Incidental Mutation 'IGL00229:Osbpl3'
| ID |
2384 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Osbpl3
|
| Ensembl Gene |
ENSMUSG00000029822 |
| Gene Name |
oxysterol binding protein-like 3 |
| Synonyms |
ORP3, 1200014M06Rik, 6720421I08Rik, OSBP3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00229
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
50270310-50433181 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 50300048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 519
(E519K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071728]
[ENSMUST00000090019]
[ENSMUST00000114466]
[ENSMUST00000114468]
[ENSMUST00000203907]
|
| AlphaFold |
Q9DBS9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071728
AA Change: E483K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071643
Gene: ENSMUSG00000029822
AA Change: E483K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
33 |
N/A |
INTRINSIC |
|
PH
|
51 |
147 |
9.56e-11 |
SMART |
|
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
|
Blast:PH
|
254 |
311 |
4e-25 |
BLAST |
|
low complexity region
|
392 |
425 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
459 |
804 |
3.2e-139 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090019
AA Change: E550K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087473
Gene: ENSMUSG00000029822
AA Change: E550K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
33 |
N/A |
INTRINSIC |
|
PH
|
51 |
147 |
9.56e-11 |
SMART |
|
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
|
Blast:PH
|
288 |
342 |
4e-25 |
BLAST |
|
low complexity region
|
459 |
492 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
526 |
870 |
3e-136 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114466
AA Change: E514K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110110
Gene: ENSMUSG00000029822
AA Change: E514K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
33 |
N/A |
INTRINSIC |
|
PH
|
51 |
147 |
9.56e-11 |
SMART |
|
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
|
Blast:PH
|
288 |
342 |
3e-25 |
BLAST |
|
low complexity region
|
423 |
456 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
490 |
835 |
3.5e-139 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114468
AA Change: E519K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110112
Gene: ENSMUSG00000029822
AA Change: E519K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
33 |
N/A |
INTRINSIC |
|
PH
|
51 |
147 |
9.56e-11 |
SMART |
|
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
|
Blast:PH
|
254 |
311 |
4e-25 |
BLAST |
|
low complexity region
|
428 |
461 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
495 |
840 |
1.3e-138 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133141
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203907
|
| SMART Domains |
Protein: ENSMUSP00000145249
Gene: ENSMUSG00000029822
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
91 |
1e-57 |
BLAST |
|
low complexity region
|
208 |
241 |
N/A |
INTRINSIC |
|
| 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. The encoded protein is involved in the regulation of cell adhesion and organization of the actin cytoskeleton. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,964,603 (GRCm39) |
T929A |
probably damaging |
Het |
| Adam6b |
G |
A |
12: 113,455,013 (GRCm39) |
R610H |
probably damaging |
Het |
| Adamts12 |
T |
A |
15: 11,311,685 (GRCm39) |
M1314K |
probably benign |
Het |
| Alg6 |
T |
A |
4: 99,641,291 (GRCm39) |
F152I |
probably damaging |
Het |
| Aopep |
A |
G |
13: 63,347,314 (GRCm39) |
|
probably benign |
Het |
| Arid5b |
A |
G |
10: 67,964,805 (GRCm39) |
S289P |
probably damaging |
Het |
| Axin1 |
T |
C |
17: 26,413,046 (GRCm39) |
F780L |
probably damaging |
Het |
| C9 |
C |
T |
15: 6,512,712 (GRCm39) |
S278L |
possibly damaging |
Het |
| Calr4 |
A |
T |
4: 109,101,312 (GRCm39) |
I65F |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,359,327 (GRCm39) |
V260A |
probably benign |
Het |
| Ddx25 |
T |
C |
9: 35,454,891 (GRCm39) |
|
probably benign |
Het |
| Dppa4 |
A |
G |
16: 48,111,446 (GRCm39) |
T92A |
possibly damaging |
Het |
| Ercc5 |
T |
C |
1: 44,203,058 (GRCm39) |
Y232H |
probably damaging |
Het |
| Exoc4 |
A |
G |
6: 33,895,334 (GRCm39) |
|
probably null |
Het |
| Fam149a |
A |
G |
8: 45,804,823 (GRCm39) |
V253A |
probably damaging |
Het |
| Fam209 |
C |
T |
2: 172,316,102 (GRCm39) |
T159I |
probably damaging |
Het |
| Gcfc2 |
A |
T |
6: 81,912,996 (GRCm39) |
N265I |
probably damaging |
Het |
| Glud1 |
T |
C |
14: 34,058,087 (GRCm39) |
V366A |
probably benign |
Het |
| Hdac10 |
T |
C |
15: 89,012,645 (GRCm39) |
T3A |
probably damaging |
Het |
| Ifnar1 |
T |
C |
16: 91,286,670 (GRCm39) |
S54P |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,045,683 (GRCm39) |
Y2561C |
probably damaging |
Het |
| Klhl30 |
A |
G |
1: 91,281,879 (GRCm39) |
E160G |
possibly damaging |
Het |
| Kmt2d |
A |
T |
15: 98,760,214 (GRCm39) |
S1015T |
unknown |
Het |
| Lactb2 |
A |
G |
1: 13,730,598 (GRCm39) |
M26T |
probably damaging |
Het |
| Lactbl1 |
A |
T |
4: 136,358,362 (GRCm39) |
D111V |
probably damaging |
Het |
| Lig4 |
T |
C |
8: 10,022,775 (GRCm39) |
Y335C |
probably damaging |
Het |
| Lrrc8e |
T |
A |
8: 4,285,921 (GRCm39) |
D715E |
probably benign |
Het |
| Med6 |
A |
T |
12: 81,626,348 (GRCm39) |
V142D |
possibly damaging |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mettl13 |
A |
G |
1: 162,363,434 (GRCm39) |
V600A |
possibly damaging |
Het |
| Mpdz |
A |
T |
4: 81,228,461 (GRCm39) |
C1314* |
probably null |
Het |
| Nbeal2 |
A |
G |
9: 110,464,937 (GRCm39) |
V1009A |
probably damaging |
Het |
| Nmur2 |
A |
G |
11: 55,931,603 (GRCm39) |
L36P |
probably damaging |
Het |
| Nudt2 |
T |
A |
4: 41,480,474 (GRCm39) |
L119Q |
probably damaging |
Het |
| Or5b117 |
T |
C |
19: 13,431,204 (GRCm39) |
M226V |
possibly damaging |
Het |
| Pak6 |
A |
T |
2: 118,520,326 (GRCm39) |
T106S |
possibly damaging |
Het |
| Pggt1b |
T |
G |
18: 46,413,786 (GRCm39) |
Q34P |
probably benign |
Het |
| Phactr4 |
T |
C |
4: 132,098,303 (GRCm39) |
T322A |
possibly damaging |
Het |
| Plekhj1 |
T |
C |
10: 80,632,436 (GRCm39) |
|
probably null |
Het |
| Pnpt1 |
T |
C |
11: 29,104,217 (GRCm39) |
|
probably null |
Het |
| Pramel32 |
A |
G |
4: 88,547,290 (GRCm39) |
I214T |
probably damaging |
Het |
| Prr14l |
T |
C |
5: 32,988,020 (GRCm39) |
I492V |
probably benign |
Het |
| Ranbp2 |
C |
A |
10: 58,313,078 (GRCm39) |
A1266E |
probably damaging |
Het |
| Riok3 |
G |
A |
18: 12,270,077 (GRCm39) |
D140N |
probably damaging |
Het |
| Rsph4a |
G |
A |
10: 33,790,339 (GRCm39) |
E643K |
probably damaging |
Het |
| Scara3 |
T |
G |
14: 66,170,570 (GRCm39) |
E103A |
probably benign |
Het |
| Sgk3 |
T |
C |
1: 9,938,609 (GRCm39) |
V33A |
probably damaging |
Het |
| Slc38a4 |
A |
G |
15: 96,897,375 (GRCm39) |
F480S |
probably damaging |
Het |
| Slc44a1 |
G |
A |
4: 53,543,571 (GRCm39) |
V372M |
probably damaging |
Het |
| Slc9a2 |
A |
G |
1: 40,806,897 (GRCm39) |
Y728C |
probably benign |
Het |
| Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
| Spidr |
A |
T |
16: 15,713,442 (GRCm39) |
L847Q |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,667,527 (GRCm39) |
S857P |
probably benign |
Het |
| Syde1 |
A |
G |
10: 78,421,643 (GRCm39) |
V636A |
probably damaging |
Het |
| Syna |
A |
G |
5: 134,588,571 (GRCm39) |
L126P |
possibly damaging |
Het |
| Taar2 |
A |
G |
10: 23,817,266 (GRCm39) |
T269A |
possibly damaging |
Het |
| Tapbp |
C |
T |
17: 34,144,678 (GRCm39) |
T258I |
probably damaging |
Het |
| Tcf20 |
T |
A |
15: 82,741,343 (GRCm39) |
Q36L |
possibly damaging |
Het |
| Tmem131l |
A |
T |
3: 83,849,807 (GRCm39) |
M260K |
probably damaging |
Het |
| Tnc |
T |
A |
4: 63,935,061 (GRCm39) |
|
probably benign |
Het |
| Ugp2 |
T |
A |
11: 21,304,345 (GRCm39) |
E27D |
probably benign |
Het |
| Vps35l |
T |
A |
7: 118,403,414 (GRCm39) |
|
probably benign |
Het |
| Wdr27 |
A |
T |
17: 15,148,572 (GRCm39) |
C140* |
probably null |
Het |
| Wnt2b |
T |
C |
3: 104,860,449 (GRCm39) |
T153A |
possibly damaging |
Het |
| Xirp2 |
A |
T |
2: 67,343,719 (GRCm39) |
T1987S |
probably benign |
Het |
| Zfp36l1 |
C |
A |
12: 80,157,238 (GRCm39) |
G48C |
probably damaging |
Het |
| Zfp474 |
A |
T |
18: 52,771,565 (GRCm39) |
I73F |
possibly damaging |
Het |
| Zfp790 |
T |
A |
7: 29,527,988 (GRCm39) |
F224L |
probably benign |
Het |
|
| Other mutations in Osbpl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01784:Osbpl3
|
APN |
6 |
50,321,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02221:Osbpl3
|
APN |
6 |
50,304,347 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02323:Osbpl3
|
APN |
6 |
50,323,306 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02894:Osbpl3
|
APN |
6 |
50,323,312 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
H8562:Osbpl3
|
UTSW |
6 |
50,324,446 (GRCm39) |
missense |
probably benign |
0.09 |
|
PIT4283001:Osbpl3
|
UTSW |
6 |
50,323,068 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0226:Osbpl3
|
UTSW |
6 |
50,329,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0416:Osbpl3
|
UTSW |
6 |
50,324,998 (GRCm39) |
missense |
probably benign |
|
|
R0417:Osbpl3
|
UTSW |
6 |
50,324,998 (GRCm39) |
missense |
probably benign |
|
|
R0601:Osbpl3
|
UTSW |
6 |
50,276,383 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0826:Osbpl3
|
UTSW |
6 |
50,323,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1390:Osbpl3
|
UTSW |
6 |
50,285,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1520:Osbpl3
|
UTSW |
6 |
50,323,411 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1603:Osbpl3
|
UTSW |
6 |
50,300,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1678:Osbpl3
|
UTSW |
6 |
50,313,193 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1843:Osbpl3
|
UTSW |
6 |
50,347,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1943:Osbpl3
|
UTSW |
6 |
50,297,054 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3435:Osbpl3
|
UTSW |
6 |
50,325,050 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3768:Osbpl3
|
UTSW |
6 |
50,324,982 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4746:Osbpl3
|
UTSW |
6 |
50,305,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4751:Osbpl3
|
UTSW |
6 |
50,277,977 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4776:Osbpl3
|
UTSW |
6 |
50,277,953 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4814:Osbpl3
|
UTSW |
6 |
50,329,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4841:Osbpl3
|
UTSW |
6 |
50,286,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4881:Osbpl3
|
UTSW |
6 |
50,329,764 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4999:Osbpl3
|
UTSW |
6 |
50,313,277 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5512:Osbpl3
|
UTSW |
6 |
50,286,340 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6282:Osbpl3
|
UTSW |
6 |
50,325,063 (GRCm39) |
splice site |
probably null |
|
|
R6304:Osbpl3
|
UTSW |
6 |
50,289,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6905:Osbpl3
|
UTSW |
6 |
50,328,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7000:Osbpl3
|
UTSW |
6 |
50,274,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7102:Osbpl3
|
UTSW |
6 |
50,297,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7275:Osbpl3
|
UTSW |
6 |
50,323,410 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7334:Osbpl3
|
UTSW |
6 |
50,321,886 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7368:Osbpl3
|
UTSW |
6 |
50,325,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8052:Osbpl3
|
UTSW |
6 |
50,322,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8183:Osbpl3
|
UTSW |
6 |
50,280,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8810:Osbpl3
|
UTSW |
6 |
50,328,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8932:Osbpl3
|
UTSW |
6 |
50,304,371 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9168:Osbpl3
|
UTSW |
6 |
50,329,762 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9447:Osbpl3
|
UTSW |
6 |
50,321,857 (GRCm39) |
nonsense |
probably null |
|
|
R9476:Osbpl3
|
UTSW |
6 |
50,313,194 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9510:Osbpl3
|
UTSW |
6 |
50,313,194 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9788:Osbpl3
|
UTSW |
6 |
50,324,344 (GRCm39) |
critical splice donor site |
probably null |
|
|
RF011:Osbpl3
|
UTSW |
6 |
50,325,118 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
Z1088:Osbpl3
|
UTSW |
6 |
50,274,077 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2011-12-09 |
Incidental Mutation