Incidental Mutation 'IGL03078:Or51f1d'
| ID |
417749 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or51f1d
|
| Ensembl Gene |
ENSMUSG00000073960 |
| Gene Name |
olfactory receptor family 51 subfamily F member 1D |
| Synonyms |
Olfr583, GA_x6K02T2PBJ9-5762668-5763618, MOR14-6 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
IGL03078
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
102700507-102701466 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102701036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 177
(F177S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095812
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098211]
|
| AlphaFold |
Q8VG25 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098211
AA Change: F177S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095812
Gene: ENSMUSG00000073960
AA Change: F177S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
40 |
319 |
9.1e-107 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
45 |
316 |
1.4e-5 |
PFAM |
|
Pfam:7tm_1
|
50 |
301 |
9.6e-20 |
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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,167,371 (GRCm39) |
K1482* |
probably null |
Het |
| Abtb3 |
C |
T |
10: 85,468,027 (GRCm39) |
A774V |
probably damaging |
Het |
| Adam15 |
A |
G |
3: 89,253,244 (GRCm39) |
|
probably benign |
Het |
| Adamdec1 |
C |
T |
14: 68,806,299 (GRCm39) |
R392H |
possibly damaging |
Het |
| Anxa7 |
T |
C |
14: 20,506,624 (GRCm39) |
K439E |
probably damaging |
Het |
| Arap2 |
T |
A |
5: 62,890,408 (GRCm39) |
|
probably benign |
Het |
| Asic5 |
A |
G |
3: 81,921,735 (GRCm39) |
E367G |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,291,905 (GRCm39) |
T3307A |
possibly damaging |
Het |
| Dnd1 |
T |
C |
18: 36,899,197 (GRCm39) |
E8G |
probably damaging |
Het |
| Eif2ak1 |
T |
C |
5: 143,810,587 (GRCm39) |
I99T |
probably benign |
Het |
| Fras1 |
C |
T |
5: 96,783,994 (GRCm39) |
R833C |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,849,019 (GRCm39) |
S362P |
probably damaging |
Het |
| Hs3st4 |
A |
G |
7: 123,996,669 (GRCm39) |
E445G |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 192,117,108 (GRCm39) |
T21A |
probably damaging |
Het |
| Kif26b |
G |
A |
1: 178,698,291 (GRCm39) |
R594H |
probably damaging |
Het |
| Lsm14b |
T |
C |
2: 179,668,521 (GRCm39) |
I74T |
probably damaging |
Het |
| Myh2 |
T |
A |
11: 67,081,256 (GRCm39) |
S1291T |
probably benign |
Het |
| Myo3b |
T |
A |
2: 70,117,335 (GRCm39) |
F923I |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,969,624 (GRCm39) |
|
probably null |
Het |
| Or8b53 |
C |
T |
9: 38,667,541 (GRCm39) |
Q186* |
probably null |
Het |
| Piezo2 |
A |
C |
18: 63,203,146 (GRCm39) |
M1484R |
probably damaging |
Het |
| Rhoh |
T |
A |
5: 66,050,231 (GRCm39) |
V167D |
probably damaging |
Het |
| Rspo3 |
T |
C |
10: 29,380,657 (GRCm39) |
Y119C |
probably damaging |
Het |
| Scpep1 |
T |
A |
11: 88,826,657 (GRCm39) |
I260F |
possibly damaging |
Het |
| Slc15a3 |
T |
A |
19: 10,834,609 (GRCm39) |
F497I |
probably damaging |
Het |
| Stom |
T |
C |
2: 35,205,941 (GRCm39) |
K263E |
probably damaging |
Het |
| Taf4b |
C |
A |
18: 14,946,611 (GRCm39) |
A478E |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,600,594 (GRCm39) |
|
probably benign |
Het |
| Wdr95 |
C |
T |
5: 149,535,062 (GRCm39) |
A598V |
possibly damaging |
Het |
|
| Other mutations in Or51f1d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02172:Or51f1d
|
APN |
7 |
102,700,582 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02200:Or51f1d
|
APN |
7 |
102,701,000 (GRCm39) |
missense |
probably benign |
|
|
IGL02412:Or51f1d
|
APN |
7 |
102,701,359 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02452:Or51f1d
|
APN |
7 |
102,701,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02859:Or51f1d
|
APN |
7 |
102,701,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0675:Or51f1d
|
UTSW |
7 |
102,700,909 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1474:Or51f1d
|
UTSW |
7 |
102,701,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1531:Or51f1d
|
UTSW |
7 |
102,700,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1535:Or51f1d
|
UTSW |
7 |
102,700,576 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1777:Or51f1d
|
UTSW |
7 |
102,700,583 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1883:Or51f1d
|
UTSW |
7 |
102,701,189 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1884:Or51f1d
|
UTSW |
7 |
102,701,189 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2265:Or51f1d
|
UTSW |
7 |
102,701,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2267:Or51f1d
|
UTSW |
7 |
102,701,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2269:Or51f1d
|
UTSW |
7 |
102,701,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2299:Or51f1d
|
UTSW |
7 |
102,700,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3802:Or51f1d
|
UTSW |
7 |
102,701,372 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4239:Or51f1d
|
UTSW |
7 |
102,701,003 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4426:Or51f1d
|
UTSW |
7 |
102,701,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5335:Or51f1d
|
UTSW |
7 |
102,700,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6048:Or51f1d
|
UTSW |
7 |
102,700,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6270:Or51f1d
|
UTSW |
7 |
102,700,538 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6837:Or51f1d
|
UTSW |
7 |
102,700,929 (GRCm39) |
nonsense |
probably null |
|
|
R7257:Or51f1d
|
UTSW |
7 |
102,700,837 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8506:Or51f1d
|
UTSW |
7 |
102,700,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8947:Or51f1d
|
UTSW |
7 |
102,701,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9638:Or51f1d
|
UTSW |
7 |
102,701,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation