Incidental Mutation 'R6534:Or5d47'
| ID |
520253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5d47
|
| Ensembl Gene |
ENSMUSG00000075142 |
| Gene Name |
olfactory receptor family 5 subfamily D member 47 |
| Synonyms |
GA_x6K02T2Q125-49458388-49457432, MOR174-4, mOR-EV, Olfr74 |
| MMRRC Submission |
044660-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R6534 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
87804051-87805007 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87804385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 208
(A208V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097428
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099840]
|
| AlphaFold |
A2BHP6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099840
AA Change: A208V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000097428
Gene: ENSMUSG00000075142
AA Change: A208V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
308 |
5.4e-47 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
2e-17 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (37/37) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer3 |
A |
T |
7: 97,875,655 (GRCm39) |
L142M |
probably benign |
Het |
| Adgrb2 |
T |
C |
4: 129,916,012 (GRCm39) |
F1435L |
probably damaging |
Het |
| Anapc13 |
T |
C |
9: 102,511,292 (GRCm39) |
L60P |
probably damaging |
Het |
| Apaf1 |
T |
C |
10: 90,891,862 (GRCm39) |
D497G |
probably damaging |
Het |
| Arpc1b |
A |
T |
5: 145,059,377 (GRCm39) |
I34F |
probably damaging |
Het |
| Atp2a2 |
A |
T |
5: 122,595,261 (GRCm39) |
W1030R |
possibly damaging |
Het |
| Cdk5rap2 |
T |
C |
4: 70,273,050 (GRCm39) |
E241G |
probably damaging |
Het |
| Cyp4a14 |
T |
A |
4: 115,347,156 (GRCm39) |
|
probably null |
Het |
| Ddx10 |
A |
G |
9: 53,134,988 (GRCm39) |
Y399H |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,846,074 (GRCm39) |
E2988G |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,481,388 (GRCm39) |
I536M |
probably benign |
Het |
| Drc7 |
T |
C |
8: 95,797,910 (GRCm39) |
Y443H |
probably damaging |
Het |
| Ecel1 |
A |
G |
1: 87,082,564 (GRCm39) |
S50P |
probably benign |
Het |
| Esco1 |
T |
A |
18: 10,594,794 (GRCm39) |
Q164L |
possibly damaging |
Het |
| Exosc7 |
A |
G |
9: 122,961,077 (GRCm39) |
D248G |
probably benign |
Het |
| Galnt3 |
A |
G |
2: 65,932,875 (GRCm39) |
L201P |
probably damaging |
Het |
| Hand2 |
C |
A |
8: 57,775,071 (GRCm39) |
H44N |
probably benign |
Het |
| Kcnq1 |
C |
T |
7: 142,748,064 (GRCm39) |
P411S |
probably benign |
Het |
| Lonp2 |
A |
G |
8: 87,443,086 (GRCm39) |
D429G |
probably benign |
Het |
| Magi3 |
A |
G |
3: 103,992,536 (GRCm39) |
I312T |
possibly damaging |
Het |
| Mansc4 |
A |
T |
6: 146,988,371 (GRCm39) |
I31N |
probably damaging |
Het |
| Mill2 |
T |
A |
7: 18,590,521 (GRCm39) |
D200E |
possibly damaging |
Het |
| Pde4d |
A |
G |
13: 109,769,435 (GRCm39) |
K41R |
probably benign |
Het |
| Pik3r5 |
G |
A |
11: 68,381,443 (GRCm39) |
D210N |
possibly damaging |
Het |
| Plcl1 |
C |
T |
1: 55,735,907 (GRCm39) |
T416I |
probably damaging |
Het |
| Plekhd1 |
T |
C |
12: 80,754,031 (GRCm39) |
Y166H |
probably damaging |
Het |
| Prrc1 |
A |
G |
18: 57,522,346 (GRCm39) |
T393A |
probably damaging |
Het |
| Scaper |
A |
T |
9: 55,791,260 (GRCm39) |
C213S |
probably benign |
Het |
| Sfxn4 |
T |
C |
19: 60,827,461 (GRCm39) |
I298V |
probably damaging |
Het |
| Slc36a2 |
A |
T |
11: 55,075,693 (GRCm39) |
D31E |
probably benign |
Het |
| Stra6l |
G |
A |
4: 45,860,041 (GRCm39) |
|
probably null |
Het |
| Tnpo3 |
A |
T |
6: 29,572,702 (GRCm39) |
|
probably null |
Het |
| Tonsl |
A |
G |
15: 76,513,877 (GRCm39) |
Y1231H |
probably damaging |
Het |
| Ush2a |
C |
A |
1: 188,183,999 (GRCm39) |
Y1434* |
probably null |
Het |
| Zfp69 |
T |
C |
4: 120,788,394 (GRCm39) |
Y307C |
probably benign |
Het |
|
| Other mutations in Or5d47 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01545:Or5d47
|
APN |
2 |
87,804,895 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02119:Or5d47
|
APN |
2 |
87,804,754 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02332:Or5d47
|
APN |
2 |
87,804,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02626:Or5d47
|
APN |
2 |
87,804,068 (GRCm39) |
missense |
probably benign |
|
|
IGL03022:Or5d47
|
APN |
2 |
87,804,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1015:Or5d47
|
UTSW |
2 |
87,804,431 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1908:Or5d47
|
UTSW |
2 |
87,804,403 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2358:Or5d47
|
UTSW |
2 |
87,804,066 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3711:Or5d47
|
UTSW |
2 |
87,804,066 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4646:Or5d47
|
UTSW |
2 |
87,804,142 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4807:Or5d47
|
UTSW |
2 |
87,804,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5026:Or5d47
|
UTSW |
2 |
87,804,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5928:Or5d47
|
UTSW |
2 |
87,804,380 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6010:Or5d47
|
UTSW |
2 |
87,804,886 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6243:Or5d47
|
UTSW |
2 |
87,804,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6848:Or5d47
|
UTSW |
2 |
87,804,514 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8422:Or5d47
|
UTSW |
2 |
87,804,143 (GRCm39) |
missense |
probably benign |
|
|
R8822:Or5d47
|
UTSW |
2 |
87,804,785 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8824:Or5d47
|
UTSW |
2 |
87,804,347 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9375:Or5d47
|
UTSW |
2 |
87,804,526 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9523:Or5d47
|
UTSW |
2 |
87,804,945 (GRCm39) |
nonsense |
probably null |
|
|
R9665:Or5d47
|
UTSW |
2 |
87,804,596 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9785:Or5d47
|
UTSW |
2 |
87,804,245 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAATTCTTAGAGTTGGGCACAC -3'
(R):5'- TAGCCATGTCCCAGAAACTCTG -3'
Sequencing Primer
(F):5'- CAGGTGGAGAAAGCCTTA -3'
(R):5'- CAGAAACTCTGTATCACACTGGTGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation