Incidental Mutation 'IGL01560:Osbpl5'
| ID |
90817 |
| 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 # |
IGL01560
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
143242499-143310722 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 143269430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 49
(E49*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115141
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020411]
[ENSMUST00000119499]
[ENSMUST00000134056]
|
| AlphaFold |
Q9ER64 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020411
AA Change: E61*
|
| SMART Domains |
Protein: ENSMUSP00000020411
Gene: ENSMUSG00000037606
AA Change: E61*
| 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
AA Change: E37*
|
| SMART Domains |
Protein: ENSMUSP00000113362
Gene: ENSMUSG00000037606
AA Change: E37*
| 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 |
probably null
Transcript: ENSMUST00000134056
AA Change: E49*
|
| SMART Domains |
Protein: ENSMUSP00000115141
Gene: ENSMUSG00000037606
AA Change: E49*
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1V88|A
|
122 |
187 |
7e-33 |
PDB |
|
SCOP:d1fgya_
|
125 |
187 |
3e-10 |
SMART |
|
Blast:PH
|
127 |
187 |
5e-38 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153864
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap28 |
A |
T |
17: 68,203,066 (GRCm39) |
I129N |
probably damaging |
Het |
| Arsb |
A |
G |
13: 93,944,106 (GRCm39) |
I266V |
probably benign |
Het |
| Atp6v1b1 |
A |
G |
6: 83,726,897 (GRCm39) |
|
probably benign |
Het |
| Cacna1d |
C |
T |
14: 29,821,163 (GRCm39) |
V1118I |
probably benign |
Het |
| Cadps |
A |
T |
14: 12,491,792 (GRCm38) |
V791D |
probably damaging |
Het |
| Cdh2 |
T |
C |
18: 16,783,495 (GRCm39) |
D78G |
probably benign |
Het |
| Fem1al |
A |
T |
11: 29,774,643 (GRCm39) |
Y271* |
probably null |
Het |
| Flnb |
T |
G |
14: 7,893,829 (GRCm38) |
I714S |
probably benign |
Het |
| Fzd1 |
A |
G |
5: 4,806,037 (GRCm39) |
M515T |
probably benign |
Het |
| Lrpprc |
A |
T |
17: 85,015,547 (GRCm39) |
F1288Y |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,659,191 (GRCm39) |
I1868V |
probably benign |
Het |
| Mmel1 |
A |
G |
4: 154,976,967 (GRCm39) |
D561G |
probably null |
Het |
| Mypn |
A |
T |
10: 62,970,743 (GRCm39) |
V887E |
probably benign |
Het |
| Or4c118 |
C |
T |
2: 88,974,947 (GRCm39) |
C140Y |
probably damaging |
Het |
| Or6p1 |
A |
T |
1: 174,258,467 (GRCm39) |
M158L |
probably benign |
Het |
| Or7g28 |
T |
C |
9: 19,271,842 (GRCm39) |
T270A |
probably benign |
Het |
| Prpf8 |
A |
G |
11: 75,381,232 (GRCm39) |
Q189R |
possibly damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Six6 |
T |
A |
12: 72,986,831 (GRCm39) |
M1K |
probably null |
Het |
| Slc13a4 |
A |
G |
6: 35,248,538 (GRCm39) |
|
probably benign |
Het |
| Slc17a1 |
T |
A |
13: 24,058,612 (GRCm39) |
I22N |
probably damaging |
Het |
| Thsd7b |
C |
T |
1: 130,145,918 (GRCm39) |
|
probably benign |
Het |
| Thumpd3 |
A |
G |
6: 113,040,120 (GRCm39) |
I335V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,602,016 (GRCm39) |
T18549A |
possibly damaging |
Het |
| Ugt2b37 |
G |
T |
5: 87,399,698 (GRCm39) |
P270Q |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,105,352 (GRCm39) |
Y158* |
probably null |
Het |
| Zfp282 |
A |
T |
6: 47,857,211 (GRCm39) |
E148V |
probably damaging |
Het |
|
| Other mutations in Osbpl5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-12-09 |
Incidental Mutation