Incidental Mutation 'IGL00937:Or2a5'
| ID |
27638 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or2a5
|
| Ensembl Gene |
ENSMUSG00000043119 |
| Gene Name |
olfactory receptor family 2 subfamily A member 5 |
| Synonyms |
Olfr448, MOR261-13, GA_x6K02T2P3E9-4663051-4662119 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
IGL00937
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
42873387-42874319 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 42873568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 61
(F61Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058668]
[ENSMUST00000213952]
[ENSMUST00000214529]
|
| AlphaFold |
Q8VES9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058668
AA Change: F61Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000059195
Gene: ENSMUSG00000043119
AA Change: F61Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
307 |
1.8e-61 |
PFAM |
|
Pfam:7tm_1
|
40 |
289 |
5.3e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213952
AA Change: F61Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214529
AA Change: F61Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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 |
|---|
| Cc2d2a |
A |
T |
5: 43,845,464 (GRCm39) |
|
probably null |
Het |
| Cd34 |
A |
G |
1: 194,642,422 (GRCm39) |
E381G |
probably damaging |
Het |
| Chka |
A |
G |
19: 3,942,189 (GRCm39) |
E381G |
probably benign |
Het |
| Dennd1b |
T |
A |
1: 139,097,977 (GRCm39) |
C673S |
probably benign |
Het |
| E130308A19Rik |
G |
A |
4: 59,690,846 (GRCm39) |
A227T |
probably benign |
Het |
| F13b |
T |
A |
1: 139,445,098 (GRCm39) |
|
probably benign |
Het |
| Hipk3 |
T |
C |
2: 104,263,517 (GRCm39) |
N933D |
possibly damaging |
Het |
| Mmp27 |
T |
C |
9: 7,578,900 (GRCm39) |
|
probably benign |
Het |
| Nod1 |
C |
T |
6: 54,914,349 (GRCm39) |
V815I |
probably benign |
Het |
| Or2ag15 |
T |
A |
7: 106,340,364 (GRCm39) |
Y259F |
probably damaging |
Het |
| Or3a1d |
C |
T |
11: 74,238,255 (GRCm39) |
V52I |
probably benign |
Het |
| Or51ab3 |
C |
A |
7: 103,201,064 (GRCm39) |
A24E |
probably damaging |
Het |
| Or51h1 |
T |
A |
7: 102,308,555 (GRCm39) |
S176T |
probably damaging |
Het |
| Or52k2 |
T |
A |
7: 102,253,564 (GRCm39) |
M1K |
probably null |
Het |
| Pms1 |
T |
A |
1: 53,314,410 (GRCm39) |
E45V |
possibly damaging |
Het |
| Prkcsh |
T |
C |
9: 21,917,861 (GRCm39) |
S126P |
possibly damaging |
Het |
| Pros1 |
A |
T |
16: 62,730,408 (GRCm39) |
L299F |
probably damaging |
Het |
| Scrn1 |
A |
G |
6: 54,497,718 (GRCm39) |
I291T |
probably benign |
Het |
| Slc15a2 |
A |
T |
16: 36,572,242 (GRCm39) |
Y676* |
probably null |
Het |
| Tenm2 |
A |
C |
11: 35,915,450 (GRCm39) |
V2028G |
probably damaging |
Het |
| Trpa1 |
T |
C |
1: 14,950,501 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or2a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02888:Or2a5
|
APN |
6 |
42,874,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0830:Or2a5
|
UTSW |
6 |
42,873,532 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1173:Or2a5
|
UTSW |
6 |
42,874,285 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1846:Or2a5
|
UTSW |
6 |
42,874,254 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1913:Or2a5
|
UTSW |
6 |
42,873,687 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2178:Or2a5
|
UTSW |
6 |
42,873,732 (GRCm39) |
missense |
probably benign |
|
|
R3115:Or2a5
|
UTSW |
6 |
42,873,784 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3116:Or2a5
|
UTSW |
6 |
42,873,784 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4717:Or2a5
|
UTSW |
6 |
42,874,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5358:Or2a5
|
UTSW |
6 |
42,873,454 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6249:Or2a5
|
UTSW |
6 |
42,874,238 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6860:Or2a5
|
UTSW |
6 |
42,873,750 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7122:Or2a5
|
UTSW |
6 |
42,874,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8924:Or2a5
|
UTSW |
6 |
42,873,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8988:Or2a5
|
UTSW |
6 |
42,874,201 (GRCm39) |
missense |
|
|
|
R9507:Or2a5
|
UTSW |
6 |
42,873,835 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation