Incidental Mutation 'IGL03309:Or6c6'
ID |
416477 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or6c6
|
Ensembl Gene |
ENSMUSG00000095075 |
Gene Name |
olfactory receptor family 6 subfamily C member 6 |
Synonyms |
MOR110-8, GA_x6K02T2PULF-11031172-11032116, Olfr782 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
IGL03309
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
129186434-129187378 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 129187178 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 249
(T249S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150951
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077024]
[ENSMUST00000213970]
|
AlphaFold |
Q7TRI2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077024
AA Change: T249S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000076282 Gene: ENSMUSG00000095075 AA Change: T249S
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
29 |
306 |
1e-48 |
PFAM |
Pfam:7tm_1
|
39 |
288 |
8.5e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213970
AA Change: T249S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadac |
A |
G |
3: 59,947,303 (GRCm39) |
T334A |
possibly damaging |
Het |
Armc9 |
A |
G |
1: 86,202,155 (GRCm39) |
E771G |
possibly damaging |
Het |
Cd207 |
G |
T |
6: 83,654,735 (GRCm39) |
T16K |
possibly damaging |
Het |
Cd44 |
C |
T |
2: 102,644,522 (GRCm39) |
E421K |
probably damaging |
Het |
Cfap221 |
A |
G |
1: 119,862,331 (GRCm39) |
Y584H |
probably damaging |
Het |
Clock |
A |
G |
5: 76,379,241 (GRCm39) |
|
probably null |
Het |
Clpx |
T |
G |
9: 65,229,974 (GRCm39) |
L474R |
probably damaging |
Het |
Cntd1 |
T |
C |
11: 101,175,590 (GRCm39) |
V143A |
probably damaging |
Het |
Cttnbp2 |
A |
G |
6: 18,381,035 (GRCm39) |
V877A |
probably damaging |
Het |
Dlx6 |
G |
T |
6: 6,867,289 (GRCm39) |
M158I |
possibly damaging |
Het |
Fank1 |
A |
G |
7: 133,463,902 (GRCm39) |
T33A |
probably damaging |
Het |
Fbf1 |
A |
G |
11: 116,038,637 (GRCm39) |
L828P |
probably damaging |
Het |
Fh1 |
A |
T |
1: 175,431,609 (GRCm39) |
S426T |
probably benign |
Het |
Gabrg3 |
G |
T |
7: 56,632,433 (GRCm39) |
Q172K |
probably damaging |
Het |
Glipr1l1 |
A |
G |
10: 111,908,141 (GRCm39) |
|
probably benign |
Het |
Hypk |
T |
A |
2: 121,288,673 (GRCm39) |
L113* |
probably null |
Het |
Hypk |
G |
T |
2: 121,288,674 (GRCm39) |
L113F |
probably damaging |
Het |
Ipo5 |
G |
A |
14: 121,157,416 (GRCm39) |
V85I |
probably benign |
Het |
Kif1a |
A |
T |
1: 92,986,579 (GRCm39) |
Y575* |
probably null |
Het |
Morf4l1 |
T |
A |
9: 89,985,798 (GRCm39) |
E60V |
probably benign |
Het |
Or52ac1 |
A |
G |
7: 104,246,248 (GRCm39) |
F47L |
probably benign |
Het |
Parp4 |
A |
T |
14: 56,825,265 (GRCm39) |
T130S |
probably benign |
Het |
Prkd1 |
A |
G |
12: 50,435,207 (GRCm39) |
Y507H |
probably damaging |
Het |
Psme2b |
A |
C |
11: 48,836,626 (GRCm39) |
|
probably null |
Het |
Rbm44 |
T |
C |
1: 91,096,562 (GRCm39) |
|
probably null |
Het |
Rngtt |
C |
A |
4: 33,339,091 (GRCm39) |
R299S |
probably damaging |
Het |
Ros1 |
A |
G |
10: 51,994,357 (GRCm39) |
S1308P |
possibly damaging |
Het |
Rpl3l |
A |
G |
17: 24,954,998 (GRCm39) |
K398E |
possibly damaging |
Het |
Scube3 |
C |
T |
17: 28,383,331 (GRCm39) |
R374* |
probably null |
Het |
Srcap |
A |
G |
7: 127,129,965 (GRCm39) |
T616A |
probably damaging |
Het |
Stk3 |
G |
A |
15: 35,099,697 (GRCm39) |
|
probably benign |
Het |
Tas2r124 |
A |
T |
6: 132,731,898 (GRCm39) |
D69V |
probably benign |
Het |
Zbtb41 |
T |
A |
1: 139,359,816 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Or6c6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01286:Or6c6
|
APN |
10 |
129,186,519 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01469:Or6c6
|
APN |
10 |
129,186,449 (GRCm39) |
missense |
probably benign |
|
IGL01980:Or6c6
|
APN |
10 |
129,187,386 (GRCm39) |
utr 3 prime |
probably benign |
|
R0449:Or6c6
|
UTSW |
10 |
129,187,103 (GRCm39) |
missense |
probably benign |
0.00 |
R1994:Or6c6
|
UTSW |
10 |
129,186,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R3121:Or6c6
|
UTSW |
10 |
129,186,552 (GRCm39) |
missense |
possibly damaging |
0.74 |
R6421:Or6c6
|
UTSW |
10 |
129,187,370 (GRCm39) |
nonsense |
probably null |
|
R7268:Or6c6
|
UTSW |
10 |
129,187,263 (GRCm39) |
missense |
possibly damaging |
0.60 |
R7399:Or6c6
|
UTSW |
10 |
129,186,426 (GRCm39) |
start gained |
probably benign |
|
R7647:Or6c6
|
UTSW |
10 |
129,187,326 (GRCm39) |
missense |
probably benign |
|
R8384:Or6c6
|
UTSW |
10 |
129,186,695 (GRCm39) |
nonsense |
probably null |
|
R8795:Or6c6
|
UTSW |
10 |
129,187,194 (GRCm39) |
missense |
probably damaging |
0.99 |
R9224:Or6c6
|
UTSW |
10 |
129,186,450 (GRCm39) |
missense |
probably benign |
|
R9375:Or6c6
|
UTSW |
10 |
129,186,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R9478:Or6c6
|
UTSW |
10 |
129,186,960 (GRCm39) |
missense |
possibly damaging |
0.70 |
X0027:Or6c6
|
UTSW |
10 |
129,187,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |