Incidental Mutation 'R5325:Osbpl5'
| ID |
421893 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl5
|
| Ensembl Gene |
ENSMUSG00000037606 |
| Gene Name |
oxysterol binding protein-like 5 |
| Synonyms |
ORP5, 1110006M06Rik, Obph1 |
| MMRRC Submission |
042908-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5325 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
143242499-143310722 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 143245665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Proline
at position 816
(A816P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020411]
[ENSMUST00000119499]
|
| AlphaFold |
Q9ER64 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020411
AA Change: A840P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000020411
Gene: ENSMUSG00000037606
AA Change: A840P
| 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 damaging
Transcript: ENSMUST00000119499
AA Change: A816P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113362
Gene: ENSMUSG00000037606
AA Change: A816P
| 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 damaging
Transcript: ENSMUST00000121409
AA Change: A816P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113375
Gene: ENSMUSG00000037606
AA Change: A816P
| 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 |
0.1598 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (55/56) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
T |
A |
11: 105,896,079 (GRCm39) |
M675K |
probably benign |
Het |
| Ccdc186 |
A |
T |
19: 56,801,613 (GRCm39) |
I168N |
probably damaging |
Het |
| Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
| Cep83 |
A |
G |
10: 94,573,768 (GRCm39) |
E219G |
probably damaging |
Het |
| Ctsj |
T |
C |
13: 61,151,839 (GRCm39) |
T73A |
possibly damaging |
Het |
| Ddr2 |
T |
A |
1: 169,829,406 (GRCm39) |
T283S |
probably benign |
Het |
| Ehbp1 |
T |
A |
11: 22,045,370 (GRCm39) |
D768V |
possibly damaging |
Het |
| Evpl |
T |
C |
11: 116,112,191 (GRCm39) |
D1833G |
probably damaging |
Het |
| Exoc1 |
A |
G |
5: 76,685,549 (GRCm39) |
N87S |
probably benign |
Het |
| Fam98b |
A |
C |
2: 117,101,132 (GRCm39) |
I315L |
possibly damaging |
Het |
| Fancg |
A |
G |
4: 43,006,564 (GRCm39) |
V330A |
probably damaging |
Het |
| Fbxo30 |
G |
A |
10: 11,166,846 (GRCm39) |
V523I |
possibly damaging |
Het |
| Fbxw27 |
A |
G |
9: 109,599,161 (GRCm39) |
C419R |
probably damaging |
Het |
| Flt3 |
C |
A |
5: 147,312,459 (GRCm39) |
V161L |
probably benign |
Het |
| Fndc7 |
G |
A |
3: 108,790,765 (GRCm39) |
T87I |
probably damaging |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gm6457 |
A |
T |
18: 14,703,498 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr63 |
T |
C |
4: 25,007,294 (GRCm39) |
V6A |
probably benign |
Het |
| Grhl3 |
T |
A |
4: 135,286,415 (GRCm39) |
K89* |
probably null |
Het |
| H2-M10.2 |
C |
A |
17: 36,596,471 (GRCm39) |
V125L |
probably benign |
Het |
| Hrh4 |
C |
T |
18: 13,155,054 (GRCm39) |
Q198* |
probably null |
Het |
| Lrch4 |
A |
G |
5: 137,636,168 (GRCm39) |
E373G |
probably damaging |
Het |
| Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
| Noa1 |
A |
C |
5: 77,452,042 (GRCm39) |
D547E |
probably damaging |
Het |
| Nr2e1 |
G |
A |
10: 42,448,780 (GRCm39) |
R153W |
probably damaging |
Het |
| Nudt9 |
A |
C |
5: 104,198,487 (GRCm39) |
M1L |
possibly damaging |
Het |
| Odf2 |
T |
A |
2: 29,802,583 (GRCm39) |
D282E |
probably benign |
Het |
| Olfr908 |
A |
T |
9: 38,427,454 (GRCm39) |
N42I |
probably damaging |
Het |
| Or13a25 |
C |
A |
7: 140,247,705 (GRCm39) |
H168Q |
probably benign |
Het |
| Or6ae1 |
T |
A |
7: 139,742,026 (GRCm39) |
Y279F |
probably damaging |
Het |
| Pan2 |
T |
C |
10: 128,153,503 (GRCm39) |
I924T |
possibly damaging |
Het |
| Ppat |
A |
G |
5: 77,076,269 (GRCm39) |
|
probably benign |
Het |
| Rad50 |
T |
G |
11: 53,583,690 (GRCm39) |
I364L |
probably benign |
Het |
| Rnf7l |
A |
G |
10: 63,257,458 (GRCm39) |
S21P |
probably benign |
Het |
| Robo2 |
A |
G |
16: 73,770,673 (GRCm39) |
I484T |
possibly damaging |
Het |
| Ryr2 |
A |
T |
13: 11,705,249 (GRCm39) |
M2839K |
probably damaging |
Het |
| Sin3b |
A |
G |
8: 73,477,154 (GRCm39) |
D807G |
probably damaging |
Het |
| Sirpb1a |
G |
A |
3: 15,476,503 (GRCm39) |
T98I |
possibly damaging |
Het |
| Smim17 |
G |
A |
7: 6,432,321 (GRCm39) |
V88M |
probably damaging |
Het |
| Spib |
T |
C |
7: 44,177,505 (GRCm39) |
T229A |
probably damaging |
Het |
| St14 |
A |
T |
9: 31,008,274 (GRCm39) |
|
probably null |
Het |
| Syne4 |
A |
T |
7: 30,018,401 (GRCm39) |
Y381F |
probably damaging |
Het |
| Sytl1 |
T |
C |
4: 132,988,382 (GRCm39) |
|
probably benign |
Het |
| Tnpo3 |
A |
C |
6: 29,602,012 (GRCm39) |
|
probably benign |
Het |
| Trim12a |
T |
A |
7: 103,953,413 (GRCm39) |
I233F |
probably damaging |
Het |
| Tspan1 |
T |
A |
4: 116,021,536 (GRCm39) |
N82Y |
probably damaging |
Het |
| Vmn1r60 |
T |
A |
7: 5,547,201 (GRCm39) |
M300L |
probably benign |
Het |
| Wdr17 |
G |
A |
8: 55,112,716 (GRCm39) |
A788V |
possibly damaging |
Het |
| Wwtr1 |
A |
T |
3: 57,482,658 (GRCm39) |
V63E |
probably benign |
Het |
| Ylpm1 |
A |
G |
12: 85,060,735 (GRCm39) |
|
probably benign |
Het |
| Zfp956 |
T |
C |
6: 47,928,012 (GRCm39) |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGCTTCCACACACCTGG -3'
(R):5'- CTTGGTGACTCATCTCTAAGGC -3'
Sequencing Primer
(F):5'- ACACACCTGGGAGGCTTC -3'
(R):5'- GGTGACTCATCTCTAAGGCTTACAAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation