Incidental Mutation 'IGL01666:Or6d15'
ID |
103308 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or6d15
|
Ensembl Gene |
ENSMUSG00000050654 |
Gene Name |
olfactory receptor family 6 subfamily D member 15 |
Synonyms |
GA_x54KRFPKN04-58217732-58216800, MOR119-2, Olfr215 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
IGL01666
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
116558973-116559905 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 116559296 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 204
(I204F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052425
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061723]
|
AlphaFold |
Q8VF82 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061723
AA Change: I204F
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000052425 Gene: ENSMUSG00000050654 AA Change: I204F
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
29 |
306 |
5e-47 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
33 |
258 |
1.8e-5 |
PFAM |
Pfam:7tm_1
|
39 |
288 |
2.9e-15 |
PFAM |
|
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
C |
A |
1: 25,499,832 (GRCm39) |
A664S |
probably damaging |
Het |
Ankrd61 |
T |
A |
5: 143,827,954 (GRCm39) |
L297F |
probably damaging |
Het |
Chrnd |
A |
T |
1: 87,126,458 (GRCm39) |
S513C |
possibly damaging |
Het |
Col24a1 |
G |
A |
3: 145,050,447 (GRCm39) |
V645M |
possibly damaging |
Het |
Csn3 |
T |
C |
5: 88,078,016 (GRCm39) |
V174A |
unknown |
Het |
D630039A03Rik |
C |
T |
4: 57,910,570 (GRCm39) |
V81I |
possibly damaging |
Het |
Deptor |
G |
A |
15: 55,012,775 (GRCm39) |
R54Q |
probably damaging |
Het |
Ell |
A |
G |
8: 71,038,463 (GRCm39) |
H400R |
probably benign |
Het |
Fcgbpl1 |
G |
A |
7: 27,852,717 (GRCm39) |
V1335M |
probably damaging |
Het |
Itga2 |
A |
G |
13: 114,973,627 (GRCm39) |
|
probably null |
Het |
Itpr3 |
A |
G |
17: 27,336,152 (GRCm39) |
I2293V |
probably benign |
Het |
Matcap2 |
A |
G |
9: 22,342,994 (GRCm39) |
D163G |
probably benign |
Het |
Mmut |
T |
C |
17: 41,269,702 (GRCm39) |
L687P |
probably damaging |
Het |
Mrps27 |
A |
G |
13: 99,546,324 (GRCm39) |
E241G |
probably damaging |
Het |
Myh9 |
C |
T |
15: 77,646,131 (GRCm39) |
A1951T |
probably benign |
Het |
Oca2 |
G |
A |
7: 55,964,559 (GRCm39) |
|
probably null |
Het |
Or2n1c |
C |
T |
17: 38,519,780 (GRCm39) |
L215F |
probably benign |
Het |
Ptgdr2 |
T |
C |
19: 10,918,274 (GRCm39) |
F264L |
probably benign |
Het |
Ptpn23 |
T |
C |
9: 110,215,613 (GRCm39) |
T1384A |
possibly damaging |
Het |
Rasgrf2 |
A |
T |
13: 92,174,718 (GRCm39) |
D170E |
probably damaging |
Het |
Rnf20 |
C |
T |
4: 49,654,486 (GRCm39) |
Q848* |
probably null |
Het |
|
Other mutations in Or6d15 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02959:Or6d15
|
APN |
6 |
116,559,505 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03053:Or6d15
|
APN |
6 |
116,559,206 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0078:Or6d15
|
UTSW |
6 |
116,559,701 (GRCm39) |
missense |
probably damaging |
0.96 |
R0277:Or6d15
|
UTSW |
6 |
116,559,562 (GRCm39) |
missense |
probably damaging |
0.99 |
R0323:Or6d15
|
UTSW |
6 |
116,559,562 (GRCm39) |
missense |
probably damaging |
0.99 |
R0399:Or6d15
|
UTSW |
6 |
116,559,742 (GRCm39) |
missense |
probably benign |
0.00 |
R0545:Or6d15
|
UTSW |
6 |
116,559,617 (GRCm39) |
missense |
probably benign |
0.01 |
R1213:Or6d15
|
UTSW |
6 |
116,559,827 (GRCm39) |
missense |
probably benign |
0.00 |
R1775:Or6d15
|
UTSW |
6 |
116,559,925 (GRCm39) |
start gained |
probably benign |
|
R1789:Or6d15
|
UTSW |
6 |
116,559,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R4724:Or6d15
|
UTSW |
6 |
116,559,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R5391:Or6d15
|
UTSW |
6 |
116,559,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R5392:Or6d15
|
UTSW |
6 |
116,559,379 (GRCm39) |
missense |
probably damaging |
1.00 |
R5686:Or6d15
|
UTSW |
6 |
116,559,890 (GRCm39) |
missense |
probably benign |
0.00 |
R6124:Or6d15
|
UTSW |
6 |
116,559,446 (GRCm39) |
missense |
probably benign |
0.05 |
R7080:Or6d15
|
UTSW |
6 |
116,559,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R7355:Or6d15
|
UTSW |
6 |
116,559,916 (GRCm39) |
start gained |
probably benign |
|
R9084:Or6d15
|
UTSW |
6 |
116,559,232 (GRCm39) |
missense |
probably benign |
0.03 |
Z1177:Or6d15
|
UTSW |
6 |
116,559,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2014-01-21 |