Incidental Mutation 'R2368:Or5p69'
| ID |
246401 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5p69
|
| Ensembl Gene |
ENSMUSG00000109631 |
| Gene Name |
olfactory receptor family 5 subfamily P member 69 |
| Synonyms |
GA_x6K02T2PBJ9-10697517-10698461, MOR204-10, Olfr494 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R2368 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
107966699-107967643 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107967576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 293
(Y293C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073059]
[ENSMUST00000209743]
[ENSMUST00000210291]
|
| AlphaFold |
Q8VG07 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073059
AA Change: Y293C
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000072810
Gene: ENSMUSG00000109542
AA Change: Y293C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
311 |
2e-56 |
PFAM |
|
Pfam:7tm_1
|
44 |
293 |
2e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209743
AA Change: Y293C
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210291
AA Change: Y293C
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.7465 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid2 |
A |
G |
15: 96,247,893 (GRCm39) |
K102E |
possibly damaging |
Het |
| Bsn |
G |
A |
9: 107,988,229 (GRCm39) |
Q2508* |
probably null |
Het |
| Cc2d2a |
A |
G |
5: 43,861,230 (GRCm39) |
T549A |
probably benign |
Het |
| Lyst |
A |
T |
13: 13,871,248 (GRCm39) |
S2662C |
probably damaging |
Het |
| Nek9 |
A |
G |
12: 85,376,661 (GRCm39) |
V240A |
possibly damaging |
Het |
| Nol4l |
T |
C |
2: 153,259,959 (GRCm39) |
D165G |
probably damaging |
Het |
| Or10ak12 |
A |
G |
4: 118,667,019 (GRCm39) |
V14A |
probably benign |
Het |
| Or14j5 |
A |
T |
17: 38,161,509 (GRCm39) |
M9L |
probably benign |
Het |
| Or8h8 |
A |
T |
2: 86,753,451 (GRCm39) |
Y142N |
probably benign |
Het |
| Plin5 |
T |
C |
17: 56,422,588 (GRCm39) |
E116G |
probably damaging |
Het |
| Slc35d2 |
C |
T |
13: 64,277,119 (GRCm39) |
M1I |
probably null |
Het |
| Srgap1 |
A |
T |
10: 121,665,194 (GRCm39) |
S493T |
probably benign |
Het |
| Syt9 |
T |
A |
7: 107,035,906 (GRCm39) |
Y308N |
probably damaging |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Vmn2r74 |
C |
T |
7: 85,610,522 (GRCm39) |
D57N |
probably benign |
Het |
| Vstm5 |
A |
T |
9: 15,169,027 (GRCm39) |
M166L |
probably benign |
Het |
| Zbtb12 |
T |
C |
17: 35,114,674 (GRCm39) |
L153P |
possibly damaging |
Het |
|
| Other mutations in Or5p69 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01761:Or5p69
|
APN |
7 |
107,967,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01934:Or5p69
|
APN |
7 |
107,967,368 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02041:Or5p69
|
APN |
7 |
107,966,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02253:Or5p69
|
APN |
7 |
107,967,261 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02902:Or5p69
|
APN |
7 |
107,967,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0125:Or5p69
|
UTSW |
7 |
107,967,576 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0523:Or5p69
|
UTSW |
7 |
107,967,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0650:Or5p69
|
UTSW |
7 |
107,966,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1268:Or5p69
|
UTSW |
7 |
107,967,002 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2036:Or5p69
|
UTSW |
7 |
107,966,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2162:Or5p69
|
UTSW |
7 |
107,966,769 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2278:Or5p69
|
UTSW |
7 |
107,967,288 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3410:Or5p69
|
UTSW |
7 |
107,967,551 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R3411:Or5p69
|
UTSW |
7 |
107,967,551 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R3834:Or5p69
|
UTSW |
7 |
107,967,279 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4322:Or5p69
|
UTSW |
7 |
107,967,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4625:Or5p69
|
UTSW |
7 |
107,966,895 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4724:Or5p69
|
UTSW |
7 |
107,967,205 (GRCm39) |
missense |
probably benign |
|
|
R4843:Or5p69
|
UTSW |
7 |
107,967,350 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5525:Or5p69
|
UTSW |
7 |
107,967,206 (GRCm39) |
missense |
probably benign |
|
|
R5954:Or5p69
|
UTSW |
7 |
107,966,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7027:Or5p69
|
UTSW |
7 |
107,967,557 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8041:Or5p69
|
UTSW |
7 |
107,966,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8237:Or5p69
|
UTSW |
7 |
107,967,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9566:Or5p69
|
UTSW |
7 |
107,966,783 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Or5p69
|
UTSW |
7 |
107,967,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGAAGATGCACTCCACTGAG -3'
(R):5'- TAGCCACATATACTGCAAGGAAAAG -3'
Sequencing Primer
(F):5'- AGGGCAGACACAAGGCCTTC -3'
(R):5'- ACATATACTGCAAGGAAAAGGATATG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation