Incidental Mutation 'IGL02024:Or5w20'
| ID |
184073 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or5w20
|
| Ensembl Gene |
ENSMUSG00000048197 |
| Gene Name |
olfactory receptor family 5 subfamily W member 20 |
| Synonyms |
Olfr1153, MOR177-7, GA_x6K02T2Q125-49395950-49396882 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.186)
|
| Stock # |
IGL02024
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
87726521-87727477 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87727243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 233
(R233S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150945
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052300]
[ENSMUST00000215017]
[ENSMUST00000215862]
[ENSMUST00000217436]
|
| AlphaFold |
A2AVC0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052300
AA Change: R241S
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000057839
Gene: ENSMUSG00000048197
AA Change: R241S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
38 |
315 |
4.9e-45 |
PFAM |
|
Pfam:7tm_1
|
48 |
297 |
5.9e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215017
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215862
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217436
AA Change: R233S
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
G |
A |
6: 23,113,705 (GRCm39) |
H246Y |
probably damaging |
Het |
| Abat |
G |
A |
16: 8,429,000 (GRCm39) |
A322T |
probably damaging |
Het |
| Bcat1 |
A |
G |
6: 144,978,564 (GRCm39) |
V152A |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,969,826 (GRCm39) |
|
probably benign |
Het |
| Elavl2 |
T |
C |
4: 91,141,776 (GRCm39) |
T291A |
probably benign |
Het |
| Ezh1 |
G |
T |
11: 101,090,166 (GRCm39) |
H529Q |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,805,799 (GRCm39) |
C2026Y |
probably damaging |
Het |
| Fcgrt |
T |
A |
7: 44,744,682 (GRCm39) |
H258L |
probably damaging |
Het |
| Galnt6 |
C |
T |
15: 100,601,374 (GRCm39) |
D302N |
probably benign |
Het |
| Gldc |
T |
A |
19: 30,078,227 (GRCm39) |
R923S |
probably damaging |
Het |
| Hspg2 |
G |
T |
4: 137,267,384 (GRCm39) |
A2033S |
probably damaging |
Het |
| Htr2c |
T |
A |
X: 145,858,921 (GRCm39) |
M77K |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,510,856 (GRCm39) |
Y337C |
probably damaging |
Het |
| Ints11 |
G |
T |
4: 155,972,972 (GRCm39) |
W554L |
probably damaging |
Het |
| Itgbl1 |
T |
A |
14: 124,094,904 (GRCm39) |
C186S |
probably damaging |
Het |
| Lipf |
A |
G |
19: 33,953,995 (GRCm39) |
Y362C |
probably damaging |
Het |
| Map2k7 |
T |
A |
8: 4,297,663 (GRCm39) |
S421R |
possibly damaging |
Het |
| Mroh9 |
T |
G |
1: 162,890,071 (GRCm39) |
N222T |
possibly damaging |
Het |
| Msl3 |
C |
A |
X: 167,453,247 (GRCm39) |
R89L |
probably benign |
Het |
| Nrip1 |
T |
A |
16: 76,088,563 (GRCm39) |
D998V |
probably benign |
Het |
| Nrk |
T |
A |
X: 137,896,678 (GRCm39) |
I1265N |
probably damaging |
Het |
| Ntn5 |
A |
G |
7: 45,340,830 (GRCm39) |
|
probably benign |
Het |
| Or11g27 |
A |
G |
14: 50,771,307 (GRCm39) |
N146S |
probably benign |
Het |
| Or6s1 |
T |
G |
14: 51,308,766 (GRCm39) |
E28A |
probably benign |
Het |
| Plch2 |
T |
C |
4: 155,127,595 (GRCm39) |
|
probably benign |
Het |
| Porcn |
C |
T |
X: 8,067,901 (GRCm39) |
V233I |
probably benign |
Het |
| Ppp2r2a |
T |
C |
14: 67,276,361 (GRCm39) |
K48R |
probably benign |
Het |
| Ppp4r3c1 |
G |
A |
X: 88,975,129 (GRCm39) |
T356I |
probably benign |
Het |
| Rccd1 |
A |
T |
7: 79,968,755 (GRCm39) |
D268E |
probably benign |
Het |
| Sacs |
C |
A |
14: 61,427,127 (GRCm39) |
S178R |
probably damaging |
Het |
| Samd12 |
T |
A |
15: 53,521,862 (GRCm39) |
D116V |
probably damaging |
Het |
| Slc12a8 |
A |
G |
16: 33,428,568 (GRCm39) |
E46G |
probably damaging |
Het |
| Slc30a10 |
A |
T |
1: 185,187,438 (GRCm39) |
I60F |
possibly damaging |
Het |
| Slc6a8 |
C |
T |
X: 72,722,583 (GRCm39) |
|
probably benign |
Het |
| Sos2 |
A |
G |
12: 69,664,822 (GRCm39) |
|
probably benign |
Het |
| Tbc1d31 |
T |
C |
15: 57,783,338 (GRCm39) |
V79A |
probably benign |
Het |
| Tmem184c |
A |
T |
8: 78,331,443 (GRCm39) |
V102E |
probably benign |
Het |
| Ttc19 |
G |
T |
11: 62,203,939 (GRCm39) |
R300I |
probably damaging |
Het |
| Unc5d |
T |
A |
8: 29,142,855 (GRCm39) |
I866F |
probably benign |
Het |
| Vmn1r7 |
A |
T |
6: 57,001,874 (GRCm39) |
C129S |
probably benign |
Het |
| Vps41 |
T |
A |
13: 18,975,827 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
C |
T |
14: 79,331,724 (GRCm39) |
A1275V |
possibly damaging |
Het |
|
| Other mutations in Or5w20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01075:Or5w20
|
APN |
2 |
87,727,265 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02219:Or5w20
|
APN |
2 |
87,727,317 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02693:Or5w20
|
APN |
2 |
87,726,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0121:Or5w20
|
UTSW |
2 |
87,727,434 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0315:Or5w20
|
UTSW |
2 |
87,727,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0446:Or5w20
|
UTSW |
2 |
87,727,199 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0472:Or5w20
|
UTSW |
2 |
87,726,837 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0720:Or5w20
|
UTSW |
2 |
87,727,013 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1579:Or5w20
|
UTSW |
2 |
87,727,286 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1968:Or5w20
|
UTSW |
2 |
87,727,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3909:Or5w20
|
UTSW |
2 |
87,727,293 (GRCm39) |
splice site |
probably null |
|
|
R4936:Or5w20
|
UTSW |
2 |
87,727,157 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5520:Or5w20
|
UTSW |
2 |
87,726,753 (GRCm39) |
unclassified |
probably benign |
|
|
R5585:Or5w20
|
UTSW |
2 |
87,727,019 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6176:Or5w20
|
UTSW |
2 |
87,727,280 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6272:Or5w20
|
UTSW |
2 |
87,727,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6451:Or5w20
|
UTSW |
2 |
87,726,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7312:Or5w20
|
UTSW |
2 |
87,726,755 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7350:Or5w20
|
UTSW |
2 |
87,726,753 (GRCm39) |
unclassified |
probably benign |
|
|
R8060:Or5w20
|
UTSW |
2 |
87,727,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8752:Or5w20
|
UTSW |
2 |
87,726,591 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9474:Or5w20
|
UTSW |
2 |
87,726,693 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9710:Or5w20
|
UTSW |
2 |
87,726,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Or5w20
|
UTSW |
2 |
87,726,977 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2014-05-07 |
Incidental Mutation