Incidental Mutation 'R1459:Osbpl6'
ID |
161941 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Osbpl6
|
Ensembl Gene |
ENSMUSG00000042359 |
Gene Name |
oxysterol binding protein-like 6 |
Synonyms |
1110062M20Rik, ORP-6 |
MMRRC Submission |
039514-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.520)
|
Stock # |
R1459 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
76236852-76430991 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 76385409 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 281
(N281S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077123
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077972]
[ENSMUST00000111929]
[ENSMUST00000111930]
[ENSMUST00000184442]
|
AlphaFold |
Q8BXR9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077972
AA Change: N281S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000077123 Gene: ENSMUSG00000042359 AA Change: N281S
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
35 |
N/A |
INTRINSIC |
PH
|
87 |
183 |
3.65e-7 |
SMART |
low complexity region
|
200 |
211 |
N/A |
INTRINSIC |
coiled coil region
|
255 |
285 |
N/A |
INTRINSIC |
low complexity region
|
537 |
550 |
N/A |
INTRINSIC |
Pfam:Oxysterol_BP
|
603 |
951 |
1.4e-135 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111929
AA Change: N281S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000107560 Gene: ENSMUSG00000042359 AA Change: N281S
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
35 |
N/A |
INTRINSIC |
PH
|
87 |
183 |
3.65e-7 |
SMART |
low complexity region
|
200 |
211 |
N/A |
INTRINSIC |
coiled coil region
|
255 |
285 |
N/A |
INTRINSIC |
coiled coil region
|
441 |
472 |
N/A |
INTRINSIC |
low complexity region
|
529 |
542 |
N/A |
INTRINSIC |
Pfam:Oxysterol_BP
|
595 |
944 |
1.1e-139 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111930
AA Change: N281S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000107561 Gene: ENSMUSG00000042359 AA Change: N281S
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
35 |
N/A |
INTRINSIC |
PH
|
87 |
183 |
3.65e-7 |
SMART |
low complexity region
|
200 |
211 |
N/A |
INTRINSIC |
coiled coil region
|
255 |
285 |
N/A |
INTRINSIC |
coiled coil region
|
410 |
441 |
N/A |
INTRINSIC |
low complexity region
|
498 |
511 |
N/A |
INTRINSIC |
Pfam:Oxysterol_BP
|
564 |
913 |
1e-139 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184442
AA Change: N168S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000139363 Gene: ENSMUSG00000042359 AA Change: N168S
Domain | Start | End | E-Value | Type |
Blast:PH
|
1 |
70 |
8e-41 |
BLAST |
low complexity region
|
87 |
98 |
N/A |
INTRINSIC |
coiled coil region
|
142 |
172 |
N/A |
INTRINSIC |
coiled coil region
|
303 |
334 |
N/A |
INTRINSIC |
low complexity region
|
391 |
404 |
N/A |
INTRINSIC |
Pfam:Oxysterol_BP
|
457 |
794 |
2.6e-135 |
PFAM |
|
Meta Mutation Damage Score |
0.0684 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.5%
|
Validation Efficiency |
96% (87/91) |
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. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
All alleles(2) : Gene trapped(2)
|
Other mutations in this stock |
Total: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933430I17Rik |
C |
T |
4: 62,450,578 (GRCm39) |
R51W |
probably damaging |
Het |
Abcb1a |
T |
A |
5: 8,752,920 (GRCm39) |
L557Q |
probably damaging |
Het |
Abcb4 |
T |
C |
5: 8,968,662 (GRCm39) |
F334L |
possibly damaging |
Het |
Adamts14 |
T |
A |
10: 61,034,583 (GRCm39) |
T1102S |
probably benign |
Het |
Adamtsl1 |
T |
C |
4: 86,344,102 (GRCm39) |
Y1719H |
probably damaging |
Het |
Adcyap1 |
T |
C |
17: 93,507,550 (GRCm39) |
|
probably null |
Het |
Ankrd13c |
T |
A |
3: 157,677,947 (GRCm39) |
L219Q |
probably damaging |
Het |
Ano3 |
C |
A |
2: 110,711,174 (GRCm39) |
A97S |
probably benign |
Het |
Apaf1 |
T |
C |
10: 90,898,022 (GRCm39) |
N245S |
probably benign |
Het |
Apob |
A |
G |
12: 8,056,047 (GRCm39) |
T1510A |
probably benign |
Het |
Apob |
A |
G |
12: 8,061,937 (GRCm39) |
D3473G |
possibly damaging |
Het |
Arfgap3 |
G |
A |
15: 83,191,138 (GRCm39) |
T12I |
probably benign |
Het |
Bend4 |
A |
G |
5: 67,557,418 (GRCm39) |
V466A |
probably damaging |
Het |
Bend7 |
G |
A |
2: 4,749,239 (GRCm39) |
E119K |
probably damaging |
Het |
Capn5 |
G |
T |
7: 97,781,049 (GRCm39) |
R243S |
possibly damaging |
Het |
Cd84 |
A |
G |
1: 171,679,510 (GRCm39) |
I63V |
probably benign |
Het |
Cd86 |
T |
A |
16: 36,449,350 (GRCm39) |
T16S |
probably benign |
Het |
Cdc42bpb |
A |
G |
12: 111,262,734 (GRCm39) |
|
probably benign |
Het |
Cep20 |
G |
A |
16: 14,122,380 (GRCm39) |
T128I |
possibly damaging |
Het |
Cep95 |
C |
T |
11: 106,708,781 (GRCm39) |
S26L |
probably damaging |
Het |
Cldn19 |
C |
T |
4: 119,112,810 (GRCm39) |
A14V |
probably damaging |
Het |
Cluap1 |
T |
A |
16: 3,755,453 (GRCm39) |
M356K |
probably damaging |
Het |
Coq7 |
C |
T |
7: 118,109,260 (GRCm39) |
G263S |
unknown |
Het |
Ctnnd2 |
A |
C |
15: 30,847,445 (GRCm39) |
T679P |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,820,750 (GRCm39) |
D528G |
possibly damaging |
Het |
Dvl1 |
T |
A |
4: 155,938,476 (GRCm39) |
N133K |
probably damaging |
Het |
Efcab7 |
T |
G |
4: 99,769,744 (GRCm39) |
H550Q |
probably null |
Het |
Fastkd5 |
C |
T |
2: 130,456,717 (GRCm39) |
M624I |
probably damaging |
Het |
Fbxo42 |
T |
C |
4: 140,895,073 (GRCm39) |
V12A |
probably benign |
Het |
Gabarapl1 |
T |
A |
6: 129,515,635 (GRCm39) |
M91K |
possibly damaging |
Het |
Gas7 |
A |
G |
11: 67,552,902 (GRCm39) |
N154S |
probably damaging |
Het |
Gm21814 |
T |
A |
6: 149,483,650 (GRCm39) |
|
noncoding transcript |
Het |
Gnl3 |
G |
A |
14: 30,739,803 (GRCm39) |
R12C |
probably damaging |
Het |
Golga2 |
T |
G |
2: 32,187,807 (GRCm39) |
|
probably null |
Het |
Grk3 |
T |
A |
5: 113,062,878 (GRCm39) |
R656S |
probably benign |
Het |
Gsap |
T |
A |
5: 21,412,236 (GRCm39) |
|
probably benign |
Het |
H60c |
T |
C |
10: 3,210,240 (GRCm39) |
Q103R |
probably benign |
Het |
Hnrnpr |
T |
A |
4: 136,056,755 (GRCm39) |
S252T |
probably damaging |
Het |
Itgb4 |
A |
T |
11: 115,869,937 (GRCm39) |
T40S |
probably benign |
Het |
Krtap27-1 |
T |
C |
16: 88,468,302 (GRCm39) |
N81D |
probably benign |
Het |
Lilrb4a |
T |
A |
10: 51,367,683 (GRCm39) |
L75Q |
probably benign |
Het |
Lrp2 |
T |
A |
2: 69,290,821 (GRCm39) |
E3546D |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,313,738 (GRCm39) |
D2331V |
probably damaging |
Het |
Lzts2 |
T |
A |
19: 45,009,893 (GRCm39) |
V9E |
probably damaging |
Het |
Matr3 |
T |
A |
18: 35,717,709 (GRCm39) |
D302E |
probably benign |
Het |
Mcoln2 |
A |
G |
3: 145,897,979 (GRCm39) |
|
probably null |
Het |
Metap2 |
T |
C |
10: 93,704,811 (GRCm39) |
D272G |
probably damaging |
Het |
Mitf |
A |
G |
6: 97,987,428 (GRCm39) |
D337G |
probably damaging |
Het |
Mrtfb |
T |
C |
16: 13,219,433 (GRCm39) |
V693A |
possibly damaging |
Het |
Msh2 |
A |
G |
17: 87,985,771 (GRCm39) |
E116G |
probably benign |
Het |
Nlrp10 |
T |
A |
7: 108,523,555 (GRCm39) |
M642L |
probably benign |
Het |
Noxa1 |
G |
T |
2: 24,982,558 (GRCm39) |
Q86K |
probably benign |
Het |
Nrap |
T |
C |
19: 56,372,562 (GRCm39) |
T48A |
probably benign |
Het |
Nup160 |
T |
A |
2: 90,520,494 (GRCm39) |
H308Q |
probably damaging |
Het |
Osbpl11 |
T |
C |
16: 33,056,699 (GRCm39) |
L711P |
probably damaging |
Het |
Pcnp |
C |
T |
16: 55,844,703 (GRCm39) |
E66K |
possibly damaging |
Het |
Phf11 |
T |
A |
14: 59,482,227 (GRCm39) |
E175D |
probably damaging |
Het |
Pik3cg |
A |
G |
12: 32,254,983 (GRCm39) |
Y335H |
probably damaging |
Het |
Plekhg4 |
T |
C |
8: 106,108,431 (GRCm39) |
L1053S |
probably damaging |
Het |
Plekhh2 |
G |
T |
17: 84,918,203 (GRCm39) |
E1271* |
probably null |
Het |
Ppp2r2b |
T |
A |
18: 42,871,055 (GRCm39) |
Y82F |
probably damaging |
Het |
Prkd3 |
T |
C |
17: 79,278,796 (GRCm39) |
D430G |
probably damaging |
Het |
Prl7d1 |
C |
T |
13: 27,893,240 (GRCm39) |
D224N |
possibly damaging |
Het |
Ptpdc1 |
A |
T |
13: 48,740,173 (GRCm39) |
N419K |
possibly damaging |
Het |
Serinc5 |
T |
A |
13: 92,797,695 (GRCm39) |
|
probably null |
Het |
Sipa1 |
A |
G |
19: 5,701,692 (GRCm39) |
L981P |
probably damaging |
Het |
Slc16a7 |
A |
T |
10: 125,066,489 (GRCm39) |
C383* |
probably null |
Het |
Slc19a1 |
C |
G |
10: 76,878,369 (GRCm39) |
Y301* |
probably null |
Het |
Slc22a14 |
A |
T |
9: 119,052,827 (GRCm39) |
V14E |
possibly damaging |
Het |
Slpi |
C |
A |
2: 164,196,837 (GRCm39) |
C95F |
probably damaging |
Het |
Smurf2 |
G |
A |
11: 106,743,333 (GRCm39) |
H225Y |
possibly damaging |
Het |
Son |
T |
C |
16: 91,452,230 (GRCm39) |
S326P |
possibly damaging |
Het |
Sptb |
T |
A |
12: 76,658,657 (GRCm39) |
K1262M |
probably benign |
Het |
Sugp2 |
T |
A |
8: 70,696,714 (GRCm39) |
|
probably benign |
Het |
Tatdn2 |
T |
A |
6: 113,687,031 (GRCm39) |
H747Q |
probably damaging |
Het |
Tcn2 |
C |
A |
11: 3,877,516 (GRCm39) |
R44L |
probably benign |
Het |
Tenm3 |
G |
A |
8: 48,689,006 (GRCm39) |
R2194C |
probably damaging |
Het |
Tnks2 |
T |
A |
19: 36,822,931 (GRCm39) |
|
probably benign |
Het |
Top3a |
A |
T |
11: 60,650,188 (GRCm39) |
I120N |
probably damaging |
Het |
Umodl1 |
T |
A |
17: 31,201,232 (GRCm39) |
|
probably benign |
Het |
Umodl1 |
T |
C |
17: 31,205,478 (GRCm39) |
V662A |
probably benign |
Het |
Ush2a |
T |
C |
1: 188,595,048 (GRCm39) |
S3827P |
probably benign |
Het |
Vasn |
T |
A |
16: 4,466,473 (GRCm39) |
|
probably null |
Het |
Vmn2r69 |
A |
T |
7: 85,055,908 (GRCm39) |
C743* |
probably null |
Het |
Vmn2r79 |
C |
A |
7: 86,687,002 (GRCm39) |
H794Q |
probably benign |
Het |
|
Other mutations in Osbpl6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00391:Osbpl6
|
APN |
2 |
76,420,783 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01109:Osbpl6
|
APN |
2 |
76,379,871 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01288:Osbpl6
|
APN |
2 |
76,395,167 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01717:Osbpl6
|
APN |
2 |
76,418,938 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02146:Osbpl6
|
APN |
2 |
76,380,094 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02597:Osbpl6
|
APN |
2 |
76,386,318 (GRCm39) |
nonsense |
probably null |
|
IGL02652:Osbpl6
|
APN |
2 |
76,423,798 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02867:Osbpl6
|
APN |
2 |
76,426,214 (GRCm39) |
splice site |
probably benign |
|
IGL03143:Osbpl6
|
APN |
2 |
76,378,716 (GRCm39) |
missense |
probably damaging |
1.00 |
3-1:Osbpl6
|
UTSW |
2 |
76,416,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R0085:Osbpl6
|
UTSW |
2 |
76,423,758 (GRCm39) |
missense |
probably benign |
0.30 |
R0201:Osbpl6
|
UTSW |
2 |
76,376,386 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0573:Osbpl6
|
UTSW |
2 |
76,420,735 (GRCm39) |
missense |
probably damaging |
1.00 |
R0644:Osbpl6
|
UTSW |
2 |
76,425,184 (GRCm39) |
missense |
probably damaging |
1.00 |
R0855:Osbpl6
|
UTSW |
2 |
76,422,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R0855:Osbpl6
|
UTSW |
2 |
76,415,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R1017:Osbpl6
|
UTSW |
2 |
76,380,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R1505:Osbpl6
|
UTSW |
2 |
76,409,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R1588:Osbpl6
|
UTSW |
2 |
76,409,560 (GRCm39) |
missense |
probably benign |
|
R1786:Osbpl6
|
UTSW |
2 |
76,416,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R1863:Osbpl6
|
UTSW |
2 |
76,415,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R2131:Osbpl6
|
UTSW |
2 |
76,416,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R2132:Osbpl6
|
UTSW |
2 |
76,416,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R2133:Osbpl6
|
UTSW |
2 |
76,416,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R2233:Osbpl6
|
UTSW |
2 |
76,417,113 (GRCm39) |
missense |
probably damaging |
0.99 |
R2235:Osbpl6
|
UTSW |
2 |
76,417,113 (GRCm39) |
missense |
probably damaging |
0.99 |
R2256:Osbpl6
|
UTSW |
2 |
76,414,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R2294:Osbpl6
|
UTSW |
2 |
76,407,423 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3023:Osbpl6
|
UTSW |
2 |
76,417,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R4192:Osbpl6
|
UTSW |
2 |
76,415,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R4544:Osbpl6
|
UTSW |
2 |
76,414,836 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4546:Osbpl6
|
UTSW |
2 |
76,414,836 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4664:Osbpl6
|
UTSW |
2 |
76,398,552 (GRCm39) |
missense |
probably benign |
0.02 |
R4764:Osbpl6
|
UTSW |
2 |
76,376,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R4884:Osbpl6
|
UTSW |
2 |
76,379,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R5080:Osbpl6
|
UTSW |
2 |
76,354,429 (GRCm39) |
missense |
probably benign |
0.31 |
R5430:Osbpl6
|
UTSW |
2 |
76,416,482 (GRCm39) |
missense |
probably damaging |
1.00 |
R5614:Osbpl6
|
UTSW |
2 |
76,398,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R5807:Osbpl6
|
UTSW |
2 |
76,414,857 (GRCm39) |
missense |
probably damaging |
0.98 |
R5956:Osbpl6
|
UTSW |
2 |
76,379,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R6394:Osbpl6
|
UTSW |
2 |
76,386,298 (GRCm39) |
missense |
probably benign |
0.00 |
R6430:Osbpl6
|
UTSW |
2 |
76,409,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R6450:Osbpl6
|
UTSW |
2 |
76,395,174 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7116:Osbpl6
|
UTSW |
2 |
76,426,225 (GRCm39) |
missense |
probably benign |
0.06 |
R7385:Osbpl6
|
UTSW |
2 |
76,379,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R7422:Osbpl6
|
UTSW |
2 |
76,423,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R7561:Osbpl6
|
UTSW |
2 |
76,416,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R7829:Osbpl6
|
UTSW |
2 |
76,423,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R7921:Osbpl6
|
UTSW |
2 |
76,415,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R8183:Osbpl6
|
UTSW |
2 |
76,415,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R8219:Osbpl6
|
UTSW |
2 |
76,386,247 (GRCm39) |
missense |
probably damaging |
0.98 |
R8548:Osbpl6
|
UTSW |
2 |
76,409,566 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8682:Osbpl6
|
UTSW |
2 |
76,407,425 (GRCm39) |
missense |
probably benign |
0.00 |
R8935:Osbpl6
|
UTSW |
2 |
76,379,800 (GRCm39) |
missense |
possibly damaging |
0.60 |
R9157:Osbpl6
|
UTSW |
2 |
76,382,468 (GRCm39) |
missense |
probably benign |
0.00 |
R9303:Osbpl6
|
UTSW |
2 |
76,378,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R9305:Osbpl6
|
UTSW |
2 |
76,378,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R9526:Osbpl6
|
UTSW |
2 |
76,415,603 (GRCm39) |
missense |
probably damaging |
0.98 |
R9536:Osbpl6
|
UTSW |
2 |
76,416,554 (GRCm39) |
missense |
probably benign |
0.00 |
R9564:Osbpl6
|
UTSW |
2 |
76,426,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R9571:Osbpl6
|
UTSW |
2 |
76,425,191 (GRCm39) |
missense |
probably benign |
0.03 |
R9585:Osbpl6
|
UTSW |
2 |
76,354,438 (GRCm39) |
missense |
probably benign |
|
R9771:Osbpl6
|
UTSW |
2 |
76,423,771 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9790:Osbpl6
|
UTSW |
2 |
76,385,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R9791:Osbpl6
|
UTSW |
2 |
76,385,361 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Osbpl6
|
UTSW |
2 |
76,370,523 (GRCm39) |
missense |
probably benign |
0.01 |
Z31818:Osbpl6
|
UTSW |
2 |
76,385,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCCCATGAGATGAAATCCGTGAG -3'
(R):5'- CGTGAGCCTGTGAATAGTAACTTCCC -3'
Sequencing Primer
(F):5'- ATCTCATTGCCAGCAGCG -3'
(R):5'- GTGAATAGTAACTTCCCTTTTGAGTG -3'
|
Posted On |
2014-03-14 |