Incidental Mutation 'I2289:Or5bw2'
| ID |
604 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5bw2
|
| Ensembl Gene |
ENSMUSG00000056696 |
| Gene Name |
olfactory receptor family 5 subfamily BW member 2 |
| Synonyms |
GA_x6K02T2QGBW-3300391-3301317, MOR222-3, Olfr1350 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
I2289 (G3)
of strain
633
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
6572992-6573918 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 6573818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 276
(Y276F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151318
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070985]
[ENSMUST00000207221]
[ENSMUST00000219278]
|
| AlphaFold |
Q8VF34 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070985
AA Change: Y276F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069927
Gene: ENSMUSG00000056696
AA Change: Y276F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
305 |
1.6e-50 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
8.2e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207221
AA Change: Y276F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219278
AA Change: Y276F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
|
| Het Detection Efficiency |
55.8% |
| Validation Efficiency |
88% (46/52) |
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
T |
A |
15: 11,071,894 (GRCm39) |
L146Q |
probably benign |
Homo |
| Adgrv1 |
A |
G |
13: 81,585,643 (GRCm39) |
L4607P |
probably damaging |
Het |
| Amelx |
A |
G |
X: 167,961,009 (GRCm39) |
|
probably null |
Homo |
| Ankfy1 |
A |
G |
11: 72,621,311 (GRCm39) |
K199R |
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,243,478 (GRCm39) |
K1024E |
probably damaging |
Het |
| Bank1 |
T |
A |
3: 135,760,179 (GRCm39) |
D782V |
probably damaging |
Homo |
| Csmd1 |
A |
T |
8: 15,962,381 (GRCm39) |
I3271K |
probably benign |
Homo |
| Fat1 |
A |
G |
8: 45,478,033 (GRCm39) |
I2360V |
probably benign |
Homo |
| Gldc |
G |
A |
19: 30,124,576 (GRCm39) |
R241* |
probably null |
Het |
| Golgb1 |
A |
G |
16: 36,718,904 (GRCm39) |
H270R |
probably benign |
Het |
| Heg1 |
T |
C |
16: 33,583,829 (GRCm39) |
I1212T |
probably damaging |
Het |
| Hes1 |
T |
A |
16: 29,884,699 (GRCm39) |
S53R |
probably damaging |
Het |
| Ibsp |
G |
A |
5: 104,450,353 (GRCm39) |
R57Q |
possibly damaging |
Homo |
| Lrp1b |
A |
T |
2: 41,012,944 (GRCm39) |
I2001K |
probably damaging |
Het |
| Nf1 |
G |
A |
11: 79,438,602 (GRCm39) |
R2181H |
probably damaging |
Het |
| Nrcam |
C |
A |
12: 44,611,098 (GRCm39) |
H567Q |
probably benign |
Homo |
| Or51a10 |
T |
C |
7: 103,698,961 (GRCm39) |
Y200C |
probably damaging |
Homo |
| Rraga |
T |
C |
4: 86,494,522 (GRCm39) |
F123L |
probably damaging |
Het |
| Spam1 |
A |
G |
6: 24,796,477 (GRCm39) |
I143V |
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,072,542 (GRCm39) |
|
probably benign |
Homo |
| T |
A |
T |
17: 8,657,474 (GRCm39) |
T112S |
probably benign |
Homo |
|
| Other mutations in Or5bw2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00330:Or5bw2
|
APN |
7 |
6,573,667 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01387:Or5bw2
|
APN |
7 |
6,573,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01457:Or5bw2
|
APN |
7 |
6,573,211 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01568:Or5bw2
|
APN |
7 |
6,573,569 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
I2288:Or5bw2
|
UTSW |
7 |
6,573,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0454:Or5bw2
|
UTSW |
7 |
6,573,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0558:Or5bw2
|
UTSW |
7 |
6,573,652 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1103:Or5bw2
|
UTSW |
7 |
6,573,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1352:Or5bw2
|
UTSW |
7 |
6,573,782 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1503:Or5bw2
|
UTSW |
7 |
6,573,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1630:Or5bw2
|
UTSW |
7 |
6,573,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1981:Or5bw2
|
UTSW |
7 |
6,573,557 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2228:Or5bw2
|
UTSW |
7 |
6,573,802 (GRCm39) |
missense |
probably benign |
|
|
R2258:Or5bw2
|
UTSW |
7 |
6,573,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2259:Or5bw2
|
UTSW |
7 |
6,573,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2260:Or5bw2
|
UTSW |
7 |
6,573,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4075:Or5bw2
|
UTSW |
7 |
6,573,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4750:Or5bw2
|
UTSW |
7 |
6,573,850 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4917:Or5bw2
|
UTSW |
7 |
6,573,643 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4918:Or5bw2
|
UTSW |
7 |
6,573,643 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5571:Or5bw2
|
UTSW |
7 |
6,573,824 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5915:Or5bw2
|
UTSW |
7 |
6,573,172 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6969:Or5bw2
|
UTSW |
7 |
6,573,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7061:Or5bw2
|
UTSW |
7 |
6,573,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7286:Or5bw2
|
UTSW |
7 |
6,573,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7510:Or5bw2
|
UTSW |
7 |
6,572,960 (GRCm39) |
start gained |
probably benign |
|
|
R9475:Or5bw2
|
UTSW |
7 |
6,573,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V1662:Or5bw2
|
UTSW |
7 |
6,573,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Or5bw2
|
UTSW |
7 |
6,573,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Nature of Mutation |
 DNA sequencing using the SOLiD technique identified an A to T tranversion at position 827 of the Olfr1350 transcript using Genbank record NM_146389.1. The mutated nucleotide causes a tyrosine to phenylalanine substitution at amino acid 276 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method.
|
| Protein Function and Prediction |
The Olfr1350 gene encodes the 308 amino acid olfactory receptor 1350. Olfactory receptors are G-protein coupled receptors (GPCRs). Like other GPCRs, OLFR1350 contains seven transmembrane domains, an extracellular N-terminus, and a cytoplasmic C-terminus.
|
| Posted On |
2011-03-04 |
Incidental Mutation