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8162:Or9s18
|
UTSW |
13 |
65,300,734 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8736:Or9s18
|
UTSW |
13 |
65,300,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9224:Or9s18
|
UTSW |
13 |
65,300,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9607:Or9s18
|
UTSW |
13 |
65,300,885 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9739:Or9s18
|
UTSW |
13 |
65,300,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCATATGGAACACAGTAGACCAATG -3'
(R):5'- AGACCCAGTGGGACATACTCACAG -3'
Sequencing Primer
(F):5'- ACACAGTAGACCAATGTTATAAACAG -3'
(R):5'- GCCAGGAGAAATGCTTCTGTG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation