Incidental Mutation 'IGL03212:Or5d46'
| ID |
413326 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or5d46
|
| Ensembl Gene |
ENSMUSG00000050023 |
| Gene Name |
olfactory receptor family 5 subfamily D member 46 |
| Synonyms |
Olfr1176, MOR174-5, GA_x6K02T2Q125-49824309-49825256 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
IGL03212
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
88169911-88170858 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88170016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 36
(Y36N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057439]
[ENSMUST00000137895]
[ENSMUST00000213778]
[ENSMUST00000216713]
|
| AlphaFold |
Q8VG40 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057439
AA Change: Y36N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053353
Gene: ENSMUSG00000050023
AA Change: Y36N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
18 |
N/A |
INTRINSIC |
|
Pfam:7tm_4
|
32 |
309 |
5.3e-46 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
4.1e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137895
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213778
AA Change: Y36N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216713
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2 |
A |
G |
1: 59,242,085 (GRCm39) |
S657P |
probably benign |
Het |
| Atp2c1 |
T |
A |
9: 105,322,466 (GRCm39) |
N221I |
probably damaging |
Het |
| Atp5pd |
G |
T |
11: 115,306,597 (GRCm39) |
H155N |
probably damaging |
Het |
| Cd55b |
A |
T |
1: 130,339,179 (GRCm39) |
N316K |
probably benign |
Het |
| Celsr1 |
A |
T |
15: 85,814,878 (GRCm39) |
M1861K |
probably benign |
Het |
| Cfap69 |
T |
G |
5: 5,707,849 (GRCm39) |
|
probably null |
Het |
| Col7a1 |
C |
A |
9: 108,803,520 (GRCm39) |
P2169Q |
unknown |
Het |
| Cyp2j5 |
G |
T |
4: 96,552,055 (GRCm39) |
H65N |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,290,309 (GRCm39) |
V1233A |
probably benign |
Het |
| Fn1 |
A |
T |
1: 71,680,484 (GRCm39) |
L407* |
probably null |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,121 (GRCm39) |
D340G |
probably benign |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Glmp |
T |
C |
3: 88,235,664 (GRCm39) |
S317P |
probably benign |
Het |
| Gm5581 |
A |
T |
6: 131,158,413 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5624 |
A |
T |
14: 44,798,167 (GRCm39) |
N103K |
probably benign |
Het |
| Gprin3 |
A |
G |
6: 59,332,013 (GRCm39) |
F98S |
probably benign |
Het |
| Ighmbp2 |
A |
G |
19: 3,329,942 (GRCm39) |
V104A |
probably damaging |
Het |
| Igkv4-79 |
A |
C |
6: 69,020,214 (GRCm39) |
S34A |
probably benign |
Het |
| Igsf10 |
G |
A |
3: 59,235,586 (GRCm39) |
P1532S |
probably benign |
Het |
| Myt1l |
A |
G |
12: 29,877,819 (GRCm39) |
K490R |
unknown |
Het |
| Pira13 |
T |
A |
7: 3,826,132 (GRCm39) |
Q287L |
probably benign |
Het |
| Plxna1 |
T |
A |
6: 89,308,885 (GRCm39) |
T1198S |
probably damaging |
Het |
| Pramel6 |
A |
G |
2: 87,340,769 (GRCm39) |
D367G |
probably damaging |
Het |
| Rbm28 |
G |
T |
6: 29,131,274 (GRCm39) |
R10S |
probably damaging |
Het |
| Rdh10 |
T |
G |
1: 16,178,051 (GRCm39) |
C108G |
probably benign |
Het |
| Rfx7 |
C |
A |
9: 72,526,443 (GRCm39) |
T1211K |
probably benign |
Het |
| Slc24a5 |
C |
A |
2: 124,922,750 (GRCm39) |
T141N |
probably damaging |
Het |
| Smarca5 |
T |
A |
8: 81,438,410 (GRCm39) |
N642I |
possibly damaging |
Het |
| Smchd1 |
C |
A |
17: 71,750,886 (GRCm39) |
R344L |
probably damaging |
Het |
| Tmx3 |
T |
A |
18: 90,556,642 (GRCm39) |
I355N |
probably damaging |
Het |
| Tram1l1 |
G |
A |
3: 124,115,563 (GRCm39) |
G241D |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,137,074 (GRCm39) |
T982A |
probably benign |
Het |
| Vmn2r52 |
T |
G |
7: 9,893,474 (GRCm39) |
H555P |
possibly damaging |
Het |
| Zbtb43 |
A |
T |
2: 33,344,286 (GRCm39) |
M313K |
probably benign |
Het |
| Zfp942 |
A |
T |
17: 22,148,445 (GRCm39) |
Y61* |
probably null |
Het |
|
| Other mutations in Or5d46 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01736:Or5d46
|
APN |
2 |
88,170,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02166:Or5d46
|
APN |
2 |
88,170,022 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02340:Or5d46
|
APN |
2 |
88,169,906 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02598:Or5d46
|
APN |
2 |
88,170,595 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL03069:Or5d46
|
APN |
2 |
88,170,643 (GRCm39) |
splice site |
probably null |
|
|
R1959:Or5d46
|
UTSW |
2 |
88,170,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1960:Or5d46
|
UTSW |
2 |
88,170,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2907:Or5d46
|
UTSW |
2 |
88,170,827 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2908:Or5d46
|
UTSW |
2 |
88,170,827 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4049:Or5d46
|
UTSW |
2 |
88,174,144 (GRCm39) |
splice site |
probably null |
|
|
R4257:Or5d46
|
UTSW |
2 |
88,170,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4823:Or5d46
|
UTSW |
2 |
88,170,179 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4897:Or5d46
|
UTSW |
2 |
88,174,686 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5106:Or5d46
|
UTSW |
2 |
88,170,454 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5192:Or5d46
|
UTSW |
2 |
88,170,092 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5196:Or5d46
|
UTSW |
2 |
88,170,092 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5331:Or5d46
|
UTSW |
2 |
88,170,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Or5d46
|
UTSW |
2 |
88,170,757 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6283:Or5d46
|
UTSW |
2 |
88,170,002 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6702:Or5d46
|
UTSW |
2 |
88,170,586 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8155:Or5d46
|
UTSW |
2 |
88,170,296 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8904:Or5d46
|
UTSW |
2 |
88,169,949 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9094:Or5d46
|
UTSW |
2 |
88,170,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9443:Or5d46
|
UTSW |
2 |
88,170,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9598:Or5d46
|
UTSW |
2 |
88,170,821 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9719:Or5d46
|
UTSW |
2 |
88,169,928 (GRCm39) |
missense |
|
|
|
| Posted On |
2016-08-02 |
Incidental Mutation