Incidental Mutation 'R0035:Obp2b'
| ID |
15403 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Obp2b
|
| Ensembl Gene |
ENSMUSG00000079539 |
| Gene Name |
odorant binding protein 2B |
| Synonyms |
Lcn14, OTTMUSG00000012631 |
| MMRRC Submission |
038329-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R0035 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25627021-25630109 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25628645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 133
(L133P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114192]
|
| AlphaFold |
A2BHR0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114192
AA Change: L133P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109830
Gene: ENSMUSG00000079539
AA Change: L133P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
17 |
N/A |
INTRINSIC |
|
Pfam:Lipocalin
|
31 |
169 |
5.6e-32 |
PFAM |
|
| Meta Mutation Damage Score |
0.3379 |
| Coding Region Coverage |
- 1x: 75.6%
- 3x: 61.5%
- 10x: 31.6%
- 20x: 15.2%
|
| Validation Efficiency |
94% (51/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small extracellular protein belonging to the lipocalin superfamily. The protein is thought to transport small, hydrophobic, volatile molecules or odorants through the nasal mucus to olfactory receptors, and may also function as a scavenger of highly concentrated or toxic odors. The protein is expressed as a monomer in the nasal mucus, and can bind diverse types of odorants with a higher affinity for aldehydes and fatty acids. This gene and a highly similar family member are located in a cluster of lipocalin genes on chromosome 9. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110040N11Rik |
T |
C |
7: 81,438,297 (GRCm39) |
T20A |
probably benign |
Het |
| Acvr1c |
A |
G |
2: 58,205,791 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,393,581 (GRCm39) |
V1247A |
probably benign |
Het |
| Ap4b1 |
T |
C |
3: 103,727,980 (GRCm39) |
|
probably benign |
Het |
| Cfap53 |
A |
G |
18: 74,433,278 (GRCm39) |
E121G |
probably damaging |
Het |
| Clec4a3 |
T |
A |
6: 122,944,508 (GRCm39) |
Y185N |
probably damaging |
Het |
| Clic5 |
A |
G |
17: 44,586,200 (GRCm39) |
T230A |
probably damaging |
Het |
| Clspn |
G |
T |
4: 126,458,796 (GRCm39) |
|
probably null |
Het |
| Deup1 |
T |
C |
9: 15,511,117 (GRCm39) |
R221G |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 30,902,595 (GRCm39) |
|
probably benign |
Het |
| Dnase1l2 |
A |
G |
17: 24,660,049 (GRCm39) |
V273A |
probably damaging |
Het |
| Gm5134 |
T |
A |
10: 75,829,698 (GRCm39) |
F328Y |
probably benign |
Het |
| Il23r |
A |
G |
6: 67,450,772 (GRCm39) |
|
probably benign |
Het |
| Il36b |
A |
T |
2: 24,049,890 (GRCm39) |
H167L |
probably benign |
Het |
| Ktn1 |
A |
G |
14: 47,967,836 (GRCm39) |
N1167D |
probably benign |
Het |
| Map6 |
C |
T |
7: 98,966,815 (GRCm39) |
T345I |
probably damaging |
Het |
| Mark2 |
A |
T |
19: 7,262,017 (GRCm39) |
|
probably benign |
Het |
| Nr1h5 |
T |
A |
3: 102,856,889 (GRCm39) |
K208* |
probably null |
Het |
| Ptafr |
C |
A |
4: 132,306,864 (GRCm39) |
L85I |
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,139,504 (GRCm39) |
Y76* |
probably null |
Het |
| Rad50 |
A |
G |
11: 53,545,854 (GRCm39) |
|
probably benign |
Het |
| Rasef |
G |
T |
4: 73,681,091 (GRCm39) |
|
probably benign |
Het |
| Tbc1d17 |
T |
C |
7: 44,490,832 (GRCm39) |
N587D |
probably benign |
Het |
| Zc3h12c |
A |
T |
9: 52,055,047 (GRCm39) |
M235K |
probably benign |
Het |
| Zfp619 |
G |
A |
7: 39,186,706 (GRCm39) |
G912D |
probably damaging |
Het |
| Zfp982 |
A |
C |
4: 147,597,149 (GRCm39) |
K169Q |
probably benign |
Het |
|
| Other mutations in Obp2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00556:Obp2b
|
APN |
2 |
25,628,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01293:Obp2b
|
APN |
2 |
25,627,719 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01731:Obp2b
|
APN |
2 |
25,629,293 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL01751:Obp2b
|
APN |
2 |
25,627,760 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02631:Obp2b
|
APN |
2 |
25,629,255 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0035:Obp2b
|
UTSW |
2 |
25,628,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1753:Obp2b
|
UTSW |
2 |
25,628,652 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1955:Obp2b
|
UTSW |
2 |
25,628,563 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4956:Obp2b
|
UTSW |
2 |
25,627,087 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5253:Obp2b
|
UTSW |
2 |
25,627,155 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6434:Obp2b
|
UTSW |
2 |
25,628,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7176:Obp2b
|
UTSW |
2 |
25,627,760 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1177:Obp2b
|
UTSW |
2 |
25,627,695 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Posted On |
2012-12-17 |
Incidental Mutation