Incidental Mutation 'R0417:Osbpl3'
ID |
40395 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Osbpl3
|
Ensembl Gene |
ENSMUSG00000029822 |
Gene Name |
oxysterol binding protein-like 3 |
Synonyms |
ORP3, 1200014M06Rik, 6720421I08Rik, OSBP3 |
MMRRC Submission |
038619-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0417 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
50270310-50433181 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 50324998 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 167
(V167I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110112
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071728]
[ENSMUST00000090019]
[ENSMUST00000114466]
[ENSMUST00000114468]
[ENSMUST00000136926]
[ENSMUST00000146341]
[ENSMUST00000203907]
|
AlphaFold |
Q9DBS9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071728
AA Change: V167I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000071643 Gene: ENSMUSG00000029822 AA Change: V167I
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: V167I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000087473 Gene: ENSMUSG00000029822 AA Change: V167I
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: V167I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110110 Gene: ENSMUSG00000029822 AA Change: V167I
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: V167I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110112 Gene: ENSMUSG00000029822 AA Change: V167I
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: ENSMUST00000136926
|
SMART Domains |
Protein: ENSMUSP00000144934 Gene: ENSMUSG00000029822
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
33 |
N/A |
INTRINSIC |
SCOP:d1btka_
|
50 |
75 |
5e-4 |
SMART |
Blast:PH
|
51 |
76 |
1e-11 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146341
|
SMART Domains |
Protein: ENSMUSP00000114472 Gene: ENSMUSG00000029822
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
33 |
N/A |
INTRINSIC |
PH
|
51 |
144 |
1.27e-6 |
SMART |
|
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
A |
G |
8: 73,199,244 (GRCm39) |
K217R |
probably damaging |
Het |
1810024B03Rik |
A |
G |
2: 127,028,864 (GRCm39) |
Y112H |
probably damaging |
Het |
Acot2 |
T |
C |
12: 84,037,387 (GRCm39) |
Y234H |
probably benign |
Het |
Alox12e |
C |
T |
11: 70,212,691 (GRCm39) |
V53I |
probably benign |
Het |
Ankrd50 |
T |
C |
3: 38,510,510 (GRCm39) |
H619R |
probably damaging |
Het |
Arfgef3 |
A |
T |
10: 18,479,259 (GRCm39) |
L1452Q |
probably damaging |
Het |
Arhgap42 |
T |
C |
9: 9,180,034 (GRCm39) |
S82G |
possibly damaging |
Het |
Arhgef18 |
T |
C |
8: 3,438,957 (GRCm39) |
|
probably benign |
Het |
Bicra |
C |
A |
7: 15,706,247 (GRCm39) |
R1398L |
probably damaging |
Het |
Boc |
T |
C |
16: 44,340,597 (GRCm39) |
T118A |
probably benign |
Het |
Btnl9 |
A |
G |
11: 49,066,422 (GRCm39) |
Y381H |
probably damaging |
Het |
Cbln3 |
T |
G |
14: 56,121,586 (GRCm39) |
E20A |
probably benign |
Het |
Cdc42ep5 |
A |
G |
7: 4,154,482 (GRCm39) |
L102P |
probably damaging |
Het |
Csrnp3 |
A |
G |
2: 65,849,887 (GRCm39) |
Y171C |
probably benign |
Het |
Cyp2d9 |
A |
T |
15: 82,340,152 (GRCm39) |
I181F |
probably damaging |
Het |
Cyp7b1 |
T |
A |
3: 18,150,855 (GRCm39) |
T295S |
probably damaging |
Het |
Dbn1 |
C |
T |
13: 55,622,729 (GRCm39) |
E585K |
probably damaging |
Het |
Dok1 |
A |
T |
6: 83,008,550 (GRCm39) |
D377E |
probably damaging |
Het |
Eed |
A |
T |
7: 89,620,760 (GRCm39) |
Y87* |
probably null |
Het |
Entpd3 |
T |
C |
9: 120,386,487 (GRCm39) |
V156A |
probably damaging |
Het |
Exo5 |
T |
A |
4: 120,779,269 (GRCm39) |
T199S |
probably damaging |
Het |
Extl2 |
T |
C |
3: 115,818,006 (GRCm39) |
I106T |
probably benign |
Het |
Ezh2 |
A |
G |
6: 47,528,660 (GRCm39) |
C291R |
probably benign |
Het |
Flvcr1 |
A |
T |
1: 190,743,416 (GRCm39) |
M466K |
probably benign |
Het |
Fras1 |
G |
T |
5: 96,839,231 (GRCm39) |
M1583I |
probably benign |
Het |
Fzd9 |
G |
T |
5: 135,278,473 (GRCm39) |
R471S |
probably damaging |
Het |
Galr1 |
A |
T |
18: 82,423,665 (GRCm39) |
F204Y |
probably damaging |
Het |
Gna11 |
A |
T |
10: 81,366,738 (GRCm39) |
I324N |
probably damaging |
Het |
Gucy1a2 |
A |
G |
9: 3,759,484 (GRCm39) |
E430G |
possibly damaging |
Het |
Hhatl |
C |
T |
9: 121,617,828 (GRCm39) |
A254T |
probably benign |
Het |
Ikzf1 |
A |
C |
11: 11,719,352 (GRCm39) |
N353T |
probably benign |
Het |
Il7 |
T |
A |
3: 7,641,087 (GRCm39) |
T110S |
probably damaging |
Het |
Keg1 |
A |
G |
19: 12,688,424 (GRCm39) |
N53D |
probably damaging |
Het |
Klhl21 |
T |
C |
4: 152,099,964 (GRCm39) |
I558T |
probably damaging |
Het |
Lca5l |
G |
A |
16: 95,963,853 (GRCm39) |
T357M |
probably damaging |
Het |
Lrba |
T |
C |
3: 86,622,961 (GRCm39) |
S2448P |
probably damaging |
Het |
Map3k6 |
T |
A |
4: 132,975,393 (GRCm39) |
Y709* |
probably null |
Het |
Megf6 |
A |
G |
4: 154,352,424 (GRCm39) |
E1261G |
probably benign |
Het |
Mettl3 |
C |
T |
14: 52,534,155 (GRCm39) |
G473D |
probably damaging |
Het |
Mga |
A |
G |
2: 119,733,271 (GRCm39) |
I40V |
probably damaging |
Het |
Mmp13 |
T |
A |
9: 7,276,602 (GRCm39) |
D232E |
probably benign |
Het |
Nampt |
T |
C |
12: 32,883,100 (GRCm39) |
V95A |
probably benign |
Het |
Nbeal1 |
T |
C |
1: 60,286,893 (GRCm39) |
V905A |
probably benign |
Het |
Nomo1 |
A |
T |
7: 45,718,122 (GRCm39) |
E840V |
possibly damaging |
Het |
Nprl2 |
A |
T |
9: 107,420,497 (GRCm39) |
I101F |
probably damaging |
Het |
Nup160 |
A |
T |
2: 90,565,771 (GRCm39) |
I1378F |
possibly damaging |
Het |
Ogdhl |
T |
C |
14: 32,048,936 (GRCm39) |
S69P |
probably damaging |
Het |
Or2y17 |
T |
A |
11: 49,231,500 (GRCm39) |
I47N |
possibly damaging |
Het |
Or4a68 |
C |
A |
2: 89,270,519 (GRCm39) |
V35L |
possibly damaging |
Het |
Or4k77 |
A |
G |
2: 111,199,450 (GRCm39) |
S158G |
possibly damaging |
Het |
Or5be3 |
A |
T |
2: 86,863,789 (GRCm39) |
Y259N |
probably damaging |
Het |
Or8b12i |
G |
A |
9: 20,082,510 (GRCm39) |
A119V |
probably damaging |
Het |
Or8c16 |
A |
G |
9: 38,130,751 (GRCm39) |
I211V |
probably benign |
Het |
Or8c8 |
T |
C |
9: 38,165,160 (GRCm39) |
F149S |
probably benign |
Het |
Pclo |
T |
A |
5: 14,763,036 (GRCm39) |
H3836Q |
unknown |
Het |
Prkcg |
A |
T |
7: 3,352,820 (GRCm39) |
|
probably null |
Het |
Ror1 |
A |
T |
4: 100,269,197 (GRCm39) |
H345L |
possibly damaging |
Het |
Slc36a2 |
C |
T |
11: 55,072,370 (GRCm39) |
|
probably null |
Het |
Slc40a1 |
G |
A |
1: 45,950,534 (GRCm39) |
P306L |
possibly damaging |
Het |
Slc9a8 |
C |
A |
2: 167,299,264 (GRCm39) |
T239K |
probably benign |
Het |
Snapc3 |
A |
G |
4: 83,368,399 (GRCm39) |
I299V |
probably benign |
Het |
Sp3 |
G |
A |
2: 72,801,845 (GRCm39) |
A56V |
possibly damaging |
Het |
Spag17 |
T |
A |
3: 99,972,870 (GRCm39) |
S1361T |
probably benign |
Het |
Sptbn2 |
A |
G |
19: 4,787,954 (GRCm39) |
T978A |
probably benign |
Het |
Stom |
C |
A |
2: 35,211,644 (GRCm39) |
V126F |
probably damaging |
Het |
Stpg2 |
A |
G |
3: 138,924,082 (GRCm39) |
T162A |
probably damaging |
Het |
Stxbp6 |
G |
A |
12: 44,949,740 (GRCm39) |
T63M |
probably damaging |
Het |
Tatdn1 |
A |
C |
15: 58,793,199 (GRCm39) |
I69S |
probably benign |
Het |
Tbata |
A |
T |
10: 61,016,118 (GRCm39) |
D198V |
probably damaging |
Het |
Tbc1d5 |
T |
C |
17: 51,063,733 (GRCm39) |
I638V |
probably benign |
Het |
Tomm70a |
A |
G |
16: 56,970,266 (GRCm39) |
D548G |
probably benign |
Het |
Ust |
A |
G |
10: 8,121,700 (GRCm39) |
F303L |
probably damaging |
Het |
Vps13d |
A |
G |
4: 144,703,130 (GRCm39) |
S4306P |
probably benign |
Het |
Zbed6 |
A |
T |
1: 133,586,276 (GRCm39) |
S354T |
probably benign |
Het |
Zfp691 |
A |
G |
4: 119,027,693 (GRCm39) |
S180P |
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 |
|
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 |
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'- TGTACGCAGGCTTAGCTGCATC -3'
(R):5'- TCTTTGAGTGTCCTCCGAGACCAC -3'
Sequencing Primer
(F):5'- TTAGCTGCATCCGACAGG -3'
(R):5'- ATGAATAACTGATCCCGTCTTAGCC -3'
|
Posted On |
2013-05-23 |