Incidental Mutation 'R3011:Or13e8'
ID |
257502 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or13e8
|
Ensembl Gene |
ENSMUSG00000050215 |
Gene Name |
olfactory receptor family 13 subfamily E member 8 |
Synonyms |
Olfr70, GA_x6K02T2N78B-16239704-16240654, MOR262-10, mOR6 |
MMRRC Submission |
040533-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R3011 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
43695000-43700807 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 43696624 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 183
(A183E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060748
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055545]
[ENSMUST00000107864]
[ENSMUST00000107865]
[ENSMUST00000107866]
[ENSMUST00000167153]
|
AlphaFold |
Q80ZX9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055545
AA Change: A183E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000060748 Gene: ENSMUSG00000050215 AA Change: A183E
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
30 |
306 |
9.6e-51 |
PFAM |
Pfam:7tm_1
|
41 |
289 |
3.4e-20 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107864
|
SMART Domains |
Protein: ENSMUSP00000103496 Gene: ENSMUSG00000078716
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
EGF
|
185 |
221 |
1.95e1 |
SMART |
Pfam:DUF3522
|
229 |
415 |
2.1e-70 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107865
|
SMART Domains |
Protein: ENSMUSP00000103497 Gene: ENSMUSG00000078716
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
EGF
|
185 |
221 |
1.95e1 |
SMART |
Pfam:DUF3522
|
229 |
415 |
2.1e-70 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107866
|
SMART Domains |
Protein: ENSMUSP00000103498 Gene: ENSMUSG00000078716
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
low complexity region
|
45 |
71 |
N/A |
INTRINSIC |
low complexity region
|
87 |
102 |
N/A |
INTRINSIC |
low complexity region
|
115 |
137 |
N/A |
INTRINSIC |
low complexity region
|
427 |
443 |
N/A |
INTRINSIC |
EGF
|
606 |
642 |
1.95e1 |
SMART |
Pfam:DUF3522
|
652 |
836 |
1.4e-54 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158322
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167153
|
SMART Domains |
Protein: ENSMUSP00000129760 Gene: ENSMUSG00000078716
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
EGF
|
185 |
221 |
1.95e1 |
SMART |
Pfam:DUF3522
|
229 |
415 |
2.1e-70 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
100% (29/29) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap31 |
A |
C |
16: 38,422,269 (GRCm39) |
C1266G |
possibly damaging |
Het |
Brme1 |
C |
A |
8: 84,893,539 (GRCm39) |
Y235* |
probably null |
Het |
Cers5 |
A |
G |
15: 99,670,598 (GRCm39) |
|
probably benign |
Het |
Clasp2 |
C |
T |
9: 113,730,581 (GRCm39) |
T905M |
probably damaging |
Het |
Clec16a |
A |
G |
16: 10,428,975 (GRCm39) |
N469S |
probably benign |
Het |
Commd3 |
T |
A |
2: 18,679,499 (GRCm39) |
V128D |
probably damaging |
Het |
Cped1 |
A |
G |
6: 22,088,695 (GRCm39) |
T253A |
probably damaging |
Het |
Dnajc5b |
A |
T |
3: 19,600,966 (GRCm39) |
Y21F |
probably damaging |
Het |
Fhip2a |
T |
A |
19: 57,373,720 (GRCm39) |
L660Q |
probably damaging |
Het |
Gm14403 |
A |
G |
2: 177,200,786 (GRCm39) |
D244G |
probably benign |
Het |
Gm5414 |
T |
C |
15: 101,534,047 (GRCm39) |
D312G |
probably damaging |
Het |
Ifi204 |
T |
C |
1: 173,579,217 (GRCm39) |
S543G |
probably benign |
Het |
Itga11 |
T |
A |
9: 62,604,262 (GRCm39) |
I50N |
probably damaging |
Het |
Lct |
C |
T |
1: 128,229,109 (GRCm39) |
V795I |
possibly damaging |
Het |
Lrrc37 |
T |
A |
11: 103,503,929 (GRCm39) |
T504S |
possibly damaging |
Het |
Map2 |
A |
G |
1: 66,453,771 (GRCm39) |
D887G |
probably damaging |
Het |
Mgat4e |
T |
A |
1: 134,469,846 (GRCm39) |
D66V |
possibly damaging |
Het |
Nqo1 |
C |
T |
8: 108,115,743 (GRCm39) |
R178H |
probably benign |
Het |
Or5h22 |
A |
G |
16: 58,895,350 (GRCm39) |
V31A |
probably benign |
Het |
Otof |
G |
A |
5: 30,540,184 (GRCm39) |
A999V |
probably damaging |
Het |
Phf20 |
A |
G |
2: 156,129,946 (GRCm39) |
D506G |
probably benign |
Het |
Pth2r |
C |
T |
1: 65,376,147 (GRCm39) |
H97Y |
probably benign |
Het |
Snx18 |
G |
A |
13: 113,753,422 (GRCm39) |
Q504* |
probably null |
Het |
Sppl2c |
C |
T |
11: 104,078,141 (GRCm39) |
P314S |
probably benign |
Het |
Srgap2 |
T |
A |
1: 131,238,329 (GRCm39) |
Q520L |
probably damaging |
Het |
Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
Tlr4 |
A |
T |
4: 66,757,491 (GRCm39) |
K95* |
probably null |
Het |
Tmem59l |
A |
T |
8: 70,938,887 (GRCm39) |
C96S |
probably damaging |
Het |
Tmtc3 |
G |
T |
10: 100,283,444 (GRCm39) |
P704T |
possibly damaging |
Het |
Upp2 |
T |
C |
2: 58,680,107 (GRCm39) |
V293A |
probably damaging |
Het |
Vps72 |
A |
G |
3: 95,026,585 (GRCm39) |
K177E |
probably damaging |
Het |
|
Other mutations in Or13e8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0111:Or13e8
|
UTSW |
4 |
43,696,648 (GRCm39) |
missense |
probably damaging |
0.99 |
R0501:Or13e8
|
UTSW |
4 |
43,697,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R0973:Or13e8
|
UTSW |
4 |
43,696,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R0973:Or13e8
|
UTSW |
4 |
43,696,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R0974:Or13e8
|
UTSW |
4 |
43,696,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R1413:Or13e8
|
UTSW |
4 |
43,697,011 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1452:Or13e8
|
UTSW |
4 |
43,696,823 (GRCm39) |
missense |
probably benign |
0.12 |
R1574:Or13e8
|
UTSW |
4 |
43,697,134 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1574:Or13e8
|
UTSW |
4 |
43,697,134 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2159:Or13e8
|
UTSW |
4 |
43,697,110 (GRCm39) |
missense |
probably benign |
0.01 |
R5493:Or13e8
|
UTSW |
4 |
43,696,225 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5651:Or13e8
|
UTSW |
4 |
43,696,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R6938:Or13e8
|
UTSW |
4 |
43,696,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R6976:Or13e8
|
UTSW |
4 |
43,697,170 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R7315:Or13e8
|
UTSW |
4 |
43,696,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R8912:Or13e8
|
UTSW |
4 |
43,697,017 (GRCm39) |
missense |
probably benign |
0.19 |
R9443:Or13e8
|
UTSW |
4 |
43,696,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R9780:Or13e8
|
UTSW |
4 |
43,697,193 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GATGGTTCCATAGAAAATCACCACC -3'
(R):5'- TGGCTGTGATGGCATACGAC -3'
Sequencing Primer
(F):5'- TAGAAAATCACCACCACCGTGAG -3'
(R):5'- TGTGATGGCATACGACCGGTAC -3'
|
Posted On |
2015-01-11 |