Incidental Mutation 'R8052:Osbpl3'
| ID |
619104 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl3
|
| Ensembl Gene |
ENSMUSG00000029822 |
| Gene Name |
oxysterol binding protein-like 3 |
| Synonyms |
ORP3, 1200014M06Rik, 6720421I08Rik, OSBP3 |
| MMRRC Submission |
067489-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8052 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
50270310-50433181 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 50322995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 288
(L288R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071728]
[ENSMUST00000090019]
[ENSMUST00000114466]
[ENSMUST00000114468]
[ENSMUST00000146341]
[ENSMUST00000203907]
|
| AlphaFold |
Q9DBS9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071728
|
| SMART Domains |
Protein: ENSMUSP00000071643
Gene: ENSMUSG00000029822
| 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: L288R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000087473
Gene: ENSMUSG00000029822
AA Change: L288R
| 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 damaging
Transcript: ENSMUST00000114466
AA Change: L288R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110110
Gene: ENSMUSG00000029822
AA Change: L288R
| 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
|
| SMART Domains |
Protein: ENSMUSP00000110112
Gene: ENSMUSG00000029822
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi1 |
T |
C |
2: 22,843,555 (GRCm39) |
T297A |
probably benign |
Het |
| Acadl |
G |
T |
1: 66,892,337 (GRCm39) |
T162K |
probably benign |
Het |
| Aldoart2 |
A |
T |
12: 55,612,536 (GRCm39) |
I154F |
probably damaging |
Het |
| Alkbh8 |
G |
A |
9: 3,385,478 (GRCm39) |
R625H |
probably damaging |
Het |
| Ankrd31 |
T |
A |
13: 96,969,036 (GRCm39) |
V891E |
probably benign |
Het |
| Aopep |
G |
A |
13: 63,216,065 (GRCm39) |
V446I |
probably damaging |
Het |
| Atp8b5 |
C |
T |
4: 43,356,982 (GRCm39) |
R577* |
probably null |
Het |
| Capn3 |
G |
T |
2: 120,316,867 (GRCm39) |
E285D |
probably benign |
Het |
| Cd79b |
G |
T |
11: 106,204,526 (GRCm39) |
P87T |
probably damaging |
Het |
| Celsr2 |
T |
G |
3: 108,319,971 (GRCm39) |
D947A |
probably damaging |
Het |
| Csmd3 |
A |
C |
15: 47,569,783 (GRCm39) |
S1213R |
|
Het |
| Cyp2j5 |
T |
C |
4: 96,552,241 (GRCm39) |
M3V |
probably benign |
Het |
| Ddi1 |
C |
T |
9: 6,265,787 (GRCm39) |
R194K |
probably benign |
Het |
| Decr1 |
T |
C |
4: 15,933,019 (GRCm39) |
K49R |
probably benign |
Het |
| Dnah10 |
A |
C |
5: 124,905,575 (GRCm39) |
E4130A |
probably benign |
Het |
| Dst |
A |
G |
1: 34,323,444 (GRCm39) |
D4648G |
probably damaging |
Het |
| Ecd |
A |
G |
14: 20,380,020 (GRCm39) |
|
probably null |
Het |
| Erbin |
A |
T |
13: 103,970,864 (GRCm39) |
Y917* |
probably null |
Het |
| Evpl |
T |
C |
11: 116,113,989 (GRCm39) |
K1234E |
probably benign |
Het |
| F11r |
T |
A |
1: 171,289,191 (GRCm39) |
Y218N |
possibly damaging |
Het |
| Fam43a |
C |
G |
16: 30,420,622 (GRCm39) |
T402S |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,457,064 (GRCm39) |
N2096S |
probably benign |
Het |
| Gpd2 |
T |
A |
2: 57,196,962 (GRCm39) |
Y172* |
probably null |
Het |
| Hscb |
A |
G |
5: 110,983,844 (GRCm39) |
V90A |
probably benign |
Het |
| Iqgap2 |
T |
C |
13: 95,794,387 (GRCm39) |
D1195G |
probably damaging |
Het |
| Map2k2 |
T |
C |
10: 80,950,900 (GRCm39) |
I115T |
probably damaging |
Het |
| Mast2 |
C |
T |
4: 116,170,172 (GRCm39) |
R707H |
probably damaging |
Het |
| Mindy4 |
A |
G |
6: 55,277,977 (GRCm39) |
N607S |
probably damaging |
Het |
| Mrpl9 |
T |
A |
3: 94,351,050 (GRCm39) |
Y77N |
probably damaging |
Het |
| Muc16 |
G |
A |
9: 18,570,347 (GRCm39) |
T724I |
unknown |
Het |
| Nat3 |
A |
T |
8: 68,000,478 (GRCm39) |
Y119F |
possibly damaging |
Het |
| Nol7 |
T |
C |
13: 43,554,990 (GRCm39) |
S208P |
probably damaging |
Het |
| Notch3 |
A |
T |
17: 32,365,545 (GRCm39) |
C1056S |
probably damaging |
Het |
| Nup50l |
TCC |
TCCGCC |
6: 96,142,078 (GRCm39) |
|
probably benign |
Het |
| Nup50l |
TCC |
TCCCCC |
6: 96,142,084 (GRCm39) |
|
probably benign |
Het |
| Or13j1 |
A |
T |
4: 43,705,884 (GRCm39) |
V228E |
probably damaging |
Het |
| Or3a4 |
T |
A |
11: 73,945,301 (GRCm39) |
I95F |
probably benign |
Het |
| Or5al5 |
A |
T |
2: 85,961,721 (GRCm39) |
Y95* |
probably null |
Het |
| Or8g17 |
G |
T |
9: 38,930,783 (GRCm39) |
T18K |
probably damaging |
Het |
| Oscp1 |
A |
C |
4: 125,982,116 (GRCm39) |
D352A |
possibly damaging |
Het |
| Pcdh9 |
G |
A |
14: 94,123,222 (GRCm39) |
R983C |
probably benign |
Het |
| Pcdhgb8 |
T |
C |
18: 37,896,555 (GRCm39) |
S542P |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,174,030 (GRCm39) |
T490A |
|
Het |
| Pkd1l1 |
A |
T |
11: 8,897,315 (GRCm39) |
D531E |
|
Het |
| Potefam3d |
A |
T |
8: 69,975,404 (GRCm39) |
Y21N |
possibly damaging |
Het |
| Prr3 |
G |
T |
17: 36,290,053 (GRCm39) |
D26E |
possibly damaging |
Het |
| Psmd8 |
T |
C |
7: 28,880,001 (GRCm39) |
K24E |
probably benign |
Het |
| Rasgrp4 |
G |
A |
7: 28,849,362 (GRCm39) |
C583Y |
probably damaging |
Het |
| Rest |
A |
G |
5: 77,416,171 (GRCm39) |
I128M |
probably benign |
Het |
| Rftn1 |
A |
T |
17: 50,393,607 (GRCm39) |
F144I |
probably damaging |
Het |
| Rusc2 |
T |
C |
4: 43,421,851 (GRCm39) |
F757S |
probably benign |
Het |
| Ryr1 |
A |
G |
7: 28,782,810 (GRCm39) |
S1942P |
probably benign |
Het |
| Sdk2 |
C |
T |
11: 113,745,177 (GRCm39) |
R706Q |
probably damaging |
Het |
| Sergef |
G |
T |
7: 46,264,062 (GRCm39) |
T275K |
probably damaging |
Het |
| Serpina10 |
T |
C |
12: 103,594,569 (GRCm39) |
T217A |
probably damaging |
Het |
| Shd |
G |
C |
17: 56,283,235 (GRCm39) |
S288T |
probably damaging |
Het |
| Siglec15 |
C |
A |
18: 78,091,803 (GRCm39) |
A133S |
possibly damaging |
Het |
| Stat4 |
C |
T |
1: 52,118,932 (GRCm39) |
P325L |
probably damaging |
Het |
| Syt8 |
G |
A |
7: 141,993,881 (GRCm39) |
G344D |
probably damaging |
Het |
| Tes |
A |
G |
6: 17,097,291 (GRCm39) |
E133G |
probably benign |
Het |
| Tmprss2 |
T |
C |
16: 97,369,616 (GRCm39) |
Y386C |
probably damaging |
Het |
| Tnfrsf11b |
A |
T |
15: 54,115,502 (GRCm39) |
L365Q |
probably damaging |
Het |
| Tns1 |
T |
A |
1: 73,992,596 (GRCm39) |
D67V |
probably damaging |
Het |
| Tns2 |
T |
C |
15: 102,021,280 (GRCm39) |
S982P |
probably damaging |
Het |
| Tpcn2 |
A |
T |
7: 144,814,683 (GRCm39) |
F473I |
probably benign |
Het |
| Tsg101 |
A |
T |
7: 46,542,257 (GRCm39) |
I232N |
probably damaging |
Het |
| Ttc3 |
T |
C |
16: 94,268,848 (GRCm39) |
S1977P |
probably benign |
Het |
| Ttll11 |
T |
A |
2: 35,869,527 (GRCm39) |
E37V |
unknown |
Het |
| Ttn |
A |
T |
2: 76,649,160 (GRCm39) |
V12716E |
possibly damaging |
Het |
| Vmn2r70 |
A |
C |
7: 85,212,923 (GRCm39) |
S495A |
probably benign |
Het |
| Zfp974 |
A |
G |
7: 27,610,697 (GRCm39) |
C343R |
probably damaging |
Het |
| Zfy1 |
A |
T |
Y: 726,004 (GRCm39) |
I587N |
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 |
|
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 |
|
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'- TGCCCAAGTATCTTCACAGC -3'
(R):5'- TTAGCCAAGCTCAAGGGGATG -3'
Sequencing Primer
(F):5'- AGCCTTATCCCTGTCACCAGAG -3'
(R):5'- CTGTGGTCACTGCCCTGTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation