Incidental Mutation 'R8100:Osbpl10'
| ID |
630464 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbpl10
|
| Ensembl Gene |
ENSMUSG00000040875 |
| Gene Name |
oxysterol binding protein-like 10 |
| Synonyms |
OPR-10, C820004B04Rik, 4933433D06Rik |
| MMRRC Submission |
067532-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8100 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
114807637-115061293 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 114996322 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 128
(R128H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038013
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046627]
[ENSMUST00000182199]
[ENSMUST00000182384]
[ENSMUST00000183104]
[ENSMUST00000183141]
|
| AlphaFold |
S4R1M9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046627
AA Change: R128H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038013
Gene: ENSMUSG00000040875
AA Change: R128H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
95 |
116 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
229 |
535 |
7.8e-70 |
PFAM |
|
Pfam:Oxysterol_BP
|
532 |
589 |
1e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182199
|
| SMART Domains |
Protein: ENSMUSP00000138206
Gene: ENSMUSG00000040875
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
36 |
8e-19 |
BLAST |
|
PDB:2D9X|A
|
1 |
42 |
2e-8 |
PDB |
|
SCOP:d1ki1b2
|
10 |
42 |
7e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182384
AA Change: R164H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000138552
Gene: ENSMUSG00000040875
AA Change: R164H
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
36 |
8e-16 |
BLAST |
|
PDB:2D9X|A
|
2 |
46 |
6e-7 |
PDB |
|
SCOP:d1ki1b2
|
10 |
42 |
9e-3 |
SMART |
|
low complexity region
|
131 |
152 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
262 |
626 |
1.5e-72 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183104
AA Change: R303H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000138287
Gene: ENSMUSG00000040875
AA Change: R303H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
75 |
N/A |
INTRINSIC |
|
PH
|
77 |
175 |
2.72e-15 |
SMART |
|
low complexity region
|
270 |
291 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
401 |
765 |
1.4e-72 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183141
AA Change: R164H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000138760
Gene: ENSMUSG00000040875
AA Change: R164H
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
36 |
3e-18 |
BLAST |
|
PDB:2D9X|A
|
2 |
46 |
6e-8 |
PDB |
|
SCOP:d1ki1b2
|
10 |
42 |
9e-4 |
SMART |
|
low complexity region
|
131 |
152 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
| 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. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
G |
A |
14: 56,009,722 (GRCm39) |
Q777* |
probably null |
Het |
| Art1 |
T |
C |
7: 101,756,405 (GRCm39) |
S199P |
probably damaging |
Het |
| Cadps2 |
A |
T |
6: 23,838,808 (GRCm39) |
M110K |
probably damaging |
Het |
| Cdk13 |
C |
T |
13: 17,978,101 (GRCm39) |
R379Q |
unknown |
Het |
| Cdk7 |
T |
C |
13: 100,842,925 (GRCm39) |
I272V |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,829,148 (GRCm39) |
D192G |
probably damaging |
Het |
| Chrna6 |
C |
T |
8: 27,903,844 (GRCm39) |
|
probably benign |
Het |
| Ciart |
G |
A |
3: 95,788,656 (GRCm39) |
P61L |
probably damaging |
Het |
| Ckmt1 |
T |
A |
2: 121,191,258 (GRCm39) |
D223E |
probably benign |
Het |
| Col6a5 |
C |
T |
9: 105,755,839 (GRCm39) |
R2195H |
probably damaging |
Het |
| D430041D05Rik |
C |
T |
2: 104,087,287 (GRCm39) |
R563H |
probably benign |
Het |
| Defa29 |
A |
T |
8: 21,816,990 (GRCm39) |
M1K |
probably null |
Het |
| Dnah11 |
A |
G |
12: 117,930,368 (GRCm39) |
S3326P |
probably damaging |
Het |
| Dsg3 |
A |
G |
18: 20,662,028 (GRCm39) |
D431G |
probably benign |
Het |
| Ell3 |
TCTCCTC |
TCTC |
2: 121,269,937 (GRCm39) |
|
probably benign |
Het |
| Fbln1 |
T |
A |
15: 85,169,357 (GRCm39) |
F699I |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 7,990,685 (GRCm39) |
S1004P |
unknown |
Het |
| Gpr15 |
T |
A |
16: 58,538,076 (GRCm39) |
T338S |
probably benign |
Het |
| Grin2d |
T |
C |
7: 45,483,171 (GRCm39) |
Y1002C |
unknown |
Het |
| Hk2 |
C |
T |
6: 82,707,859 (GRCm39) |
M703I |
probably benign |
Het |
| Ifi213 |
A |
C |
1: 173,422,748 (GRCm39) |
L39R |
probably damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
C |
A |
10: 26,917,113 (GRCm39) |
A2271S |
probably benign |
Het |
| Lmo7 |
A |
T |
14: 102,137,899 (GRCm39) |
Q867L |
probably benign |
Het |
| Loxhd1 |
T |
A |
18: 77,492,512 (GRCm39) |
S1427T |
possibly damaging |
Het |
| Lzts1 |
A |
G |
8: 69,593,397 (GRCm39) |
V70A |
probably damaging |
Het |
| Mocs3 |
A |
G |
2: 168,073,257 (GRCm39) |
T235A |
possibly damaging |
Het |
| Myo15a |
G |
A |
11: 60,408,016 (GRCm39) |
R3168H |
probably damaging |
Het |
| Ndc1 |
A |
G |
4: 107,240,802 (GRCm39) |
D260G |
possibly damaging |
Het |
| Nfam1 |
T |
C |
15: 82,900,730 (GRCm39) |
D44G |
probably damaging |
Het |
| Or4a47 |
G |
A |
2: 89,666,029 (GRCm39) |
Q87* |
probably null |
Het |
| Otx1 |
C |
A |
11: 21,949,392 (GRCm39) |
V29L |
probably benign |
Het |
| Pogk |
A |
T |
1: 166,229,511 (GRCm39) |
D113E |
possibly damaging |
Het |
| Ptgs2 |
T |
C |
1: 149,978,472 (GRCm39) |
F195L |
probably damaging |
Het |
| Ptpn21 |
T |
A |
12: 98,648,881 (GRCm39) |
E925V |
possibly damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,326,470 (GRCm39) |
F2714L |
possibly damaging |
Het |
| Rbm20 |
T |
G |
19: 53,839,744 (GRCm39) |
I911S |
possibly damaging |
Het |
| Rwdd2b |
A |
G |
16: 87,233,509 (GRCm39) |
V197A |
possibly damaging |
Het |
| Sel1l2 |
C |
G |
2: 140,117,329 (GRCm39) |
A181P |
probably damaging |
Het |
| Sf1 |
A |
G |
19: 6,422,368 (GRCm39) |
E234G |
possibly damaging |
Het |
| Skint2 |
A |
C |
4: 112,483,197 (GRCm39) |
T201P |
probably damaging |
Het |
| Sra1 |
C |
T |
18: 36,809,948 (GRCm39) |
R199H |
probably damaging |
Het |
| Svs5 |
A |
G |
2: 164,079,712 (GRCm39) |
M65T |
probably benign |
Het |
| Tgif1 |
C |
A |
17: 71,153,544 (GRCm39) |
|
probably benign |
Het |
| Tmem184c |
A |
G |
8: 78,331,411 (GRCm39) |
W113R |
possibly damaging |
Het |
| Tmem30a |
T |
C |
9: 79,681,432 (GRCm39) |
R282G |
probably benign |
Het |
| Top1 |
T |
A |
2: 160,540,155 (GRCm39) |
Y244* |
probably null |
Het |
| Trank1 |
A |
G |
9: 111,221,861 (GRCm39) |
Y2866C |
probably damaging |
Het |
| Trim7 |
A |
C |
11: 48,740,346 (GRCm39) |
I148L |
probably damaging |
Het |
| Triml1 |
T |
A |
8: 43,591,717 (GRCm39) |
M214L |
probably benign |
Het |
| Usp30 |
T |
G |
5: 114,249,245 (GRCm39) |
V183G |
probably damaging |
Het |
| Vmn1r175 |
G |
A |
7: 23,508,012 (GRCm39) |
S205F |
probably damaging |
Het |
| Zbtb32 |
CTTG |
CTTGTTG |
7: 30,290,946 (GRCm39) |
|
probably benign |
Het |
| Zfp108 |
T |
A |
7: 23,960,602 (GRCm39) |
C398S |
probably damaging |
Het |
| Zfp592 |
T |
G |
7: 80,673,940 (GRCm39) |
D301E |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
|
| Other mutations in Osbpl10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01140:Osbpl10
|
APN |
9 |
115,005,070 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01318:Osbpl10
|
APN |
9 |
115,061,190 (GRCm39) |
nonsense |
probably null |
|
|
IGL02023:Osbpl10
|
APN |
9 |
115,055,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02096:Osbpl10
|
APN |
9 |
115,046,062 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Weeblo
|
UTSW |
9 |
115,036,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0534:Osbpl10
|
UTSW |
9 |
114,996,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0948:Osbpl10
|
UTSW |
9 |
114,996,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1073:Osbpl10
|
UTSW |
9 |
115,036,621 (GRCm39) |
nonsense |
probably null |
|
|
R2138:Osbpl10
|
UTSW |
9 |
115,061,202 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3709:Osbpl10
|
UTSW |
9 |
115,036,655 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3710:Osbpl10
|
UTSW |
9 |
115,036,655 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4406:Osbpl10
|
UTSW |
9 |
114,938,549 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4738:Osbpl10
|
UTSW |
9 |
115,045,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4778:Osbpl10
|
UTSW |
9 |
114,938,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4779:Osbpl10
|
UTSW |
9 |
114,938,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5828:Osbpl10
|
UTSW |
9 |
114,890,944 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5874:Osbpl10
|
UTSW |
9 |
115,055,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6052:Osbpl10
|
UTSW |
9 |
114,896,383 (GRCm39) |
splice site |
probably null |
|
|
R6103:Osbpl10
|
UTSW |
9 |
114,890,940 (GRCm39) |
nonsense |
probably null |
|
|
R6174:Osbpl10
|
UTSW |
9 |
114,938,555 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6246:Osbpl10
|
UTSW |
9 |
115,055,842 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7008:Osbpl10
|
UTSW |
9 |
114,890,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7027:Osbpl10
|
UTSW |
9 |
115,052,766 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7182:Osbpl10
|
UTSW |
9 |
114,896,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7285:Osbpl10
|
UTSW |
9 |
115,052,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7556:Osbpl10
|
UTSW |
9 |
115,036,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7810:Osbpl10
|
UTSW |
9 |
114,890,962 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7853:Osbpl10
|
UTSW |
9 |
115,036,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7905:Osbpl10
|
UTSW |
9 |
114,891,078 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8376:Osbpl10
|
UTSW |
9 |
115,052,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8515:Osbpl10
|
UTSW |
9 |
115,005,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8537:Osbpl10
|
UTSW |
9 |
115,058,977 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8706:Osbpl10
|
UTSW |
9 |
115,036,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9021:Osbpl10
|
UTSW |
9 |
114,807,939 (GRCm39) |
missense |
unknown |
|
|
R9022:Osbpl10
|
UTSW |
9 |
114,807,939 (GRCm39) |
missense |
unknown |
|
|
R9071:Osbpl10
|
UTSW |
9 |
114,890,908 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9192:Osbpl10
|
UTSW |
9 |
114,996,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9198:Osbpl10
|
UTSW |
9 |
115,061,211 (GRCm39) |
nonsense |
probably null |
|
|
R9729:Osbpl10
|
UTSW |
9 |
115,052,804 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9771:Osbpl10
|
UTSW |
9 |
114,896,356 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTCATGAAAGCAAGCCTC -3'
(R):5'- GCTGGACTGAAGGATAGCTG -3'
Sequencing Primer
(F):5'- CCTTGTTTTCTAGATGATGAACCAGG -3'
(R):5'- TAGTGAGTTCAAAGCTGCCC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation