Incidental Mutation 'IGL02485:Olfr1513'
| ID |
295396 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Olfr1513
|
| Ensembl Gene |
ENSMUSG00000095030 |
| Gene Name |
olfactory receptor 1513 |
| Synonyms |
MOR223-10, GA_x6K02T2RJGY-644134-645075, MOR223-7P |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL02485
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
52347495-52356408 bp(-) (GRCm38) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 52350044 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089739]
[ENSMUST00000215147]
|
| AlphaFold |
L7N457 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089739
AA Change: M1L
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000087171
Gene: ENSMUSG00000095030
AA Change: M1L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
5.2e-49 |
PFAM |
|
Pfam:7tm_1
|
41 |
291 |
1.6e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215147
AA Change: M1L
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930430A15Rik |
A |
T |
2: 111,228,325 (GRCm38) |
V94E |
probably damaging |
Het |
| Agl |
A |
G |
3: 116,779,080 (GRCm38) |
S841P |
probably benign |
Het |
| BC003331 |
A |
G |
1: 150,363,489 (GRCm38) |
|
probably null |
Het |
| Cd59b |
A |
C |
2: 104,081,104 (GRCm38) |
|
probably benign |
Het |
| Dopey2 |
T |
C |
16: 93,770,822 (GRCm38) |
L1379P |
probably damaging |
Het |
| Ercc2 |
G |
A |
7: 19,394,045 (GRCm38) |
A433T |
possibly damaging |
Het |
| Gm17175 |
T |
C |
14: 51,569,611 (GRCm38) |
|
probably benign |
Het |
| Gm5150 |
A |
T |
3: 15,990,752 (GRCm38) |
I103N |
probably damaging |
Het |
| Igf1 |
A |
G |
10: 87,864,746 (GRCm38) |
M11V |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,893,368 (GRCm38) |
N299S |
unknown |
Het |
| Maneal |
A |
T |
4: 124,856,770 (GRCm38) |
S398T |
probably damaging |
Het |
| Map1a |
A |
G |
2: 121,299,288 (GRCm38) |
N195S |
probably damaging |
Het |
| Mars2 |
T |
C |
1: 55,237,591 (GRCm38) |
F118L |
possibly damaging |
Het |
| Mast4 |
A |
G |
13: 102,735,496 (GRCm38) |
S2263P |
probably benign |
Het |
| Mrgprb1 |
C |
A |
7: 48,447,717 (GRCm38) |
R149L |
possibly damaging |
Het |
| Myo1d |
T |
C |
11: 80,666,581 (GRCm38) |
D511G |
probably damaging |
Het |
| Ntan1 |
T |
C |
16: 13,834,676 (GRCm38) |
|
probably benign |
Het |
| Nxf2 |
A |
G |
X: 134,956,467 (GRCm38) |
F158L |
probably damaging |
Het |
| Trpm1 |
C |
T |
7: 64,269,114 (GRCm38) |
A734V |
possibly damaging |
Het |
| Upf2 |
G |
A |
2: 6,027,291 (GRCm38) |
E883K |
unknown |
Het |
| Ush1c |
T |
C |
7: 46,229,250 (GRCm38) |
I83V |
probably damaging |
Het |
| Vmn2r60 |
C |
A |
7: 42,195,466 (GRCm38) |
T751N |
possibly damaging |
Het |
| Zfp146 |
A |
G |
7: 30,162,590 (GRCm38) |
I9T |
probably benign |
Het |
| Zfp592 |
G |
A |
7: 81,037,970 (GRCm38) |
|
probably benign |
Het |
| Zswim8 |
C |
T |
14: 20,711,887 (GRCm38) |
L243F |
probably damaging |
Het |
|
| Other mutations in Olfr1513 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00309:Olfr1513
|
APN |
14 |
52,349,710 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02828:Olfr1513
|
APN |
14 |
52,349,342 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0744:Olfr1513
|
UTSW |
14 |
52,349,378 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0833:Olfr1513
|
UTSW |
14 |
52,349,378 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2316:Olfr1513
|
UTSW |
14 |
52,349,938 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4898:Olfr1513
|
UTSW |
14 |
52,349,542 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5018:Olfr1513
|
UTSW |
14 |
52,349,279 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R5134:Olfr1513
|
UTSW |
14 |
52,349,791 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5485:Olfr1513
|
UTSW |
14 |
52,349,319 (GRCm38) |
nonsense |
probably null |
|
|
R6819:Olfr1513
|
UTSW |
14 |
52,349,699 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6877:Olfr1513
|
UTSW |
14 |
52,349,813 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7583:Olfr1513
|
UTSW |
14 |
52,349,903 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7606:Olfr1513
|
UTSW |
14 |
52,349,963 (GRCm38) |
missense |
probably benign |
0.33 |
|
R7653:Olfr1513
|
UTSW |
14 |
52,349,432 (GRCm38) |
nonsense |
probably null |
|
|
R8111:Olfr1513
|
UTSW |
14 |
52,349,887 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R8262:Olfr1513
|
UTSW |
14 |
52,349,168 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8487:Olfr1513
|
UTSW |
14 |
52,349,239 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8786:Olfr1513
|
UTSW |
14 |
52,349,564 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R9003:Olfr1513
|
UTSW |
14 |
52,349,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9507:Olfr1513
|
UTSW |
14 |
52,349,221 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation