Incidental Mutation 'R6938:Or13e8'
| ID |
540373 |
| 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 |
045052-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R6938 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
43695000-43700807 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 43696286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 296
(V296M)
|
| 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: V296M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000060748
Gene: ENSMUSG00000050215
AA Change: V296M
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
T |
C |
4: 152,302,351 (GRCm39) |
|
probably null |
Het |
| Acp6 |
T |
C |
3: 97,082,949 (GRCm39) |
M320T |
probably benign |
Het |
| Adam22 |
A |
T |
5: 8,196,499 (GRCm39) |
Y259N |
probably benign |
Het |
| Akap9 |
C |
A |
5: 4,096,628 (GRCm39) |
A2501D |
possibly damaging |
Het |
| Angpt2 |
G |
T |
8: 18,748,105 (GRCm39) |
S385* |
probably null |
Het |
| Asxl2 |
G |
C |
12: 3,526,149 (GRCm39) |
R255T |
probably damaging |
Het |
| Btg3 |
T |
C |
16: 78,157,216 (GRCm39) |
I244V |
probably benign |
Het |
| Casr |
T |
C |
16: 36,316,283 (GRCm39) |
T596A |
probably damaging |
Het |
| Ccl1 |
A |
T |
11: 82,067,684 (GRCm39) |
V82D |
probably damaging |
Het |
| Col18a1 |
T |
A |
10: 76,948,333 (GRCm39) |
|
probably benign |
Het |
| Crybg1 |
T |
C |
10: 43,873,379 (GRCm39) |
D1243G |
probably benign |
Het |
| Dnaaf9 |
A |
C |
2: 130,617,673 (GRCm39) |
H297Q |
probably benign |
Het |
| Drc3 |
A |
T |
11: 60,284,949 (GRCm39) |
|
probably null |
Het |
| Enpep |
T |
C |
3: 129,092,599 (GRCm39) |
D528G |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Gbp4 |
T |
C |
5: 105,282,943 (GRCm39) |
D109G |
probably damaging |
Het |
| Gstz1 |
A |
G |
12: 87,193,943 (GRCm39) |
|
probably null |
Het |
| Kctd10 |
C |
A |
5: 114,508,191 (GRCm39) |
E106* |
probably null |
Het |
| Kctd20 |
G |
A |
17: 29,180,555 (GRCm39) |
G110S |
probably benign |
Het |
| Klk1b26 |
A |
T |
7: 43,665,718 (GRCm39) |
T177S |
probably benign |
Het |
| Kyat3 |
T |
A |
3: 142,431,183 (GRCm39) |
V118E |
probably damaging |
Het |
| Maml3 |
T |
C |
3: 52,011,159 (GRCm39) |
K136E |
probably damaging |
Het |
| Mex3d |
T |
C |
10: 80,218,074 (GRCm39) |
N381S |
possibly damaging |
Het |
| Mmrn2 |
A |
T |
14: 34,120,671 (GRCm39) |
T514S |
probably benign |
Het |
| Nlrp1b |
G |
A |
11: 71,109,042 (GRCm39) |
A153V |
probably damaging |
Het |
| Pcolce |
T |
C |
5: 137,603,878 (GRCm39) |
T365A |
probably benign |
Het |
| Plbd1 |
T |
C |
6: 136,593,985 (GRCm39) |
I377V |
probably benign |
Het |
| Plk2 |
T |
A |
13: 110,533,214 (GRCm39) |
Y192* |
probably null |
Het |
| Rev3l |
T |
A |
10: 39,738,706 (GRCm39) |
V2820D |
probably damaging |
Het |
| Secisbp2l |
G |
T |
2: 125,592,272 (GRCm39) |
P650T |
probably damaging |
Het |
| Slc9a5 |
T |
C |
8: 106,080,064 (GRCm39) |
L69P |
probably damaging |
Het |
| Sp9 |
T |
C |
2: 73,103,616 (GRCm39) |
C57R |
probably damaging |
Het |
| Tbl3 |
A |
T |
17: 24,924,187 (GRCm39) |
V190D |
possibly damaging |
Het |
| Timm8b |
A |
G |
9: 50,516,294 (GRCm39) |
D49G |
possibly damaging |
Het |
| Tmem231 |
T |
C |
8: 112,660,144 (GRCm39) |
S53G |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,205,753 (GRCm39) |
V797D |
probably damaging |
Het |
| Trip11 |
A |
T |
12: 101,803,886 (GRCm39) |
D1665E |
probably damaging |
Het |
| Txk |
C |
A |
5: 72,856,492 (GRCm39) |
R433L |
probably damaging |
Het |
| Vmn1r19 |
T |
C |
6: 57,381,992 (GRCm39) |
S182P |
possibly damaging |
Het |
| Vps13b |
T |
G |
15: 35,423,344 (GRCm39) |
I221M |
probably damaging |
Het |
| Xpo7 |
T |
C |
14: 70,903,464 (GRCm39) |
N1082D |
probably benign |
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 |
|
R3011:Or13e8
|
UTSW |
4 |
43,696,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CTAAGTTTGTTGGGATCTTGGACCC -3'
(R):5'- TCCTGGCTGCTATCCTTAGG -3'
Sequencing Primer
(F):5'- CAGTGTTATCCTGAGTCCCAGAAG -3'
(R):5'- GCTGCTATCCTTAGGGTGCC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation