Incidental Mutation 'IGL01755:Or5w8'
ID |
153190 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or5w8
|
Ensembl Gene |
ENSMUSG00000047039 |
Gene Name |
olfactory receptor family 5 subfamily W member 8 |
Synonyms |
MOR177-9, Olfr1151, GA_x6K02T2Q125-49358694-49359620 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
IGL01755
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
87687521-87688447 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 87687854 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 112
(C112S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151107
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061081]
[ENSMUST00000217376]
|
AlphaFold |
Q8VFQ8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061081
AA Change: C112S
PolyPhen 2
Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000055394 Gene: ENSMUSG00000047039 AA Change: C112S
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
31 |
308 |
4.6e-45 |
PFAM |
Pfam:7tm_1
|
41 |
290 |
1.7e-15 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217376
AA Change: C112S
PolyPhen 2
Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atf6 |
A |
G |
1: 170,616,180 (GRCm39) |
I520T |
possibly damaging |
Het |
Azgp1 |
A |
T |
5: 137,988,109 (GRCm39) |
K297M |
possibly damaging |
Het |
Cyp2e1 |
A |
G |
7: 140,354,469 (GRCm39) |
|
probably null |
Het |
Dapk1 |
C |
A |
13: 60,908,989 (GRCm39) |
L1201M |
probably damaging |
Het |
Dapk1 |
T |
A |
13: 60,908,990 (GRCm39) |
L1201Q |
possibly damaging |
Het |
Insrr |
A |
T |
3: 87,721,493 (GRCm39) |
D1133V |
probably damaging |
Het |
Kcnc4 |
T |
C |
3: 107,355,491 (GRCm39) |
N319S |
probably damaging |
Het |
Kctd1 |
A |
G |
18: 15,195,694 (GRCm39) |
C310R |
possibly damaging |
Het |
Nefl |
A |
G |
14: 68,323,526 (GRCm39) |
D384G |
probably damaging |
Het |
Nfatc3 |
A |
G |
8: 106,854,553 (GRCm39) |
N1029S |
probably benign |
Het |
Nup107 |
T |
C |
10: 117,610,398 (GRCm39) |
Y348C |
probably damaging |
Het |
Or5b117 |
T |
C |
19: 13,431,179 (GRCm39) |
K234R |
probably damaging |
Het |
Phf8-ps |
T |
A |
17: 33,285,951 (GRCm39) |
N284Y |
probably damaging |
Het |
Phldb2 |
T |
C |
16: 45,645,945 (GRCm39) |
E212G |
probably damaging |
Het |
Pirb |
A |
T |
7: 3,720,169 (GRCm39) |
N401K |
probably benign |
Het |
Plcg2 |
T |
C |
8: 118,347,980 (GRCm39) |
F1183S |
possibly damaging |
Het |
Plekhf2 |
A |
T |
4: 10,991,308 (GRCm39) |
N11K |
probably damaging |
Het |
Slc7a11 |
A |
G |
3: 50,378,516 (GRCm39) |
Y241H |
probably benign |
Het |
Sltm |
T |
G |
9: 70,491,204 (GRCm39) |
|
probably null |
Het |
Taf4b |
A |
G |
18: 15,031,042 (GRCm39) |
T809A |
probably benign |
Het |
Taf4b |
C |
A |
18: 15,031,043 (GRCm39) |
T809N |
probably benign |
Het |
Tesk1 |
T |
C |
4: 43,445,820 (GRCm39) |
|
probably null |
Het |
Tspan8 |
C |
T |
10: 115,671,203 (GRCm39) |
T120M |
probably damaging |
Het |
Ttn |
T |
G |
2: 76,551,727 (GRCm39) |
D31275A |
probably damaging |
Het |
Vcl |
C |
A |
14: 21,046,038 (GRCm39) |
Q334K |
probably damaging |
Het |
Zfp94 |
G |
A |
7: 24,010,906 (GRCm39) |
|
probably benign |
Het |
Zkscan17 |
A |
G |
11: 59,378,241 (GRCm39) |
F314S |
probably damaging |
Het |
|
Other mutations in Or5w8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02314:Or5w8
|
APN |
2 |
87,688,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R0127:Or5w8
|
UTSW |
2 |
87,687,827 (GRCm39) |
missense |
probably benign |
|
R0233:Or5w8
|
UTSW |
2 |
87,688,096 (GRCm39) |
missense |
probably benign |
0.19 |
R0233:Or5w8
|
UTSW |
2 |
87,688,096 (GRCm39) |
missense |
probably benign |
0.19 |
R0398:Or5w8
|
UTSW |
2 |
87,688,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R1079:Or5w8
|
UTSW |
2 |
87,687,699 (GRCm39) |
missense |
probably damaging |
1.00 |
R1598:Or5w8
|
UTSW |
2 |
87,688,095 (GRCm39) |
missense |
probably benign |
0.01 |
R1965:Or5w8
|
UTSW |
2 |
87,687,759 (GRCm39) |
missense |
probably benign |
0.44 |
R3409:Or5w8
|
UTSW |
2 |
87,688,005 (GRCm39) |
nonsense |
probably null |
|
R4824:Or5w8
|
UTSW |
2 |
87,687,621 (GRCm39) |
missense |
probably benign |
0.24 |
R4962:Or5w8
|
UTSW |
2 |
87,687,632 (GRCm39) |
missense |
probably benign |
0.02 |
R4986:Or5w8
|
UTSW |
2 |
87,687,858 (GRCm39) |
missense |
probably damaging |
0.97 |
R5324:Or5w8
|
UTSW |
2 |
87,688,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R5934:Or5w8
|
UTSW |
2 |
87,687,585 (GRCm39) |
missense |
probably benign |
|
R6335:Or5w8
|
UTSW |
2 |
87,687,811 (GRCm39) |
nonsense |
probably null |
|
R6389:Or5w8
|
UTSW |
2 |
87,688,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R6958:Or5w8
|
UTSW |
2 |
87,688,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R7329:Or5w8
|
UTSW |
2 |
87,687,585 (GRCm39) |
missense |
probably benign |
|
R8228:Or5w8
|
UTSW |
2 |
87,688,284 (GRCm39) |
missense |
probably benign |
0.12 |
R8506:Or5w8
|
UTSW |
2 |
87,688,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R8726:Or5w8
|
UTSW |
2 |
87,688,161 (GRCm39) |
missense |
probably benign |
0.14 |
R8845:Or5w8
|
UTSW |
2 |
87,687,545 (GRCm39) |
missense |
probably benign |
0.00 |
R9548:Or5w8
|
UTSW |
2 |
87,688,040 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Or5w8
|
UTSW |
2 |
87,687,768 (GRCm39) |
missense |
probably benign |
0.13 |
|
Posted On |
2014-02-04 |