Incidental Mutation 'R5210:Or2w1b'
| ID |
403101 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5210 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
21299764-21300871 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21300222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 120
(Y120F)
|
| 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: Y120F
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000078059
Gene: ENSMUSG00000060404
AA Change: Y120F
| 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: Y120F
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213922
AA Change: Y120F
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215207
AA Change: Y120F
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215941
AA Change: Y120F
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
T |
A |
5: 35,994,416 (GRCm39) |
V342E |
probably benign |
Het |
| Adgre4 |
T |
A |
17: 56,092,029 (GRCm39) |
N96K |
probably damaging |
Het |
| Aopep |
A |
G |
13: 63,215,924 (GRCm39) |
I399V |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,087,414 (GRCm39) |
V710A |
possibly damaging |
Het |
| Ccdc171 |
A |
G |
4: 83,473,093 (GRCm39) |
E174G |
probably damaging |
Het |
| Col11a1 |
T |
C |
3: 113,946,806 (GRCm39) |
F1026S |
probably damaging |
Het |
| Coro1c |
A |
G |
5: 113,983,367 (GRCm39) |
L387P |
probably damaging |
Het |
| Dsg1c |
C |
T |
18: 20,407,758 (GRCm39) |
T368I |
probably damaging |
Het |
| Exoc3l4 |
C |
A |
12: 111,395,275 (GRCm39) |
|
probably benign |
Het |
| Extl1 |
T |
C |
4: 134,087,895 (GRCm39) |
D453G |
probably benign |
Het |
| Gm21136 |
T |
C |
7: 38,567,165 (GRCm39) |
|
noncoding transcript |
Het |
| H3c4 |
G |
T |
13: 23,760,015 (GRCm39) |
G14C |
possibly damaging |
Het |
| Ifi208 |
T |
C |
1: 173,510,831 (GRCm39) |
S329P |
probably benign |
Het |
| Iscu |
T |
A |
5: 113,915,034 (GRCm39) |
L182* |
probably null |
Het |
| Klra6 |
T |
A |
6: 129,995,855 (GRCm39) |
K168* |
probably null |
Het |
| Map3k5 |
T |
C |
10: 19,900,647 (GRCm39) |
S274P |
possibly damaging |
Het |
| Megf6 |
G |
T |
4: 154,354,273 (GRCm39) |
|
probably benign |
Het |
| Mmp12 |
T |
A |
9: 7,349,729 (GRCm39) |
Y53* |
probably null |
Het |
| Nucb2 |
T |
A |
7: 116,128,222 (GRCm39) |
Y278N |
probably damaging |
Het |
| Numa1 |
C |
A |
7: 101,649,188 (GRCm39) |
A973E |
probably benign |
Het |
| Or1o4 |
C |
A |
17: 37,590,824 (GRCm39) |
K162N |
probably benign |
Het |
| Or5b123 |
A |
G |
19: 13,596,763 (GRCm39) |
K79R |
probably damaging |
Het |
| Or7g18 |
T |
A |
9: 18,787,103 (GRCm39) |
L157Q |
probably damaging |
Het |
| Pcdhga3 |
C |
A |
18: 37,808,963 (GRCm39) |
T472K |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,763,464 (GRCm39) |
D694G |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,607,199 (GRCm39) |
|
probably null |
Het |
| Pou3f2 |
C |
T |
4: 22,487,324 (GRCm39) |
D270N |
probably damaging |
Het |
| Prrc2a |
G |
A |
17: 35,372,596 (GRCm39) |
R1682W |
probably damaging |
Het |
| Rb1 |
A |
G |
14: 73,436,751 (GRCm39) |
F838S |
probably damaging |
Het |
| Sec24c |
A |
G |
14: 20,741,872 (GRCm39) |
E769G |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Tmem63c |
A |
T |
12: 87,136,172 (GRCm39) |
E796V |
probably benign |
Het |
| Tomm70a |
G |
A |
16: 56,953,614 (GRCm39) |
|
probably null |
Het |
| Tpcn1 |
G |
A |
5: 120,677,279 (GRCm39) |
T676I |
probably damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
|
| Other mutations in Or2w1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01689:Or2w1b
|
APN |
13 |
21,300,243 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACACTGCTATAATTCTTGCATCCC -3'
(R):5'- GGTCCAGGATGTTATGTCCAC -3'
Sequencing Primer
(F):5'- ATACACCAATGTACTTTTTCCTCAGG -3'
(R):5'- ATGTTATGTCCACATCGAGGC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation