Incidental Mutation 'IGL03121:Or6c68'
| ID |
409963 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or6c68
|
| Ensembl Gene |
ENSMUSG00000049573 |
| Gene Name |
olfactory receptor family 6 subfamily C member 68 |
| Synonyms |
GA_x6K02T2PULF-11002360-11003298, MOR114-12, Olfr780 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.741)
|
| Stock # |
IGL03121
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
129157494-129158432 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129158037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 182
(I182V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149258
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063168]
[ENSMUST00000215503]
|
| AlphaFold |
Q8VEU0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063168
AA Change: I182V
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000054927
Gene: ENSMUSG00000049573
AA Change: I182V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
306 |
1.4e-45 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
9.6e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215503
AA Change: I182V
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B09Rik |
A |
G |
9: 14,672,946 (GRCm39) |
S4P |
possibly damaging |
Het |
| A2m |
A |
G |
6: 121,618,265 (GRCm39) |
N186S |
probably benign |
Het |
| Afg2a |
T |
C |
3: 37,518,800 (GRCm39) |
I778T |
probably damaging |
Het |
| Ago1 |
T |
C |
4: 126,353,796 (GRCm39) |
K261R |
probably benign |
Het |
| Alas1 |
G |
A |
9: 106,124,113 (GRCm39) |
P15L |
probably damaging |
Het |
| Aox1 |
G |
A |
1: 58,398,113 (GRCm39) |
V1285M |
probably damaging |
Het |
| Brd8 |
A |
T |
18: 34,739,740 (GRCm39) |
F678I |
probably damaging |
Het |
| Col27a1 |
T |
A |
4: 63,143,446 (GRCm39) |
M378K |
probably benign |
Het |
| Dpy19l4 |
C |
A |
4: 11,303,334 (GRCm39) |
V196F |
probably damaging |
Het |
| Dst |
G |
T |
1: 34,256,884 (GRCm39) |
|
probably benign |
Het |
| Hsd17b1 |
T |
A |
11: 100,970,870 (GRCm39) |
Y275* |
probably null |
Het |
| Kdm3b |
A |
G |
18: 34,928,762 (GRCm39) |
E171G |
probably damaging |
Het |
| Klc1 |
T |
C |
12: 111,748,076 (GRCm39) |
|
probably benign |
Het |
| Mlkl |
G |
A |
8: 112,041,612 (GRCm39) |
R443W |
probably damaging |
Het |
| Mov10 |
A |
T |
3: 104,708,318 (GRCm39) |
V477E |
probably benign |
Het |
| Nacad |
A |
G |
11: 6,550,933 (GRCm39) |
S753P |
probably damaging |
Het |
| Ncapd2 |
A |
C |
6: 125,150,575 (GRCm39) |
M842R |
probably benign |
Het |
| Nkd2 |
C |
A |
13: 73,969,498 (GRCm39) |
A311S |
probably benign |
Het |
| Nrg1 |
A |
G |
8: 32,314,608 (GRCm39) |
|
probably benign |
Het |
| Or4f6 |
A |
G |
2: 111,838,953 (GRCm39) |
Y193H |
probably benign |
Het |
| Pde6h |
A |
G |
6: 136,936,280 (GRCm39) |
S8G |
probably null |
Het |
| Pik3c2b |
A |
G |
1: 133,007,483 (GRCm39) |
K616E |
probably benign |
Het |
| Pnpt1 |
A |
T |
11: 29,082,845 (GRCm39) |
R54S |
probably benign |
Het |
| Pramel38 |
T |
C |
5: 94,368,912 (GRCm39) |
V469A |
possibly damaging |
Het |
| Rttn |
A |
G |
18: 88,993,875 (GRCm39) |
D184G |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,574,284 (GRCm39) |
I756F |
unknown |
Het |
| Slc24a2 |
T |
C |
4: 87,145,143 (GRCm39) |
T304A |
probably benign |
Het |
| Stk3 |
A |
T |
15: 35,099,572 (GRCm39) |
|
probably benign |
Het |
| Trim69 |
A |
G |
2: 121,998,128 (GRCm39) |
I33M |
probably benign |
Het |
| Ube2q2 |
A |
T |
9: 55,102,323 (GRCm39) |
|
probably benign |
Het |
| Vmn1r67 |
T |
A |
7: 10,181,394 (GRCm39) |
N158K |
probably benign |
Het |
| Wipi2 |
G |
A |
5: 142,648,857 (GRCm39) |
E252K |
probably benign |
Het |
|
| Other mutations in Or6c68 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01867:Or6c68
|
APN |
10 |
129,157,585 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02817:Or6c68
|
APN |
10 |
129,157,764 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03396:Or6c68
|
APN |
10 |
129,157,916 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0586:Or6c68
|
UTSW |
10 |
129,157,916 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0601:Or6c68
|
UTSW |
10 |
129,157,885 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1957:Or6c68
|
UTSW |
10 |
129,157,740 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3915:Or6c68
|
UTSW |
10 |
129,158,178 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4419:Or6c68
|
UTSW |
10 |
129,157,684 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5383:Or6c68
|
UTSW |
10 |
129,158,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Or6c68
|
UTSW |
10 |
129,158,238 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6030:Or6c68
|
UTSW |
10 |
129,158,238 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6762:Or6c68
|
UTSW |
10 |
129,158,125 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7259:Or6c68
|
UTSW |
10 |
129,157,663 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7575:Or6c68
|
UTSW |
10 |
129,157,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7904:Or6c68
|
UTSW |
10 |
129,157,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8933:Or6c68
|
UTSW |
10 |
129,158,259 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9130:Or6c68
|
UTSW |
10 |
129,157,897 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9529:Or6c68
|
UTSW |
10 |
129,158,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Or6c68
|
UTSW |
10 |
129,158,088 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Posted On |
2016-08-02 |
Incidental Mutation