Incidental Mutation 'R9157:Osbpl6'
ID |
695416 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Osbpl6
|
Ensembl Gene |
ENSMUSG00000042359 |
Gene Name |
oxysterol binding protein-like 6 |
Synonyms |
1110062M20Rik, ORP-6 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.495)
|
Stock # |
R9157 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
76236852-76430991 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 76382468 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 222
(P222S)
|
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: P222S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000077123 Gene: ENSMUSG00000042359 AA Change: P222S
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: P222S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000107560 Gene: ENSMUSG00000042359 AA Change: P222S
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: P222S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000107561 Gene: ENSMUSG00000042359 AA Change: P222S
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: P109S
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000139363 Gene: ENSMUSG00000042359 AA Change: P109S
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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. 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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
T |
C |
3: 124,207,220 (GRCm39) |
T324A |
probably benign |
Het |
Adam9 |
A |
T |
8: 25,493,331 (GRCm39) |
F92L |
probably damaging |
Het |
Adgrb1 |
A |
G |
15: 74,411,624 (GRCm39) |
T376A |
probably damaging |
Het |
Aff3 |
A |
C |
1: 38,249,559 (GRCm39) |
I516S |
probably benign |
Het |
Bdp1 |
C |
T |
13: 100,186,436 (GRCm39) |
S1672N |
probably benign |
Het |
Btc |
A |
T |
5: 91,513,980 (GRCm39) |
I94N |
probably damaging |
Het |
Ccdc168 |
A |
G |
1: 44,096,520 (GRCm39) |
V1526A |
probably benign |
Het |
Ccdc47 |
A |
T |
11: 106,093,208 (GRCm39) |
|
probably null |
Het |
Ceacam5 |
A |
T |
7: 17,493,419 (GRCm39) |
Y814F |
possibly damaging |
Het |
Celsr3 |
A |
T |
9: 108,707,185 (GRCm39) |
R1223W |
probably damaging |
Het |
Cenpc1 |
A |
G |
5: 86,166,316 (GRCm39) |
M779T |
probably benign |
Het |
Cfap20dc |
T |
A |
14: 8,518,635 (GRCm38) |
T274S |
probably benign |
Het |
Depdc5 |
T |
C |
5: 33,102,452 (GRCm39) |
I986T |
probably damaging |
Het |
Dhx40 |
A |
T |
11: 86,662,050 (GRCm39) |
I669N |
probably damaging |
Het |
Dnah1 |
T |
A |
14: 30,987,970 (GRCm39) |
I3483F |
probably damaging |
Het |
Dzip3 |
C |
T |
16: 48,748,124 (GRCm39) |
G918D |
probably benign |
Het |
Fam185a |
T |
G |
5: 21,660,837 (GRCm39) |
V284G |
probably damaging |
Het |
Fhod3 |
T |
C |
18: 25,218,651 (GRCm39) |
S805P |
probably damaging |
Het |
Filip1l |
A |
G |
16: 57,391,980 (GRCm39) |
N856S |
probably benign |
Het |
Gm12887 |
C |
T |
4: 121,473,701 (GRCm39) |
V50M |
probably benign |
Het |
Gm45785 |
T |
C |
7: 140,398,616 (GRCm39) |
I94V |
unknown |
Het |
Gm9195 |
A |
G |
14: 72,692,038 (GRCm39) |
I1616T |
unknown |
Het |
Grm4 |
T |
A |
17: 27,653,956 (GRCm39) |
I665F |
probably benign |
Het |
Hcls1 |
C |
T |
16: 36,777,000 (GRCm39) |
A230V |
probably benign |
Het |
Hic1 |
A |
G |
11: 75,057,053 (GRCm39) |
L612P |
possibly damaging |
Het |
Hmcn1 |
A |
C |
1: 150,522,343 (GRCm39) |
V3519G |
probably benign |
Het |
Hmgcs1 |
A |
G |
13: 120,165,963 (GRCm39) |
Y360C |
probably benign |
Het |
Hspa12a |
A |
T |
19: 58,789,292 (GRCm39) |
M448K |
possibly damaging |
Het |
Htt |
T |
G |
5: 34,987,171 (GRCm39) |
I1130S |
probably null |
Het |
Irx3 |
A |
G |
8: 92,527,694 (GRCm39) |
Y59H |
probably damaging |
Het |
Klc4 |
A |
G |
17: 46,950,361 (GRCm39) |
L280P |
probably damaging |
Het |
Lrp1 |
G |
T |
10: 127,410,209 (GRCm39) |
N1512K |
probably damaging |
Het |
Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
Marco |
T |
C |
1: 120,421,814 (GRCm39) |
E130G |
probably damaging |
Het |
Mdga1 |
G |
A |
17: 30,057,491 (GRCm39) |
T775M |
probably damaging |
Het |
Ms4a18 |
A |
T |
19: 10,988,804 (GRCm39) |
L184Q |
probably damaging |
Het |
Msi2 |
A |
C |
11: 88,608,889 (GRCm39) |
S10A |
probably benign |
Het |
Muc5ac |
T |
C |
7: 141,363,529 (GRCm39) |
I2280T |
unknown |
Het |
Ngfr |
AAGCAGCAGCAGCAGCAGCAGCAG |
AAGCAGCAGCAGCAGCAGCAG |
11: 95,478,316 (GRCm39) |
|
probably benign |
Het |
Nradd |
A |
G |
9: 110,451,188 (GRCm39) |
L60P |
probably damaging |
Het |
Nup188 |
A |
G |
2: 30,188,456 (GRCm39) |
Y39C |
probably benign |
Het |
Odf2 |
G |
T |
2: 29,816,815 (GRCm39) |
G754C |
probably benign |
Het |
Or10a2 |
A |
T |
7: 106,673,214 (GRCm39) |
M60L |
probably damaging |
Het |
Or12d15 |
A |
G |
17: 37,694,183 (GRCm39) |
M242V |
probably benign |
Het |
Or13d1 |
A |
G |
4: 52,971,419 (GRCm39) |
Y266C |
possibly damaging |
Het |
Or4b1 |
A |
G |
2: 89,979,522 (GRCm39) |
I276T |
possibly damaging |
Het |
Pcdhga3 |
T |
C |
18: 37,809,229 (GRCm39) |
Y561H |
probably benign |
Het |
Phykpl |
G |
A |
11: 51,490,375 (GRCm39) |
V419I |
probably benign |
Het |
Pskh1 |
A |
G |
8: 106,640,142 (GRCm39) |
Y274C |
possibly damaging |
Het |
Rap1gap |
G |
T |
4: 137,444,742 (GRCm39) |
V219F |
probably damaging |
Het |
Rapgef4 |
C |
A |
2: 72,005,212 (GRCm39) |
H220N |
probably benign |
Het |
Rcor3 |
G |
T |
1: 191,810,181 (GRCm39) |
H165Q |
possibly damaging |
Het |
Reg3d |
T |
C |
6: 78,354,422 (GRCm39) |
T60A |
possibly damaging |
Het |
Rgs9 |
T |
A |
11: 109,116,549 (GRCm39) |
D644V |
probably damaging |
Het |
Rhob |
T |
A |
12: 8,549,319 (GRCm39) |
H105L |
probably benign |
Het |
Rph3a |
T |
C |
5: 121,101,892 (GRCm39) |
K115E |
probably damaging |
Het |
Rsf1 |
GG |
GGGGACGGCCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Scn4b |
T |
A |
9: 45,058,013 (GRCm39) |
V35E |
probably damaging |
Het |
Serpina3i |
T |
C |
12: 104,231,672 (GRCm39) |
I103T |
probably damaging |
Het |
Sidt2 |
T |
C |
9: 45,852,658 (GRCm39) |
T776A |
possibly damaging |
Het |
Slc15a1 |
T |
C |
14: 121,702,389 (GRCm39) |
I586V |
probably benign |
Het |
Slc15a5 |
A |
T |
6: 137,961,456 (GRCm39) |
V213E |
|
Het |
Stard13 |
C |
A |
5: 151,157,152 (GRCm39) |
A10S |
probably benign |
Het |
Taf6 |
C |
A |
5: 138,179,221 (GRCm39) |
V406F |
possibly damaging |
Het |
Tap2 |
G |
T |
17: 34,431,004 (GRCm39) |
R368L |
possibly damaging |
Het |
Tmem236 |
T |
C |
2: 14,223,889 (GRCm39) |
V226A |
probably benign |
Het |
Tmem87a |
T |
A |
2: 120,210,093 (GRCm39) |
I287F |
possibly damaging |
Het |
Ttll13 |
A |
T |
7: 79,904,428 (GRCm39) |
K351I |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,581,245 (GRCm39) |
Y23216F |
probably damaging |
Het |
Vmn2r27 |
T |
C |
6: 124,201,244 (GRCm39) |
T238A |
probably benign |
Het |
Vmn2r54 |
T |
C |
7: 12,366,055 (GRCm39) |
Y293C |
possibly damaging |
Het |
Vsig10l |
T |
C |
7: 43,112,948 (GRCm39) |
S69P |
|
Het |
Wdr83 |
G |
A |
8: 85,806,432 (GRCm39) |
T122I |
probably damaging |
Het |
Zfp219 |
A |
G |
14: 52,246,200 (GRCm39) |
V309A |
probably damaging |
Het |
Zfp354a |
C |
T |
11: 50,960,788 (GRCm39) |
S332F |
probably damaging |
Het |
Zfp354b |
T |
C |
11: 50,813,887 (GRCm39) |
N346S |
possibly damaging |
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 |
R1459:Osbpl6
|
UTSW |
2 |
76,385,409 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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'- TAATTTCAGGACTGGGTTCCTG -3'
(R):5'- TAAGAAGAAAGGCCCGGTCC -3'
Sequencing Primer
(F):5'- TTCCTGGGCTCCTGGGTAC -3'
(R):5'- GAAGCTGTAGTGTTTTCCTTGCACC -3'
|
Posted On |
2022-01-20 |