Incidental Mutation 'R6987:Osbp2'
| ID |
543039 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osbp2
|
| Ensembl Gene |
ENSMUSG00000020435 |
| Gene Name |
oxysterol binding protein 2 |
| Synonyms |
C630001G20Rik, 1700095P05Rik, OSBPL1, ORP-4 |
| MMRRC Submission |
045094-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R6987 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
3653731-3813903 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3667958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 13
(E13G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070552]
[ENSMUST00000101632]
[ENSMUST00000102950]
[ENSMUST00000127371]
[ENSMUST00000155197]
|
| AlphaFold |
Q5QNQ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070552
AA Change: E377G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000068652
Gene: ENSMUSG00000020435
AA Change: E377G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
|
PH
|
180 |
273 |
1.12e-16 |
SMART |
|
low complexity region
|
281 |
311 |
N/A |
INTRINSIC |
|
Blast:PH
|
312 |
394 |
1e-32 |
BLAST |
|
low complexity region
|
424 |
437 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
519 |
894 |
3.5e-142 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101632
|
| SMART Domains |
Protein: ENSMUSP00000099156
Gene: ENSMUSG00000020435
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
108 |
484 |
2.1e-132 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102950
|
| SMART Domains |
Protein: ENSMUSP00000100015
Gene: ENSMUSG00000020435
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
66 |
442 |
2.8e-132 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127371
AA Change: E120G
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116361
Gene: ENSMUSG00000020435
AA Change: E120G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
54 |
N/A |
INTRINSIC |
|
Blast:PH
|
55 |
137 |
8e-37 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155197
AA Change: E13G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.3191 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.9%
|
| Validation Efficiency |
100% (47/47) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene belongs to the oxysterol-binding protein-related family of proteins, which are defined by a C-terminal sterol domain with a highly conserved EQVSHHPP motif. Oxysterols are oxygenated derivatives of cholesterol that are involved in mechanisms that include apoptosis, cholesterol homeostasis, lipid trafficking and cell differentiation. This protein is selectively expressed at high levels in the brain and testis. Within the testis, the mRNA is localized to postmeiotic germ cells, including spermatids and spermatozoa, but is not detectable in somatic cells. Mice homozygous mutant for a targeted deletion in this gene do not exhibit overt developmental phenotypes but are male sterile. Females display normal fertility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility with sperm defects including oligozoospermia, teratozoospermia, asthenozoospermia and abnormal spermiogenesis. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(2) : Gene trapped(2) |
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam10 |
A |
G |
9: 70,629,978 (GRCm39) |
I137V |
probably benign |
Het |
| Agtr1b |
A |
C |
3: 20,370,585 (GRCm39) |
I7S |
probably benign |
Het |
| Akt2 |
G |
T |
7: 27,332,666 (GRCm39) |
V215L |
probably damaging |
Het |
| Ccdc148 |
C |
A |
2: 58,872,926 (GRCm39) |
L294F |
probably damaging |
Het |
| Ccdc3 |
T |
A |
2: 5,143,115 (GRCm39) |
V124E |
possibly damaging |
Het |
| Cldnd1 |
A |
G |
16: 58,551,734 (GRCm39) |
D121G |
probably benign |
Het |
| Cnr1 |
A |
G |
4: 33,944,739 (GRCm39) |
I376V |
probably benign |
Het |
| Cyp2c40 |
A |
G |
19: 39,801,211 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,881,065 (GRCm39) |
I601V |
possibly damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,353,792 (GRCm39) |
H2982N |
probably damaging |
Het |
| Elavl4 |
A |
T |
4: 110,108,602 (GRCm39) |
D55E |
possibly damaging |
Het |
| Enc1 |
T |
C |
13: 97,382,144 (GRCm39) |
I218T |
probably benign |
Het |
| Fbln2 |
T |
A |
6: 91,211,211 (GRCm39) |
V385D |
probably benign |
Het |
| Ffar2 |
A |
G |
7: 30,519,108 (GRCm39) |
V144A |
possibly damaging |
Het |
| Fsip2 |
C |
T |
2: 82,778,630 (GRCm39) |
Q159* |
probably null |
Het |
| Golga4 |
A |
G |
9: 118,387,600 (GRCm39) |
H1574R |
probably benign |
Het |
| Herc2 |
G |
A |
7: 55,756,201 (GRCm39) |
R747H |
possibly damaging |
Het |
| Lama4 |
A |
G |
10: 38,950,275 (GRCm39) |
N985D |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,410,874 (GRCm39) |
N1438S |
probably damaging |
Het |
| Masp1 |
C |
A |
16: 23,332,665 (GRCm39) |
V57F |
probably damaging |
Het |
| Mypn |
T |
C |
10: 63,028,910 (GRCm39) |
E51G |
probably benign |
Het |
| Nos1 |
C |
T |
5: 118,033,850 (GRCm39) |
T324M |
probably benign |
Het |
| Npas3 |
A |
G |
12: 54,115,036 (GRCm39) |
K635E |
possibly damaging |
Het |
| Or5p4 |
C |
A |
7: 107,680,338 (GRCm39) |
C112* |
probably null |
Het |
| Or8b12i |
A |
T |
9: 20,082,130 (GRCm39) |
S246T |
probably benign |
Het |
| Pira12 |
A |
G |
7: 3,900,660 (GRCm39) |
I30T |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,852,575 (GRCm39) |
M636T |
probably benign |
Het |
| Pla2g4e |
C |
T |
2: 120,016,861 (GRCm39) |
A227T |
probably benign |
Het |
| Prex2 |
C |
A |
1: 11,240,976 (GRCm39) |
A1028E |
probably damaging |
Het |
| Prr14 |
A |
G |
7: 127,072,977 (GRCm39) |
D49G |
possibly damaging |
Het |
| Slc9a9 |
A |
G |
9: 94,552,043 (GRCm39) |
|
probably benign |
Het |
| Sptb |
A |
G |
12: 76,660,021 (GRCm39) |
C960R |
probably benign |
Het |
| Taf15 |
C |
A |
11: 83,375,521 (GRCm39) |
T31K |
possibly damaging |
Het |
| Tdrd9 |
C |
A |
12: 111,992,027 (GRCm39) |
Q601K |
possibly damaging |
Het |
| Tes |
C |
A |
6: 17,086,154 (GRCm39) |
Q16K |
probably benign |
Het |
| Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
| Tmem168 |
T |
A |
6: 13,591,476 (GRCm39) |
M63L |
possibly damaging |
Het |
| Trav14-1 |
C |
T |
14: 53,791,916 (GRCm39) |
R89* |
probably null |
Het |
| Trp53bp2 |
A |
T |
1: 182,274,200 (GRCm39) |
Y615F |
probably damaging |
Het |
| Ttc27 |
T |
C |
17: 75,084,736 (GRCm39) |
|
probably null |
Het |
| Usp25 |
T |
A |
16: 76,874,068 (GRCm39) |
V548E |
probably damaging |
Het |
| Vmn1r124 |
A |
T |
7: 20,993,743 (GRCm39) |
I267K |
probably benign |
Het |
| Vmn1r69 |
A |
G |
7: 10,314,491 (GRCm39) |
M1T |
probably null |
Het |
| Zfp729a |
T |
A |
13: 67,768,058 (GRCm39) |
K724* |
probably null |
Het |
| Zfp850 |
A |
T |
7: 27,689,426 (GRCm39) |
C261S |
probably damaging |
Het |
| Zfp882 |
T |
A |
8: 72,668,517 (GRCm39) |
V448E |
probably benign |
Het |
| Zzef1 |
A |
G |
11: 72,746,340 (GRCm39) |
M881V |
possibly damaging |
Het |
|
| Other mutations in Osbp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Osbp2
|
APN |
11 |
3,661,848 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00231:Osbp2
|
APN |
11 |
3,676,561 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01023:Osbp2
|
APN |
11 |
3,813,387 (GRCm39) |
missense |
probably benign |
|
|
IGL01819:Osbp2
|
APN |
11 |
3,667,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01931:Osbp2
|
APN |
11 |
3,655,388 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01933:Osbp2
|
APN |
11 |
3,662,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02166:Osbp2
|
APN |
11 |
3,667,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02751:Osbp2
|
APN |
11 |
3,813,434 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02812:Osbp2
|
APN |
11 |
3,664,637 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03289:Osbp2
|
APN |
11 |
3,813,380 (GRCm39) |
missense |
probably benign |
|
|
3-1:Osbp2
|
UTSW |
11 |
3,813,470 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0035:Osbp2
|
UTSW |
11 |
3,667,997 (GRCm39) |
splice site |
probably benign |
|
|
R0109:Osbp2
|
UTSW |
11 |
3,661,791 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0414:Osbp2
|
UTSW |
11 |
3,769,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0491:Osbp2
|
UTSW |
11 |
3,664,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0791:Osbp2
|
UTSW |
11 |
3,661,882 (GRCm39) |
splice site |
probably benign |
|
|
R1473:Osbp2
|
UTSW |
11 |
3,667,175 (GRCm39) |
splice site |
probably null |
|
|
R1630:Osbp2
|
UTSW |
11 |
3,667,167 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1931:Osbp2
|
UTSW |
11 |
3,676,333 (GRCm39) |
splice site |
probably null |
|
|
R2697:Osbp2
|
UTSW |
11 |
3,813,407 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3799:Osbp2
|
UTSW |
11 |
3,667,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4700:Osbp2
|
UTSW |
11 |
3,662,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4718:Osbp2
|
UTSW |
11 |
3,661,793 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4788:Osbp2
|
UTSW |
11 |
3,813,320 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5381:Osbp2
|
UTSW |
11 |
3,655,593 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5615:Osbp2
|
UTSW |
11 |
3,813,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5681:Osbp2
|
UTSW |
11 |
3,813,486 (GRCm39) |
missense |
probably benign |
|
|
R6171:Osbp2
|
UTSW |
11 |
3,667,221 (GRCm39) |
splice site |
probably null |
|
|
R6329:Osbp2
|
UTSW |
11 |
3,665,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6861:Osbp2
|
UTSW |
11 |
3,665,191 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7205:Osbp2
|
UTSW |
11 |
3,662,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7316:Osbp2
|
UTSW |
11 |
3,676,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7540:Osbp2
|
UTSW |
11 |
3,667,944 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7559:Osbp2
|
UTSW |
11 |
3,662,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7830:Osbp2
|
UTSW |
11 |
3,813,414 (GRCm39) |
missense |
probably benign |
|
|
R8085:Osbp2
|
UTSW |
11 |
3,662,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9044:Osbp2
|
UTSW |
11 |
3,667,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9087:Osbp2
|
UTSW |
11 |
3,667,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9148:Osbp2
|
UTSW |
11 |
3,665,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9281:Osbp2
|
UTSW |
11 |
3,813,375 (GRCm39) |
missense |
probably benign |
|
|
R9420:Osbp2
|
UTSW |
11 |
3,662,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9437:Osbp2
|
UTSW |
11 |
3,664,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0060:Osbp2
|
UTSW |
11 |
3,770,035 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTATGGAGCCCAAGAGGTACAG -3'
(R):5'- AGGATGTTCCAGCAGACAGC -3'
Sequencing Primer
(F):5'- GCAGCGCTAGAATGCACC -3'
(R):5'- CTGAGGTCCTAGCTGTGATGAAC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation