Incidental Mutation 'R3898:Or2y13'
| ID |
309064 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2y13
|
| Ensembl Gene |
ENSMUSG00000107417 |
| Gene Name |
olfactory receptor family 2 subfamily Y member 14 |
| Synonyms |
Olfr1383, GA_x6K02T2QP88-5912627-5911692, MOR256-56 |
| MMRRC Submission |
040906-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R3898 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
49414552-49415487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 49415386 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 279
(I279F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145258
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077143]
[ENSMUST00000204706]
[ENSMUST00000213152]
[ENSMUST00000213707]
[ENSMUST00000213899]
[ENSMUST00000217564]
|
| AlphaFold |
Q7TQT2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077143
AA Change: I279F
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000076390
Gene: ENSMUSG00000107417
AA Change: I279F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
1.4e-44 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
3e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204706
AA Change: I279F
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000145258
Gene: ENSMUSG00000107417
AA Change: I279F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
1.4e-44 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
3e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213152
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213707
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213899
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217564
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg1 |
A |
C |
16: 5,054,253 (GRCm39) |
I154L |
possibly damaging |
Het |
| Ankra2 |
C |
T |
13: 98,410,317 (GRCm39) |
L136F |
probably benign |
Het |
| Anpep |
A |
G |
7: 79,488,973 (GRCm39) |
S372P |
probably benign |
Het |
| Cabyr |
T |
C |
18: 12,884,580 (GRCm39) |
S356P |
probably benign |
Het |
| Cad |
G |
T |
5: 31,231,366 (GRCm39) |
C1633F |
probably benign |
Het |
| Cadps2 |
G |
A |
6: 23,528,125 (GRCm39) |
R425W |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,912,799 (GRCm39) |
K593E |
possibly damaging |
Het |
| Cdh8 |
T |
A |
8: 99,898,005 (GRCm39) |
E436V |
probably damaging |
Het |
| Cfap95 |
A |
G |
19: 23,570,466 (GRCm39) |
V101A |
probably benign |
Het |
| Cln6 |
T |
G |
9: 62,757,934 (GRCm39) |
F231C |
probably damaging |
Het |
| Cul2 |
A |
G |
18: 3,434,033 (GRCm39) |
K677E |
probably benign |
Het |
| Cyp2c69 |
T |
C |
19: 39,864,834 (GRCm39) |
I215V |
probably benign |
Het |
| Dhx36 |
T |
C |
3: 62,399,790 (GRCm39) |
D393G |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,282,417 (GRCm39) |
V2850A |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 31,073,872 (GRCm39) |
R4514H |
probably damaging |
Het |
| Drg2 |
T |
A |
11: 60,347,460 (GRCm39) |
S50T |
probably benign |
Het |
| Ecscr |
A |
G |
18: 35,846,705 (GRCm39) |
S230P |
possibly damaging |
Het |
| Eif2ak4 |
T |
C |
2: 118,261,404 (GRCm39) |
V527A |
probably damaging |
Het |
| Elfn1 |
G |
A |
5: 139,957,719 (GRCm39) |
R241H |
probably damaging |
Het |
| Fchsd2 |
A |
G |
7: 100,841,006 (GRCm39) |
K172E |
possibly damaging |
Het |
| Fli1 |
C |
T |
9: 32,388,018 (GRCm39) |
G24R |
possibly damaging |
Het |
| Frmd3 |
A |
G |
4: 73,992,346 (GRCm39) |
D71G |
probably damaging |
Het |
| Ggnbp1 |
A |
G |
17: 27,244,312 (GRCm39) |
|
probably benign |
Het |
| Gpat2 |
T |
C |
2: 127,277,018 (GRCm39) |
F713S |
probably damaging |
Het |
| H2-Q2 |
C |
T |
17: 35,561,743 (GRCm39) |
P78S |
probably damaging |
Het |
| Kcnq2 |
C |
T |
2: 180,751,479 (GRCm39) |
A306T |
probably damaging |
Het |
| Lmntd1 |
G |
A |
6: 145,359,152 (GRCm39) |
P333S |
probably benign |
Het |
| Lrp1 |
G |
A |
10: 127,427,969 (GRCm39) |
R535* |
probably null |
Het |
| Mmrn2 |
G |
T |
14: 34,121,517 (GRCm39) |
|
probably null |
Het |
| Nlrp1a |
G |
A |
11: 71,013,700 (GRCm39) |
P517S |
probably benign |
Het |
| Pou4f1 |
T |
C |
14: 104,703,165 (GRCm39) |
*422W |
probably null |
Het |
| Ptpn14 |
C |
T |
1: 189,582,728 (GRCm39) |
P525L |
probably benign |
Het |
| Pyroxd2 |
C |
A |
19: 42,728,831 (GRCm39) |
G190C |
probably damaging |
Het |
| Rd3 |
T |
C |
1: 191,717,217 (GRCm39) |
V114A |
probably damaging |
Het |
| Sptbn5 |
T |
C |
2: 119,887,691 (GRCm39) |
|
noncoding transcript |
Het |
| Tbc1d5 |
A |
T |
17: 51,270,772 (GRCm39) |
F153Y |
probably damaging |
Het |
| Thop1 |
G |
A |
10: 80,916,278 (GRCm39) |
G429S |
probably damaging |
Het |
| Trim30d |
T |
A |
7: 104,132,736 (GRCm39) |
I184L |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 37,997,983 (GRCm39) |
S1727G |
probably benign |
Het |
| Vezf1 |
T |
C |
11: 87,966,999 (GRCm39) |
F77L |
probably benign |
Het |
| Vmn2r12 |
C |
T |
5: 109,238,370 (GRCm39) |
A457T |
probably benign |
Het |
| Xirp1 |
A |
T |
9: 119,848,406 (GRCm39) |
M159K |
probably benign |
Het |
| Zkscan17 |
C |
T |
11: 59,394,263 (GRCm39) |
A113T |
probably damaging |
Het |
| Zyg11a |
T |
A |
4: 108,067,391 (GRCm39) |
N40Y |
probably damaging |
Het |
|
| Other mutations in Or2y13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02193:Or2y13
|
APN |
11 |
49,414,571 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL03178:Or2y13
|
APN |
11 |
49,414,817 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0089:Or2y13
|
UTSW |
11 |
49,415,033 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0112:Or2y13
|
UTSW |
11 |
49,414,961 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0243:Or2y13
|
UTSW |
11 |
49,414,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0445:Or2y13
|
UTSW |
11 |
49,414,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0646:Or2y13
|
UTSW |
11 |
49,415,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1695:Or2y13
|
UTSW |
11 |
49,415,162 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2142:Or2y13
|
UTSW |
11 |
49,414,666 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4085:Or2y13
|
UTSW |
11 |
49,414,955 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5677:Or2y13
|
UTSW |
11 |
49,414,771 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6187:Or2y13
|
UTSW |
11 |
49,414,338 (GRCm39) |
unclassified |
probably benign |
|
|
R6272:Or2y13
|
UTSW |
11 |
49,414,953 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6287:Or2y13
|
UTSW |
11 |
49,415,072 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6898:Or2y13
|
UTSW |
11 |
49,414,536 (GRCm39) |
unclassified |
probably benign |
|
|
R7007:Or2y13
|
UTSW |
11 |
49,415,011 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7452:Or2y13
|
UTSW |
11 |
49,415,208 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7699:Or2y13
|
UTSW |
11 |
49,415,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7700:Or2y13
|
UTSW |
11 |
49,415,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0017:Or2y13
|
UTSW |
11 |
49,414,829 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCATGCAGTGTTGAAGATC -3'
(R):5'- AGAAGTACAATCATGATGCCTACTGAG -3'
Sequencing Primer
(F):5'- GCTCATGCAGTGTTGAAGATCAAGTC -3'
(R):5'- CTGGAGAATAATAGGTCTCTATAGGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation