Incidental Mutation 'IGL02812:Osbp2'
| ID |
360633 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Osbp2
|
| Ensembl Gene |
ENSMUSG00000020435 |
| Gene Name |
oxysterol binding protein 2 |
| Synonyms |
C630001G20Rik, 1700095P05Rik, OSBPL1, ORP-4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
IGL02812
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
3653731-3813903 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3664637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 565
(V565A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070552]
[ENSMUST00000101632]
[ENSMUST00000102950]
[ENSMUST00000127371]
[ENSMUST00000155197]
|
| AlphaFold |
Q5QNQ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070552
AA Change: V565A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000068652
Gene: ENSMUSG00000020435
AA Change: V565A
| 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
AA Change: V154A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099156
Gene: ENSMUSG00000020435
AA Change: V154A
| 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
AA Change: V112A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000100015
Gene: ENSMUSG00000020435
AA Change: V112A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
66 |
442 |
2.8e-132 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127371
|
| SMART Domains |
Protein: ENSMUSP00000116361
Gene: ENSMUSG00000020435
| 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 benign
Transcript: ENSMUST00000155197
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
T |
10: 79,841,881 (GRCm39) |
V1005L |
possibly damaging |
Het |
| Abcc9 |
A |
G |
6: 142,643,516 (GRCm39) |
S11P |
possibly damaging |
Het |
| Acsl1 |
A |
T |
8: 46,945,873 (GRCm39) |
E2V |
possibly damaging |
Het |
| Aox3 |
G |
A |
1: 58,205,055 (GRCm39) |
V757I |
probably benign |
Het |
| Aqp4 |
T |
C |
18: 15,530,632 (GRCm39) |
|
probably null |
Het |
| Arhgef7 |
A |
G |
8: 11,831,245 (GRCm39) |
|
probably benign |
Het |
| Armc9 |
T |
A |
1: 86,172,293 (GRCm39) |
D2E |
probably damaging |
Het |
| Celsr2 |
G |
A |
3: 108,321,429 (GRCm39) |
P461L |
probably benign |
Het |
| Cep170 |
T |
C |
1: 176,570,080 (GRCm39) |
D1339G |
probably damaging |
Het |
| Clk1 |
T |
A |
1: 58,453,635 (GRCm39) |
N317I |
probably damaging |
Het |
| Comp |
G |
A |
8: 70,829,337 (GRCm39) |
G305S |
possibly damaging |
Het |
| Depdc5 |
G |
A |
5: 33,050,712 (GRCm39) |
|
probably benign |
Het |
| Dse |
T |
C |
10: 34,059,712 (GRCm39) |
E131G |
probably damaging |
Het |
| Ecpas |
T |
A |
4: 58,864,343 (GRCm39) |
|
probably benign |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Epha2 |
A |
G |
4: 141,046,230 (GRCm39) |
|
probably benign |
Het |
| Fam243 |
A |
G |
16: 92,117,616 (GRCm39) |
I224T |
probably damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,087,592 (GRCm39) |
|
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,231,624 (GRCm39) |
N321D |
probably damaging |
Het |
| Gm5884 |
A |
G |
6: 128,622,738 (GRCm39) |
|
noncoding transcript |
Het |
| Gp2 |
A |
T |
7: 119,051,452 (GRCm39) |
N254K |
probably benign |
Het |
| Hgh1 |
T |
A |
15: 76,253,754 (GRCm39) |
|
probably null |
Het |
| Inpp5f |
A |
G |
7: 128,284,030 (GRCm39) |
N543S |
probably damaging |
Het |
| Ints7 |
T |
C |
1: 191,351,853 (GRCm39) |
V854A |
probably damaging |
Het |
| Itgb1bp1 |
T |
G |
12: 21,320,879 (GRCm39) |
|
probably benign |
Het |
| Lrrtm4 |
A |
T |
6: 79,998,947 (GRCm39) |
N120Y |
probably damaging |
Het |
| Map3k5 |
T |
C |
10: 19,900,782 (GRCm39) |
S319P |
probably damaging |
Het |
| Mc4r |
A |
G |
18: 66,992,318 (GRCm39) |
L265S |
probably damaging |
Het |
| Morc1 |
T |
C |
16: 48,378,869 (GRCm39) |
|
probably benign |
Het |
| Mre11a |
T |
A |
9: 14,701,966 (GRCm39) |
|
probably null |
Het |
| Msh4 |
T |
C |
3: 153,607,037 (GRCm39) |
|
probably benign |
Het |
| Mterf4 |
A |
G |
1: 93,232,455 (GRCm39) |
L132P |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,368,005 (GRCm39) |
E255V |
probably benign |
Het |
| Myot |
T |
C |
18: 44,479,127 (GRCm39) |
V288A |
probably damaging |
Het |
| Nipa2 |
T |
C |
7: 55,592,766 (GRCm39) |
Y53C |
probably damaging |
Het |
| Npas1 |
T |
A |
7: 16,190,041 (GRCm39) |
I502F |
probably damaging |
Het |
| Or12j5 |
C |
T |
7: 140,083,533 (GRCm39) |
V280M |
probably damaging |
Het |
| Or2y1d |
T |
A |
11: 49,321,749 (GRCm39) |
W149R |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,531,426 (GRCm39) |
S1666P |
probably benign |
Het |
| Per3 |
A |
C |
4: 151,108,927 (GRCm39) |
S476A |
probably damaging |
Het |
| Pja2 |
T |
C |
17: 64,604,789 (GRCm39) |
N465D |
probably damaging |
Het |
| Pla2g4c |
T |
C |
7: 13,082,290 (GRCm39) |
F512S |
probably damaging |
Het |
| Plcd4 |
T |
A |
1: 74,596,967 (GRCm39) |
L403Q |
probably damaging |
Het |
| Psg26 |
T |
C |
7: 18,209,080 (GRCm39) |
T443A |
probably benign |
Het |
| Snapc4 |
T |
A |
2: 26,259,384 (GRCm39) |
T589S |
probably benign |
Het |
| Spag8 |
G |
A |
4: 43,651,755 (GRCm39) |
R404W |
probably damaging |
Het |
| Tdrd7 |
A |
G |
4: 45,994,406 (GRCm39) |
D268G |
probably benign |
Het |
| Tfap2d |
A |
G |
1: 19,213,151 (GRCm39) |
H325R |
possibly damaging |
Het |
| Vmn1r59 |
C |
T |
7: 5,457,176 (GRCm39) |
V195I |
probably damaging |
Het |
| Vmn1r67 |
G |
A |
7: 10,180,945 (GRCm39) |
E70K |
probably benign |
Het |
| Wdr18 |
T |
A |
10: 79,796,898 (GRCm39) |
N91K |
possibly damaging |
Het |
| Zbtb7b |
T |
C |
3: 89,287,081 (GRCm39) |
T463A |
probably 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 |
|
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 |
|
R6987:Osbp2
|
UTSW |
11 |
3,667,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation