Incidental Mutation 'R8844:Osbpl8'
| ID |
674611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl8
|
| Ensembl Gene |
ENSMUSG00000020189 |
| Gene Name |
oxysterol binding protein-like 8 |
| Synonyms |
ORP-8, D330025H14Rik |
| MMRRC Submission |
068733-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R8844 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
111000663-111133110 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111112336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 484
(Y484N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095310]
[ENSMUST00000105275]
|
| AlphaFold |
B9EJ86 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095310
AA Change: Y442N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092948
Gene: ENSMUSG00000020189
AA Change: Y442N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
59 |
N/A |
INTRINSIC |
|
coiled coil region
|
71 |
102 |
N/A |
INTRINSIC |
|
PH
|
107 |
225 |
3.65e-16 |
SMART |
|
Pfam:Oxysterol_BP
|
364 |
715 |
6.4e-91 |
PFAM |
|
coiled coil region
|
789 |
811 |
N/A |
INTRINSIC |
|
transmembrane domain
|
829 |
846 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105275
AA Change: Y484N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100911
Gene: ENSMUSG00000020189
AA Change: Y484N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
85 |
101 |
N/A |
INTRINSIC |
|
coiled coil region
|
113 |
144 |
N/A |
INTRINSIC |
|
PH
|
149 |
267 |
3.65e-16 |
SMART |
|
Pfam:Oxysterol_BP
|
406 |
752 |
4.6e-91 |
PFAM |
|
coiled coil region
|
831 |
853 |
N/A |
INTRINSIC |
|
transmembrane domain
|
871 |
888 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the oxysterol-binding protein (Osbp) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal Osbp-like sterol-binding domain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit elevated of HDL and gender-specific alterations in lipid metabolism. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530002B09Rik |
A |
T |
4: 122,595,011 (GRCm39) |
H89L |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 8,984,254 (GRCm39) |
V1846A |
probably damaging |
Het |
| Arhgap9 |
A |
T |
10: 127,161,015 (GRCm39) |
T181S |
probably benign |
Het |
| Bmp10 |
A |
G |
6: 87,410,681 (GRCm39) |
Y158C |
probably damaging |
Het |
| Clec14a |
A |
G |
12: 58,315,599 (GRCm39) |
C8R |
possibly damaging |
Het |
| Cntln |
A |
G |
4: 84,892,234 (GRCm39) |
H373R |
probably damaging |
Het |
| Cpn2 |
A |
G |
16: 30,078,115 (GRCm39) |
S529P |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,604,590 (GRCm39) |
N1051S |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 48,536,815 (GRCm39) |
T129M |
probably damaging |
Het |
| F12 |
T |
C |
13: 55,568,198 (GRCm39) |
H432R |
probably damaging |
Het |
| Foxm1 |
T |
C |
6: 128,350,439 (GRCm39) |
F595S |
probably damaging |
Het |
| Foxred2 |
A |
T |
15: 77,832,677 (GRCm39) |
I410N |
probably benign |
Het |
| Fstl5 |
T |
A |
3: 76,337,154 (GRCm39) |
F238I |
possibly damaging |
Het |
| Galnt3 |
A |
G |
2: 65,915,636 (GRCm39) |
V575A |
probably benign |
Het |
| Gpr149 |
T |
A |
3: 62,502,572 (GRCm39) |
Y428F |
probably benign |
Het |
| Gtf2ird1 |
A |
T |
5: 134,389,879 (GRCm39) |
Y970* |
probably null |
Het |
| Hint2 |
G |
C |
4: 43,654,343 (GRCm39) |
Q157E |
probably damaging |
Het |
| Ighe |
T |
C |
12: 113,235,006 (GRCm39) |
T385A |
|
Het |
| Kcnc4 |
G |
A |
3: 107,355,396 (GRCm39) |
R351C |
probably damaging |
Het |
| Kif7 |
A |
G |
7: 79,357,280 (GRCm39) |
L642S |
possibly damaging |
Het |
| Lilra5 |
T |
A |
7: 4,241,663 (GRCm39) |
V154D |
probably damaging |
Het |
| Morc2b |
A |
G |
17: 33,354,742 (GRCm39) |
L1010P |
probably damaging |
Het |
| Mphosph10 |
C |
A |
7: 64,027,087 (GRCm39) |
K575N |
probably damaging |
Het |
| Mup7 |
C |
A |
4: 60,067,537 (GRCm39) |
E193* |
probably null |
Het |
| Nbea |
T |
C |
3: 55,998,415 (GRCm39) |
T131A |
probably damaging |
Het |
| Nostrin |
T |
C |
2: 69,006,060 (GRCm39) |
I248T |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 89,153,920 (GRCm39) |
I296F |
possibly damaging |
Het |
| Odam |
A |
G |
5: 88,037,322 (GRCm39) |
E172G |
probably damaging |
Het |
| Optn |
A |
G |
2: 5,031,923 (GRCm39) |
|
probably null |
Het |
| Or5ac16 |
G |
C |
16: 59,021,929 (GRCm39) |
P287A |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,480,206 (GRCm39) |
N1308D |
probably damaging |
Het |
| Pcdhb17 |
A |
T |
18: 37,618,801 (GRCm39) |
E197V |
probably benign |
Het |
| Pcolce2 |
G |
A |
9: 95,563,625 (GRCm39) |
D204N |
possibly damaging |
Het |
| Plxna4 |
T |
G |
6: 32,174,026 (GRCm39) |
T1190P |
probably benign |
Het |
| Pramel22 |
A |
T |
4: 143,380,976 (GRCm39) |
F349Y |
probably damaging |
Het |
| Pzp |
T |
C |
6: 128,500,950 (GRCm39) |
Y136C |
probably damaging |
Het |
| Scn10a |
A |
T |
9: 119,446,791 (GRCm39) |
N1411K |
probably damaging |
Het |
| Scube1 |
A |
G |
15: 83,561,164 (GRCm39) |
C143R |
probably damaging |
Het |
| Stau1 |
T |
C |
2: 166,793,266 (GRCm39) |
T290A |
probably benign |
Het |
| Sycp1 |
T |
A |
3: 102,772,421 (GRCm39) |
K629I |
probably damaging |
Het |
| Taf1d |
A |
G |
9: 15,221,324 (GRCm39) |
E210G |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,153,117 (GRCm39) |
E204G |
possibly damaging |
Het |
| Tmem229a |
T |
C |
6: 24,955,187 (GRCm39) |
D189G |
probably benign |
Het |
| Tmem269 |
G |
A |
4: 119,062,876 (GRCm39) |
P254S |
probably damaging |
Het |
| Top1 |
T |
A |
2: 160,563,469 (GRCm39) |
F767I |
probably damaging |
Het |
| Ube2q2 |
C |
A |
9: 55,102,757 (GRCm39) |
A331D |
|
Het |
| Usp1 |
A |
G |
4: 98,823,017 (GRCm39) |
Y777C |
probably damaging |
Het |
| Usp29 |
A |
G |
7: 6,964,891 (GRCm39) |
N245D |
probably benign |
Het |
| Vmn1r212 |
T |
A |
13: 23,067,526 (GRCm39) |
Q269L |
probably benign |
Het |
| Wfdc11 |
T |
A |
2: 164,507,373 (GRCm39) |
Y28F |
probably benign |
Het |
| Wwp2 |
A |
T |
8: 108,210,048 (GRCm39) |
D142V |
probably damaging |
Het |
|
| Other mutations in Osbpl8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00785:Osbpl8
|
APN |
10 |
111,108,905 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL00826:Osbpl8
|
APN |
10 |
111,108,181 (GRCm39) |
splice site |
probably benign |
|
|
IGL00839:Osbpl8
|
APN |
10 |
111,127,371 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01148:Osbpl8
|
APN |
10 |
111,112,424 (GRCm39) |
splice site |
probably benign |
|
|
IGL01338:Osbpl8
|
APN |
10 |
111,103,608 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01927:Osbpl8
|
APN |
10 |
111,106,477 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02378:Osbpl8
|
APN |
10 |
111,118,006 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02863:Osbpl8
|
APN |
10 |
111,120,286 (GRCm39) |
splice site |
probably benign |
|
|
IGL02933:Osbpl8
|
APN |
10 |
111,117,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03075:Osbpl8
|
APN |
10 |
111,127,417 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0388:Osbpl8
|
UTSW |
10 |
111,108,143 (GRCm39) |
missense |
probably benign |
|
|
R0725:Osbpl8
|
UTSW |
10 |
111,122,101 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1353:Osbpl8
|
UTSW |
10 |
111,112,340 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1434:Osbpl8
|
UTSW |
10 |
111,127,442 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1803:Osbpl8
|
UTSW |
10 |
111,110,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1939:Osbpl8
|
UTSW |
10 |
111,125,672 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2847:Osbpl8
|
UTSW |
10 |
111,105,297 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2848:Osbpl8
|
UTSW |
10 |
111,105,297 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2849:Osbpl8
|
UTSW |
10 |
111,105,297 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2879:Osbpl8
|
UTSW |
10 |
111,105,297 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2935:Osbpl8
|
UTSW |
10 |
111,105,297 (GRCm39) |
missense |
probably benign |
0.27 |
|
R3693:Osbpl8
|
UTSW |
10 |
111,105,297 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4088:Osbpl8
|
UTSW |
10 |
111,125,651 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4374:Osbpl8
|
UTSW |
10 |
111,105,280 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4376:Osbpl8
|
UTSW |
10 |
111,105,280 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4377:Osbpl8
|
UTSW |
10 |
111,105,280 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4621:Osbpl8
|
UTSW |
10 |
111,105,279 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4622:Osbpl8
|
UTSW |
10 |
111,127,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4851:Osbpl8
|
UTSW |
10 |
111,040,661 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
R5134:Osbpl8
|
UTSW |
10 |
111,124,554 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5179:Osbpl8
|
UTSW |
10 |
111,108,025 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5309:Osbpl8
|
UTSW |
10 |
111,106,418 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5590:Osbpl8
|
UTSW |
10 |
111,108,029 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5783:Osbpl8
|
UTSW |
10 |
111,103,644 (GRCm39) |
nonsense |
probably null |
|
|
R6293:Osbpl8
|
UTSW |
10 |
111,108,099 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6362:Osbpl8
|
UTSW |
10 |
111,108,929 (GRCm39) |
nonsense |
probably null |
|
|
R6527:Osbpl8
|
UTSW |
10 |
111,129,066 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6751:Osbpl8
|
UTSW |
10 |
111,110,874 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6851:Osbpl8
|
UTSW |
10 |
111,106,479 (GRCm39) |
nonsense |
probably null |
|
|
R6955:Osbpl8
|
UTSW |
10 |
111,105,305 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7224:Osbpl8
|
UTSW |
10 |
111,110,872 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7235:Osbpl8
|
UTSW |
10 |
111,105,288 (GRCm39) |
missense |
probably benign |
|
|
R7685:Osbpl8
|
UTSW |
10 |
111,112,370 (GRCm39) |
nonsense |
probably null |
|
|
R7988:Osbpl8
|
UTSW |
10 |
111,107,941 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8055:Osbpl8
|
UTSW |
10 |
111,120,255 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8458:Osbpl8
|
UTSW |
10 |
111,113,177 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8777:Osbpl8
|
UTSW |
10 |
111,128,974 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8777-TAIL:Osbpl8
|
UTSW |
10 |
111,128,974 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8948:Osbpl8
|
UTSW |
10 |
111,103,530 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8954:Osbpl8
|
UTSW |
10 |
111,108,053 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8997:Osbpl8
|
UTSW |
10 |
111,091,575 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9236:Osbpl8
|
UTSW |
10 |
111,106,496 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9249:Osbpl8
|
UTSW |
10 |
111,122,012 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9380:Osbpl8
|
UTSW |
10 |
111,108,980 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9394:Osbpl8
|
UTSW |
10 |
111,127,375 (GRCm39) |
nonsense |
probably null |
|
|
R9595:Osbpl8
|
UTSW |
10 |
111,108,909 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF007:Osbpl8
|
UTSW |
10 |
111,112,328 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACCAGCAGTTACCATGAAATTGC -3'
(R):5'- TCCTGCTCTAGAATGTTCAATGC -3'
Sequencing Primer
(F):5'- ACCATGAAATTGCAAAGTTTGTC -3'
(R):5'- CTGCTCTAGAATGTTCAATGCTTATC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation