Incidental Mutation 'R2849:Osbpl8'
ID |
251993 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Osbpl8
|
Ensembl Gene |
ENSMUSG00000020189 |
Gene Name |
oxysterol binding protein-like 8 |
Synonyms |
ORP-8, D330025H14Rik |
MMRRC Submission |
040442-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.155)
|
Stock # |
R2849 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
111000663-111133110 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 111105297 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 251
(S251T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100911
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095310]
[ENSMUST00000105275]
|
AlphaFold |
B9EJ86 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095310
AA Change: S209T
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000092948 Gene: ENSMUSG00000020189 AA Change: S209T
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 benign
Transcript: ENSMUST00000105275
AA Change: S251T
PolyPhen 2
Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000100911 Gene: ENSMUSG00000020189 AA Change: S251T
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220139
|
Meta Mutation Damage Score |
0.1661 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
G |
C |
17: 24,508,481 (GRCm39) |
T1018R |
probably damaging |
Het |
Abca8a |
T |
C |
11: 109,932,931 (GRCm39) |
D1231G |
probably damaging |
Het |
Adcy7 |
A |
G |
8: 89,054,021 (GRCm39) |
I1017V |
probably benign |
Het |
Agpat2 |
A |
G |
2: 26,487,251 (GRCm39) |
I109T |
probably damaging |
Het |
Aldh9a1 |
G |
A |
1: 167,180,197 (GRCm39) |
R97H |
probably damaging |
Het |
Als2 |
G |
A |
1: 59,245,697 (GRCm39) |
T593M |
probably damaging |
Het |
Ap3d1 |
G |
C |
10: 80,577,742 (GRCm39) |
H28Q |
possibly damaging |
Het |
Atxn1 |
A |
T |
13: 45,720,175 (GRCm39) |
D573E |
probably damaging |
Het |
Begain |
T |
A |
12: 108,999,044 (GRCm39) |
M576L |
probably benign |
Het |
Bod1l |
T |
C |
5: 41,995,419 (GRCm39) |
N109S |
probably damaging |
Het |
Boll |
A |
G |
1: 55,385,532 (GRCm39) |
M131T |
possibly damaging |
Het |
Celf2 |
T |
C |
2: 6,608,936 (GRCm39) |
R282G |
probably damaging |
Het |
Cers2 |
T |
C |
3: 95,229,770 (GRCm39) |
F330L |
probably benign |
Het |
Chst13 |
T |
C |
6: 90,286,140 (GRCm39) |
D274G |
probably benign |
Het |
Cimap1a |
A |
G |
7: 140,429,182 (GRCm39) |
T156A |
probably benign |
Het |
Cstdc5 |
T |
A |
16: 36,187,814 (GRCm39) |
Q17L |
probably damaging |
Het |
Dclk2 |
A |
G |
3: 86,700,530 (GRCm39) |
V649A |
probably damaging |
Het |
Deaf1 |
T |
C |
7: 140,894,367 (GRCm39) |
*54W |
probably null |
Het |
Fbf1 |
C |
T |
11: 116,048,514 (GRCm39) |
|
probably null |
Het |
Fbxo32 |
C |
T |
15: 58,071,368 (GRCm39) |
S71N |
probably benign |
Het |
Fbxo42 |
T |
A |
4: 140,927,821 (GRCm39) |
N700K |
probably damaging |
Het |
Fis1 |
T |
C |
5: 136,991,971 (GRCm39) |
I55T |
possibly damaging |
Het |
Fyco1 |
A |
T |
9: 123,663,891 (GRCm39) |
L121* |
probably null |
Het |
Gm2381 |
G |
A |
7: 42,469,831 (GRCm39) |
P98S |
probably damaging |
Het |
Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
Gtf2ird1 |
G |
A |
5: 134,387,861 (GRCm39) |
T946I |
probably damaging |
Het |
Hmcn1 |
G |
T |
1: 150,439,350 (GRCm39) |
Y5494* |
probably null |
Het |
Josd2 |
A |
G |
7: 44,118,397 (GRCm39) |
|
probably null |
Het |
Lfng |
T |
A |
5: 140,597,622 (GRCm39) |
D149E |
probably damaging |
Het |
Lrp1 |
C |
T |
10: 127,378,165 (GRCm39) |
A4052T |
probably damaging |
Het |
Lrrtm3 |
T |
C |
10: 63,924,810 (GRCm39) |
N119S |
probably damaging |
Het |
Lypd6 |
C |
T |
2: 50,055,664 (GRCm39) |
P38L |
probably damaging |
Het |
Msl3l2 |
T |
C |
10: 55,991,538 (GRCm39) |
C88R |
probably benign |
Het |
Nsd1 |
A |
G |
13: 55,361,505 (GRCm39) |
T158A |
probably damaging |
Het |
Nudt22 |
A |
T |
19: 6,970,852 (GRCm39) |
S239R |
probably benign |
Het |
Or4g7 |
T |
C |
2: 111,309,699 (GRCm39) |
M190T |
probably benign |
Het |
Or52r1c |
A |
T |
7: 102,735,319 (GRCm39) |
D193V |
probably damaging |
Het |
Otop3 |
T |
C |
11: 115,235,384 (GRCm39) |
F339L |
probably damaging |
Het |
Pcdhga10 |
T |
A |
18: 37,881,253 (GRCm39) |
V338E |
possibly damaging |
Het |
Pcnx2 |
A |
G |
8: 126,487,666 (GRCm39) |
F1779S |
probably damaging |
Het |
Plxna4 |
T |
C |
6: 32,162,467 (GRCm39) |
K1349E |
probably damaging |
Het |
Poteg |
A |
T |
8: 27,971,704 (GRCm39) |
N406I |
probably benign |
Het |
Ppp4r4 |
T |
C |
12: 103,573,192 (GRCm39) |
V697A |
probably benign |
Het |
Ptpra |
C |
A |
2: 130,386,919 (GRCm39) |
H603Q |
probably benign |
Het |
Rnf10 |
T |
C |
5: 115,387,171 (GRCm39) |
D439G |
probably benign |
Het |
Rnf43 |
T |
A |
11: 87,623,093 (GRCm39) |
N731K |
probably benign |
Het |
Slc2a4 |
T |
A |
11: 69,836,997 (GRCm39) |
N116Y |
probably damaging |
Het |
Slc6a15 |
C |
A |
10: 103,240,552 (GRCm39) |
H392N |
probably benign |
Het |
Slco6d1 |
C |
T |
1: 98,394,441 (GRCm39) |
T375I |
probably benign |
Het |
Smpd4 |
A |
G |
16: 17,460,076 (GRCm39) |
D436G |
probably damaging |
Het |
Spata22 |
G |
A |
11: 73,244,571 (GRCm39) |
W311* |
probably null |
Het |
Syt3 |
G |
A |
7: 44,042,866 (GRCm39) |
V383I |
probably benign |
Het |
Tle6 |
T |
A |
10: 81,430,235 (GRCm39) |
I306F |
probably damaging |
Het |
Tox3 |
G |
A |
8: 90,975,018 (GRCm39) |
Q538* |
probably null |
Het |
Trim24 |
T |
A |
6: 37,933,388 (GRCm39) |
S656T |
probably damaging |
Het |
Trnau1ap |
C |
A |
4: 132,049,045 (GRCm39) |
V119F |
possibly damaging |
Het |
Vmn1r181 |
G |
T |
7: 23,683,943 (GRCm39) |
S136I |
possibly damaging |
Het |
Vmn1r82 |
T |
C |
7: 12,039,333 (GRCm39) |
V202A |
probably damaging |
Het |
Zfp607b |
G |
A |
7: 27,401,819 (GRCm39) |
V92I |
probably benign |
Het |
Zfp964 |
G |
C |
8: 70,116,504 (GRCm39) |
C368S |
unknown |
Het |
Zw10 |
A |
G |
9: 48,968,941 (GRCm39) |
|
probably null |
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 |
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 |
R8844:Osbpl8
|
UTSW |
10 |
111,112,336 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TGTGCCTGATGAATCCATATCTG -3'
(R):5'- AAGCATTCATGTGTCAGTGGAG -3'
Sequencing Primer
(F):5'- GCCTGATGAATCCATATCTGATAAG -3'
(R):5'- TGCACTGTTAACACGGCC -3'
|
Posted On |
2014-12-04 |