Incidental Mutation 'IGL00164:Or5w1'
| ID |
1874 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or5w1
|
| Ensembl Gene |
ENSMUSG00000111747 |
| Gene Name |
olfactory receptor family 5 subfamily W member 1 |
| Synonyms |
MOR176-1, Olfr1134, GA_x6K02T2Q125-49162076-49161138 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
IGL00164
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
87486269-87488801 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87486582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 228
(M228V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150358
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099857]
[ENSMUST00000135875]
[ENSMUST00000213939]
|
| AlphaFold |
Q7TR43 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099854
AA Change: M228V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000097440
Gene: ENSMUSG00000075154
AA Change: M228V
| Domain | Start | End | E-Value | Type |
|---|
|
GHB
|
123 |
190 |
1.21e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099857
AA Change: M228V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000097443
Gene: ENSMUSG00000111747
AA Change: M228V
| Domain | Start | End | E-Value | Type |
|---|
|
GHB
|
123 |
190 |
1.21e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135875
AA Change: M228V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213939
AA Change: M228V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,471,477 (GRCm39) |
|
probably benign |
Het |
| Abcg4 |
A |
G |
9: 44,186,439 (GRCm39) |
|
probably benign |
Het |
| Actr2 |
A |
G |
11: 20,030,015 (GRCm39) |
|
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,267,581 (GRCm39) |
L843P |
probably benign |
Het |
| Cdk19 |
G |
A |
10: 40,312,161 (GRCm39) |
D137N |
probably benign |
Het |
| Cuedc2 |
T |
A |
19: 46,320,359 (GRCm39) |
I71F |
probably damaging |
Het |
| Dag1 |
A |
G |
9: 108,086,487 (GRCm39) |
V218A |
probably damaging |
Het |
| Dlg5 |
A |
C |
14: 24,208,532 (GRCm39) |
S868R |
possibly damaging |
Het |
| Ecsit |
C |
T |
9: 21,984,310 (GRCm39) |
G340D |
probably benign |
Het |
| Fkbp8 |
A |
G |
8: 70,987,211 (GRCm39) |
M358V |
probably damaging |
Het |
| Gckr |
G |
A |
5: 31,456,920 (GRCm39) |
V79M |
probably damaging |
Het |
| Gpd1 |
C |
A |
15: 99,618,532 (GRCm39) |
D172E |
probably benign |
Het |
| Josd2 |
T |
C |
7: 44,120,740 (GRCm39) |
|
probably benign |
Het |
| Kcna2 |
T |
C |
3: 107,011,946 (GRCm39) |
S176P |
probably damaging |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Notch1 |
G |
A |
2: 26,350,058 (GRCm39) |
R2361W |
probably damaging |
Het |
| Palb2 |
A |
C |
7: 121,720,271 (GRCm39) |
|
probably benign |
Het |
| Pan2 |
C |
T |
10: 128,148,795 (GRCm39) |
Q452* |
probably null |
Het |
| Pcnx1 |
T |
C |
12: 81,941,875 (GRCm39) |
V91A |
probably damaging |
Het |
| Rgs22 |
T |
A |
15: 36,100,077 (GRCm39) |
I213F |
possibly damaging |
Het |
| Serpina3b |
G |
T |
12: 104,105,046 (GRCm39) |
W407C |
probably benign |
Het |
| Sf3b2 |
T |
C |
19: 5,329,615 (GRCm39) |
D687G |
probably benign |
Het |
| Slc8a3 |
T |
C |
12: 81,361,343 (GRCm39) |
E492G |
probably benign |
Het |
| Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Surf1 |
C |
T |
2: 26,803,584 (GRCm39) |
|
probably null |
Het |
| Tmem190 |
T |
C |
7: 4,785,998 (GRCm39) |
|
probably benign |
Het |
| Zfhx2 |
A |
G |
14: 55,302,483 (GRCm39) |
S1834P |
possibly damaging |
Het |
| Zfp607a |
G |
A |
7: 27,577,214 (GRCm39) |
E95K |
possibly damaging |
Het |
|
| Other mutations in Or5w1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01397:Or5w1
|
APN |
2 |
87,487,249 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01583:Or5w1
|
APN |
2 |
87,486,757 (GRCm39) |
nonsense |
probably null |
|
|
IGL01655:Or5w1
|
APN |
2 |
87,486,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02184:Or5w1
|
APN |
2 |
87,487,136 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02263:Or5w1
|
APN |
2 |
87,486,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02964:Or5w1
|
APN |
2 |
87,487,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03391:Or5w1
|
APN |
2 |
87,487,032 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5171:Or5w1
|
UTSW |
2 |
87,486,888 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6434:Or5w1
|
UTSW |
2 |
87,486,558 (GRCm39) |
nonsense |
probably null |
|
|
R7466:Or5w1
|
UTSW |
2 |
87,486,740 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7770:Or5w1
|
UTSW |
2 |
87,486,813 (GRCm39) |
missense |
not run |
|
|
R8810:Or5w1
|
UTSW |
2 |
87,486,591 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9249:Or5w1
|
UTSW |
2 |
87,486,660 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9572:Or5w1
|
UTSW |
2 |
87,486,914 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Posted On |
2011-07-12 |
Incidental Mutation