Incidental Mutation 'IGL01678:Or6c5'
| ID |
103695 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or6c5
|
| Ensembl Gene |
ENSMUSG00000096229 |
| Gene Name |
olfactory receptor family 6 subfamily C member 5 |
| Synonyms |
Olfr774, MOR111-2, GA_x6K02T2PULF-10924432-10925370, MOR111-11 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
IGL01678
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
129074020-129074958 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 129074537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 173
(D173A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145042
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097164]
[ENSMUST00000203248]
|
| AlphaFold |
Q7TRI5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097164
AA Change: D173A
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131609
Gene: ENSMUSG00000096229
AA Change: D173A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
307 |
6e-49 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
2.2e-18 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203248
AA Change: D173A
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000145042
Gene: ENSMUSG00000096229
AA Change: D173A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
307 |
6e-49 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
2.2e-18 |
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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
A |
T |
4: 144,504,443 (GRCm39) |
M236K |
probably benign |
Het |
| Abcc1 |
T |
A |
16: 14,222,883 (GRCm39) |
M186K |
probably null |
Het |
| Adamts3 |
T |
C |
5: 89,855,715 (GRCm39) |
N385S |
probably damaging |
Het |
| Adamts6 |
T |
C |
13: 104,450,196 (GRCm39) |
V299A |
probably damaging |
Het |
| Angel1 |
T |
C |
12: 86,763,800 (GRCm39) |
E500G |
probably benign |
Het |
| Car9 |
T |
C |
4: 43,512,941 (GRCm39) |
|
probably benign |
Het |
| Colec11 |
A |
G |
12: 28,644,867 (GRCm39) |
F209S |
probably damaging |
Het |
| Dnaaf10 |
T |
C |
11: 17,182,790 (GRCm39) |
V317A |
probably benign |
Het |
| Dock10 |
A |
G |
1: 80,521,069 (GRCm39) |
Y1179H |
probably damaging |
Het |
| Ece1 |
T |
A |
4: 137,690,044 (GRCm39) |
W697R |
probably damaging |
Het |
| Eml2 |
T |
A |
7: 18,920,047 (GRCm39) |
M117K |
probably benign |
Het |
| Flii |
G |
T |
11: 60,607,672 (GRCm39) |
|
probably benign |
Het |
| Frmpd1 |
T |
A |
4: 45,243,717 (GRCm39) |
D63E |
probably damaging |
Het |
| Ftmt |
A |
T |
18: 52,465,206 (GRCm39) |
H174L |
probably damaging |
Het |
| Gpr37l1 |
A |
G |
1: 135,094,791 (GRCm39) |
V151A |
probably damaging |
Het |
| Inppl1 |
T |
C |
7: 101,481,803 (GRCm39) |
T180A |
probably benign |
Het |
| Klhdc4 |
T |
C |
8: 122,523,677 (GRCm39) |
D513G |
possibly damaging |
Het |
| Klrb1a |
A |
G |
6: 128,595,411 (GRCm39) |
|
probably benign |
Het |
| Nit1 |
A |
G |
1: 171,170,262 (GRCm39) |
V270A |
probably damaging |
Het |
| Phox2b |
T |
A |
5: 67,256,262 (GRCm39) |
Y8F |
probably damaging |
Het |
| Psg20 |
T |
A |
7: 18,414,795 (GRCm39) |
S364C |
probably damaging |
Het |
| Rab38 |
T |
A |
7: 88,079,740 (GRCm39) |
V44E |
probably damaging |
Het |
| Rapgef4 |
T |
C |
2: 72,072,569 (GRCm39) |
|
probably benign |
Het |
| Ror1 |
C |
T |
4: 100,283,165 (GRCm39) |
P410L |
possibly damaging |
Het |
| Rptn |
A |
G |
3: 93,304,118 (GRCm39) |
N484D |
probably benign |
Het |
| Sirpb1a |
G |
T |
3: 15,476,370 (GRCm39) |
S142R |
probably damaging |
Het |
| Smox |
G |
A |
2: 131,353,979 (GRCm39) |
R17H |
possibly damaging |
Het |
| Top6bl |
T |
A |
19: 4,722,193 (GRCm39) |
I76L |
possibly damaging |
Het |
| Trpm7 |
A |
T |
2: 126,658,719 (GRCm39) |
C1146S |
probably damaging |
Het |
| Upf3a |
C |
T |
8: 13,841,930 (GRCm39) |
A155V |
probably benign |
Het |
| Vmn1r212 |
A |
T |
13: 23,068,081 (GRCm39) |
V84D |
probably damaging |
Het |
| Vmn2r40 |
T |
C |
7: 8,923,105 (GRCm39) |
N419D |
probably damaging |
Het |
| Zfp143 |
C |
A |
7: 109,679,558 (GRCm39) |
|
probably benign |
Het |
| Zmat4 |
T |
A |
8: 24,392,064 (GRCm39) |
C7S |
probably damaging |
Het |
|
| Other mutations in Or6c5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01308:Or6c5
|
APN |
10 |
129,074,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01627:Or6c5
|
APN |
10 |
129,074,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01759:Or6c5
|
APN |
10 |
129,074,941 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03261:Or6c5
|
APN |
10 |
129,074,272 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1996:Or6c5
|
UTSW |
10 |
129,074,298 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2103:Or6c5
|
UTSW |
10 |
129,074,368 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2104:Or6c5
|
UTSW |
10 |
129,074,368 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2330:Or6c5
|
UTSW |
10 |
129,074,908 (GRCm39) |
nonsense |
probably null |
|
|
R3977:Or6c5
|
UTSW |
10 |
129,074,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4544:Or6c5
|
UTSW |
10 |
129,074,027 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6058:Or6c5
|
UTSW |
10 |
129,074,329 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8176:Or6c5
|
UTSW |
10 |
129,074,747 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8708:Or6c5
|
UTSW |
10 |
129,074,678 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9476:Or6c5
|
UTSW |
10 |
129,074,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation