Incidental Mutation 'V8831:Or2w1b'
| ID |
44631 |
| 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 # |
V8831 ()
of strain
710
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
21299764-21300871 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21300173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 104
(Y104H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079050]
[ENSMUST00000213326]
[ENSMUST00000213922]
[ENSMUST00000215207]
[ENSMUST00000215941]
|
| AlphaFold |
A0A140T8K7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079050
AA Change: Y104H
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000078059
Gene: ENSMUSG00000060404
AA Change: Y104H
| 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 |
possibly damaging
Transcript: ENSMUST00000213326
AA Change: Y104H
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213922
AA Change: Y104H
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215207
AA Change: Y104H
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215941
AA Change: Y104H
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahsa1 |
A |
G |
12: 87,316,697 (GRCm39) |
N107S |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,347,371 (GRCm39) |
I690V |
probably benign |
Het |
| Bard1 |
G |
A |
1: 71,127,376 (GRCm39) |
P78S |
probably damaging |
Het |
| Ccar1 |
G |
A |
10: 62,583,185 (GRCm39) |
T976I |
unknown |
Het |
| Cdc7 |
T |
A |
5: 107,116,776 (GRCm39) |
N50K |
probably benign |
Het |
| Cep85 |
C |
T |
4: 133,883,380 (GRCm39) |
E170K |
possibly damaging |
Het |
| Cpsf2 |
C |
T |
12: 101,969,400 (GRCm39) |
R757C |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 48,321,092 (GRCm39) |
D239E |
probably damaging |
Het |
| Dnah7b |
T |
G |
1: 46,412,458 (GRCm39) |
Y4022* |
probably null |
Het |
| Elmo3 |
A |
G |
8: 106,033,693 (GRCm39) |
N179S |
probably benign |
Het |
| H2bc11 |
G |
C |
13: 22,227,451 (GRCm39) |
|
probably benign |
Het |
| H2-T24 |
T |
A |
17: 36,328,216 (GRCm39) |
Q89L |
probably damaging |
Het |
| Irak4 |
T |
C |
15: 94,459,365 (GRCm39) |
I327T |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,287,380 (GRCm39) |
L157Q |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,059,878 (GRCm39) |
D656N |
probably benign |
Het |
| Lrrc72 |
G |
T |
12: 36,258,656 (GRCm39) |
T67K |
possibly damaging |
Het |
| Map2 |
T |
G |
1: 66,455,004 (GRCm39) |
I1298S |
probably damaging |
Het |
| Mroh2a |
T |
TN |
1: 88,183,889 (GRCm39) |
|
probably null |
Het |
| Ndst1 |
G |
A |
18: 60,835,999 (GRCm39) |
A428V |
probably damaging |
Het |
| Obsl1 |
G |
A |
1: 75,486,756 (GRCm38) |
T1764M |
probably benign |
Het |
| Or5k14 |
G |
T |
16: 58,693,438 (GRCm39) |
T25K |
probably benign |
Het |
| Or5p4 |
C |
T |
7: 107,680,742 (GRCm39) |
A247V |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,334,119 (GRCm39) |
V170A |
probably damaging |
Het |
| Rfx6 |
G |
A |
10: 51,594,304 (GRCm39) |
|
probably null |
Het |
| Shprh |
G |
A |
10: 11,062,606 (GRCm39) |
D1238N |
probably damaging |
Het |
| Slc15a2 |
A |
G |
16: 36,772,445 (GRCm38) |
M179T |
probably benign |
Het |
| Slc9c1 |
A |
T |
16: 45,398,262 (GRCm39) |
I676F |
possibly damaging |
Het |
| Smoc1 |
A |
G |
12: 81,215,029 (GRCm39) |
D305G |
probably damaging |
Het |
| Spdef |
C |
T |
17: 27,937,051 (GRCm39) |
R184H |
probably damaging |
Het |
| Stxbp4 |
C |
T |
11: 90,371,497 (GRCm39) |
A535T |
probably benign |
Het |
| Tcp11l1 |
C |
G |
2: 104,515,829 (GRCm39) |
V345L |
probably benign |
Het |
| Ticam1 |
TC |
T |
17: 56,576,969 (GRCm39) |
708 |
probably null |
Het |
| Ttc28 |
A |
T |
5: 111,248,578 (GRCm39) |
Y177F |
probably benign |
Het |
| Ugt2b34 |
A |
T |
5: 87,054,533 (GRCm39) |
Y83N |
probably benign |
Het |
| Vmn2r30 |
G |
A |
7: 7,337,148 (GRCm39) |
R163C |
probably benign |
Het |
| Xirp1 |
T |
G |
9: 120,016,907 (GRCm38) |
Q970P |
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 |
|
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 |
|
Z1176:Or2w1b
|
UTSW |
13 |
21,300,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGACCACCCTCACCTGGAAATG -3'
(R):5'- TGTCCACATCGAGGCAAATTCACAG -3'
Sequencing Primer
(F):5'- ACTGGTGGGTAACACTGC -3'
(R):5'- CGAGGCAAATTCACAGTGAGTG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation