Incidental Mutation 'IGL03336:Or6c203'
ID |
417024 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or6c203
|
Ensembl Gene |
ENSMUSG00000107662 |
Gene Name |
olfactory receptor family 6 subfamily C member 203 |
Synonyms |
MOR114-3, GA_x6K02T2PULF-10860457-10859522, Olfr772 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
IGL03336
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
129009920-129010923 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 129010098 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 264
(E264G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148854
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169800]
[ENSMUST00000214672]
|
AlphaFold |
Q8VGC5 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122783
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169800
AA Change: E264G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000132389 Gene: ENSMUSG00000107662 AA Change: E264G
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
28 |
307 |
1.6e-47 |
PFAM |
Pfam:7tm_1
|
38 |
287 |
1.1e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214672
AA Change: E264G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
A |
G |
15: 59,888,251 (GRCm39) |
V63A |
probably benign |
Het |
Ankrd11 |
A |
G |
8: 123,618,582 (GRCm39) |
S1757P |
probably benign |
Het |
Atp8a1 |
G |
T |
5: 67,887,150 (GRCm39) |
Y629* |
probably null |
Het |
Cenpf |
T |
C |
1: 189,384,844 (GRCm39) |
K2479E |
probably damaging |
Het |
Clip1 |
G |
T |
5: 123,791,633 (GRCm39) |
S179* |
probably null |
Het |
Cmya5 |
A |
G |
13: 93,230,013 (GRCm39) |
S1692P |
possibly damaging |
Het |
Cyp17a1 |
T |
C |
19: 46,659,474 (GRCm39) |
S119G |
probably benign |
Het |
Fndc5 |
T |
C |
4: 129,033,711 (GRCm39) |
F160L |
probably benign |
Het |
Muc5b |
T |
C |
7: 141,418,100 (GRCm39) |
V3682A |
probably damaging |
Het |
Myh8 |
G |
T |
11: 67,175,528 (GRCm39) |
D328Y |
probably damaging |
Het |
Or10a5 |
T |
A |
7: 106,635,542 (GRCm39) |
M60K |
probably damaging |
Het |
Or4c121 |
T |
C |
2: 89,024,241 (GRCm39) |
T46A |
probably benign |
Het |
Or51f1 |
C |
T |
7: 102,505,823 (GRCm39) |
C222Y |
probably benign |
Het |
Or51k2 |
T |
C |
7: 103,596,616 (GRCm39) |
L281P |
probably damaging |
Het |
Paxbp1 |
T |
C |
16: 90,831,060 (GRCm39) |
I439V |
probably benign |
Het |
Pcdhb3 |
T |
C |
18: 37,436,014 (GRCm39) |
V660A |
possibly damaging |
Het |
Pcyt2 |
T |
C |
11: 120,506,758 (GRCm39) |
D32G |
probably damaging |
Het |
Pdzph1 |
A |
T |
17: 59,281,229 (GRCm39) |
V351D |
probably benign |
Het |
Ribc2 |
C |
T |
15: 85,017,114 (GRCm39) |
Q51* |
probably null |
Het |
Scn2a |
A |
G |
2: 65,519,088 (GRCm39) |
E438G |
probably damaging |
Het |
Slc18a3 |
T |
C |
14: 32,184,785 (GRCm39) |
|
probably benign |
Het |
Slc5a1 |
G |
A |
5: 33,304,287 (GRCm39) |
V296I |
probably benign |
Het |
Slit3 |
A |
T |
11: 35,560,928 (GRCm39) |
T958S |
probably damaging |
Het |
Spag8 |
C |
T |
4: 43,652,114 (GRCm39) |
|
probably benign |
Het |
Susd3 |
A |
C |
13: 49,392,258 (GRCm39) |
S144R |
probably benign |
Het |
Synpo2 |
T |
C |
3: 122,907,828 (GRCm39) |
E496G |
possibly damaging |
Het |
Tbcel |
T |
C |
9: 42,350,427 (GRCm39) |
T269A |
probably benign |
Het |
Tmem156 |
A |
G |
5: 65,233,107 (GRCm39) |
Y152H |
probably benign |
Het |
Tmem247 |
A |
G |
17: 87,225,857 (GRCm39) |
E99G |
probably damaging |
Het |
Tuba3b |
A |
G |
6: 145,565,450 (GRCm39) |
D306G |
possibly damaging |
Het |
Vps13c |
T |
A |
9: 67,858,924 (GRCm39) |
D2791E |
possibly damaging |
Het |
Ypel4 |
A |
G |
2: 84,567,871 (GRCm39) |
Y98C |
probably damaging |
Het |
|
Other mutations in Or6c203 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02512:Or6c203
|
APN |
10 |
129,010,119 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL03072:Or6c203
|
APN |
10 |
129,010,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R1852:Or6c203
|
UTSW |
10 |
129,010,197 (GRCm39) |
missense |
probably benign |
0.00 |
R2496:Or6c203
|
UTSW |
10 |
129,009,966 (GRCm39) |
missense |
probably benign |
0.00 |
R6031:Or6c203
|
UTSW |
10 |
129,010,224 (GRCm39) |
missense |
probably benign |
0.14 |
R6031:Or6c203
|
UTSW |
10 |
129,010,224 (GRCm39) |
missense |
probably benign |
0.14 |
R6168:Or6c203
|
UTSW |
10 |
129,010,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R7454:Or6c203
|
UTSW |
10 |
129,010,324 (GRCm39) |
missense |
probably damaging |
1.00 |
R7669:Or6c203
|
UTSW |
10 |
129,010,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R7905:Or6c203
|
UTSW |
10 |
129,010,056 (GRCm39) |
missense |
probably damaging |
0.99 |
R8307:Or6c203
|
UTSW |
10 |
129,010,101 (GRCm39) |
missense |
probably benign |
0.00 |
R8830:Or6c203
|
UTSW |
10 |
129,010,715 (GRCm39) |
nonsense |
probably null |
|
R9405:Or6c203
|
UTSW |
10 |
129,010,165 (GRCm39) |
missense |
probably benign |
0.08 |
|
Posted On |
2016-08-02 |