Incidental Mutation 'R7334:Osbpl3'
| ID |
569360 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl3
|
| Ensembl Gene |
ENSMUSG00000029822 |
| Gene Name |
oxysterol binding protein-like 3 |
| Synonyms |
ORP3, 1200014M06Rik, 6720421I08Rik, OSBP3 |
| MMRRC Submission |
045371-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7334 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
50270310-50433181 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 50321886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 300
(M300T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071728]
[ENSMUST00000090019]
[ENSMUST00000114466]
[ENSMUST00000114468]
[ENSMUST00000146341]
[ENSMUST00000203907]
|
| AlphaFold |
Q9DBS9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071728
AA Change: M300T
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000071643
Gene: ENSMUSG00000029822
AA Change: M300T
| 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 |
possibly damaging
Transcript: ENSMUST00000090019
AA Change: M331T
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000087473
Gene: ENSMUSG00000029822
AA Change: M331T
| 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: M331T
PolyPhen 2
Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000110110
Gene: ENSMUSG00000029822
AA Change: M331T
| 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 |
possibly damaging
Transcript: ENSMUST00000114468
AA Change: M300T
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110112
Gene: ENSMUSG00000029822
AA Change: M300T
| 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 |
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 |
possibly damaging
Transcript: ENSMUST00000203907
AA Change: M80T
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000145249
Gene: ENSMUSG00000029822
AA Change: M80T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
91 |
1e-57 |
BLAST |
|
low complexity region
|
208 |
241 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (75/76) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
A |
3: 59,776,380 (GRCm39) |
C184S |
probably damaging |
Het |
| Acadm |
G |
T |
3: 153,644,698 (GRCm39) |
S9* |
probably null |
Het |
| Acot10 |
C |
T |
15: 20,665,629 (GRCm39) |
V371I |
possibly damaging |
Het |
| Adam8 |
T |
C |
7: 139,568,903 (GRCm39) |
E199G |
probably damaging |
Het |
| Aldh18a1 |
A |
T |
19: 40,539,696 (GRCm39) |
W762R |
probably damaging |
Het |
| Aldh1a1 |
T |
A |
19: 20,599,075 (GRCm39) |
V162E |
probably damaging |
Het |
| Alms1 |
A |
G |
6: 85,618,432 (GRCm39) |
D2357G |
probably damaging |
Het |
| Arfgef1 |
G |
T |
1: 10,254,685 (GRCm39) |
Q718K |
probably damaging |
Het |
| Arid5b |
A |
C |
10: 68,079,007 (GRCm39) |
V110G |
possibly damaging |
Het |
| Bpifb3 |
T |
A |
2: 153,761,654 (GRCm39) |
D34E |
probably damaging |
Het |
| Cacfd1 |
C |
T |
2: 26,905,558 (GRCm39) |
A85V |
possibly damaging |
Het |
| Cep57l1 |
C |
A |
10: 41,597,596 (GRCm39) |
S345I |
probably benign |
Het |
| Cibar2 |
T |
C |
8: 120,901,589 (GRCm39) |
T39A |
probably damaging |
Het |
| Clca3b |
G |
A |
3: 144,542,417 (GRCm39) |
R462* |
probably null |
Het |
| Cyp26c1 |
G |
A |
19: 37,677,323 (GRCm39) |
V251I |
probably benign |
Het |
| Dip2a |
A |
G |
10: 76,110,080 (GRCm39) |
S1179P |
possibly damaging |
Het |
| Dnal1 |
T |
C |
12: 84,173,780 (GRCm39) |
L27P |
probably damaging |
Het |
| Dock7 |
A |
G |
4: 98,864,180 (GRCm39) |
V1288A |
unknown |
Het |
| Elmod1 |
A |
T |
9: 53,841,508 (GRCm39) |
|
probably null |
Het |
| Epb41l5 |
T |
G |
1: 119,551,679 (GRCm39) |
K102T |
probably damaging |
Het |
| Fermt3 |
T |
C |
19: 6,980,406 (GRCm39) |
I358V |
probably benign |
Het |
| Frmd3 |
A |
G |
4: 74,079,955 (GRCm39) |
I316V |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,204,839 (GRCm39) |
|
probably null |
Het |
| Gm4131 |
T |
A |
14: 62,702,356 (GRCm39) |
H204L |
possibly damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,325,806 (GRCm39) |
G4278R |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,343,147 (GRCm39) |
S4558G |
possibly damaging |
Het |
| Igkv1-132 |
A |
G |
6: 67,737,108 (GRCm39) |
T25A |
probably benign |
Het |
| Kcp |
T |
C |
6: 29,485,511 (GRCm39) |
E1161G |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,293,235 (GRCm39) |
I5371K |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 16,011,529 (GRCm39) |
C1670S |
probably damaging |
Het |
| Mfsd13a |
T |
A |
19: 46,356,809 (GRCm39) |
V270E |
probably damaging |
Het |
| Mroh1 |
A |
G |
15: 76,311,838 (GRCm39) |
I524V |
probably benign |
Het |
| Mta1 |
T |
C |
12: 113,090,418 (GRCm39) |
S175P |
possibly damaging |
Het |
| Myo7a |
C |
T |
7: 97,728,573 (GRCm39) |
R800H |
probably benign |
Het |
| Ncald |
T |
A |
15: 37,397,524 (GRCm39) |
Y52F |
probably damaging |
Het |
| Nherf1 |
C |
T |
11: 115,054,593 (GRCm39) |
A81V |
possibly damaging |
Het |
| Nomo1 |
T |
C |
7: 45,732,692 (GRCm39) |
S1152P |
probably damaging |
Het |
| Nr3c1 |
A |
G |
18: 39,620,090 (GRCm39) |
F66L |
probably benign |
Het |
| Nrf1 |
T |
C |
6: 30,118,970 (GRCm39) |
L363S |
probably benign |
Het |
| Or4n4 |
C |
A |
14: 50,519,036 (GRCm39) |
V225F |
probably benign |
Het |
| Or8b12b |
A |
T |
9: 37,684,293 (GRCm39) |
I113F |
probably damaging |
Het |
| Parpbp |
T |
A |
10: 87,947,617 (GRCm39) |
N339I |
probably damaging |
Het |
| Pdlim5 |
A |
T |
3: 141,950,678 (GRCm39) |
H578Q |
probably damaging |
Het |
| Pear1 |
T |
C |
3: 87,657,532 (GRCm39) |
N1009S |
probably damaging |
Het |
| Pnpla8 |
A |
G |
12: 44,358,286 (GRCm39) |
I745M |
probably damaging |
Het |
| Pom121l12 |
C |
A |
11: 14,549,681 (GRCm39) |
T129K |
probably damaging |
Het |
| Ppp1r14a |
T |
C |
7: 28,992,687 (GRCm39) |
S130P |
probably damaging |
Het |
| Prss12 |
A |
C |
3: 123,280,780 (GRCm39) |
L488F |
probably benign |
Het |
| Psd3 |
C |
T |
8: 68,361,357 (GRCm39) |
V559I |
possibly damaging |
Het |
| Rrh |
T |
C |
3: 129,602,631 (GRCm39) |
T364A |
probably benign |
Het |
| Shcbp1 |
A |
T |
8: 4,791,876 (GRCm39) |
M479K |
probably damaging |
Het |
| Shcbp1 |
A |
C |
8: 4,804,310 (GRCm39) |
F200C |
probably damaging |
Het |
| Slx1b |
G |
T |
7: 126,291,699 (GRCm39) |
R122S |
probably damaging |
Het |
| Spata31f1e |
G |
A |
4: 42,793,856 (GRCm39) |
T92I |
possibly damaging |
Het |
| Spidr |
A |
G |
16: 15,932,689 (GRCm39) |
|
probably null |
Het |
| St18 |
G |
A |
1: 6,872,783 (GRCm39) |
D173N |
probably benign |
Het |
| Stambpl1 |
T |
C |
19: 34,204,048 (GRCm39) |
I46T |
probably damaging |
Het |
| Syne1 |
C |
T |
10: 5,007,886 (GRCm39) |
D113N |
probably damaging |
Het |
| Tg |
G |
A |
15: 66,597,121 (GRCm39) |
V1741I |
probably benign |
Het |
| Thsd7b |
T |
A |
1: 130,123,012 (GRCm39) |
W1544R |
probably benign |
Het |
| Tiam2 |
G |
A |
17: 3,553,283 (GRCm39) |
R1120H |
possibly damaging |
Het |
| Tinag |
A |
T |
9: 76,908,931 (GRCm39) |
C337S |
probably damaging |
Het |
| Tm4sf1 |
G |
C |
3: 57,200,510 (GRCm39) |
A64G |
probably damaging |
Het |
| Tmprss6 |
A |
G |
15: 78,328,017 (GRCm39) |
Y572H |
unknown |
Het |
| Tnfrsf11a |
G |
A |
1: 105,754,854 (GRCm39) |
A309T |
possibly damaging |
Het |
| Txndc11 |
A |
G |
16: 10,946,425 (GRCm39) |
Y129H |
probably damaging |
Het |
| Ube3b |
T |
C |
5: 114,553,742 (GRCm39) |
F974S |
possibly damaging |
Het |
| Utrn |
C |
A |
10: 12,603,753 (GRCm39) |
|
probably null |
Het |
| Vmn1r58 |
T |
A |
7: 5,414,066 (GRCm39) |
M55L |
probably benign |
Het |
| Vnn1 |
T |
A |
10: 23,776,658 (GRCm39) |
S336R |
probably benign |
Het |
| Wwc2 |
T |
C |
8: 48,322,829 (GRCm39) |
Y424C |
unknown |
Het |
| Zfp507 |
T |
C |
7: 35,475,505 (GRCm39) |
I903V |
probably damaging |
Het |
| Zfp551 |
C |
T |
7: 12,150,681 (GRCm39) |
G243R |
probably damaging |
Het |
| Zfp60 |
T |
A |
7: 27,448,444 (GRCm39) |
C371S |
probably 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 |
|
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 |
|
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'- ATCTTCTGCTGGCTGAACCC -3'
(R):5'- CAGGGAGGCTCTAGTTTCATAG -3'
Sequencing Primer
(F):5'- ACTGCTTGCACTTTGGAATACG -3'
(R):5'- GGGAGGCTCTAGTTTCATAGAAATC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation