Incidental Mutation 'R1943:Osbpl3'
| ID |
216368 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl3
|
| Ensembl Gene |
ENSMUSG00000029822 |
| Gene Name |
oxysterol binding protein-like 3 |
| Synonyms |
ORP3, 1200014M06Rik, 6720421I08Rik, OSBP3 |
| MMRRC Submission |
039961-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1943 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
50270310-50433181 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 50297054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 548
(I548T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071728]
[ENSMUST00000090019]
[ENSMUST00000114466]
[ENSMUST00000114468]
|
| AlphaFold |
Q9DBS9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071728
AA Change: I548T
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000071643
Gene: ENSMUSG00000029822
AA Change: I548T
| 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 benign
Transcript: ENSMUST00000090019
AA Change: I615T
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000087473
Gene: ENSMUSG00000029822
AA Change: I615T
| 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 |
probably benign
Transcript: ENSMUST00000114466
AA Change: I579T
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000110110
Gene: ENSMUSG00000029822
AA Change: I579T
| 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 benign
Transcript: ENSMUST00000114468
AA Change: I584T
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000110112
Gene: ENSMUSG00000029822
AA Change: I584T
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| 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. 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,645,506 (GRCm39) |
N1017S |
possibly damaging |
Het |
| Abca8a |
T |
C |
11: 109,960,689 (GRCm39) |
I610V |
probably benign |
Het |
| Acp5 |
C |
T |
9: 22,040,900 (GRCm39) |
V108M |
probably damaging |
Het |
| Adam23 |
T |
C |
1: 63,516,916 (GRCm39) |
|
probably null |
Het |
| Adam34 |
T |
A |
8: 44,103,864 (GRCm39) |
T594S |
possibly damaging |
Het |
| Adam34 |
A |
T |
8: 44,104,852 (GRCm39) |
N264K |
probably damaging |
Het |
| Arsa |
G |
A |
15: 89,357,742 (GRCm39) |
T407I |
probably damaging |
Het |
| Bicc1 |
A |
G |
10: 70,995,353 (GRCm39) |
S32P |
probably damaging |
Het |
| Cacna1i |
T |
A |
15: 80,279,245 (GRCm39) |
D1995E |
probably benign |
Het |
| Cemip2 |
G |
A |
19: 21,825,404 (GRCm39) |
|
probably null |
Het |
| Chst15 |
A |
T |
7: 131,864,579 (GRCm39) |
|
probably null |
Het |
| Cntnap4 |
T |
A |
8: 113,542,128 (GRCm39) |
F754I |
probably benign |
Het |
| Cpz |
C |
T |
5: 35,669,772 (GRCm39) |
E302K |
probably damaging |
Het |
| Daw1 |
A |
T |
1: 83,186,987 (GRCm39) |
I371F |
possibly damaging |
Het |
| Dennd1b |
C |
A |
1: 139,096,690 (GRCm39) |
|
probably benign |
Het |
| Dhtkd1 |
T |
G |
2: 5,937,293 (GRCm39) |
Q73P |
probably benign |
Het |
| Dmgdh |
T |
C |
13: 93,847,878 (GRCm39) |
I525T |
probably benign |
Het |
| Dst |
C |
A |
1: 34,267,450 (GRCm39) |
T4964K |
possibly damaging |
Het |
| Ercc3 |
A |
G |
18: 32,379,663 (GRCm39) |
Y290C |
probably damaging |
Het |
| Fh1 |
C |
T |
1: 175,437,344 (GRCm39) |
V252I |
probably benign |
Het |
| Gm13199 |
C |
T |
2: 5,867,517 (GRCm39) |
|
probably benign |
Het |
| Il1rn |
T |
C |
2: 24,238,611 (GRCm39) |
S82P |
possibly damaging |
Het |
| Lama4 |
T |
C |
10: 38,973,134 (GRCm39) |
V1567A |
possibly damaging |
Het |
| Lamtor4 |
A |
G |
5: 138,254,054 (GRCm39) |
|
probably null |
Het |
| Llgl1 |
A |
G |
11: 60,596,842 (GRCm39) |
N148D |
probably benign |
Het |
| Lmo7 |
G |
T |
14: 102,139,738 (GRCm39) |
G774V |
probably damaging |
Het |
| Luzp2 |
A |
T |
7: 54,914,050 (GRCm39) |
K293M |
possibly damaging |
Het |
| Mknk1 |
T |
C |
4: 115,720,223 (GRCm39) |
V83A |
probably damaging |
Het |
| Mug2 |
T |
C |
6: 122,056,598 (GRCm39) |
V1181A |
probably benign |
Het |
| Myo16 |
G |
A |
8: 10,644,905 (GRCm39) |
D1746N |
possibly damaging |
Het |
| Or1ad8 |
A |
G |
11: 50,898,502 (GRCm39) |
I234M |
probably benign |
Het |
| Or2aj4 |
A |
T |
16: 19,385,187 (GRCm39) |
W149R |
probably benign |
Het |
| Parp14 |
A |
G |
16: 35,656,499 (GRCm39) |
Y1676H |
probably damaging |
Het |
| Phtf1 |
A |
T |
3: 103,901,198 (GRCm39) |
K416* |
probably null |
Het |
| Pmp2 |
T |
C |
3: 10,247,570 (GRCm39) |
T40A |
probably benign |
Het |
| Ptpra |
T |
C |
2: 130,386,024 (GRCm39) |
M541T |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,548,089 (GRCm39) |
I753V |
possibly damaging |
Het |
| Rdh14 |
T |
C |
12: 10,441,162 (GRCm39) |
V108A |
probably benign |
Het |
| Rnf38 |
A |
T |
4: 44,138,748 (GRCm39) |
H248Q |
probably damaging |
Het |
| Rsph6a |
A |
C |
7: 18,808,001 (GRCm39) |
Y388S |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,746,609 (GRCm39) |
D1981G |
probably benign |
Het |
| Sf3a3 |
A |
G |
4: 124,609,694 (GRCm39) |
K97E |
possibly damaging |
Het |
| Shisa9 |
A |
G |
16: 12,085,620 (GRCm39) |
T394A |
probably benign |
Het |
| Slc43a2 |
T |
A |
11: 75,436,567 (GRCm39) |
|
probably null |
Het |
| Slc45a1 |
A |
G |
4: 150,728,734 (GRCm39) |
F23S |
probably benign |
Het |
| Slc7a10 |
T |
A |
7: 34,899,723 (GRCm39) |
V435E |
probably benign |
Het |
| Snx15 |
A |
G |
19: 6,178,096 (GRCm39) |
Y28H |
probably damaging |
Het |
| Spef2 |
T |
G |
15: 9,663,280 (GRCm39) |
K834Q |
possibly damaging |
Het |
| Tdpoz2 |
G |
T |
3: 93,559,230 (GRCm39) |
Y247* |
probably null |
Het |
| Tedc2 |
G |
A |
17: 24,436,923 (GRCm39) |
R271W |
possibly damaging |
Het |
| Tfr2 |
C |
A |
5: 137,577,183 (GRCm39) |
H378Q |
probably benign |
Het |
| Tigit |
T |
A |
16: 43,469,581 (GRCm39) |
H170L |
probably benign |
Het |
| Tmem62 |
A |
T |
2: 120,817,107 (GRCm39) |
Q91L |
probably benign |
Het |
| Tmtc1 |
G |
T |
6: 148,327,416 (GRCm39) |
C32* |
probably null |
Het |
| Txndc12 |
G |
A |
4: 108,713,407 (GRCm39) |
V90I |
probably benign |
Het |
| Vmn2r93 |
C |
A |
17: 18,546,063 (GRCm39) |
T645K |
probably benign |
Het |
| Vmn2r96 |
C |
T |
17: 18,806,664 (GRCm39) |
T345I |
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,882,427 (GRCm39) |
D1055E |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,342,959 (GRCm39) |
I1733M |
probably benign |
Het |
| Zfp512b |
T |
C |
2: 181,230,208 (GRCm39) |
H516R |
probably damaging |
Het |
| Zfp606 |
T |
C |
7: 12,227,615 (GRCm39) |
S521P |
probably damaging |
Het |
| Zfp715 |
A |
T |
7: 42,949,054 (GRCm39) |
V302E |
possibly damaging |
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 |
|
R1603:Osbpl3
|
UTSW |
6 |
50,300,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CTGGATTTATGTTGCCAAGCC -3'
(R):5'- CACCTAAGTTGCTTGAGTTGTC -3'
Sequencing Primer
(F):5'- GTTGCCAAGCCTGTAATTATCTCAG -3'
(R):5'- CCTTGTCTTTCTGAAATAGAGGC -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation