Incidental Mutation 'IGL01387:Or6c33'
| ID |
79079 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or6c33
|
| Ensembl Gene |
ENSMUSG00000048745 |
| Gene Name |
olfactory receptor family 6 subfamily C member 33 |
| Synonyms |
GA_x6K02T2PULF-11688441-11689379, Olfr820, MOR116-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL01387
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
129853232-129854170 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 129853710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 160
(M160K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059244]
[ENSMUST00000214917]
[ENSMUST00000215791]
|
| AlphaFold |
Q8VFU5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059244
AA Change: M160K
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000052995
Gene: ENSMUSG00000048745
AA Change: M160K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
1e-47 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
1.8e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214917
AA Change: M160K
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215791
AA Change: M160K
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| 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 |
|---|
| Abca7 |
T |
C |
10: 79,835,596 (GRCm39) |
I288T |
possibly damaging |
Het |
| Akr1c13 |
T |
A |
13: 4,247,794 (GRCm39) |
|
probably null |
Het |
| Ano2 |
T |
C |
6: 125,990,240 (GRCm39) |
L787P |
probably damaging |
Het |
| Arf4 |
A |
T |
14: 26,374,300 (GRCm39) |
I73F |
possibly damaging |
Het |
| Atp6v1e1 |
A |
G |
6: 120,772,732 (GRCm39) |
|
probably null |
Het |
| Ccdc9 |
A |
C |
7: 16,018,424 (GRCm39) |
M1R |
probably null |
Het |
| Cep162 |
A |
G |
9: 87,093,864 (GRCm39) |
L838S |
probably benign |
Het |
| Cfap251 |
T |
A |
5: 123,421,609 (GRCm39) |
I654N |
probably damaging |
Het |
| Cfi |
T |
A |
3: 129,668,562 (GRCm39) |
|
probably benign |
Het |
| Creb3l3 |
T |
C |
10: 80,927,110 (GRCm39) |
T107A |
probably benign |
Het |
| Erlin2 |
T |
C |
8: 27,526,576 (GRCm39) |
L312P |
probably benign |
Het |
| Etv1 |
T |
G |
12: 38,911,326 (GRCm39) |
M384R |
probably damaging |
Het |
| Exph5 |
G |
T |
9: 53,285,265 (GRCm39) |
S782I |
possibly damaging |
Het |
| Fsd1 |
C |
T |
17: 56,303,733 (GRCm39) |
S491F |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,823,326 (GRCm39) |
N6353S |
possibly damaging |
Het |
| Gk5 |
T |
C |
9: 96,059,607 (GRCm39) |
|
probably null |
Het |
| Gm11168 |
T |
G |
9: 3,005,128 (GRCm39) |
S202R |
possibly damaging |
Het |
| Hdlbp |
T |
C |
1: 93,341,310 (GRCm39) |
D1016G |
possibly damaging |
Het |
| Kpna4 |
A |
G |
3: 69,009,590 (GRCm39) |
|
probably benign |
Het |
| Lrrn2 |
T |
C |
1: 132,866,096 (GRCm39) |
V387A |
possibly damaging |
Het |
| Or4a76 |
T |
A |
2: 89,460,964 (GRCm39) |
R93* |
probably null |
Het |
| Or5bw2 |
A |
G |
7: 6,573,854 (GRCm39) |
Y288C |
probably damaging |
Het |
| Or8g23 |
A |
G |
9: 38,971,617 (GRCm39) |
L115S |
probably damaging |
Het |
| Or8k37 |
T |
C |
2: 86,469,594 (GRCm39) |
T153A |
probably benign |
Het |
| Plekhs1 |
A |
G |
19: 56,459,403 (GRCm39) |
Q51R |
probably benign |
Het |
| Rab27b |
T |
A |
18: 70,118,380 (GRCm39) |
D179V |
possibly damaging |
Het |
| Rprd2 |
C |
T |
3: 95,672,631 (GRCm39) |
R924H |
probably benign |
Het |
| Shprh |
T |
C |
10: 11,045,998 (GRCm39) |
I905T |
probably damaging |
Het |
| Trpm8 |
T |
C |
1: 88,271,009 (GRCm39) |
L433P |
probably damaging |
Het |
| Urb1 |
A |
G |
16: 90,554,649 (GRCm39) |
L1861S |
possibly damaging |
Het |
| Vmn2r124 |
C |
A |
17: 18,283,188 (GRCm39) |
T294K |
probably damaging |
Het |
| Znrf3 |
A |
T |
11: 5,288,656 (GRCm39) |
C37* |
probably null |
Het |
|
| Other mutations in Or6c33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01938:Or6c33
|
APN |
10 |
129,853,981 (GRCm39) |
nonsense |
probably null |
|
|
IGL02369:Or6c33
|
APN |
10 |
129,853,425 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0378:Or6c33
|
UTSW |
10 |
129,853,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0437:Or6c33
|
UTSW |
10 |
129,853,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0648:Or6c33
|
UTSW |
10 |
129,853,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1891:Or6c33
|
UTSW |
10 |
129,853,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2187:Or6c33
|
UTSW |
10 |
129,853,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4190:Or6c33
|
UTSW |
10 |
129,853,847 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4730:Or6c33
|
UTSW |
10 |
129,853,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6380:Or6c33
|
UTSW |
10 |
129,853,782 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6496:Or6c33
|
UTSW |
10 |
129,853,448 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7198:Or6c33
|
UTSW |
10 |
129,853,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7667:Or6c33
|
UTSW |
10 |
129,853,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7762:Or6c33
|
UTSW |
10 |
129,853,050 (GRCm39) |
intron |
probably benign |
|
|
R7823:Or6c33
|
UTSW |
10 |
129,854,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8472:Or6c33
|
UTSW |
10 |
129,853,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8931:Or6c33
|
UTSW |
10 |
129,853,769 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9536:Or6c33
|
UTSW |
10 |
129,853,345 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9563:Or6c33
|
UTSW |
10 |
129,853,287 (GRCm39) |
missense |
probably benign |
|
|
R9564:Or6c33
|
UTSW |
10 |
129,853,287 (GRCm39) |
missense |
probably benign |
|
|
R9565:Or6c33
|
UTSW |
10 |
129,853,287 (GRCm39) |
missense |
probably benign |
|
|
R9624:Or6c33
|
UTSW |
10 |
129,853,866 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9630:Or6c33
|
UTSW |
10 |
129,853,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9652:Or6c33
|
UTSW |
10 |
129,853,809 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1177:Or6c33
|
UTSW |
10 |
129,853,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-05 |
Incidental Mutation