Incidental Mutation 'IGL02279:Or8c16'
| ID |
289780 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or8c16
|
| Ensembl Gene |
ENSMUSG00000070311 |
| Gene Name |
olfactory receptor family 8 subfamily C member 16 |
| Synonyms |
Olfr894, MOR170-5, GA_x6K02T2PVTD-31898993-31899934 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
IGL02279
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
38130114-38131062 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38130389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 90
(V90A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093866]
[ENSMUST00000212992]
|
| AlphaFold |
Q9EQB2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093866
AA Change: V90A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000091389
Gene: ENSMUSG00000070311
AA Change: V90A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
310 |
8.8e-47 |
PFAM |
|
Pfam:7tm_1
|
44 |
293 |
1.1e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212992
AA Change: V87A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
T |
C |
8: 124,681,100 (GRCm39) |
S699G |
probably benign |
Het |
| Ak2 |
C |
T |
4: 128,893,030 (GRCm39) |
A63V |
probably benign |
Het |
| Bckdha |
T |
C |
7: 25,330,534 (GRCm39) |
Y354C |
probably damaging |
Het |
| Ess2 |
T |
C |
16: 17,720,775 (GRCm39) |
E357G |
possibly damaging |
Het |
| Fmod |
T |
A |
1: 133,968,235 (GRCm39) |
C92S |
probably damaging |
Het |
| Gdpd1 |
T |
C |
11: 86,964,727 (GRCm39) |
Y26C |
probably benign |
Het |
| Gpr45 |
T |
C |
1: 43,071,998 (GRCm39) |
S214P |
probably damaging |
Het |
| Lmod3 |
A |
G |
6: 97,224,633 (GRCm39) |
V396A |
probably damaging |
Het |
| Lpcat3 |
A |
G |
6: 124,675,072 (GRCm39) |
Y64C |
probably damaging |
Het |
| Nrdc |
T |
A |
4: 108,881,391 (GRCm39) |
|
probably benign |
Het |
| Or5i1 |
C |
T |
2: 87,613,576 (GRCm39) |
R231C |
probably damaging |
Het |
| Or6n2 |
T |
A |
1: 173,896,957 (GRCm39) |
L31Q |
probably null |
Het |
| Pcnt |
T |
C |
10: 76,239,599 (GRCm39) |
D1296G |
probably damaging |
Het |
| Pitpnm1 |
T |
A |
19: 4,151,207 (GRCm39) |
I8N |
probably damaging |
Het |
| Sel1l |
T |
C |
12: 91,781,771 (GRCm39) |
N538S |
probably damaging |
Het |
| Srrm2 |
T |
G |
17: 24,034,306 (GRCm39) |
|
probably benign |
Het |
| Svs3b |
G |
T |
2: 164,098,124 (GRCm39) |
Q66K |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,640,634 (GRCm39) |
K11959* |
probably null |
Het |
|
| Other mutations in Or8c16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01099:Or8c16
|
APN |
9 |
38,131,039 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01772:Or8c16
|
APN |
9 |
38,130,905 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02253:Or8c16
|
APN |
9 |
38,131,031 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03031:Or8c16
|
APN |
9 |
38,130,361 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03163:Or8c16
|
APN |
9 |
38,130,710 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0417:Or8c16
|
UTSW |
9 |
38,130,751 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0458:Or8c16
|
UTSW |
9 |
38,130,344 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1498:Or8c16
|
UTSW |
9 |
38,130,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1765:Or8c16
|
UTSW |
9 |
38,130,548 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2020:Or8c16
|
UTSW |
9 |
38,130,728 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2282:Or8c16
|
UTSW |
9 |
38,130,124 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3928:Or8c16
|
UTSW |
9 |
38,130,131 (GRCm39) |
start codon destroyed |
probably null |
0.63 |
|
R4716:Or8c16
|
UTSW |
9 |
38,130,714 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4911:Or8c16
|
UTSW |
9 |
38,130,392 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5148:Or8c16
|
UTSW |
9 |
38,130,317 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7677:Or8c16
|
UTSW |
9 |
38,130,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7971:Or8c16
|
UTSW |
9 |
38,130,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8219:Or8c16
|
UTSW |
9 |
38,130,668 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8754:Or8c16
|
UTSW |
9 |
38,130,865 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9248:Or8c16
|
UTSW |
9 |
38,130,706 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9256:Or8c16
|
UTSW |
9 |
38,130,498 (GRCm39) |
nonsense |
probably null |
|
|
R9352:Or8c16
|
UTSW |
9 |
38,130,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9593:Or8c16
|
UTSW |
9 |
38,130,868 (GRCm39) |
missense |
probably benign |
0.20 |
|
X0050:Or8c16
|
UTSW |
9 |
38,130,446 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation