Incidental Mutation 'IGL00824:Osbpl2'
| ID |
12873 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Osbpl2
|
| Ensembl Gene |
ENSMUSG00000039050 |
| Gene Name |
oxysterol binding protein-like 2 |
| Synonyms |
C130070J12Rik, ORP-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
IGL00824
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
179761099-179804473 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 179792060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 255
(V255M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046538
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040668]
|
| AlphaFold |
Q8BX94 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040668
AA Change: V255M
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000046538
Gene: ENSMUSG00000039050
AA Change: V255M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
75 |
474 |
8.4e-143 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124225
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142376
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although the encoded protein contains only the sterol-binding domain. In vitro studies have shown that the encoded protein can bind strongly to phosphatic acid and weakly to phosphatidylinositol 3-phosphate, but cannot bind to 25-hydroxycholesterol. The protein associates with the Golgi apparatus. Transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atl1 |
A |
G |
12: 69,979,012 (GRCm39) |
T147A |
probably damaging |
Het |
| Cdh17 |
A |
G |
4: 11,784,675 (GRCm39) |
K277R |
probably benign |
Het |
| Cyp2j5 |
A |
G |
4: 96,552,160 (GRCm39) |
F30L |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,532,485 (GRCm39) |
V3134E |
probably damaging |
Het |
| Il2ra |
T |
C |
2: 11,687,910 (GRCm39) |
V230A |
probably benign |
Het |
| Mgst2 |
C |
T |
3: 51,589,999 (GRCm39) |
P146S |
probably benign |
Het |
| Myrfl |
T |
C |
10: 116,685,264 (GRCm39) |
|
probably benign |
Het |
| Nat8f5 |
A |
C |
6: 85,794,279 (GRCm39) |
L227R |
probably damaging |
Het |
| Papln |
A |
G |
12: 83,817,210 (GRCm39) |
S27G |
possibly damaging |
Het |
| Paqr7 |
A |
G |
4: 134,234,278 (GRCm39) |
Y45C |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,151,408 (GRCm39) |
|
probably null |
Het |
| Plrg1 |
C |
T |
3: 82,975,642 (GRCm39) |
T295I |
probably damaging |
Het |
| Spata31e2 |
T |
C |
1: 26,722,670 (GRCm39) |
I837V |
possibly damaging |
Het |
| Sypl1 |
T |
A |
12: 33,015,505 (GRCm39) |
|
probably benign |
Het |
| Tmco3 |
T |
A |
8: 13,342,825 (GRCm39) |
V187E |
probably damaging |
Het |
| Trmt2b |
T |
C |
X: 133,168,154 (GRCm39) |
I47M |
possibly damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,916,438 (GRCm39) |
N350K |
probably benign |
Het |
| Zfp687 |
A |
G |
3: 94,916,496 (GRCm39) |
L842P |
probably damaging |
Het |
|
| Other mutations in Osbpl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00674:Osbpl2
|
APN |
2 |
179,792,051 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL01385:Osbpl2
|
APN |
2 |
179,778,873 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01449:Osbpl2
|
APN |
2 |
179,786,987 (GRCm39) |
splice site |
probably benign |
|
|
R0735:Osbpl2
|
UTSW |
2 |
179,792,083 (GRCm39) |
splice site |
probably benign |
|
|
R1315:Osbpl2
|
UTSW |
2 |
179,790,395 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1583:Osbpl2
|
UTSW |
2 |
179,790,256 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2023:Osbpl2
|
UTSW |
2 |
179,791,969 (GRCm39) |
splice site |
probably null |
|
|
R2276:Osbpl2
|
UTSW |
2 |
179,790,319 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R3737:Osbpl2
|
UTSW |
2 |
179,803,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3739:Osbpl2
|
UTSW |
2 |
179,803,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4035:Osbpl2
|
UTSW |
2 |
179,803,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6111:Osbpl2
|
UTSW |
2 |
179,791,994 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7324:Osbpl2
|
UTSW |
2 |
179,791,994 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7400:Osbpl2
|
UTSW |
2 |
179,795,114 (GRCm39) |
missense |
probably benign |
|
|
R8379:Osbpl2
|
UTSW |
2 |
179,778,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8508:Osbpl2
|
UTSW |
2 |
179,797,136 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Posted On |
2012-12-06 |
Incidental Mutation