Incidental Mutation 'IGL01884:Or6c76'
| ID |
179069 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or6c76
|
| Ensembl Gene |
ENSMUSG00000050251 |
| Gene Name |
olfactory receptor family 6 subfamily C member 76 |
| Synonyms |
GA_x6K02T2PULF-11454600-11455541, Olfr809, MOR108-4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL01884
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
129611740-129612726 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129612697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 320
(K320E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151711
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059891]
[ENSMUST00000203598]
[ENSMUST00000204622]
[ENSMUST00000218237]
|
| AlphaFold |
Q8VEX8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059891
AA Change: K305E
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000054949
Gene: ENSMUSG00000050251
AA Change: K305E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
44 |
321 |
3.5e-49 |
PFAM |
|
Pfam:7tm_1
|
54 |
303 |
1.3e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203598
|
| SMART Domains |
Protein: ENSMUSP00000145037
Gene: ENSMUSG00000050251
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
148 |
8.1e-20 |
PFAM |
|
Pfam:7tm_1
|
39 |
149 |
1.8e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204622
AA Change: K320E
|
| SMART Domains |
Protein: ENSMUSP00000145260
Gene: ENSMUSG00000052818
AA Change: K320E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
44 |
321 |
3.5e-49 |
PFAM |
|
Pfam:7tm_1
|
54 |
303 |
1.3e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218237
AA Change: K320E
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1190005I06Rik |
G |
A |
8: 121,335,774 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
G |
A |
3: 113,860,191 (GRCm39) |
G206R |
unknown |
Het |
| Cyp2e1 |
T |
C |
7: 140,353,663 (GRCm39) |
Y426H |
probably benign |
Het |
| Fcrl1 |
A |
G |
3: 87,292,044 (GRCm39) |
K68E |
probably damaging |
Het |
| Gabbr2 |
A |
G |
4: 46,875,711 (GRCm39) |
V137A |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hacd1 |
G |
A |
2: 14,040,593 (GRCm39) |
P221S |
probably damaging |
Het |
| Kndc1 |
C |
T |
7: 139,494,110 (GRCm39) |
T535I |
probably damaging |
Het |
| Lce1f |
G |
T |
3: 92,626,608 (GRCm39) |
C16* |
probably null |
Het |
| Lrba |
C |
T |
3: 86,217,719 (GRCm39) |
A543V |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 41,174,225 (GRCm39) |
C676* |
probably null |
Het |
| Mocos |
A |
G |
18: 24,816,273 (GRCm39) |
K617E |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,421,820 (GRCm39) |
|
probably benign |
Het |
| Mylk |
A |
T |
16: 34,809,247 (GRCm39) |
|
probably benign |
Het |
| Naip2 |
A |
G |
13: 100,325,329 (GRCm39) |
|
probably benign |
Het |
| Pcdhb5 |
C |
T |
18: 37,454,387 (GRCm39) |
P256S |
probably benign |
Het |
| Rbl2 |
A |
G |
8: 91,823,464 (GRCm39) |
E464G |
probably damaging |
Het |
| Rfc1 |
A |
T |
5: 65,431,803 (GRCm39) |
L769Q |
possibly damaging |
Het |
| Setd7 |
T |
C |
3: 51,450,132 (GRCm39) |
Y98C |
possibly damaging |
Het |
| Tbc1d8 |
A |
G |
1: 39,415,526 (GRCm39) |
Y920H |
probably damaging |
Het |
| Tcte1 |
T |
C |
17: 45,850,735 (GRCm39) |
|
probably null |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Or6c76 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02000:Or6c76
|
APN |
10 |
129,611,938 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02146:Or6c76
|
APN |
10 |
129,612,727 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03087:Or6c76
|
APN |
10 |
129,612,130 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03260:Or6c76
|
APN |
10 |
129,612,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1Funyon:Or6c76
|
UTSW |
10 |
129,612,709 (GRCm39) |
missense |
probably benign |
0.06 |
|
PIT4466001:Or6c76
|
UTSW |
10 |
129,612,142 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0564:Or6c76
|
UTSW |
10 |
129,612,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0613:Or6c76
|
UTSW |
10 |
129,612,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1165:Or6c76
|
UTSW |
10 |
129,612,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1556:Or6c76
|
UTSW |
10 |
129,612,242 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5392:Or6c76
|
UTSW |
10 |
129,612,184 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6665:Or6c76
|
UTSW |
10 |
129,612,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7519:Or6c76
|
UTSW |
10 |
129,612,091 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7804:Or6c76
|
UTSW |
10 |
129,612,091 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8022:Or6c76
|
UTSW |
10 |
129,612,654 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8301:Or6c76
|
UTSW |
10 |
129,612,709 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8447:Or6c76
|
UTSW |
10 |
129,612,371 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9104:Or6c76
|
UTSW |
10 |
129,612,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9216:Or6c76
|
UTSW |
10 |
129,611,796 (GRCm39) |
missense |
probably benign |
|
|
R9679:Or6c76
|
UTSW |
10 |
129,611,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9720:Or6c76
|
UTSW |
10 |
129,612,581 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1176:Or6c76
|
UTSW |
10 |
129,611,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation