Incidental Mutation 'R1213:Or6d15'
| ID |
99479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6d15
|
| Ensembl Gene |
ENSMUSG00000050654 |
| Gene Name |
olfactory receptor family 6 subfamily D member 15 |
| Synonyms |
GA_x54KRFPKN04-58217732-58216800, MOR119-2, Olfr215 |
| MMRRC Submission |
039282-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R1213 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
116558973-116559905 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116559827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 27
(S27P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061723]
|
| AlphaFold |
Q8VF82 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061723
AA Change: S27P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000052425
Gene: ENSMUSG00000050654
AA Change: S27P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
5e-47 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
33 |
258 |
1.8e-5 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
2.9e-15 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.3%
- 10x: 95.2%
- 20x: 87.9%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agfg1 |
T |
C |
1: 82,853,055 (GRCm39) |
S142P |
probably damaging |
Het |
| Appl1 |
G |
A |
14: 26,665,950 (GRCm39) |
A388V |
probably benign |
Het |
| Atp11a |
A |
G |
8: 12,892,859 (GRCm39) |
R70G |
probably benign |
Het |
| Atrnl1 |
G |
A |
19: 57,626,894 (GRCm39) |
V167I |
probably benign |
Het |
| Bfar |
T |
C |
16: 13,505,308 (GRCm39) |
I106T |
possibly damaging |
Het |
| Cbx8 |
T |
C |
11: 118,930,359 (GRCm39) |
|
probably null |
Het |
| Cd80 |
T |
C |
16: 38,294,245 (GRCm39) |
S43P |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 38,944,520 (GRCm39) |
A1138T |
probably benign |
Het |
| Fcgbpl1 |
T |
C |
7: 27,857,098 (GRCm39) |
S2149P |
probably damaging |
Het |
| Fmo3 |
C |
A |
1: 162,795,392 (GRCm39) |
G148W |
probably damaging |
Het |
| Ftdc2 |
A |
T |
16: 58,458,057 (GRCm39) |
Y81* |
probably null |
Het |
| Krt78 |
T |
C |
15: 101,860,245 (GRCm39) |
M224V |
probably benign |
Het |
| Moxd2 |
A |
G |
6: 40,868,831 (GRCm39) |
|
probably benign |
Het |
| Or13n4 |
T |
A |
7: 106,423,404 (GRCm39) |
T110S |
possibly damaging |
Het |
| Or2y14 |
T |
A |
11: 49,405,421 (GRCm39) |
*319K |
probably null |
Het |
| Pax6 |
G |
A |
2: 105,516,258 (GRCm39) |
G179R |
probably benign |
Het |
| Rbm12 |
G |
A |
2: 155,939,412 (GRCm39) |
Q287* |
probably null |
Het |
| Rtel1 |
T |
A |
2: 180,993,128 (GRCm39) |
H703Q |
probably benign |
Het |
| Spag17 |
A |
G |
3: 100,002,954 (GRCm39) |
R1893G |
probably benign |
Het |
| Synpo |
A |
G |
18: 60,735,525 (GRCm39) |
V807A |
possibly damaging |
Het |
|
| Other mutations in Or6d15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01666:Or6d15
|
APN |
6 |
116,559,296 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02959:Or6d15
|
APN |
6 |
116,559,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03053:Or6d15
|
APN |
6 |
116,559,206 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0078:Or6d15
|
UTSW |
6 |
116,559,701 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0277:Or6d15
|
UTSW |
6 |
116,559,562 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0323:Or6d15
|
UTSW |
6 |
116,559,562 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0399:Or6d15
|
UTSW |
6 |
116,559,742 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0545:Or6d15
|
UTSW |
6 |
116,559,617 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1775:Or6d15
|
UTSW |
6 |
116,559,925 (GRCm39) |
start gained |
probably benign |
|
|
R1789:Or6d15
|
UTSW |
6 |
116,559,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4724:Or6d15
|
UTSW |
6 |
116,559,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5391:Or6d15
|
UTSW |
6 |
116,559,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5392:Or6d15
|
UTSW |
6 |
116,559,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5686:Or6d15
|
UTSW |
6 |
116,559,890 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6124:Or6d15
|
UTSW |
6 |
116,559,446 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7080:Or6d15
|
UTSW |
6 |
116,559,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7355:Or6d15
|
UTSW |
6 |
116,559,916 (GRCm39) |
start gained |
probably benign |
|
|
R9084:Or6d15
|
UTSW |
6 |
116,559,232 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Or6d15
|
UTSW |
6 |
116,559,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGAGGCTTGCAAATAGCTACAC -3'
(R):5'- ACCTTGAACAGGCTGCTGAATGAC -3'
Sequencing Primer
(F):5'- TGTCCACTGACATCACAGCTATG -3'
(R):5'- GCTGCTGAATGACCTCATTG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation