Incidental Mutation 'F6893:Or1f19'
| ID |
183 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1f19
|
| Ensembl Gene |
ENSMUSG00000051003 |
| Gene Name |
olfactory receptor family 1 subfamily F member 19 |
| Synonyms |
GA_x54KRFPKG5P-112942-113883, Olfr161, MOR131-1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.304)
|
| Stock # |
F6893 (G3)
of strain
busy
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
3410262-3411203 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3411027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 256
(I256V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061541]
[ENSMUST00000216259]
|
| AlphaFold |
Q8VGB9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061541
AA Change: I256V
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000058956
Gene: ENSMUSG00000051003
AA Change: I256V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
308 |
6.4e-60 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
36 |
220 |
7.2e-6 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
2.9e-25 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216259
AA Change: I256V
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1803 |
| Coding Region Coverage |
|
| Validation Efficiency |
88% (165/188) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
G |
A |
7: 119,924,261 (GRCm39) |
V1638M |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,258,636 (GRCm39) |
R972Q |
probably benign |
Het |
| Anxa3 |
T |
C |
5: 96,972,853 (GRCm39) |
|
probably benign |
Het |
| Bpifa6 |
G |
T |
2: 153,829,078 (GRCm39) |
D202Y |
probably damaging |
Het |
| Ccdc15 |
G |
A |
9: 37,226,936 (GRCm39) |
T346I |
probably damaging |
Homo |
| Celsr3 |
G |
A |
9: 108,712,266 (GRCm39) |
R1731H |
probably benign |
Het |
| Ces4a |
A |
G |
8: 105,873,859 (GRCm39) |
R443G |
possibly damaging |
Het |
| Chd2 |
T |
C |
7: 73,157,620 (GRCm39) |
Q175R |
possibly damaging |
Het |
| Dpyd |
T |
A |
3: 118,597,783 (GRCm39) |
|
probably null |
Het |
| Dscam |
G |
T |
16: 96,857,660 (GRCm39) |
H117N |
possibly damaging |
Het |
| F13a1 |
A |
G |
13: 37,155,999 (GRCm39) |
Y205H |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 15,918,085 (GRCm39) |
L1446R |
probably damaging |
Homo |
| Golga4 |
T |
C |
9: 118,382,525 (GRCm39) |
L515S |
probably damaging |
Het |
| Hoxb1 |
A |
T |
11: 96,256,728 (GRCm39) |
T26S |
probably benign |
Het |
| Igsf10 |
T |
G |
3: 59,238,481 (GRCm39) |
T567P |
probably damaging |
Het |
| Lamb2 |
T |
C |
9: 108,359,755 (GRCm39) |
V365A |
probably benign |
Het |
| Mepe |
A |
G |
5: 104,485,242 (GRCm39) |
I127M |
possibly damaging |
Het |
| Mpi |
A |
T |
9: 57,453,832 (GRCm39) |
M230K |
probably benign |
Homo |
| Myh4 |
A |
G |
11: 67,146,283 (GRCm39) |
D1447G |
probably null |
Homo |
| Or1j4 |
A |
G |
2: 36,740,819 (GRCm39) |
T254A |
probably benign |
Het |
| Panx2 |
T |
C |
15: 88,952,213 (GRCm39) |
Y227H |
probably damaging |
Homo |
| Pdzd7 |
A |
G |
19: 45,025,173 (GRCm39) |
W441R |
probably damaging |
Het |
| Poldip2 |
A |
G |
11: 78,410,020 (GRCm39) |
I267M |
probably damaging |
Homo |
| Pros1 |
T |
A |
16: 62,745,002 (GRCm39) |
V539E |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,450,425 (GRCm39) |
M4157T |
probably benign |
Het |
| Slc45a3 |
A |
G |
1: 131,909,075 (GRCm39) |
E424G |
probably benign |
Homo |
| Slc9a1 |
A |
G |
4: 133,149,457 (GRCm39) |
E761G |
probably benign |
Homo |
| Stab2 |
G |
A |
10: 86,691,035 (GRCm39) |
P2178L |
probably damaging |
Het |
| Syt4 |
C |
T |
18: 31,577,274 (GRCm39) |
V27I |
possibly damaging |
Homo |
| Thumpd1 |
T |
A |
7: 119,319,799 (GRCm39) |
K56* |
probably null |
Het |
| Tpr |
A |
G |
1: 150,269,313 (GRCm39) |
K19E |
possibly damaging |
Homo |
| Ttll10 |
A |
G |
4: 156,132,775 (GRCm39) |
I74T |
probably benign |
Het |
| Txnrd1 |
C |
T |
10: 82,702,823 (GRCm39) |
Q95* |
probably null |
Homo |
| Zc3h7b |
A |
G |
15: 81,662,872 (GRCm39) |
E421G |
possibly damaging |
Homo |
| Zc3hc1 |
G |
T |
6: 30,387,525 (GRCm39) |
D51E |
probably benign |
Homo |
|
| Other mutations in Or1f19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01447:Or1f19
|
APN |
16 |
3,410,848 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL01519:Or1f19
|
APN |
16 |
3,410,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02727:Or1f19
|
APN |
16 |
3,411,190 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03278:Or1f19
|
APN |
16 |
3,410,971 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1634:Or1f19
|
UTSW |
16 |
3,411,073 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2345:Or1f19
|
UTSW |
16 |
3,411,003 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4858:Or1f19
|
UTSW |
16 |
3,410,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4930:Or1f19
|
UTSW |
16 |
3,410,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6774:Or1f19
|
UTSW |
16 |
3,410,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7480:Or1f19
|
UTSW |
16 |
3,410,493 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7712:Or1f19
|
UTSW |
16 |
3,410,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8685:Or1f19
|
UTSW |
16 |
3,410,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9042:Or1f19
|
UTSW |
16 |
3,411,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9084:Or1f19
|
UTSW |
16 |
3,410,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9534:Or1f19
|
UTSW |
16 |
3,410,937 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9561:Or1f19
|
UTSW |
16 |
3,410,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Or1f19
|
UTSW |
16 |
3,410,997 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1176:Or1f19
|
UTSW |
16 |
3,410,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Nature of Mutation |
 DNA sequencing using the SOLiD technique identified an A to G transition at position 766 of the Olfr161 transcript. The mutated nucleotide causes an isoleucine to valine substitution at amino acid 256 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
| Protein Function and Prediction |
The Olfr161 gene encodes the 313 amino acid olfactory receptor 161. Olfactory receptors are G-protein coupled receptors (GPCRs). Like other GPCRs, OLFR161 contains seven transmembrane domains, an extracellular N-terminus, and a cytoplasmic C-terminus (Uniprot Q8VGB9).
The I256V change is predicted to be benign by the PolyPhen program. |
| Posted On |
2010-05-03 |
Incidental Mutation