Incidental Mutation 'R1028:Or2y15'
| ID |
95056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2y15
|
| Ensembl Gene |
ENSMUSG00000063386 |
| Gene Name |
olfactory receptor family 2 subfamily Y member 15 |
| Synonyms |
MOR256-22, GA_x6K02T2QP88-5975166-5974231, Olfr1387 |
| MMRRC Submission |
039130-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R1028 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
49350508-49351443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 49351047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 180
(M180I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073824]
[ENSMUST00000204518]
[ENSMUST00000213674]
[ENSMUST00000214541]
|
| AlphaFold |
Q8VFA9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073824
AA Change: M180I
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000073494
Gene: ENSMUSG00000063386
AA Change: M180I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
306 |
1e-49 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
5.8e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204518
|
| SMART Domains |
Protein: ENSMUSP00000145320
Gene: ENSMUSG00000108167
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
306 |
1.2e-49 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
227 |
1.2e-5 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
7.4e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213674
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214541
AA Change: M180I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.1%
- 10x: 91.8%
- 20x: 78.7%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak7 |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
12: 105,676,448 (GRCm39) |
|
probably benign |
Het |
| Ano8 |
GCCTCCTCCTCCTCCTC |
GCCTCCTCCTCCTC |
8: 71,933,615 (GRCm39) |
|
probably benign |
Het |
| B3galt4 |
G |
A |
17: 34,169,813 (GRCm39) |
R142C |
probably damaging |
Het |
| Bpifb9a |
G |
C |
2: 154,104,327 (GRCm39) |
E257Q |
possibly damaging |
Het |
| Cdh19 |
T |
C |
1: 110,882,314 (GRCm39) |
I59M |
probably benign |
Het |
| Cmah |
A |
G |
13: 24,619,645 (GRCm39) |
D171G |
probably damaging |
Het |
| Colec12 |
T |
C |
18: 9,866,837 (GRCm39) |
S683P |
unknown |
Het |
| Dixdc1 |
C |
T |
9: 50,614,546 (GRCm39) |
A168T |
probably benign |
Het |
| Dpp6 |
A |
G |
5: 27,871,425 (GRCm39) |
D461G |
probably benign |
Het |
| Entpd3 |
A |
G |
9: 120,387,427 (GRCm39) |
H208R |
probably benign |
Het |
| Fuz |
T |
C |
7: 44,546,350 (GRCm39) |
I39T |
probably damaging |
Het |
| Gprin3 |
T |
C |
6: 59,331,594 (GRCm39) |
N238D |
possibly damaging |
Het |
| Itpr3 |
G |
T |
17: 27,310,343 (GRCm39) |
A403S |
probably benign |
Het |
| Mroh2a |
G |
A |
1: 88,163,098 (GRCm39) |
R376H |
probably benign |
Het |
| Mtor |
G |
C |
4: 148,623,287 (GRCm39) |
G2046R |
possibly damaging |
Het |
| Myh13 |
T |
C |
11: 67,247,007 (GRCm39) |
S1243P |
possibly damaging |
Het |
| Net1 |
A |
T |
13: 3,934,375 (GRCm39) |
C441S |
probably damaging |
Het |
| Nlrp4e |
T |
C |
7: 23,021,169 (GRCm39) |
F552S |
probably damaging |
Het |
| Or4k47 |
A |
T |
2: 111,451,870 (GRCm39) |
L183Q |
probably damaging |
Het |
| Or9i16 |
C |
A |
19: 13,865,159 (GRCm39) |
Q138H |
probably damaging |
Het |
| Ovch2 |
T |
C |
7: 107,395,755 (GRCm39) |
I88V |
probably benign |
Het |
| Phf1 |
A |
G |
17: 27,153,307 (GRCm39) |
T42A |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,187,950 (GRCm39) |
Y3453H |
probably damaging |
Het |
| Rabgef1 |
T |
G |
5: 130,241,703 (GRCm39) |
L369* |
probably null |
Het |
| Rufy1 |
A |
T |
11: 50,305,425 (GRCm39) |
|
probably null |
Het |
| Sec16b |
T |
C |
1: 157,388,487 (GRCm39) |
V618A |
probably benign |
Het |
| Sh3rf1 |
A |
G |
8: 61,846,821 (GRCm39) |
R876G |
possibly damaging |
Het |
| Slc26a8 |
A |
G |
17: 28,891,772 (GRCm39) |
Y126H |
probably damaging |
Het |
| Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
| Zp1 |
G |
A |
19: 10,896,275 (GRCm39) |
T150I |
probably benign |
Het |
|
| Other mutations in Or2y15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01362:Or2y15
|
APN |
11 |
49,351,270 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01511:Or2y15
|
APN |
11 |
49,351,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02322:Or2y15
|
APN |
11 |
49,350,784 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2173:Or2y15
|
UTSW |
11 |
49,350,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3894:Or2y15
|
UTSW |
11 |
49,350,766 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5860:Or2y15
|
UTSW |
11 |
49,350,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6279:Or2y15
|
UTSW |
11 |
49,351,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6300:Or2y15
|
UTSW |
11 |
49,351,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6621:Or2y15
|
UTSW |
11 |
49,350,598 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6836:Or2y15
|
UTSW |
11 |
49,350,904 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6888:Or2y15
|
UTSW |
11 |
49,351,087 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9238:Or2y15
|
UTSW |
11 |
49,350,529 (GRCm39) |
missense |
probably benign |
|
|
R9687:Or2y15
|
UTSW |
11 |
49,350,518 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1088:Or2y15
|
UTSW |
11 |
49,351,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCGCTATGCTGCTGTGTGTCATC -3'
(R):5'- GGGCAACAAACTTTCCCTTGCTTTC -3'
Sequencing Primer
(F):5'- GTGTCATCCACTCCACTATACCAG -3'
(R):5'- ACCACCATGAGGTGGGAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation