Incidental Mutation 'R8314:Osbpl5'
ID |
641566 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Osbpl5
|
Ensembl Gene |
ENSMUSG00000037606 |
Gene Name |
oxysterol binding protein-like 5 |
Synonyms |
ORP5, 1110006M06Rik, Obph1 |
MMRRC Submission |
067719-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8314 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
143242499-143310722 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 143248833 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 608
(I608V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020411
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020411]
[ENSMUST00000119499]
|
AlphaFold |
Q9ER64 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020411
AA Change: I608V
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000020411 Gene: ENSMUSG00000037606 AA Change: I608V
Domain | Start | End | E-Value | Type |
PH
|
151 |
269 |
1.02e-14 |
SMART |
Pfam:Oxysterol_BP
|
394 |
738 |
2.9e-91 |
PFAM |
transmembrane domain
|
879 |
897 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119499
AA Change: I584V
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000113362 Gene: ENSMUSG00000037606 AA Change: I584V
Domain | Start | End | E-Value | Type |
coiled coil region
|
92 |
122 |
N/A |
INTRINSIC |
PH
|
127 |
245 |
1.02e-14 |
SMART |
Pfam:Oxysterol_BP
|
369 |
724 |
1e-93 |
PFAM |
transmembrane domain
|
855 |
873 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
100% (67/67) |
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 that play a key role in the maintenance of cholesterol balance in the body. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. This gene has been shown to be imprinted, with preferential expression from the maternal allele only in placenta. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110059G10Rik |
T |
A |
9: 122,777,993 (GRCm39) |
T84S |
probably benign |
Het |
4930533K18Rik |
A |
G |
10: 70,711,106 (GRCm39) |
T76A |
noncoding transcript |
Het |
Adgrl1 |
C |
T |
8: 84,665,018 (GRCm39) |
T1235I |
probably damaging |
Het |
Ak4 |
C |
T |
4: 101,320,782 (GRCm39) |
T197M |
possibly damaging |
Het |
Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
Alox12e |
T |
C |
11: 70,206,998 (GRCm39) |
M603V |
possibly damaging |
Het |
Ap3d1 |
A |
T |
10: 80,559,373 (GRCm39) |
I267N |
possibly damaging |
Het |
Arhgef2 |
T |
A |
3: 88,528,600 (GRCm39) |
I12N |
probably benign |
Het |
Asnsd1 |
A |
T |
1: 53,385,814 (GRCm39) |
M520K |
probably damaging |
Het |
B3galt5 |
T |
C |
16: 96,116,649 (GRCm39) |
L94P |
probably damaging |
Het |
Birc2 |
T |
C |
9: 7,872,942 (GRCm39) |
|
probably benign |
Het |
Cd177 |
T |
C |
7: 24,450,013 (GRCm39) |
S541G |
probably benign |
Het |
Cdh8 |
T |
C |
8: 99,898,011 (GRCm39) |
D434G |
probably damaging |
Het |
Cdkn3 |
A |
T |
14: 47,007,330 (GRCm39) |
|
silent |
Het |
Ciita |
A |
T |
16: 10,328,852 (GRCm39) |
R379W |
probably damaging |
Het |
Cntrl |
T |
A |
2: 35,065,155 (GRCm39) |
M2153K |
probably benign |
Het |
Csmd1 |
A |
T |
8: 16,208,258 (GRCm39) |
D1232E |
probably benign |
Het |
Cyp4a30b |
A |
C |
4: 115,315,535 (GRCm39) |
H252P |
probably benign |
Het |
Dad1 |
G |
A |
14: 54,491,269 (GRCm39) |
R11W |
probably damaging |
Het |
Ddit3 |
A |
G |
10: 127,131,590 (GRCm39) |
|
probably null |
Het |
Dusp22 |
G |
A |
13: 30,892,914 (GRCm39) |
|
probably benign |
Het |
Dzank1 |
A |
G |
2: 144,344,878 (GRCm39) |
L293P |
probably damaging |
Het |
Edf1 |
A |
G |
2: 25,447,977 (GRCm39) |
D5G |
probably damaging |
Het |
Entrep3 |
T |
C |
3: 89,095,453 (GRCm39) |
|
probably null |
Het |
Ep400 |
T |
A |
5: 110,903,619 (GRCm39) |
M327L |
unknown |
Het |
Fam135a |
A |
T |
1: 24,061,002 (GRCm39) |
H1341Q |
possibly damaging |
Het |
Fbxl3 |
C |
T |
14: 103,326,876 (GRCm39) |
V169I |
probably benign |
Het |
Gm4787 |
A |
G |
12: 81,425,909 (GRCm39) |
L83P |
probably damaging |
Het |
Habp4 |
A |
G |
13: 64,332,565 (GRCm39) |
E392G |
probably damaging |
Het |
Hspg2 |
C |
A |
4: 137,266,986 (GRCm39) |
P1997Q |
probably benign |
Het |
Ints9 |
T |
C |
14: 65,266,479 (GRCm39) |
S444P |
probably damaging |
Het |
Kif18b |
G |
A |
11: 102,803,900 (GRCm39) |
S420L |
probably benign |
Het |
Klhl17 |
T |
A |
4: 156,318,470 (GRCm39) |
M51L |
probably benign |
Het |
Kmt2b |
C |
T |
7: 30,278,347 (GRCm39) |
E1555K |
probably damaging |
Het |
Malrd1 |
T |
A |
2: 15,757,643 (GRCm39) |
D972E |
unknown |
Het |
Mapk8ip3 |
A |
T |
17: 25,120,748 (GRCm39) |
S805R |
probably benign |
Het |
Mmp13 |
G |
A |
9: 7,272,931 (GRCm39) |
C97Y |
probably damaging |
Het |
Moxd1 |
T |
A |
10: 24,128,438 (GRCm39) |
N163K |
possibly damaging |
Het |
Nbea |
T |
C |
3: 55,916,672 (GRCm39) |
I863V |
probably damaging |
Het |
Nectin4 |
A |
G |
1: 171,212,295 (GRCm39) |
T298A |
probably benign |
Het |
Net1 |
T |
C |
13: 3,962,672 (GRCm39) |
|
probably benign |
Het |
Ntn1 |
T |
C |
11: 68,276,450 (GRCm39) |
D166G |
probably damaging |
Het |
Opa3 |
C |
A |
7: 18,978,940 (GRCm39) |
A135E |
possibly damaging |
Het |
Or1e31 |
T |
G |
11: 73,690,568 (GRCm39) |
N5T |
noncoding transcript |
Het |
Or4c3d |
T |
C |
2: 89,882,441 (GRCm39) |
T76A |
probably benign |
Het |
Or51v14 |
T |
C |
7: 103,261,254 (GRCm39) |
Q102R |
probably damaging |
Het |
Or5w14 |
A |
G |
2: 87,541,546 (GRCm39) |
F235L |
probably benign |
Het |
Or8g30 |
A |
G |
9: 39,230,601 (GRCm39) |
F103S |
probably damaging |
Het |
Phc1 |
A |
C |
6: 122,297,937 (GRCm39) |
S782R |
unknown |
Het |
Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
Pip5k1b |
T |
A |
19: 24,332,563 (GRCm39) |
T374S |
probably benign |
Het |
Prkaa1 |
A |
G |
15: 5,208,354 (GRCm39) |
S541G |
probably damaging |
Het |
Ptpn20 |
A |
G |
14: 33,344,504 (GRCm39) |
N143D |
possibly damaging |
Het |
Rabep1 |
A |
G |
11: 70,784,486 (GRCm39) |
D207G |
possibly damaging |
Het |
Rbbp8 |
G |
A |
18: 11,853,682 (GRCm39) |
M296I |
probably benign |
Het |
Recql4 |
C |
A |
15: 76,594,380 (GRCm39) |
R46L |
probably damaging |
Het |
Scgb2b18 |
T |
C |
7: 32,872,582 (GRCm39) |
I74M |
probably benign |
Het |
Shc4 |
A |
G |
2: 125,497,536 (GRCm39) |
I391T |
possibly damaging |
Het |
Slc38a4 |
A |
G |
15: 96,908,190 (GRCm39) |
F184L |
probably benign |
Het |
Slc7a6 |
A |
G |
8: 106,895,590 (GRCm39) |
|
probably benign |
Het |
Smim13 |
G |
T |
13: 41,426,110 (GRCm39) |
G49* |
probably null |
Het |
Tbc1d19 |
A |
G |
5: 54,054,389 (GRCm39) |
D459G |
probably damaging |
Het |
Tnpo1 |
T |
C |
13: 99,021,133 (GRCm39) |
N82S |
possibly damaging |
Het |
Tpp2 |
G |
A |
1: 43,973,387 (GRCm39) |
V47I |
probably benign |
Het |
Umodl1 |
G |
T |
17: 31,203,806 (GRCm39) |
A540S |
probably damaging |
Het |
Vmn2r83 |
G |
A |
10: 79,317,313 (GRCm39) |
V519I |
possibly damaging |
Het |
Zfp641 |
T |
C |
15: 98,188,464 (GRCm39) |
I139V |
probably damaging |
Het |
Zfyve21 |
A |
T |
12: 111,789,715 (GRCm39) |
I60F |
probably benign |
Het |
|
Other mutations in Osbpl5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01560:Osbpl5
|
APN |
7 |
143,269,430 (GRCm39) |
nonsense |
probably null |
|
IGL01996:Osbpl5
|
APN |
7 |
143,261,081 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02135:Osbpl5
|
APN |
7 |
143,258,862 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02331:Osbpl5
|
APN |
7 |
143,263,532 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02993:Osbpl5
|
APN |
7 |
143,253,071 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0240:Osbpl5
|
UTSW |
7 |
143,295,406 (GRCm39) |
splice site |
probably null |
|
R0601:Osbpl5
|
UTSW |
7 |
143,263,286 (GRCm39) |
missense |
probably damaging |
0.98 |
R0609:Osbpl5
|
UTSW |
7 |
143,248,558 (GRCm39) |
missense |
probably damaging |
0.99 |
R0659:Osbpl5
|
UTSW |
7 |
143,258,767 (GRCm39) |
missense |
probably damaging |
0.97 |
R1532:Osbpl5
|
UTSW |
7 |
143,248,817 (GRCm39) |
missense |
probably benign |
|
R1579:Osbpl5
|
UTSW |
7 |
143,262,939 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1595:Osbpl5
|
UTSW |
7 |
143,256,955 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1666:Osbpl5
|
UTSW |
7 |
143,262,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R1668:Osbpl5
|
UTSW |
7 |
143,262,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R1713:Osbpl5
|
UTSW |
7 |
143,248,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R1868:Osbpl5
|
UTSW |
7 |
143,269,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R1901:Osbpl5
|
UTSW |
7 |
143,256,918 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1902:Osbpl5
|
UTSW |
7 |
143,256,918 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1903:Osbpl5
|
UTSW |
7 |
143,256,918 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1911:Osbpl5
|
UTSW |
7 |
143,243,662 (GRCm39) |
missense |
probably benign |
0.00 |
R1982:Osbpl5
|
UTSW |
7 |
143,295,408 (GRCm39) |
critical splice donor site |
probably null |
|
R2014:Osbpl5
|
UTSW |
7 |
143,295,429 (GRCm39) |
missense |
probably damaging |
0.98 |
R2076:Osbpl5
|
UTSW |
7 |
143,262,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R2192:Osbpl5
|
UTSW |
7 |
143,247,596 (GRCm39) |
nonsense |
probably null |
|
R2256:Osbpl5
|
UTSW |
7 |
143,262,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R4271:Osbpl5
|
UTSW |
7 |
143,249,339 (GRCm39) |
nonsense |
probably null |
|
R4418:Osbpl5
|
UTSW |
7 |
143,263,552 (GRCm39) |
nonsense |
probably null |
|
R4450:Osbpl5
|
UTSW |
7 |
143,248,643 (GRCm39) |
missense |
probably benign |
0.00 |
R4573:Osbpl5
|
UTSW |
7 |
143,248,053 (GRCm39) |
missense |
probably benign |
0.00 |
R5325:Osbpl5
|
UTSW |
7 |
143,245,665 (GRCm39) |
missense |
probably damaging |
0.99 |
R5439:Osbpl5
|
UTSW |
7 |
143,295,433 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5617:Osbpl5
|
UTSW |
7 |
143,246,684 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5775:Osbpl5
|
UTSW |
7 |
143,258,266 (GRCm39) |
missense |
probably benign |
0.00 |
R5935:Osbpl5
|
UTSW |
7 |
143,310,695 (GRCm39) |
start gained |
probably benign |
|
R6906:Osbpl5
|
UTSW |
7 |
143,248,065 (GRCm39) |
missense |
probably damaging |
0.99 |
R7076:Osbpl5
|
UTSW |
7 |
143,263,577 (GRCm39) |
missense |
probably benign |
0.12 |
R7117:Osbpl5
|
UTSW |
7 |
143,263,520 (GRCm39) |
missense |
probably benign |
0.01 |
R7292:Osbpl5
|
UTSW |
7 |
143,255,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R7555:Osbpl5
|
UTSW |
7 |
143,248,670 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7594:Osbpl5
|
UTSW |
7 |
143,247,534 (GRCm39) |
missense |
probably benign |
0.02 |
R8028:Osbpl5
|
UTSW |
7 |
143,269,472 (GRCm39) |
missense |
probably benign |
0.00 |
R8061:Osbpl5
|
UTSW |
7 |
143,256,461 (GRCm39) |
missense |
probably benign |
0.03 |
R8482:Osbpl5
|
UTSW |
7 |
143,258,731 (GRCm39) |
missense |
probably benign |
0.12 |
R9202:Osbpl5
|
UTSW |
7 |
143,254,498 (GRCm39) |
missense |
probably benign |
0.45 |
R9430:Osbpl5
|
UTSW |
7 |
143,263,526 (GRCm39) |
missense |
probably benign |
0.01 |
R9687:Osbpl5
|
UTSW |
7 |
143,247,598 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9735:Osbpl5
|
UTSW |
7 |
143,248,673 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9749:Osbpl5
|
UTSW |
7 |
143,249,308 (GRCm39) |
missense |
probably benign |
0.14 |
YA93:Osbpl5
|
UTSW |
7 |
143,247,607 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- TCACTCGGAGTCCAGAAGAG -3'
(R):5'- CAGACTCTATAGGTTTGGGTCCAG -3'
Sequencing Primer
(F):5'- AGTCCAGAAGAGCTCGGTGC -3'
(R):5'- TTTGGGTCCAGGTCAAGACAG -3'
|
Posted On |
2020-07-28 |