Incidental Mutation 'R1353:Osbpl8'
| ID |
157101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl8
|
| Ensembl Gene |
ENSMUSG00000020189 |
| Gene Name |
oxysterol binding protein-like 8 |
| Synonyms |
ORP-8, D330025H14Rik |
| MMRRC Submission |
039418-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R1353 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
111000663-111133110 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111112340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 485
(N485S)
|
| 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: N443S
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000092948
Gene: ENSMUSG00000020189
AA Change: N443S
| 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: N485S
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000100911
Gene: ENSMUSG00000020189
AA Change: N485S
| 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: 98.8%
- 3x: 97.6%
- 10x: 94.1%
- 20x: 86.4%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Astn2 |
T |
C |
4: 66,184,572 (GRCm39) |
Q175R |
unknown |
Het |
| Capn9 |
A |
C |
8: 125,332,305 (GRCm39) |
|
probably null |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Chd7 |
A |
G |
4: 8,839,556 (GRCm39) |
N1364S |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,178,033 (GRCm39) |
V3607E |
probably damaging |
Het |
| Crb2 |
T |
C |
2: 37,677,293 (GRCm39) |
C262R |
probably damaging |
Het |
| Cyp2t4 |
A |
G |
7: 26,856,055 (GRCm39) |
N204S |
probably benign |
Het |
| Epha1 |
T |
C |
6: 42,338,771 (GRCm39) |
T676A |
probably damaging |
Het |
| Fancm |
G |
A |
12: 65,134,944 (GRCm39) |
V246M |
probably damaging |
Het |
| Fcrl5 |
T |
C |
3: 87,355,669 (GRCm39) |
S461P |
probably damaging |
Het |
| Gen1 |
A |
T |
12: 11,293,220 (GRCm39) |
L394Q |
probably benign |
Het |
| Hsdl2 |
G |
T |
4: 59,596,971 (GRCm39) |
|
probably null |
Het |
| Klri2 |
C |
T |
6: 129,716,049 (GRCm39) |
G97S |
probably damaging |
Het |
| Lypla2 |
T |
C |
4: 135,697,778 (GRCm39) |
I55V |
probably null |
Het |
| Malrd1 |
A |
G |
2: 16,132,779 (GRCm39) |
D1900G |
unknown |
Het |
| Map1b |
A |
G |
13: 99,563,834 (GRCm39) |
S2378P |
unknown |
Het |
| Marchf3 |
A |
T |
18: 56,909,177 (GRCm39) |
|
probably null |
Het |
| Myom2 |
G |
T |
8: 15,156,424 (GRCm39) |
W757L |
probably damaging |
Het |
| Nat10 |
T |
A |
2: 103,584,418 (GRCm39) |
M120L |
possibly damaging |
Het |
| Ncam2 |
T |
G |
16: 80,997,803 (GRCm39) |
M1R |
probably null |
Het |
| Ncoa4 |
G |
T |
14: 31,892,815 (GRCm39) |
G33* |
probably null |
Het |
| Or1j1 |
C |
A |
2: 36,702,926 (GRCm39) |
M59I |
possibly damaging |
Het |
| Or1x2 |
G |
A |
11: 50,917,833 (GRCm39) |
M1I |
probably null |
Het |
| Or2a20 |
T |
A |
6: 43,194,624 (GRCm39) |
M259K |
probably benign |
Het |
| Or4p21 |
T |
C |
2: 88,276,895 (GRCm39) |
H129R |
probably benign |
Het |
| Or6c38 |
C |
T |
10: 128,929,733 (GRCm39) |
V37I |
probably benign |
Het |
| Or8b41 |
A |
C |
9: 38,055,024 (GRCm39) |
I198L |
probably benign |
Het |
| Pkdrej |
A |
T |
15: 85,703,119 (GRCm39) |
V939E |
probably damaging |
Het |
| Plaa |
T |
C |
4: 94,459,926 (GRCm39) |
E607G |
possibly damaging |
Het |
| Rtel1 |
T |
A |
2: 180,991,024 (GRCm39) |
C285S |
probably benign |
Het |
| Rtl1 |
A |
C |
12: 109,558,633 (GRCm39) |
C1069G |
probably benign |
Het |
| Rtn4 |
C |
A |
11: 29,657,595 (GRCm39) |
A583E |
probably damaging |
Het |
| Runx1 |
T |
A |
16: 92,485,939 (GRCm39) |
R32* |
probably null |
Het |
| Sdcbp |
A |
G |
4: 6,381,057 (GRCm39) |
I67M |
probably damaging |
Het |
| Slc22a12 |
G |
C |
19: 6,587,812 (GRCm39) |
L259V |
possibly damaging |
Het |
| Sptlc2 |
A |
G |
12: 87,388,520 (GRCm39) |
S321P |
probably damaging |
Het |
| Tmem30c |
C |
T |
16: 57,098,028 (GRCm39) |
G131D |
probably damaging |
Het |
| Tnfaip2 |
A |
T |
12: 111,411,403 (GRCm39) |
Q9L |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,576,910 (GRCm39) |
Y24661C |
probably damaging |
Het |
| Vmn2r77 |
T |
G |
7: 86,451,394 (GRCm39) |
F427V |
probably benign |
Het |
| Zcchc4 |
A |
G |
5: 52,964,419 (GRCm39) |
I292V |
probably benign |
Het |
| Zfp354b |
A |
T |
11: 50,814,240 (GRCm39) |
H228Q |
probably damaging |
Het |
| Zfp84 |
T |
A |
7: 29,475,600 (GRCm39) |
N97K |
probably benign |
Het |
| Zfp976 |
T |
C |
7: 42,265,442 (GRCm39) |
D49G |
probably damaging |
Het |
| Zgrf1 |
C |
T |
3: 127,405,452 (GRCm39) |
T1550I |
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 |
|
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 |
|
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'- CATCTCACAAGAATGCCTGCCTCTC -3'
(R):5'- AAGTGACGACAGCCATGCTCAG -3'
Sequencing Primer
(F):5'- AGGTTGTATACCAGCAGTTACC -3'
(R):5'- CTCAGCAGCATGGTATTCAGTAG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation