Incidental Mutation 'R0007:Or5p76'
| ID |
212463 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5p76
|
| Ensembl Gene |
ENSMUSG00000058014 |
| Gene Name |
olfactory receptor family 5 subfamily P member 76 |
| Synonyms |
Olfr502, MOR204-8, GA_x6K02T2PBJ9-10853935-10852991 |
| MMRRC Submission |
038302-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.260)
|
| Stock # |
R0007 (G1)
|
| Quality Score |
69 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
108122211-108123155 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108122420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 246
(S246P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151167
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078933]
[ENSMUST00000216919]
|
| AlphaFold |
Q8VG09 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078933
AA Change: S246P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077963
Gene: ENSMUSG00000058014
AA Change: S246P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
311 |
4.8e-55 |
PFAM |
|
Pfam:7tm_1
|
44 |
293 |
7.7e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208361
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216919
AA Change: S246P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.2766 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.5%
|
| Validation Efficiency |
100% (38/38) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
A |
T |
17: 36,270,562 (GRCm39) |
Y543N |
probably damaging |
Het |
| Adgrb3 |
C |
A |
1: 25,150,772 (GRCm39) |
|
probably null |
Het |
| AI504432 |
T |
A |
3: 106,956,152 (GRCm39) |
|
noncoding transcript |
Het |
| Cd82 |
T |
C |
2: 93,264,226 (GRCm39) |
N39S |
probably benign |
Het |
| Cntnap2 |
A |
C |
6: 45,969,007 (GRCm39) |
N250H |
possibly damaging |
Het |
| Col7a1 |
T |
C |
9: 108,790,471 (GRCm39) |
V973A |
unknown |
Het |
| Cyp2c66 |
T |
A |
19: 39,159,402 (GRCm39) |
C284* |
probably null |
Het |
| Denr |
T |
A |
5: 124,062,877 (GRCm39) |
Y127N |
probably damaging |
Het |
| Diaph3 |
C |
A |
14: 87,104,056 (GRCm39) |
R776L |
possibly damaging |
Het |
| Gm5600 |
T |
A |
7: 113,307,010 (GRCm39) |
|
noncoding transcript |
Het |
| Hephl1 |
A |
T |
9: 14,997,471 (GRCm39) |
D398E |
possibly damaging |
Het |
| Lama3 |
T |
A |
18: 12,630,938 (GRCm39) |
|
probably benign |
Het |
| Mtrr |
A |
T |
13: 68,723,449 (GRCm39) |
F154L |
probably benign |
Het |
| Myo1b |
T |
A |
1: 51,815,413 (GRCm39) |
R650S |
probably damaging |
Het |
| Nek10 |
T |
A |
14: 14,840,574 (GRCm38) |
H153Q |
probably benign |
Het |
| Nelfe |
A |
G |
17: 35,072,962 (GRCm39) |
|
probably benign |
Het |
| Nlrp9a |
T |
C |
7: 26,250,515 (GRCm39) |
|
probably benign |
Het |
| Nos1 |
T |
C |
5: 118,048,153 (GRCm39) |
S653P |
probably damaging |
Het |
| Or8b101 |
A |
T |
9: 38,020,390 (GRCm39) |
Y131F |
possibly damaging |
Het |
| Pcsk5 |
C |
A |
19: 17,632,225 (GRCm39) |
G314C |
probably damaging |
Het |
| Ralgps1 |
A |
G |
2: 33,033,401 (GRCm39) |
S393P |
probably damaging |
Het |
| Slc44a4 |
G |
A |
17: 35,140,230 (GRCm39) |
A60T |
probably damaging |
Het |
| Slc4a4 |
G |
A |
5: 89,186,437 (GRCm39) |
D173N |
probably damaging |
Het |
| Sparcl1 |
T |
A |
5: 104,234,946 (GRCm39) |
Q523L |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,806,473 (GRCm39) |
Y63H |
probably damaging |
Het |
| Trim16 |
A |
G |
11: 62,719,944 (GRCm39) |
M84V |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,964,893 (GRCm39) |
A1453T |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,710,548 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or5p76 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02260:Or5p76
|
APN |
7 |
108,122,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0650:Or5p76
|
UTSW |
7 |
108,122,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1448:Or5p76
|
UTSW |
7 |
108,122,525 (GRCm39) |
missense |
probably benign |
|
|
R1469:Or5p76
|
UTSW |
7 |
108,122,411 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1469:Or5p76
|
UTSW |
7 |
108,122,411 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1701:Or5p76
|
UTSW |
7 |
108,122,731 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3736:Or5p76
|
UTSW |
7 |
108,122,626 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5030:Or5p76
|
UTSW |
7 |
108,122,384 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5315:Or5p76
|
UTSW |
7 |
108,123,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6052:Or5p76
|
UTSW |
7 |
108,122,945 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6548:Or5p76
|
UTSW |
7 |
108,122,423 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6866:Or5p76
|
UTSW |
7 |
108,122,377 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6946:Or5p76
|
UTSW |
7 |
108,122,528 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7582:Or5p76
|
UTSW |
7 |
108,123,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8771:Or5p76
|
UTSW |
7 |
108,122,632 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8824:Or5p76
|
UTSW |
7 |
108,122,350 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8854:Or5p76
|
UTSW |
7 |
108,122,936 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9398:Or5p76
|
UTSW |
7 |
108,123,035 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1088:Or5p76
|
UTSW |
7 |
108,122,605 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAACTGTCTTTTCAGAGCACCC -3'
(R):5'- ATGTGGCATCCAGCTTGGTTCAGC -3'
Sequencing Primer
(F):5'- GTCTTTTCAGAGCACCCTTAATC -3'
(R):5'- GTTTTGTGGACCAAACAGAGTC -3'
|
| Posted On |
2014-07-03 |
Incidental Mutation