Incidental Mutation 'IGL01385:Osbpl2'
| ID |
79029 |
| 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: 0.172)
|
| Stock # |
IGL01385
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
179761099-179804473 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 179778873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 2
(N2S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046538
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040668]
|
| AlphaFold |
Q8BX94 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040668
AA Change: N2S
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000046538
Gene: ENSMUSG00000039050
AA Change: N2S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
75 |
474 |
8.4e-143 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140210
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
T |
19: 57,057,346 (GRCm39) |
S292R |
probably damaging |
Het |
| Adamts19 |
A |
G |
18: 59,105,851 (GRCm39) |
T749A |
probably damaging |
Het |
| Agap2 |
A |
T |
10: 126,923,865 (GRCm39) |
I747F |
unknown |
Het |
| Arhgap35 |
T |
A |
7: 16,298,399 (GRCm39) |
N222I |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,125,256 (GRCm39) |
E1074G |
probably damaging |
Het |
| Brd3 |
T |
C |
2: 27,354,101 (GRCm39) |
T4A |
possibly damaging |
Het |
| Col6a6 |
A |
G |
9: 105,660,865 (GRCm39) |
S415P |
probably damaging |
Het |
| Dennd2a |
A |
G |
6: 39,500,070 (GRCm39) |
V165A |
probably damaging |
Het |
| Dnm1l |
T |
A |
16: 16,159,317 (GRCm39) |
E95V |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,817,995 (GRCm39) |
Y1609H |
possibly damaging |
Het |
| Esm1 |
A |
C |
13: 113,353,216 (GRCm39) |
E166A |
possibly damaging |
Het |
| F2rl2 |
A |
C |
13: 95,837,836 (GRCm39) |
I294L |
probably benign |
Het |
| Gstt3 |
A |
G |
10: 75,610,822 (GRCm39) |
S187P |
probably benign |
Het |
| Katna1 |
T |
C |
10: 7,628,574 (GRCm39) |
C268R |
probably damaging |
Het |
| Mbd5 |
T |
A |
2: 49,140,233 (GRCm39) |
C66S |
possibly damaging |
Het |
| Naa35 |
G |
A |
13: 59,748,880 (GRCm39) |
E167K |
probably damaging |
Het |
| Or10ak16 |
T |
C |
4: 118,750,748 (GRCm39) |
L156S |
probably benign |
Het |
| Parp6 |
T |
C |
9: 59,537,895 (GRCm39) |
|
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,267 (GRCm39) |
V549E |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,620,520 (GRCm39) |
L780P |
probably damaging |
Het |
| Plcb3 |
A |
T |
19: 6,935,276 (GRCm39) |
D851E |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,749,560 (GRCm39) |
S1149G |
probably damaging |
Het |
| Prkca |
A |
G |
11: 107,869,178 (GRCm39) |
V469A |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,756,410 (GRCm39) |
V3468D |
probably damaging |
Het |
| Spmip3 |
G |
A |
1: 177,568,640 (GRCm39) |
G46R |
probably benign |
Het |
| Stxbp4 |
A |
G |
11: 90,431,074 (GRCm39) |
V412A |
possibly damaging |
Het |
| Vmn1r238 |
G |
T |
18: 3,122,770 (GRCm39) |
Q215K |
possibly damaging |
Het |
| Wdr11 |
A |
G |
7: 129,209,637 (GRCm39) |
M482V |
probably benign |
Het |
| Wdr72 |
T |
C |
9: 74,086,788 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,340,021 (GRCm39) |
L754P |
probably damaging |
Het |
| Zmym6 |
G |
A |
4: 127,017,899 (GRCm39) |
G1135S |
probably benign |
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 |
|
IGL00824:Osbpl2
|
APN |
2 |
179,792,060 (GRCm39) |
missense |
probably benign |
0.08 |
|
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 |
2013-11-05 |
Incidental Mutation