Incidental Mutation 'R0206:Or6f1'
| ID |
66382 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6f1
|
| Ensembl Gene |
ENSMUSG00000054498 |
| Gene Name |
olfactory receptor family 6 subfamily F member 1 |
| Synonyms |
Olfr308, GA_x6K02T2NHDJ-9786435-9787361, MOR104-1 |
| MMRRC Submission |
038459-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R0206 (G1)
|
| Quality Score |
99 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
85970232-85971158 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85970854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 102
(Y102C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150391
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044256]
[ENSMUST00000214977]
|
| AlphaFold |
Q8VFP2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044256
AA Change: Y102C
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000049454
Gene: ENSMUSG00000054498
AA Change: Y102C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
2.3e-53 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2.2e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214977
AA Change: Y102C
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215841
|
| Meta Mutation Damage Score |
0.2126 |
| Coding Region Coverage |
- 1x: 95.8%
- 3x: 87.0%
- 10x: 38.5%
- 20x: 5.3%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
G |
A |
17: 48,470,486 (GRCm39) |
T165I |
probably benign |
Het |
| Adam26a |
A |
C |
8: 44,023,455 (GRCm39) |
F12V |
possibly damaging |
Het |
| Aldh1l1 |
T |
C |
6: 90,546,848 (GRCm39) |
F384L |
possibly damaging |
Het |
| Cit |
A |
T |
5: 116,132,089 (GRCm39) |
N1782Y |
possibly damaging |
Het |
| Cmya5 |
A |
G |
13: 93,232,065 (GRCm39) |
S1008P |
probably damaging |
Het |
| Dnah11 |
A |
C |
12: 118,007,509 (GRCm39) |
N2156K |
probably damaging |
Het |
| Gm20441 |
A |
G |
10: 75,608,719 (GRCm39) |
M1T |
probably null |
Het |
| Inhca |
A |
G |
9: 103,159,861 (GRCm39) |
C5R |
probably damaging |
Het |
| Inpp5k |
T |
C |
11: 75,521,969 (GRCm39) |
I15T |
probably benign |
Het |
| Loxhd1 |
T |
A |
18: 77,492,562 (GRCm39) |
F1334L |
possibly damaging |
Het |
| Me3 |
A |
T |
7: 89,498,868 (GRCm39) |
T483S |
probably benign |
Het |
| Med1 |
A |
G |
11: 98,046,515 (GRCm39) |
|
probably benign |
Het |
| Mxra8 |
T |
A |
4: 155,927,053 (GRCm39) |
I329N |
probably damaging |
Het |
| Mybphl |
T |
C |
3: 108,282,731 (GRCm39) |
V207A |
probably damaging |
Het |
| Myom1 |
T |
C |
17: 71,344,292 (GRCm39) |
S266P |
probably damaging |
Het |
| Or1d2 |
A |
T |
11: 74,255,968 (GRCm39) |
I158F |
probably benign |
Het |
| Or52b1 |
A |
T |
7: 104,979,090 (GRCm39) |
M103K |
possibly damaging |
Het |
| Or5m3 |
T |
C |
2: 85,838,636 (GRCm39) |
I172T |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,355,368 (GRCm39) |
D1556E |
probably damaging |
Het |
| Slc35d1 |
T |
C |
4: 103,065,351 (GRCm39) |
T177A |
probably damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,447,333 (GRCm39) |
T578A |
probably benign |
Het |
| Zkscan1 |
T |
A |
5: 138,099,448 (GRCm39) |
C391S |
probably damaging |
Het |
|
| Other mutations in Or6f1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01113:Or6f1
|
APN |
7 |
85,970,361 (GRCm39) |
missense |
probably benign |
|
|
IGL03141:Or6f1
|
APN |
7 |
85,970,909 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4519001:Or6f1
|
UTSW |
7 |
85,970,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0206:Or6f1
|
UTSW |
7 |
85,970,854 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0401:Or6f1
|
UTSW |
7 |
85,970,500 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2132:Or6f1
|
UTSW |
7 |
85,970,687 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3983:Or6f1
|
UTSW |
7 |
85,970,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4596:Or6f1
|
UTSW |
7 |
85,970,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5532:Or6f1
|
UTSW |
7 |
85,970,879 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7326:Or6f1
|
UTSW |
7 |
85,970,782 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7480:Or6f1
|
UTSW |
7 |
85,970,888 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8746:Or6f1
|
UTSW |
7 |
85,970,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8811:Or6f1
|
UTSW |
7 |
85,970,989 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8971:Or6f1
|
UTSW |
7 |
85,970,369 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9497:Or6f1
|
UTSW |
7 |
85,970,989 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9666:Or6f1
|
UTSW |
7 |
85,970,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2013-08-19 |
Incidental Mutation