Incidental Mutation 'IGL02993:Osbpl5'
| ID |
407045 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Osbpl5
|
| Ensembl Gene |
ENSMUSG00000037606 |
| Gene Name |
oxysterol binding protein-like 5 |
| Synonyms |
ORP5, 1110006M06Rik, Obph1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02993
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
143242499-143310722 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 143253071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020411]
[ENSMUST00000119499]
|
| AlphaFold |
Q9ER64 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020411
|
| SMART Domains |
Protein: ENSMUSP00000020411
Gene: ENSMUSG00000037606
| 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 null
Transcript: ENSMUST00000119499
|
| SMART Domains |
Protein: ENSMUSP00000113362
Gene: ENSMUSG00000037606
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149736
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd3 |
A |
C |
3: 121,567,659 (GRCm39) |
I434S |
probably benign |
Het |
| Actr2 |
C |
T |
11: 20,022,514 (GRCm39) |
R319Q |
probably damaging |
Het |
| Atp13a5 |
G |
T |
16: 29,112,322 (GRCm39) |
Y606* |
probably null |
Het |
| Baiap3 |
C |
T |
17: 25,469,056 (GRCm39) |
|
probably null |
Het |
| Cers2 |
A |
G |
3: 95,227,396 (GRCm39) |
Y8C |
probably benign |
Het |
| Ces1g |
T |
A |
8: 94,043,707 (GRCm39) |
M411L |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,894,304 (GRCm39) |
|
probably benign |
Het |
| Cyp2d40 |
C |
A |
15: 82,645,722 (GRCm39) |
K94N |
probably benign |
Het |
| Ddx51 |
T |
C |
5: 110,803,487 (GRCm39) |
V323A |
possibly damaging |
Het |
| Dock1 |
G |
A |
7: 134,346,027 (GRCm39) |
V190I |
probably benign |
Het |
| Evc2 |
A |
G |
5: 37,576,501 (GRCm39) |
T1042A |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,011,304 (GRCm39) |
S2135T |
probably damaging |
Het |
| Gpat2 |
T |
C |
2: 127,269,486 (GRCm39) |
F46S |
probably damaging |
Het |
| Klhl38 |
T |
A |
15: 58,185,851 (GRCm39) |
K293* |
probably null |
Het |
| Map4k4 |
T |
C |
1: 40,053,348 (GRCm39) |
I916T |
probably damaging |
Het |
| Nrap |
T |
A |
19: 56,333,965 (GRCm39) |
K964M |
probably damaging |
Het |
| Perm1 |
A |
G |
4: 156,302,236 (GRCm39) |
Q260R |
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,279,314 (GRCm39) |
N133K |
possibly damaging |
Het |
| Scart2 |
A |
G |
7: 139,876,486 (GRCm39) |
T537A |
probably benign |
Het |
| Slfn9 |
T |
C |
11: 82,872,022 (GRCm39) |
S905G |
probably benign |
Het |
| Spata31g1 |
T |
C |
4: 42,971,719 (GRCm39) |
Y351H |
probably damaging |
Het |
| Ssh2 |
C |
T |
11: 77,344,370 (GRCm39) |
T785I |
probably damaging |
Het |
| Stk16 |
C |
A |
1: 75,189,648 (GRCm39) |
Q69K |
probably damaging |
Het |
| Stk36 |
T |
C |
1: 74,661,446 (GRCm39) |
L491P |
probably benign |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tcp11 |
T |
C |
17: 28,289,490 (GRCm39) |
N194D |
probably damaging |
Het |
| Trio |
C |
A |
15: 27,830,325 (GRCm39) |
|
probably benign |
Het |
| Ugt2b1 |
A |
G |
5: 87,069,850 (GRCm39) |
V297A |
possibly damaging |
Het |
| Ugt2b5 |
T |
G |
5: 87,285,091 (GRCm39) |
H282P |
probably damaging |
Het |
| Usp53 |
A |
G |
3: 122,727,492 (GRCm39) |
M1030T |
probably damaging |
Het |
| Vmn1r234 |
T |
A |
17: 21,449,965 (GRCm39) |
I293N |
probably damaging |
Het |
| Vmn2r57 |
T |
A |
7: 41,077,498 (GRCm39) |
T223S |
probably benign |
Het |
| Wdr20 |
G |
T |
12: 110,760,742 (GRCm39) |
E543* |
probably null |
Het |
| Zbtb25 |
T |
A |
12: 76,396,191 (GRCm39) |
N344Y |
probably damaging |
Het |
| Zcchc2 |
T |
C |
1: 105,957,898 (GRCm39) |
F790L |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation