Incidental Mutation 'IGL02035:Or6c216'
| ID |
184483 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or6c216
|
| Ensembl Gene |
ENSMUSG00000049052 |
| Gene Name |
olfactory receptor family 6 subfamily C member 216 |
| Synonyms |
GA_x6K02T2PULF-11521598-11520666, Olfr812, MOR110-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
IGL02035
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
129677977-129678909 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129678659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 84
(L84P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057775]
[ENSMUST00000203571]
[ENSMUST00000205013]
|
| AlphaFold |
Q8VG64 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057775
AA Change: L84P
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000053359
Gene: ENSMUSG00000049052
AA Change: L84P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
2.3e-50 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
9.5e-25 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203571
AA Change: L84P
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000145284
Gene: ENSMUSG00000049052
AA Change: L84P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
2.3e-50 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
9.5e-25 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205013
AA Change: L84P
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000145482
Gene: ENSMUSG00000049052
AA Change: L84P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
307 |
1.3e-44 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
4.1e-23 |
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 |
|---|
| Ahctf1 |
A |
T |
1: 179,593,579 (GRCm39) |
I1135N |
probably benign |
Het |
| Atl1 |
A |
G |
12: 70,007,318 (GRCm39) |
|
probably benign |
Het |
| Atr |
A |
G |
9: 95,748,735 (GRCm39) |
N427D |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,091,375 (GRCm39) |
|
probably null |
Het |
| Cnot4 |
A |
T |
6: 35,047,186 (GRCm39) |
V142D |
probably damaging |
Het |
| Ctnnd1 |
A |
T |
2: 84,450,425 (GRCm39) |
V265E |
probably damaging |
Het |
| Ddx27 |
G |
T |
2: 166,871,432 (GRCm39) |
V510F |
probably benign |
Het |
| Elac2 |
A |
G |
11: 64,892,661 (GRCm39) |
S822G |
probably benign |
Het |
| Fat3 |
A |
T |
9: 16,289,266 (GRCm39) |
F86I |
probably benign |
Het |
| Fbn1 |
T |
A |
2: 125,177,282 (GRCm39) |
|
probably null |
Het |
| Fgd4 |
C |
T |
16: 16,308,280 (GRCm39) |
|
probably benign |
Het |
| Furin |
T |
C |
7: 80,040,735 (GRCm39) |
E701G |
probably benign |
Het |
| Fzd2 |
A |
G |
11: 102,497,270 (GRCm39) |
*571W |
probably null |
Het |
| Gm9 |
A |
T |
X: 36,474,544 (GRCm39) |
H3Q |
probably benign |
Het |
| Jak2 |
T |
C |
19: 29,263,808 (GRCm39) |
V441A |
probably benign |
Het |
| Kcnj3 |
T |
A |
2: 55,327,590 (GRCm39) |
N126K |
probably damaging |
Het |
| Lca5 |
T |
C |
9: 83,305,365 (GRCm39) |
E147G |
probably damaging |
Het |
| Magt1 |
G |
T |
X: 105,027,382 (GRCm39) |
|
probably null |
Het |
| Nkx6-2 |
A |
T |
7: 139,161,601 (GRCm39) |
W195R |
probably damaging |
Het |
| Nt5c1a |
A |
T |
4: 123,107,895 (GRCm39) |
S193C |
possibly damaging |
Het |
| Os9 |
G |
A |
10: 126,932,160 (GRCm39) |
P604S |
possibly damaging |
Het |
| Pecam1 |
C |
T |
11: 106,586,685 (GRCm39) |
A277T |
probably benign |
Het |
| Polr1c |
A |
G |
17: 46,557,085 (GRCm39) |
V66A |
possibly damaging |
Het |
| Proser1 |
T |
C |
3: 53,386,251 (GRCm39) |
V711A |
probably benign |
Het |
| Prr35 |
G |
T |
17: 26,166,136 (GRCm39) |
H384N |
probably benign |
Het |
| Sbp |
A |
G |
17: 24,161,586 (GRCm39) |
N19S |
possibly damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,071,412 (GRCm39) |
T87A |
probably benign |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,208 (GRCm39) |
I184N |
possibly damaging |
Het |
| Zcchc14 |
T |
C |
8: 122,331,354 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or6c216 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Or6c216
|
APN |
10 |
129,678,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01637:Or6c216
|
APN |
10 |
129,678,479 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02546:Or6c216
|
APN |
10 |
129,678,416 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1902:Or6c216
|
UTSW |
10 |
129,678,375 (GRCm39) |
missense |
probably benign |
|
|
R4583:Or6c216
|
UTSW |
10 |
129,678,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4598:Or6c216
|
UTSW |
10 |
129,678,864 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4714:Or6c216
|
UTSW |
10 |
129,678,814 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5196:Or6c216
|
UTSW |
10 |
129,678,650 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5953:Or6c216
|
UTSW |
10 |
129,678,483 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6311:Or6c216
|
UTSW |
10 |
129,678,776 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6356:Or6c216
|
UTSW |
10 |
129,678,477 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6499:Or6c216
|
UTSW |
10 |
129,678,453 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9149:Or6c216
|
UTSW |
10 |
129,678,482 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9606:Or6c216
|
UTSW |
10 |
129,678,625 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation