Incidental Mutation 'R5359:Or2w1b'
ID |
424251 |
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 |
MMRRC Submission |
042938-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.346)
|
Stock # |
R5359 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
21299764-21300871 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 21300437 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 192
(T192P)
|
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: T192P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000078059 Gene: ENSMUSG00000060404 AA Change: T192P
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: T192P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000213922
AA Change: T192P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000215207
AA Change: T192P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000215941
AA Change: T192P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap5b1 |
T |
A |
19: 5,619,126 (GRCm39) |
I182N |
possibly damaging |
Het |
Arap2 |
A |
T |
5: 62,840,762 (GRCm39) |
C701* |
probably null |
Het |
Bcr |
T |
A |
10: 75,001,917 (GRCm39) |
F940L |
probably damaging |
Het |
Cav2 |
A |
T |
6: 17,287,064 (GRCm39) |
|
probably benign |
Het |
Cdk2 |
T |
C |
10: 128,539,857 (GRCm39) |
|
probably benign |
Het |
Clic4 |
G |
A |
4: 134,944,446 (GRCm39) |
A243V |
probably benign |
Het |
Dap3 |
A |
T |
3: 88,838,296 (GRCm39) |
V99D |
probably damaging |
Het |
Dennd5a |
T |
C |
7: 109,497,169 (GRCm39) |
E1110G |
probably damaging |
Het |
Dhx30 |
T |
C |
9: 109,922,203 (GRCm39) |
N160D |
probably damaging |
Het |
Dnai7 |
T |
G |
6: 145,142,618 (GRCm39) |
T120P |
probably damaging |
Het |
Dock9 |
A |
G |
14: 121,890,472 (GRCm39) |
M268T |
possibly damaging |
Het |
Dspp |
T |
A |
5: 104,323,752 (GRCm39) |
D298E |
probably damaging |
Het |
Elane |
A |
G |
10: 79,722,870 (GRCm39) |
E92G |
probably damaging |
Het |
Erp44 |
A |
T |
4: 48,211,704 (GRCm39) |
D197E |
probably benign |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Gbf1 |
T |
C |
19: 46,272,164 (GRCm39) |
|
probably null |
Het |
Gm1968 |
A |
T |
16: 29,777,617 (GRCm39) |
|
noncoding transcript |
Het |
Hydin |
T |
A |
8: 111,265,004 (GRCm39) |
V2729E |
probably benign |
Het |
Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
Iqgap1 |
T |
C |
7: 80,416,707 (GRCm39) |
T106A |
probably benign |
Het |
Kcnj6 |
G |
C |
16: 94,633,312 (GRCm39) |
Y248* |
probably null |
Het |
Mllt3 |
A |
G |
4: 87,759,164 (GRCm39) |
S295P |
probably benign |
Het |
Pex11b |
G |
A |
3: 96,551,229 (GRCm39) |
C224Y |
probably damaging |
Het |
Pik3c2g |
A |
G |
6: 139,599,121 (GRCm39) |
Y79C |
probably damaging |
Het |
Plcz1 |
T |
C |
6: 139,974,178 (GRCm39) |
Y88C |
probably damaging |
Het |
Pole |
A |
G |
5: 110,480,354 (GRCm39) |
N99S |
probably benign |
Het |
Pyroxd1 |
T |
G |
6: 142,307,717 (GRCm39) |
Y496D |
probably damaging |
Het |
Rasef |
A |
G |
4: 73,689,565 (GRCm39) |
L68P |
probably damaging |
Het |
Rgs13 |
T |
A |
1: 144,015,322 (GRCm39) |
M132L |
probably damaging |
Het |
RP24-187P11.4 |
T |
G |
9: 109,349,944 (GRCm39) |
|
noncoding transcript |
Het |
Rsph4a |
A |
G |
10: 33,784,232 (GRCm39) |
T285A |
probably benign |
Het |
Ryr3 |
A |
T |
2: 112,606,186 (GRCm39) |
|
probably null |
Het |
Slc30a1 |
T |
A |
1: 191,641,865 (GRCm39) |
*504R |
probably null |
Het |
Spcs1 |
T |
C |
14: 30,722,074 (GRCm39) |
R156G |
probably damaging |
Het |
Supv3l1 |
A |
G |
10: 62,268,178 (GRCm39) |
F556L |
probably damaging |
Het |
Thumpd2 |
C |
T |
17: 81,334,206 (GRCm39) |
V461M |
probably benign |
Het |
Timm50 |
A |
G |
7: 28,007,592 (GRCm39) |
L158P |
probably damaging |
Het |
Tnrc6c |
T |
C |
11: 117,649,731 (GRCm39) |
|
silent |
Het |
Ttn |
G |
A |
2: 76,726,147 (GRCm39) |
Q1807* |
probably null |
Het |
Zdhhc14 |
A |
G |
17: 5,543,821 (GRCm39) |
I34V |
probably benign |
Het |
Zgrf1 |
T |
A |
3: 127,394,814 (GRCm39) |
M506K |
possibly damaging |
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 |
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'- AGTGTCTGCTCCTAGCTGTC -3'
(R):5'- ACCACAGTGAGATGGGATCCAC -3'
Sequencing Primer
(F):5'- AGCTGTCATGTCCTATGATCG -3'
(R):5'- AGATGGGATCCACAGGTATTCATTGC -3'
|
Posted On |
2016-08-04 |