Incidental Mutation 'R1603:Osbpl3'
| ID |
176248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl3
|
| Ensembl Gene |
ENSMUSG00000029822 |
| Gene Name |
oxysterol binding protein-like 3 |
| Synonyms |
ORP3, 1200014M06Rik, 6720421I08Rik, OSBP3 |
| MMRRC Submission |
039640-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1603 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
50270310-50433181 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 50300073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 510
(K510N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071728]
[ENSMUST00000090019]
[ENSMUST00000114466]
[ENSMUST00000114468]
[ENSMUST00000203907]
|
| AlphaFold |
Q9DBS9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071728
AA Change: K474N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000071643
Gene: ENSMUSG00000029822
AA Change: K474N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
33 |
N/A |
INTRINSIC |
|
PH
|
51 |
147 |
9.56e-11 |
SMART |
|
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
|
Blast:PH
|
254 |
311 |
4e-25 |
BLAST |
|
low complexity region
|
392 |
425 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
459 |
804 |
3.2e-139 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090019
AA Change: K541N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000087473
Gene: ENSMUSG00000029822
AA Change: K541N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
33 |
N/A |
INTRINSIC |
|
PH
|
51 |
147 |
9.56e-11 |
SMART |
|
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
|
Blast:PH
|
288 |
342 |
4e-25 |
BLAST |
|
low complexity region
|
459 |
492 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
526 |
870 |
3e-136 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114466
AA Change: K505N
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110110
Gene: ENSMUSG00000029822
AA Change: K505N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
33 |
N/A |
INTRINSIC |
|
PH
|
51 |
147 |
9.56e-11 |
SMART |
|
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
|
Blast:PH
|
288 |
342 |
3e-25 |
BLAST |
|
low complexity region
|
423 |
456 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
490 |
835 |
3.5e-139 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114468
AA Change: K510N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110112
Gene: ENSMUSG00000029822
AA Change: K510N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
33 |
N/A |
INTRINSIC |
|
PH
|
51 |
147 |
9.56e-11 |
SMART |
|
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
|
Blast:PH
|
254 |
311 |
4e-25 |
BLAST |
|
low complexity region
|
428 |
461 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
495 |
840 |
1.3e-138 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133141
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203907
|
| SMART Domains |
Protein: ENSMUSP00000145249
Gene: ENSMUSG00000029822
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
91 |
1e-57 |
BLAST |
|
low complexity region
|
208 |
241 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.7684 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.3%
|
| Validation Efficiency |
96% (65/68) |
| 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. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. The encoded protein is involved in the regulation of cell adhesion and organization of the actin cytoskeleton. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110032F04Rik |
G |
A |
3: 68,777,546 (GRCm39) |
S169N |
probably benign |
Het |
| Ace |
T |
A |
11: 105,862,925 (GRCm39) |
S315R |
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,333,767 (GRCm39) |
I1491V |
probably benign |
Het |
| Adrb2 |
A |
T |
18: 62,312,579 (GRCm39) |
M82K |
probably damaging |
Het |
| Aebp2 |
A |
G |
6: 140,587,979 (GRCm39) |
N350D |
probably damaging |
Het |
| Ankrd42 |
T |
C |
7: 92,268,899 (GRCm39) |
|
probably benign |
Het |
| Asap1 |
A |
T |
15: 64,001,106 (GRCm39) |
C492S |
probably damaging |
Het |
| Atp8b3 |
C |
A |
