Incidental Mutation 'B5639:Or5k17'
| ID |
543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5k17
|
| Ensembl Gene |
ENSMUSG00000090951 |
| Gene Name |
olfactory receptor family 5 subfamily K member 17 |
| Synonyms |
Olfr181, MOR184-4, GA_x54KRFPKG5P-55145984-55145034 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
B5639
of strain
3d
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
58745920-58749007 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58746889 bp (GRCm39)
|
| Zygosity |
Homozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 15
(I15K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075361]
[ENSMUST00000205668]
[ENSMUST00000205742]
[ENSMUST00000205986]
[ENSMUST00000206168]
|
| AlphaFold |
Q8VGQ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075361
AA Change: I15K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000074825
Gene: ENSMUSG00000090951
AA Change: I15K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
305 |
5.7e-52 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
308 |
6.1e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
308 |
3.3e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205668
AA Change: I15K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205742
AA Change: I15K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205986
AA Change: I15K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206168
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214942
|
| Meta Mutation Damage Score |
0.1346 |
| Coding Region Coverage |
|
| Het Detection Efficiency |
55.9% |
| Validation Efficiency |
83% (206/248) |
| 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 |
All alleles(1) : Gene trapped(1)
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Dnmt1 |
G |
A |
9: 20,819,264 (GRCm39) |
|
probably benign |
Het |
| Eno1 |
A |
G |
4: 150,329,569 (GRCm39) |
|
probably benign |
Het |
| Ercc8 |
G |
A |
13: 108,297,257 (GRCm39) |
G56R |
probably damaging |
Homo |
| Fam237b |
C |
T |
5: 5,624,060 (GRCm39) |
|
probably benign |
Homo |
| Idh1 |
A |
G |
1: 65,204,257 (GRCm39) |
|
probably null |
Homo |
| Incenp |
G |
A |
19: 9,871,182 (GRCm39) |
T149I |
unknown |
Het |
| Or5d16 |
G |
A |
2: 87,773,942 (GRCm39) |
S10F |
probably benign |
Het |
| Pdk2 |
T |
C |
11: 94,923,324 (GRCm39) |
D100G |
possibly damaging |
Homo |
| Prss56 |
T |
C |
1: 87,114,892 (GRCm39) |
L465P |
probably benign |
Homo |
| Slc10a3 |
G |
A |
X: 73,413,145 (GRCm39) |
P416L |
probably damaging |
Homo |
| Syne2 |
C |
A |
12: 75,976,564 (GRCm39) |
T1243K |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,619,947 (GRCm39) |
Y1542H |
probably damaging |
Homo |
| Zc3h13 |
G |
A |
14: 75,553,479 (GRCm39) |
R302Q |
probably damaging |
Het |
| Zfhx4 |
G |
T |
3: 5,468,235 (GRCm39) |
G2798W |
probably damaging |
Homo |
| Zfp667 |
A |
G |
7: 6,293,544 (GRCm39) |
T15A |
probably damaging |
Het |
|
| Other mutations in Or5k17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01845:Or5k17
|
APN |
16 |
58,746,929 (GRCm39) |
missense |
probably benign |
|
|
IGL02477:Or5k17
|
APN |
16 |
58,746,126 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02545:Or5k17
|
APN |
16 |
58,746,833 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02690:Or5k17
|
APN |
16 |
58,746,214 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02718:Or5k17
|
APN |
16 |
58,746,459 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02945:Or5k17
|
APN |
16 |
58,746,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03349:Or5k17
|
APN |
16 |
58,746,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0550:Or5k17
|
UTSW |
16 |
58,746,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0659:Or5k17
|
UTSW |
16 |
58,746,772 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1433:Or5k17
|
UTSW |
16 |
58,746,049 (GRCm39) |
missense |
probably benign |
|
|
R1957:Or5k17
|
UTSW |
16 |
58,746,530 (GRCm39) |
missense |
probably benign |
|
|
R2155:Or5k17
|
UTSW |
16 |
58,746,486 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2404:Or5k17
|
UTSW |
16 |
58,745,998 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2568:Or5k17
|
UTSW |
16 |
58,746,286 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4022:Or5k17
|
UTSW |
16 |
58,746,483 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4592:Or5k17
|
UTSW |
16 |
58,746,455 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4673:Or5k17
|
UTSW |
16 |
58,746,053 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4880:Or5k17
|
UTSW |
16 |
58,746,463 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5109:Or5k17
|
UTSW |
16 |
58,746,422 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5231:Or5k17
|
UTSW |
16 |
58,746,077 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5291:Or5k17
|
UTSW |
16 |
58,746,764 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5477:Or5k17
|
UTSW |
16 |
58,746,393 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5524:Or5k17
|
UTSW |
16 |
58,746,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5809:Or5k17
|
UTSW |
16 |
58,746,860 (GRCm39) |
missense |
probably benign |
|
|
R5830:Or5k17
|
UTSW |
16 |
58,746,457 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6119:Or5k17
|
UTSW |
16 |
58,746,895 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6217:Or5k17
|
UTSW |
16 |
58,746,877 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6861:Or5k17
|
UTSW |
16 |
58,746,867 (GRCm39) |
missense |
probably benign |
|
|
R6939:Or5k17
|
UTSW |
16 |
58,746,648 (GRCm39) |
nonsense |
probably null |
|
|
R7376:Or5k17
|
UTSW |
16 |
58,746,121 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7650:Or5k17
|
UTSW |
16 |
58,746,416 (GRCm39) |
nonsense |
probably null |
|
|
R8153:Or5k17
|
UTSW |
16 |
58,746,149 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8947:Or5k17
|
UTSW |
16 |
58,746,433 (GRCm39) |
missense |
probably benign |
|
|
R9205:Or5k17
|
UTSW |
16 |
58,746,486 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9205:Or5k17
|
UTSW |
16 |
58,746,485 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9318:Or5k17
|
UTSW |
16 |
58,746,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9654:Or5k17
|
UTSW |
16 |
58,746,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9678:Or5k17
|
UTSW |
16 |
58,746,640 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Nature of Mutation |
DNA sequencing using the SOLiD technique identified a T to A transversion at position 422 of the Olfr181 transcript, in exon 2 of 2 total exons. The mutation causes an isoleucine to lysine change at amino acid 15 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (see trace files for B5639).
|
| Protein Function and Prediction |
The 317 amino acid olfactory receptor 181 (Olfr181) is a potential odorant receptor belonging to the seven transmembrane G-protein coupled receptor family (Uniprot Q8VGQ7). Its N and C termini are positioned extracellularly and intracellularly, respectively.
The mutation lies in the extracellular N-terminal segment of the protein, and is predicted to be benign by the PolyPhen-2 program.
|
| Posted On |
2010-11-23 |
Incidental Mutation