Incidental Mutation 'IGL01093:Or6c66'
| ID |
52082 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or6c66
|
| Ensembl Gene |
ENSMUSG00000095002 |
| Gene Name |
olfactory receptor family 6 subfamily C member 66 |
| Synonyms |
GA_x6K02T2PULF-11304679-11303744, MOR108-1, Olfr798 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.171)
|
| Stock # |
IGL01093
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
129460993-129461928 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 129461432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Cysteine
at position 166
(F166C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144716
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079810]
[ENSMUST00000204979]
|
| AlphaFold |
Q7TRH8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079810
AA Change: F166C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078739
Gene: ENSMUSG00000095002
AA Change: F166C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
309 |
5e-52 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
2.1e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203614
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204979
AA Change: F166C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144716
Gene: ENSMUSG00000095002
AA Change: F166C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
309 |
5e-52 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
2.1e-25 |
PFAM |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c21 |
C |
T |
13: 4,631,139 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
A |
G |
18: 65,482,400 (GRCm39) |
L69P |
probably damaging |
Het |
| C3 |
G |
T |
17: 57,530,949 (GRCm39) |
P384Q |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,928,581 (GRCm39) |
E953G |
probably damaging |
Het |
| Dnaaf9 |
T |
C |
2: 130,619,156 (GRCm39) |
T281A |
probably benign |
Het |
| Dnmt1 |
C |
T |
9: 20,821,081 (GRCm39) |
E1269K |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,145,611 (GRCm39) |
R1012G |
probably benign |
Het |
| Fbxw24 |
T |
A |
9: 109,434,041 (GRCm39) |
Q423L |
probably benign |
Het |
| Flg2 |
T |
C |
3: 93,109,678 (GRCm39) |
S569P |
unknown |
Het |
| Ier5 |
A |
G |
1: 154,975,139 (GRCm39) |
I13T |
probably damaging |
Het |
| Kat6a |
A |
G |
8: 23,429,337 (GRCm39) |
D1564G |
possibly damaging |
Het |
| Lcn5 |
T |
C |
2: 25,550,729 (GRCm39) |
V139A |
probably benign |
Het |
| Naca |
A |
G |
10: 127,883,982 (GRCm39) |
S2138G |
probably damaging |
Het |
| Or1j15 |
T |
G |
2: 36,458,838 (GRCm39) |
V76G |
probably damaging |
Het |
| Or5p59 |
T |
A |
7: 107,702,851 (GRCm39) |
S112T |
probably benign |
Het |
| Or5w14 |
T |
G |
2: 87,541,477 (GRCm39) |
M258L |
possibly damaging |
Het |
| Or6c74 |
A |
G |
10: 129,869,761 (GRCm39) |
T89A |
probably benign |
Het |
| Pcdhgb8 |
A |
G |
18: 37,958,089 (GRCm39) |
T813A |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,851,345 (GRCm39) |
T696A |
probably benign |
Het |
| Rif1 |
T |
G |
2: 51,985,960 (GRCm39) |
H648Q |
probably damaging |
Het |
| Secisbp2l |
C |
A |
2: 125,582,245 (GRCm39) |
K1070N |
probably benign |
Het |
| Spock3 |
G |
A |
8: 63,801,993 (GRCm39) |
R327Q |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,768,114 (GRCm39) |
I795T |
probably benign |
Het |
| Ube4b |
T |
C |
4: 149,414,726 (GRCm39) |
I1128V |
probably benign |
Het |
| Vmn1r225 |
A |
T |
17: 20,723,081 (GRCm39) |
D174V |
probably damaging |
Het |
| Xpnpep3 |
T |
A |
15: 81,320,969 (GRCm39) |
Y283N |
possibly damaging |
Het |
| Zfp9 |
C |
T |
6: 118,442,800 (GRCm39) |
A99T |
probably benign |
Het |
| Zfp944 |
A |
G |
17: 22,562,615 (GRCm39) |
|
probably benign |
Het |
| Zscan4c |
G |
A |
7: 10,743,544 (GRCm39) |
C381Y |
probably benign |
Het |
|
| Other mutations in Or6c66 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02866:Or6c66
|
APN |
10 |
129,461,575 (GRCm39) |
nonsense |
probably null |
|
|
BB009:Or6c66
|
UTSW |
10 |
129,461,094 (GRCm39) |
missense |
probably damaging |
0.97 |
|
BB019:Or6c66
|
UTSW |
10 |
129,461,094 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0743:Or6c66
|
UTSW |
10 |
129,461,712 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1163:Or6c66
|
UTSW |
10 |
129,461,516 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1192:Or6c66
|
UTSW |
10 |
129,461,906 (GRCm39) |
missense |
probably benign |
|
|
R1863:Or6c66
|
UTSW |
10 |
129,461,217 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1867:Or6c66
|
UTSW |
10 |
129,461,621 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2508:Or6c66
|
UTSW |
10 |
129,461,784 (GRCm39) |
missense |
probably benign |
|
|
R4898:Or6c66
|
UTSW |
10 |
129,461,468 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4910:Or6c66
|
UTSW |
10 |
129,461,676 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4988:Or6c66
|
UTSW |
10 |
129,461,930 (GRCm39) |
splice site |
probably null |
|
|
R5361:Or6c66
|
UTSW |
10 |
129,461,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5382:Or6c66
|
UTSW |
10 |
129,461,876 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5589:Or6c66
|
UTSW |
10 |
129,461,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5693:Or6c66
|
UTSW |
10 |
129,461,396 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5790:Or6c66
|
UTSW |
10 |
129,461,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6966:Or6c66
|
UTSW |
10 |
129,461,633 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7041:Or6c66
|
UTSW |
10 |
129,461,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7082:Or6c66
|
UTSW |
10 |
129,461,634 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7932:Or6c66
|
UTSW |
10 |
129,461,094 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7977:Or6c66
|
UTSW |
10 |
129,461,838 (GRCm39) |
missense |
probably benign |
|
|
R7987:Or6c66
|
UTSW |
10 |
129,461,838 (GRCm39) |
missense |
probably benign |
|
|
R8299:Or6c66
|
UTSW |
10 |
129,461,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8487:Or6c66
|
UTSW |
10 |
129,461,114 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9110:Or6c66
|
UTSW |
10 |
129,461,820 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Posted On |
2013-06-21 |
Incidental Mutation