10: 80,361,619 (GRCm39) |
A768S |
probably benign |
Het |
| Chga |
T |
A |
12: 102,530,866 (GRCm39) |
|
probably null |
Het |
| Clca4b |
A |
G |
3: 144,627,780 (GRCm39) |
V397A |
probably benign |
Het |
| Cntnap5a |
A |
C |
1: 116,339,831 (GRCm39) |
T697P |
possibly damaging |
Het |
| Col12a1 |
T |
C |
9: 79,520,244 (GRCm39) |
Q2810R |
probably damaging |
Het |
| Dchs1 |
G |
T |
7: 105,411,977 (GRCm39) |
R1380S |
probably benign |
Het |
| Dgkg |
T |
A |
16: 22,388,909 (GRCm39) |
|
probably benign |
Het |
| Dlgap3 |
G |
A |
4: 127,089,021 (GRCm39) |
G206R |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,295,131 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,449,326 (GRCm39) |
I4243L |
probably benign |
Het |
| Eif1ad16 |
C |
A |
12: 87,985,134 (GRCm39) |
E136D |
probably benign |
Het |
| Fbxw22 |
G |
T |
9: 109,207,915 (GRCm39) |
P452H |
probably benign |
Het |
| Fgl1 |
T |
A |
8: 41,650,055 (GRCm39) |
D242V |
probably damaging |
Het |
| Gba2 |
C |
T |
4: 43,567,823 (GRCm39) |
G794R |
probably damaging |
Het |
| Gimap7 |
A |
T |
6: 48,700,864 (GRCm39) |
D150V |
probably damaging |
Het |
| Gm5334 |
T |
C |
7: 68,268,620 (GRCm39) |
V13A |
probably benign |
Het |
| Grk5 |
T |
C |
19: 61,057,800 (GRCm39) |
F167L |
probably benign |
Het |
| Ice1 |
A |
G |
13: 70,751,472 (GRCm39) |
L1538P |
probably benign |
Het |
| Idh2 |
T |
G |
7: 79,748,906 (GRCm39) |
E125A |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,752,858 (GRCm39) |
|
probably null |
Het |
| Kras |
A |
T |
6: 145,170,871 (GRCm39) |
L168* |
probably null |
Het |
| Lrrc66 |
G |
A |
5: 73,764,769 (GRCm39) |
S758L |
possibly damaging |
Het |
| Mak |
T |
C |
13: 41,195,582 (GRCm39) |
D377G |
possibly damaging |
Het |
| Matn2 |
T |
C |
15: 34,388,914 (GRCm39) |
C335R |
probably damaging |
Het |
| Mcoln2 |
C |
T |
3: 145,885,977 (GRCm39) |
S276F |
probably damaging |
Het |
| Morc3 |
C |
A |
16: 93,663,391 (GRCm39) |
N531K |
probably benign |
Het |
| Obp2a |
G |
A |
2: 25,592,757 (GRCm39) |
S175N |
probably benign |
Het |
| Or2ak6 |
T |
C |
11: 58,593,286 (GRCm39) |
V253A |
probably benign |
Het |
| Or4n4b |
T |
G |
14: 50,536,491 (GRCm39) |
I92L |
possibly damaging |
Het |
| Or5an1b |
A |
T |
19: 12,299,348 (GRCm39) |
V281E |
probably damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,566,365 (GRCm39) |
S1026F |
probably damaging |
Het |
| Pom121l2 |
A |
T |
13: 22,167,514 (GRCm39) |
D595V |
probably damaging |
Het |
| Poteg |
T |
A |
8: 27,938,033 (GRCm39) |
M1K |
probably null |
Het |
| Rbl1 |
G |
A |
2: 157,017,579 (GRCm39) |
L547F |
possibly damaging |
Het |
| Rpap3 |
T |
C |
15: 97,599,002 (GRCm39) |
T82A |
possibly damaging |
Het |
| Sema7a |
G |
A |
9: 57,867,959 (GRCm39) |
D512N |
probably benign |
Het |
| Sgpl1 |
C |
T |
10: 60,941,230 (GRCm39) |
V294M |
possibly damaging |
Het |
| Slc22a28 |
A |
G |
19: 8,040,674 (GRCm39) |
S526P |
probably damaging |
Het |
| Spata31e2 |
T |
A |
1: 26,724,650 (GRCm39) |
R177W |
probably damaging |
Het |
| Tent2 |
G |
A |
13: 93,312,073 (GRCm39) |
A209V |
probably benign |
Het |
| Trim30b |
T |
G |
7: 104,015,019 (GRCm39) |
Q123P |
possibly damaging |
Het |
| Trpm5 |
A |
G |
7: 142,638,946 (GRCm39) |
L275P |
probably benign |
Het |
| Ttc33 |
A |
G |
15: 5,219,275 (GRCm39) |
E71G |
probably damaging |
Het |
| Unc13d |
T |
C |
11: 115,964,481 (GRCm39) |
T288A |
possibly damaging |
Het |
| Unc93a |
T |
A |
17: 13,328,521 (GRCm39) |
E444V |
probably benign |
Het |
| Usf3 |
T |
A |
16: 44,038,535 (GRCm39) |
M1005K |
probably benign |
Het |
| Vmn2r91 |
T |
C |
17: 18,326,405 (GRCm39) |
I230T |
probably benign |
Het |
| Wdr49 |
G |
A |
3: 75,304,177 (GRCm39) |
Q448* |
probably null |
Het |
| Zfp939 |
T |
A |
7: 39,122,695 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Osbpl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Osbpl3
|
APN |
6 |
50,300,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01784:Osbpl3
|
APN |
6 |
50,321,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02221:Osbpl3
|
APN |
6 |
50,304,347 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02323:Osbpl3
|
APN |
6 |
50,323,306 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02894:Osbpl3
|
APN |
6 |
50,323,312 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
H8562:Osbpl3
|
UTSW |
6 |
50,324,446 (GRCm39) |
missense |
probably benign |
0.09 |
|
PIT4283001:Osbpl3
|
UTSW |
6 |
50,323,068 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0226:Osbpl3
|
UTSW |
6 |
50,329,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0416:Osbpl3
|
UTSW |
6 |
50,324,998 (GRCm39) |
missense |
probably benign |
|
|
R0417:Osbpl3
|
UTSW |
6 |
50,324,998 (GRCm39) |
missense |
probably benign |
|
|
R0601:Osbpl3
|
UTSW |
6 |
50,276,383 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0826:Osbpl3
|
UTSW |
6 |
50,323,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1390:Osbpl3
|
UTSW |
6 |
50,285,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1520:Osbpl3
|
UTSW |
6 |
50,323,411 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1678:Osbpl3
|
UTSW |
6 |
50,313,193 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1843:Osbpl3
|
UTSW |
6 |
50,347,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1943:Osbpl3
|
UTSW |
6 |
50,297,054 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3435:Osbpl3
|
UTSW |
6 |
50,325,050 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3768:Osbpl3
|
UTSW |
6 |
50,324,982 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4746:Osbpl3
|
UTSW |
6 |
50,305,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4751:Osbpl3
|
UTSW |
6 |
50,277,977 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4776:Osbpl3
|
UTSW |
6 |
50,277,953 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4814:Osbpl3
|
UTSW |
6 |
50,329,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4841:Osbpl3
|
UTSW |
6 |
50,286,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4881:Osbpl3
|
UTSW |
6 |
50,329,764 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4999:Osbpl3
|
UTSW |
6 |
50,313,277 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5512:Osbpl3
|
UTSW |
6 |
50,286,340 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6282:Osbpl3
|
UTSW |
6 |
50,325,063 (GRCm39) |
splice site |
probably null |
|
|
R6304:Osbpl3
|
UTSW |
6 |
50,289,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6905:Osbpl3
|
UTSW |
6 |
50,328,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7000:Osbpl3
|
UTSW |
6 |
50,274,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7102:Osbpl3
|
UTSW |
6 |
50,297,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7275:Osbpl3
|
UTSW |
6 |
50,323,410 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7334:Osbpl3
|
UTSW |
6 |
50,321,886 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7368:Osbpl3
|
UTSW |
6 |
50,325,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8052:Osbpl3
|
UTSW |
6 |
50,322,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8183:Osbpl3
|
UTSW |
6 |
50,280,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8810:Osbpl3
|
UTSW |
6 |
50,328,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8932:Osbpl3
|
UTSW |
6 |
50,304,371 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9168:Osbpl3
|
UTSW |
6 |
50,329,762 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9447:Osbpl3
|
UTSW |
6 |
50,321,857 (GRCm39) |
nonsense |
probably null |
|
|
R9476:Osbpl3
|
UTSW |
6 |
50,313,194 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9510:Osbpl3
|
UTSW |
6 |
50,313,194 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9788:Osbpl3
|
UTSW |
6 |
50,324,344 (GRCm39) |
critical splice donor site |
probably null |
|
|
RF011:Osbpl3
|
UTSW |
6 |
50,325,118 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
Z1088:Osbpl3
|
UTSW |
6 |
50,274,077 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAAGGCAGTTTTAGATGCGGTG -3'
(R):5'- TCCCAGAGTCAATCAGGCTTCCTTC -3'
Sequencing Primer
(F):5'- ACTGCATATTTTCTGAGAGATGGC -3'
(R):5'- AATCAGGCTTCCTTCCTTTCAGG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation