Incidental Mutation 'R0368:Osbpl9'
| ID |
30314 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl9
|
| Ensembl Gene |
ENSMUSG00000028559 |
| Gene Name |
oxysterol binding protein-like 9 |
| Synonyms |
ORP-9, 2600011I06Rik |
| MMRRC Submission |
038574-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0368 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
108918342-109059469 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108924129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 499
(V499A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030288]
[ENSMUST00000084366]
[ENSMUST00000159545]
[ENSMUST00000162787]
[ENSMUST00000160271]
[ENSMUST00000160774]
[ENSMUST00000194478]
[ENSMUST00000161363]
|
| AlphaFold |
A2A8Z1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030288
AA Change: V499A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030288
Gene: ENSMUSG00000028559
AA Change: V499A
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
3 |
101 |
8.5e-17 |
SMART |
|
low complexity region
|
253 |
274 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
301 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
362 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
377 |
729 |
7.3e-79 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084366
AA Change: V402A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000081396
Gene: ENSMUSG00000028559
AA Change: V402A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
156 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
265 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
277 |
634 |
7.2e-82 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126288
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139412
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155434
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159198
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159545
|
| SMART Domains |
Protein: ENSMUSP00000123856
Gene: ENSMUSG00000028559
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
3 |
54 |
6e-33 |
BLAST |
|
SCOP:d1pls__
|
4 |
46 |
9e-8 |
SMART |
|
PDB:2KCJ|A
|
4 |
55 |
1e-10 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162787
AA Change: V486A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124370
Gene: ENSMUSG00000028559
AA Change: V486A
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
3 |
101 |
8.5e-17 |
SMART |
|
low complexity region
|
240 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
288 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
349 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
361 |
718 |
2.8e-82 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160271
AA Change: V389A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124112
Gene: ENSMUSG00000028559
AA Change: V389A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
143 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
175 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
252 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
264 |
621 |
4.7e-82 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160774
AA Change: V482A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124742
Gene: ENSMUSG00000028559
AA Change: V482A
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
3 |
84 |
6.46e-8 |
SMART |
|
low complexity region
|
236 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
268 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
345 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
357 |
714 |
2.8e-82 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194478
AA Change: V509A
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141991
Gene: ENSMUSG00000028559
AA Change: V509A
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
3 |
101 |
3.7e-19 |
SMART |
|
low complexity region
|
263 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
372 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
384 |
741 |
2e-79 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161363
AA Change: V419A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125714
Gene: ENSMUSG00000028559
AA Change: V419A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
13 |
34 |
3e-6 |
BLAST |
|
low complexity region
|
173 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
282 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
294 |
651 |
2.2e-82 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
| 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 some members contain only the sterol-binding domain. This family member functions as a cholesterol transfer protein that regulates Golgi structure and function. Multiple transcript variants, most of which encode distinct isoforms, have been identified. Related pseudogenes have been identified on chromosomes 3, 11 and 12. [provided by RefSeq, Jul 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
T |
19: 8,985,714 (GRCm39) |
K2333* |
probably null |
Het |
| Aox4 |
C |
T |
1: 58,252,238 (GRCm39) |
L38F |
probably benign |
Het |
| Arhgef15 |
T |
C |
11: 68,845,519 (GRCm39) |
E111G |
probably damaging |
Het |
| Atp8a2 |
A |
T |
14: 60,097,661 (GRCm39) |
I789N |
probably damaging |
Het |
| Cdca2 |
A |
G |
14: 67,937,796 (GRCm39) |
S286P |
possibly damaging |
Het |
| Chrnb1 |
T |
A |
11: 69,675,583 (GRCm39) |
K457M |
probably damaging |
Het |
| Cimip2a |
T |
A |
2: 25,110,685 (GRCm39) |
D164E |
probably benign |
Het |
| Clec2g |
A |
G |
6: 128,957,224 (GRCm39) |
I61V |
possibly damaging |
Het |
| Cyb5r3 |
G |
A |
15: 83,042,993 (GRCm39) |
A233V |
probably benign |
Het |
| Cyp4a10 |
T |
A |
4: 115,382,574 (GRCm39) |
L278* |
probably null |
Het |
| Dnmt1 |
T |
C |
9: 20,853,053 (GRCm39) |
E56G |
probably damaging |
Het |
| Fbln5 |
A |
G |
12: 101,775,973 (GRCm39) |
|
probably null |
Het |
| Fhip2a |
A |
G |
19: 57,357,010 (GRCm39) |
T34A |
possibly damaging |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gabrr3 |
A |
G |
16: 59,260,959 (GRCm39) |
D289G |
probably damaging |
Het |
| Gpr45 |
T |
C |
1: 43,072,176 (GRCm39) |
L273P |
probably damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,247,486 (GRCm39) |
E125G |
probably null |
Het |
| Il25 |
A |
G |
14: 55,172,631 (GRCm39) |
|
probably null |
Het |
| Itfg1 |
A |
T |
8: 86,491,036 (GRCm39) |
W298R |
probably damaging |
Het |
| Kank1 |
A |
T |
19: 25,387,967 (GRCm39) |
K547* |
probably null |
Het |
| Lama5 |
G |
A |
2: 179,823,023 (GRCm39) |
R2748* |
probably null |
Het |
| Lrp4 |
C |
T |
2: 91,308,079 (GRCm39) |
T508I |
probably damaging |
Het |
| Map3k10 |
C |
T |
7: 27,362,785 (GRCm39) |
V434I |
probably damaging |
Het |
| Map3k6 |
A |
G |
4: 132,979,970 (GRCm39) |
M1265V |
probably benign |
Het |
| Mocs3 |
C |
T |
2: 168,073,602 (GRCm39) |
P350S |
probably benign |
Het |
| Msh4 |
T |
A |
3: 153,594,462 (GRCm39) |
Y113F |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Nrip1 |
A |
G |
16: 76,090,904 (GRCm39) |
S218P |
probably damaging |
Het |
| Olig1 |
C |
T |
16: 91,067,540 (GRCm39) |
S259F |
probably damaging |
Het |
| Or4k37 |
T |
C |
2: 111,159,132 (GRCm39) |
Y123H |
probably damaging |
Het |
| Or4k41 |
T |
C |
2: 111,280,133 (GRCm39) |
I216T |
probably benign |
Het |
| Pafah2 |
T |
C |
4: 134,149,802 (GRCm39) |
V371A |
probably benign |
Het |
| Pkp1 |
T |
A |
1: 135,803,421 (GRCm39) |
M712L |
probably benign |
Het |
| Pkp1 |
T |
C |
1: 135,814,590 (GRCm39) |
S244G |
probably benign |
Het |
| Ppp1r3a |
T |
C |
6: 14,718,959 (GRCm39) |
T652A |
probably benign |
Het |
| Rab21 |
A |
T |
10: 115,134,795 (GRCm39) |
V108E |
probably damaging |
Het |
| Rab5b |
C |
T |
10: 128,518,772 (GRCm39) |
R120Q |
probably benign |
Het |
| Scd2 |
G |
A |
19: 44,289,685 (GRCm39) |
V227I |
probably benign |
Het |
| Sema5b |
T |
A |
16: 35,448,470 (GRCm39) |
V82E |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Slc13a2 |
A |
T |
11: 78,295,626 (GRCm39) |
L80* |
probably null |
Het |
| Slc1a5 |
C |
T |
7: 16,516,103 (GRCm39) |
P93L |
probably damaging |
Het |
| Slc35b2 |
T |
C |
17: 45,877,389 (GRCm39) |
V172A |
probably benign |
Het |
| Slfn8 |
A |
G |
11: 82,907,958 (GRCm39) |
L195P |
probably damaging |
Het |
| Smox |
G |
A |
2: 131,364,078 (GRCm39) |
S320N |
probably damaging |
Het |
| Sptan1 |
T |
C |
2: 29,883,927 (GRCm39) |
V589A |
probably benign |
Het |
| Stim2 |
G |
A |
5: 54,267,482 (GRCm39) |
|
probably null |
Het |
| V1ra8 |
A |
G |
6: 90,179,944 (GRCm39) |
D49G |
probably damaging |
Het |
| Vmn1r233 |
A |
T |
17: 21,214,869 (GRCm39) |
V27D |
possibly damaging |
Het |
| Vmn2r98 |
A |
T |
17: 19,286,089 (GRCm39) |
K196* |
probably null |
Het |
| Wdr77 |
T |
C |
3: 105,869,382 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Osbpl9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00722:Osbpl9
|
APN |
4 |
108,929,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00793:Osbpl9
|
APN |
4 |
108,944,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00809:Osbpl9
|
APN |
4 |
108,990,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02071:Osbpl9
|
APN |
4 |
108,929,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02547:Osbpl9
|
APN |
4 |
108,925,680 (GRCm39) |
nonsense |
probably null |
|
|
IGL02822:Osbpl9
|
APN |
4 |
108,930,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03074:Osbpl9
|
APN |
4 |
108,929,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03193:Osbpl9
|
APN |
4 |
108,924,163 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03196:Osbpl9
|
APN |
4 |
108,930,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03306:Osbpl9
|
APN |
4 |
109,029,529 (GRCm39) |
splice site |
probably benign |
|
|
IGL03323:Osbpl9
|
APN |
4 |
108,919,656 (GRCm39) |
splice site |
probably benign |
|
|
Oblong
|
UTSW |
4 |
108,948,876 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0211:Osbpl9
|
UTSW |
4 |
108,930,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0620:Osbpl9
|
UTSW |
4 |
108,940,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1439:Osbpl9
|
UTSW |
4 |
108,958,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1711:Osbpl9
|
UTSW |
4 |
108,923,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1757:Osbpl9
|
UTSW |
4 |
108,921,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2237:Osbpl9
|
UTSW |
4 |
109,013,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2295:Osbpl9
|
UTSW |
4 |
109,059,331 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2418:Osbpl9
|
UTSW |
4 |
108,923,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3111:Osbpl9
|
UTSW |
4 |
108,940,290 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4202:Osbpl9
|
UTSW |
4 |
109,029,437 (GRCm39) |
intron |
probably benign |
|
|
R4672:Osbpl9
|
UTSW |
4 |
108,921,806 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4706:Osbpl9
|
UTSW |
4 |
109,013,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4856:Osbpl9
|
UTSW |
4 |
108,925,564 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4886:Osbpl9
|
UTSW |
4 |
108,925,564 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5035:Osbpl9
|
UTSW |
4 |
108,923,364 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5309:Osbpl9
|
UTSW |
4 |
108,923,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5400:Osbpl9
|
UTSW |
4 |
108,919,497 (GRCm39) |
nonsense |
probably null |
|
|
R5719:Osbpl9
|
UTSW |
4 |
108,919,763 (GRCm39) |
nonsense |
probably null |
|
|
R5810:Osbpl9
|
UTSW |
4 |
108,943,571 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6237:Osbpl9
|
UTSW |
4 |
109,013,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6575:Osbpl9
|
UTSW |
4 |
108,930,129 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6648:Osbpl9
|
UTSW |
4 |
108,948,876 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6675:Osbpl9
|
UTSW |
4 |
108,991,025 (GRCm39) |
splice site |
probably null |
|
|
R7130:Osbpl9
|
UTSW |
4 |
108,940,296 (GRCm39) |
missense |
probably benign |
|
|
R7356:Osbpl9
|
UTSW |
4 |
108,925,677 (GRCm39) |
nonsense |
probably null |
|
|
R7615:Osbpl9
|
UTSW |
4 |
108,943,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7753:Osbpl9
|
UTSW |
4 |
108,990,970 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7772:Osbpl9
|
UTSW |
4 |
108,923,384 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7788:Osbpl9
|
UTSW |
4 |
108,919,691 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8083:Osbpl9
|
UTSW |
4 |
108,943,572 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8143:Osbpl9
|
UTSW |
4 |
108,922,906 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8323:Osbpl9
|
UTSW |
4 |
108,965,119 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8331:Osbpl9
|
UTSW |
4 |
108,923,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8406:Osbpl9
|
UTSW |
4 |
108,921,770 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8531:Osbpl9
|
UTSW |
4 |
109,013,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8715:Osbpl9
|
UTSW |
4 |
108,959,773 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8888:Osbpl9
|
UTSW |
4 |
108,930,333 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8895:Osbpl9
|
UTSW |
4 |
108,930,333 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9079:Osbpl9
|
UTSW |
4 |
108,920,644 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9379:Osbpl9
|
UTSW |
4 |
108,940,399 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9775:Osbpl9
|
UTSW |
4 |
109,013,747 (GRCm39) |
intron |
probably benign |
|
|
Z1177:Osbpl9
|
UTSW |
4 |
108,965,077 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGACAAGTGTTAGTTCCCCACCCC -3'
(R):5'- GGTGCAATGTTCAGTGCATACAAGG -3'
Sequencing Primer
(F):5'- CCCACCCCCTTCATTCTATG -3'
(R):5'- GCTCATGTTAGGTACATGAAGCC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation