Incidental Mutation 'R2847:Osbpl8'
ID |
251726 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Osbpl8
|
Ensembl Gene |
ENSMUSG00000020189 |
Gene Name |
oxysterol binding protein-like 8 |
Synonyms |
ORP-8, D330025H14Rik |
MMRRC Submission |
040440-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.155)
|
Stock # |
R2847 (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: 97.3%
- 20x: 95.0%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930510E17Rik |
T |
C |
9: 53,176,089 (GRCm39) |
|
noncoding transcript |
Het |
Abca13 |
T |
C |
11: 9,244,584 (GRCm39) |
V2149A |
possibly damaging |
Het |
Abca8a |
T |
C |
11: 109,932,931 (GRCm39) |
D1231G |
probably damaging |
Het |
Adgrf5 |
C |
A |
17: 43,733,531 (GRCm39) |
N118K |
possibly damaging |
Het |
Atxn1 |
A |
T |
13: 45,720,175 (GRCm39) |
D573E |
probably damaging |
Het |
Bub3 |
C |
T |
7: 131,172,613 (GRCm39) |
T326M |
possibly damaging |
Het |
Cd151 |
T |
C |
7: 141,049,463 (GRCm39) |
Y57H |
probably damaging |
Het |
Cib4 |
T |
C |
5: 30,645,932 (GRCm39) |
N112S |
probably damaging |
Het |
Cntnap5c |
A |
T |
17: 58,183,387 (GRCm39) |
D31V |
probably damaging |
Het |
Cobl |
A |
G |
11: 12,328,342 (GRCm39) |
L81P |
probably damaging |
Het |
Cpsf1 |
A |
T |
15: 76,487,051 (GRCm39) |
L209Q |
probably damaging |
Het |
Crocc |
G |
A |
4: 140,746,067 (GRCm39) |
A1684V |
probably damaging |
Het |
Cyp4f37 |
T |
A |
17: 32,848,099 (GRCm39) |
C206S |
probably damaging |
Het |
Defb39 |
C |
T |
8: 19,102,909 (GRCm39) |
R62H |
possibly damaging |
Het |
Dennd2b |
T |
C |
7: 109,124,544 (GRCm39) |
Q1099R |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,106,314 (GRCm39) |
K1756E |
probably benign |
Het |
Efcab12 |
A |
G |
6: 115,788,072 (GRCm39) |
I630T |
probably damaging |
Het |
Erc2 |
T |
C |
14: 27,762,445 (GRCm39) |
V736A |
probably damaging |
Het |
Fbf1 |
C |
T |
11: 116,048,514 (GRCm39) |
|
probably null |
Het |
Fndc9 |
C |
T |
11: 46,128,868 (GRCm39) |
A129V |
probably damaging |
Het |
Foxk2 |
CGGGGGG |
CGGGGGGGGG |
11: 121,151,317 (GRCm39) |
|
probably benign |
Het |
Gba2 |
T |
C |
4: 43,568,000 (GRCm39) |
|
probably null |
Het |
Gna12 |
T |
A |
5: 140,771,348 (GRCm39) |
D61V |
probably damaging |
Het |
Gpr37 |
C |
T |
6: 25,666,945 (GRCm39) |
|
probably benign |
Het |
Grin2a |
A |
G |
16: 9,579,829 (GRCm39) |
F145L |
possibly damaging |
Het |
Grin2b |
C |
A |
6: 135,717,951 (GRCm39) |
V714L |
probably damaging |
Het |
Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
Hmcn1 |
G |
T |
1: 150,439,350 (GRCm39) |
Y5494* |
probably null |
Het |
Htr4 |
T |
C |
18: 62,561,197 (GRCm39) |
S153P |
probably damaging |
Het |
Igkv9-120 |
T |
A |
6: 68,027,128 (GRCm39) |
|
probably benign |
Het |
Itgb6 |
T |
C |
2: 60,430,879 (GRCm39) |
T772A |
probably damaging |
Het |
Mgam |
C |
A |
6: 40,629,649 (GRCm39) |
A86E |
possibly damaging |
Het |
Mme |
T |
A |
3: 63,252,620 (GRCm39) |
N421K |
possibly damaging |
Het |
Mmp1b |
C |
T |
9: 7,370,763 (GRCm39) |
V331I |
probably benign |
Het |
Naa16 |
A |
G |
14: 79,573,323 (GRCm39) |
C816R |
probably damaging |
Het |
Nav1 |
G |
C |
1: 135,378,382 (GRCm39) |
|
probably null |
Het |
Nln |
A |
G |
13: 104,161,533 (GRCm39) |
M679T |
probably damaging |
Het |
Or1n1b |
A |
G |
2: 36,780,536 (GRCm39) |
L108P |
probably damaging |
Het |
Or8b53 |
C |
T |
9: 38,667,332 (GRCm39) |
T116I |
possibly damaging |
Het |
Otop3 |
T |
C |
11: 115,235,384 (GRCm39) |
F339L |
probably damaging |
Het |
Pax7 |
T |
C |
4: 139,506,954 (GRCm39) |
D361G |
possibly damaging |
Het |
Peg10 |
C |
T |
6: 4,756,912 (GRCm39) |
|
probably benign |
Het |
Plekhh2 |
G |
T |
17: 84,905,394 (GRCm39) |
R1096L |
probably damaging |
Het |
Poteg |
A |
T |
8: 27,971,704 (GRCm39) |
N406I |
probably benign |
Het |
Rnf43 |
T |
A |
11: 87,623,093 (GRCm39) |
N731K |
probably benign |
Het |
Robo4 |
C |
T |
9: 37,315,772 (GRCm39) |
R342* |
probably null |
Het |
Sec23ip |
G |
A |
7: 128,355,797 (GRCm39) |
V307I |
probably benign |
Het |
Slc2a4 |
T |
A |
11: 69,836,997 (GRCm39) |
N116Y |
probably damaging |
Het |
Tas1r3 |
T |
A |
4: 155,944,659 (GRCm39) |
Q854L |
probably benign |
Het |
Tox3 |
G |
A |
8: 90,975,018 (GRCm39) |
Q538* |
probably null |
Het |
Trpm4 |
A |
G |
7: 44,960,022 (GRCm39) |
F771S |
probably damaging |
Het |
Tstd3 |
A |
T |
4: 21,759,375 (GRCm39) |
F132L |
possibly damaging |
Het |
Ulk2 |
T |
C |
11: 61,715,555 (GRCm39) |
|
probably null |
Het |
Unc13b |
T |
C |
4: 43,180,404 (GRCm39) |
Y3080H |
probably benign |
Het |
Utp25 |
A |
T |
1: 192,810,759 (GRCm39) |
N81K |
probably benign |
Het |
Vmn1r181 |
G |
T |
7: 23,683,943 (GRCm39) |
S136I |
possibly damaging |
Het |
Vmn2r114 |
A |
T |
17: 23,509,948 (GRCm39) |
M844K |
probably benign |
Het |
Vmn2r60 |
A |
T |
7: 41,785,857 (GRCm39) |
H220L |
probably benign |
Het |
Vps13a |
A |
G |
19: 16,680,963 (GRCm39) |
S1078P |
probably damaging |
Het |
Vwa8 |
G |
T |
14: 79,184,582 (GRCm39) |
R360L |
probably benign |
Het |
Xlr4b |
A |
T |
X: 72,258,938 (GRCm39) |
Q25L |
probably null |
Het |
Zdhhc22 |
T |
A |
12: 87,035,336 (GRCm39) |
T39S |
probably benign |
Het |
Zfp532 |
T |
A |
18: 65,789,697 (GRCm39) |
H1045Q |
possibly damaging |
Het |
Zfp773 |
AGCTGCTGCTGCTGCTGCTGCTGCTGC |
AGCTGCTGCTGCTGCTGCTGCTGC |
7: 7,136,092 (GRCm39) |
|
probably benign |
Het |
Zfp964 |
G |
C |
8: 70,116,504 (GRCm39) |
C368S |
unknown |
Het |
Zfp985 |
G |
A |
4: 147,667,468 (GRCm39) |
W112* |
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 |
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 |
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'- TTGTGCCTGATGAATCCATATCTG -3'
(R):5'- TTCATGTGTCAGTGGAGAGTGAAAG -3'
Sequencing Primer
(F):5'- GCCTGATGAATCCATATCTGATAAG -3'
(R):5'- TGCACTGTTAACACGGCC -3'
|
Posted On |
2014-12-04 |