Incidental Mutation 'IGL01689:Or2w1b'
| ID |
104044 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or2w1b
|
| Ensembl Gene |
ENSMUSG00000060404 |
| Gene Name |
olfactory receptor family 2 subfamily W member 1B |
| Synonyms |
Olfr1369, MOR256-31, GA_x6K02T2QHY8-12126170-12125935 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.315)
|
| Stock # |
IGL01689
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
21299764-21300871 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 21300243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 127
(C127Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079050]
[ENSMUST00000213326]
[ENSMUST00000213922]
[ENSMUST00000215207]
[ENSMUST00000215941]
|
| AlphaFold |
A0A140T8K7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079050
AA Change: C127Y
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000078059
Gene: ENSMUSG00000060404
AA Change: C127Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
6.2e-47 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.1e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213326
AA Change: C127Y
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213922
AA Change: C127Y
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215207
AA Change: C127Y
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215941
AA Change: C127Y
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox4 |
A |
G |
1: 58,284,320 (GRCm39) |
|
probably benign |
Het |
| Arhgap10 |
A |
G |
8: 78,137,763 (GRCm39) |
|
probably benign |
Het |
| Armc9 |
T |
C |
1: 86,202,140 (GRCm39) |
V766A |
probably benign |
Het |
| Asxl2 |
A |
T |
12: 3,546,425 (GRCm39) |
Q403L |
probably benign |
Het |
| Cd244a |
G |
A |
1: 171,410,462 (GRCm39) |
|
probably benign |
Het |
| Cdc34b |
A |
G |
11: 94,633,345 (GRCm39) |
K182E |
probably benign |
Het |
| Csnk1d |
A |
T |
11: 120,862,393 (GRCm39) |
F295L |
probably benign |
Het |
| Gm11541 |
A |
G |
11: 94,595,020 (GRCm39) |
V16A |
unknown |
Het |
| Kdr |
T |
C |
5: 76,097,500 (GRCm39) |
D1252G |
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,447,380 (GRCm39) |
D1395G |
probably damaging |
Het |
| Lars1 |
T |
A |
18: 42,350,014 (GRCm39) |
Q930L |
probably benign |
Het |
| Lypd5 |
A |
G |
7: 24,052,054 (GRCm39) |
|
probably benign |
Het |
| Paics |
T |
C |
5: 77,109,138 (GRCm39) |
|
probably null |
Het |
| Pcnt |
A |
G |
10: 76,247,487 (GRCm39) |
V1015A |
probably damaging |
Het |
| Thada |
C |
T |
17: 84,754,116 (GRCm39) |
S285N |
possibly damaging |
Het |
| Tlr1 |
T |
C |
5: 65,083,122 (GRCm39) |
D485G |
probably damaging |
Het |
| Vmn2r66 |
T |
C |
7: 84,657,033 (GRCm39) |
N124S |
probably damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,330,827 (GRCm39) |
D464G |
possibly damaging |
Het |
|
| Other mutations in Or2w1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0631:Or2w1b
|
UTSW |
13 |
21,300,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0960:Or2w1b
|
UTSW |
13 |
21,300,435 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1499:Or2w1b
|
UTSW |
13 |
21,300,303 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1549:Or2w1b
|
UTSW |
13 |
21,300,288 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1698:Or2w1b
|
UTSW |
13 |
21,300,735 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1711:Or2w1b
|
UTSW |
13 |
21,300,476 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2404:Or2w1b
|
UTSW |
13 |
21,300,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2471:Or2w1b
|
UTSW |
13 |
21,300,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3844:Or2w1b
|
UTSW |
13 |
21,300,233 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3977:Or2w1b
|
UTSW |
13 |
21,300,031 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3979:Or2w1b
|
UTSW |
13 |
21,300,031 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4804:Or2w1b
|
UTSW |
13 |
21,300,175 (GRCm39) |
nonsense |
probably null |
|
|
R4914:Or2w1b
|
UTSW |
13 |
21,300,567 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5210:Or2w1b
|
UTSW |
13 |
21,300,222 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5359:Or2w1b
|
UTSW |
13 |
21,300,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5700:Or2w1b
|
UTSW |
13 |
21,300,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6218:Or2w1b
|
UTSW |
13 |
21,300,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6767:Or2w1b
|
UTSW |
13 |
21,300,227 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7396:Or2w1b
|
UTSW |
13 |
21,300,477 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7476:Or2w1b
|
UTSW |
13 |
21,300,191 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7612:Or2w1b
|
UTSW |
13 |
21,300,217 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8257:Or2w1b
|
UTSW |
13 |
21,300,543 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9388:Or2w1b
|
UTSW |
13 |
21,300,774 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9697:Or2w1b
|
UTSW |
13 |
21,299,892 (GRCm39) |
missense |
probably benign |
0.21 |
|
V8831:Or2w1b
|
UTSW |
13 |
21,300,173 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1176:Or2w1b
|
UTSW |
13 |
21,300,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation