Incidental Mutation 'IGL02044:Or8c9'
| ID |
184873 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or8c9
|
| Ensembl Gene |
ENSMUSG00000058270 |
| Gene Name |
olfactory receptor family 8 subfamily C member 9 |
| Synonyms |
Olfr25, MOR170-4, GA_x6K02T2PVTD-32017922-32018863, MTPCR18 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL02044
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
38240788-38241855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38241461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 193
(S193G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071449]
[ENSMUST00000212354]
[ENSMUST00000214155]
|
| AlphaFold |
Q7TRD6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071449
AA Change: S193G
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000071393
Gene: ENSMUSG00000058270
AA Change: S193G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
310 |
3.1e-46 |
PFAM |
|
Pfam:7tm_1
|
44 |
243 |
8e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212354
AA Change: S190G
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214155
AA Change: S190G
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| Coding Region Coverage |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam8 |
T |
C |
7: 139,562,735 (GRCm39) |
D772G |
possibly damaging |
Het |
| Atp6v0a2 |
T |
A |
5: 124,783,954 (GRCm39) |
N267K |
probably benign |
Het |
| Cx3cl1 |
T |
A |
8: 95,507,168 (GRCm39) |
V391D |
probably damaging |
Het |
| Dscaml1 |
C |
T |
9: 45,658,241 (GRCm39) |
R1671* |
probably null |
Het |
| Dzip3 |
A |
T |
16: 48,768,790 (GRCm39) |
S443T |
possibly damaging |
Het |
| Hrh2 |
A |
T |
13: 54,368,965 (GRCm39) |
T314S |
probably benign |
Het |
| Ifi206 |
C |
T |
1: 173,308,557 (GRCm39) |
V480M |
probably benign |
Het |
| Krt84 |
A |
G |
15: 101,436,931 (GRCm39) |
Y368H |
probably damaging |
Het |
| Lama1 |
T |
C |
17: 68,118,485 (GRCm39) |
S2566P |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,887,431 (GRCm39) |
F3087I |
probably damaging |
Het |
| Map3k19 |
A |
T |
1: 127,751,242 (GRCm39) |
L703H |
probably damaging |
Het |
| Or8g50 |
C |
T |
9: 39,648,270 (GRCm39) |
S53L |
possibly damaging |
Het |
| Pard6a |
A |
G |
8: 106,429,651 (GRCm39) |
D203G |
probably damaging |
Het |
| Pate7 |
T |
C |
9: 35,687,959 (GRCm39) |
K94E |
probably benign |
Het |
| Pde8a |
T |
C |
7: 80,967,197 (GRCm39) |
|
probably null |
Het |
| Pdia6 |
C |
A |
12: 17,333,227 (GRCm39) |
T400K |
probably damaging |
Het |
| Pdzd8 |
A |
T |
19: 59,303,724 (GRCm39) |
V354D |
possibly damaging |
Het |
| Sec13 |
A |
G |
6: 113,713,381 (GRCm39) |
I39T |
probably damaging |
Het |
| Smyd3 |
C |
T |
1: 178,799,844 (GRCm39) |
S365N |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,276,597 (GRCm39) |
|
probably benign |
Het |
| Tjp2 |
T |
G |
19: 24,098,204 (GRCm39) |
Y486S |
probably damaging |
Het |
| Tlr13 |
T |
C |
X: 105,200,703 (GRCm39) |
F147L |
probably damaging |
Het |
| Ulk2 |
T |
A |
11: 61,672,465 (GRCm39) |
N958Y |
probably damaging |
Het |
| Unk |
T |
A |
11: 115,940,154 (GRCm39) |
M169K |
probably damaging |
Het |
| Wdr27 |
T |
C |
17: 15,122,031 (GRCm39) |
Y625C |
possibly damaging |
Het |
|
| Other mutations in Or8c9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01363:Or8c9
|
APN |
9 |
38,240,999 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02698:Or8c9
|
APN |
9 |
38,241,506 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03084:Or8c9
|
APN |
9 |
38,241,513 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03355:Or8c9
|
APN |
9 |
38,240,952 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0453:Or8c9
|
UTSW |
9 |
38,241,467 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1584:Or8c9
|
UTSW |
9 |
38,241,427 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1707:Or8c9
|
UTSW |
9 |
38,241,197 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1719:Or8c9
|
UTSW |
9 |
38,241,803 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3409:Or8c9
|
UTSW |
9 |
38,241,640 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4810:Or8c9
|
UTSW |
9 |
38,241,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6271:Or8c9
|
UTSW |
9 |
38,241,578 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6621:Or8c9
|
UTSW |
9 |
38,241,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7220:Or8c9
|
UTSW |
9 |
38,241,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7562:Or8c9
|
UTSW |
9 |
38,241,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7609:Or8c9
|
UTSW |
9 |
38,241,520 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7659:Or8c9
|
UTSW |
9 |
38,241,012 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8375:Or8c9
|
UTSW |
9 |
38,241,231 (GRCm39) |
missense |
probably benign |
|
|
R8465:Or8c9
|
UTSW |
9 |
38,241,410 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
X0019:Or8c9
|
UTSW |
9 |
38,241,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Or8c9
|
UTSW |
9 |
38,241,098 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Posted On |
2014-05-07 |
Incidental Mutation