Incidental Mutation 'R5617:Osbpl5'
| ID |
439582 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl5
|
| Ensembl Gene |
ENSMUSG00000037606 |
| Gene Name |
oxysterol binding protein-like 5 |
| Synonyms |
ORP5, 1110006M06Rik, Obph1 |
| MMRRC Submission |
043276-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5617 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
143242499-143310722 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 143246684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 765
(D765G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020411]
[ENSMUST00000119499]
|
| AlphaFold |
Q9ER64 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020411
AA Change: D789G
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020411
Gene: ENSMUSG00000037606
AA Change: D789G
| 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 |
possibly damaging
Transcript: ENSMUST00000119499
AA Change: D765G
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113362
Gene: ENSMUSG00000037606
AA Change: D765G
| 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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121409
AA Change: D765G
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113375
Gene: ENSMUSG00000037606
AA Change: D765G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137627
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140502
|
| Meta Mutation Damage Score |
0.0871 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (59/59) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,227,891 (GRCm39) |
L645F |
probably benign |
Het |
| Acss3 |
T |
C |
10: 106,787,851 (GRCm39) |
Y522C |
probably damaging |
Het |
| Asb18 |
A |
G |
1: 89,882,184 (GRCm39) |
V118A |
possibly damaging |
Het |
| Aste1 |
T |
A |
9: 105,275,034 (GRCm39) |
C8S |
probably benign |
Het |
| Atp10a |
A |
G |
7: 58,453,423 (GRCm39) |
S834G |
probably benign |
Het |
| Cdh18 |
A |
G |
15: 23,226,854 (GRCm39) |
D105G |
probably damaging |
Het |
| Cenpb |
T |
C |
2: 131,020,934 (GRCm39) |
E288G |
probably damaging |
Het |
| Clcnka |
C |
T |
4: 141,116,628 (GRCm39) |
G541D |
probably null |
Het |
| Dctn3 |
T |
C |
4: 41,716,407 (GRCm39) |
I134V |
possibly damaging |
Het |
| Dennd4b |
T |
C |
3: 90,182,933 (GRCm39) |
S917P |
probably benign |
Het |
| Fam135b |
A |
T |
15: 71,493,865 (GRCm39) |
D21E |
probably damaging |
Het |
| Fam174a |
T |
C |
1: 95,241,972 (GRCm39) |
V144A |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,639,042 (GRCm39) |
Y1087H |
probably damaging |
Het |
| Gm7275 |
A |
T |
16: 47,894,527 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9271 |
G |
T |
7: 39,013,076 (GRCm39) |
|
noncoding transcript |
Het |
| Grm2 |
T |
C |
9: 106,528,275 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
A |
5: 35,028,150 (GRCm39) |
V1802D |
possibly damaging |
Het |
| Ighv1-75 |
C |
A |
12: 115,797,874 (GRCm39) |
G16V |
probably benign |
Het |
| Krt78 |
G |
A |
15: 101,856,044 (GRCm39) |
T589I |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,631,993 (GRCm39) |
|
probably benign |
Het |
| Lbr |
A |
T |
1: 181,656,467 (GRCm39) |
V227D |
probably benign |
Het |
| Lsamp |
T |
C |
16: 41,954,786 (GRCm39) |
V211A |
probably damaging |
Het |
| Map3k19 |
G |
A |
1: 127,750,703 (GRCm39) |
R883C |
probably damaging |
Het |
| Marchf8 |
A |
C |
6: 116,380,481 (GRCm39) |
I111L |
possibly damaging |
Het |
| Mrps10 |
T |
A |
17: 47,689,167 (GRCm39) |
M187K |
probably benign |
Het |
| Ncdn |
G |
A |
4: 126,638,840 (GRCm39) |
R660C |
probably damaging |
Het |
| Notum |
A |
T |
11: 120,547,171 (GRCm39) |
Y332* |
probably null |
Het |
| Nr1h5 |
A |
T |
3: 102,855,145 (GRCm39) |
L319I |
probably damaging |
Het |
| Or51q1 |
A |
T |
7: 103,628,921 (GRCm39) |
H180L |
possibly damaging |
Het |
| Or8k35 |
T |
A |
2: 86,424,345 (GRCm39) |
I276L |
probably benign |
Het |
| Parp3 |
C |
T |
9: 106,351,704 (GRCm39) |
V170M |
possibly damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,471,504 (GRCm39) |
|
probably benign |
Het |
| Pcdha9 |
T |
G |
18: 37,131,869 (GRCm39) |
S313A |
probably benign |
Het |
| Pfkm |
A |
G |
15: 98,020,107 (GRCm39) |
R201G |
possibly damaging |
Het |
| Pgm5 |
G |
A |
19: 24,727,765 (GRCm39) |
R375* |
probably null |
Het |
| Phactr2 |
A |
G |
10: 13,349,809 (GRCm39) |
S72P |
possibly damaging |
Het |
| Plaat1 |
A |
T |
16: 29,039,162 (GRCm39) |
R81* |
probably null |
Het |
| Plec |
A |
G |
15: 76,058,732 (GRCm39) |
L3600P |
probably damaging |
Het |
| Pou6f1 |
G |
A |
15: 100,483,874 (GRCm39) |
T208M |
possibly damaging |
Het |
| Rabep1 |
C |
T |
11: 70,808,355 (GRCm39) |
S394L |
probably damaging |
Het |
| Ranbp2 |
T |
G |
10: 58,301,489 (GRCm39) |
F687C |
probably damaging |
Het |
| Ranbp6 |
A |
G |
19: 29,789,863 (GRCm39) |
F163S |
probably damaging |
Het |
| Rcor3 |
T |
C |
1: 191,804,430 (GRCm39) |
N240D |
probably benign |
Het |
| Samd13 |
C |
A |
3: 146,352,065 (GRCm39) |
K95N |
probably benign |
Het |
| Slc25a17 |
G |
T |
15: 81,244,975 (GRCm39) |
|
probably benign |
Het |
| Slfn8 |
G |
T |
11: 82,895,547 (GRCm39) |
H420N |
probably benign |
Het |
| Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
| Stim2 |
G |
A |
5: 54,267,075 (GRCm39) |
E21K |
probably damaging |
Het |
| Tmem163 |
A |
G |
1: 127,479,067 (GRCm39) |
Y151H |
possibly damaging |
Het |
| Trio |
A |
G |
15: 27,902,834 (GRCm39) |
I209T |
probably benign |
Het |
| Tubal3 |
T |
A |
13: 3,983,432 (GRCm39) |
L404H |
probably damaging |
Het |
| Ubqln3 |
A |
G |
7: 103,791,640 (GRCm39) |
F150S |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 38,030,901 (GRCm39) |
S425G |
possibly damaging |
Het |
| Vmn2r52 |
T |
A |
7: 9,904,861 (GRCm39) |
H326L |
probably damaging |
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 |
|
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 |
|
R8314:Osbpl5
|
UTSW |
7 |
143,248,833 (GRCm39) |
missense |
probably benign |
0.05 |
|
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'- TGTTCTCCCTGCTAGTCAAGG -3'
(R):5'- AACTGAGGCCACTGAGATGG -3'
Sequencing Primer
(F):5'- TCAAGGTCCAAGGTGTTCAC -3'
(R):5'- CCACTGAGATGGAATGGCTTC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation