Incidental Mutation 'IGL03164:Slco2b1'
| ID |
411546 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slco2b1
|
| Ensembl Gene |
ENSMUSG00000030737 |
| Gene Name |
solute carrier organic anion transporter family, member 2b1 |
| Synonyms |
OATP-B, Slc21a9 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03164
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
99307011-99360547 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 99334743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 243
(A243T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032985]
[ENSMUST00000107086]
[ENSMUST00000107088]
[ENSMUST00000137914]
[ENSMUST00000145381]
[ENSMUST00000207090]
[ENSMUST00000208225]
|
| AlphaFold |
Q8BXB6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032985
AA Change: A233T
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000032985
Gene: ENSMUSG00000030737
AA Change: A233T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
40 |
637 |
9.3e-189 |
PFAM |
|
Pfam:MFS_1
|
44 |
468 |
1.9e-17 |
PFAM |
|
transmembrane domain
|
640 |
662 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107086
AA Change: A233T
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102701
Gene: ENSMUSG00000030737
AA Change: A233T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
40 |
637 |
9.3e-189 |
PFAM |
|
Pfam:MFS_1
|
44 |
468 |
1.9e-17 |
PFAM |
|
transmembrane domain
|
640 |
662 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107088
AA Change: A243T
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102703
Gene: ENSMUSG00000030737
AA Change: A243T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
52 |
646 |
3.6e-182 |
PFAM |
|
Pfam:MFS_1
|
53 |
476 |
2e-17 |
PFAM |
|
transmembrane domain
|
650 |
672 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137914
|
| SMART Domains |
Protein: ENSMUSP00000115872
Gene: ENSMUSG00000030737
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
54 |
85 |
3.9e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145381
|
| SMART Domains |
Protein: ENSMUSP00000123439
Gene: ENSMUSG00000030737
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
54 |
150 |
6.5e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207090
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208225
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208713
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the organic anion-transporting polypeptide family of membrane proteins. The protein encoded by this locus may function in regulation of placental uptake of sulfated steroids. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]
|
| Allele List at MGI |
All alleles(1) : Targeted, other(1) |
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
A |
G |
3: 59,947,070 (GRCm39) |
D256G |
probably damaging |
Het |
| Abcb11 |
A |
T |
2: 69,122,343 (GRCm39) |
L380* |
probably null |
Het |
| Aco1 |
A |
T |
4: 40,167,116 (GRCm39) |
N110I |
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,866,918 (GRCm39) |
D126G |
probably damaging |
Het |
| Anks1b |
T |
G |
10: 89,878,554 (GRCm39) |
V121G |
probably damaging |
Het |
| Ap1s3 |
A |
G |
1: 79,602,887 (GRCm39) |
L40P |
probably damaging |
Het |
| Cd19 |
C |
A |
7: 126,012,681 (GRCm39) |
M237I |
possibly damaging |
Het |
| Chil6 |
T |
C |
3: 106,301,714 (GRCm39) |
T129A |
probably benign |
Het |
| Chtf18 |
A |
G |
17: 25,945,816 (GRCm39) |
M94T |
probably benign |
Het |
| Clstn2 |
G |
T |
9: 97,681,462 (GRCm39) |
D59E |
possibly damaging |
Het |
| Cplx3 |
T |
C |
9: 57,517,278 (GRCm39) |
T369A |
probably damaging |
Het |
| Ctnnbl1 |
A |
C |
2: 157,659,681 (GRCm39) |
M253L |
probably benign |
Het |
| Erg |
T |
C |
16: 95,210,730 (GRCm39) |
T41A |
possibly damaging |
Het |
| Gjd3 |
T |
A |
11: 102,691,547 (GRCm39) |
N152I |
possibly damaging |
Het |
| Ints1 |
A |
G |
5: 139,738,490 (GRCm39) |
L2084P |
probably damaging |
Het |
| Isoc1 |
C |
T |
18: 58,806,404 (GRCm39) |
S238L |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,415,980 (GRCm39) |
D1633E |
probably damaging |
Het |
| Krt76 |
T |
C |
15: 101,795,886 (GRCm39) |
D428G |
possibly damaging |
Het |
| Lrp2 |
G |
T |
2: 69,295,043 (GRCm39) |
T3425K |
probably damaging |
Het |
| Lta4h |
T |
C |
10: 93,306,659 (GRCm39) |
|
probably benign |
Het |
| Nap1l4 |
C |
T |
7: 143,091,953 (GRCm39) |
|
probably null |
Het |
| Nlrp5 |
T |
A |
7: 23,117,798 (GRCm39) |
Y507* |
probably null |
Het |
| Nps |
T |
C |
7: 134,874,039 (GRCm39) |
S53P |
probably damaging |
Het |
| Oprk1 |
A |
T |
1: 5,669,087 (GRCm39) |
I178F |
probably damaging |
Het |
| Or2a12 |
C |
T |
6: 42,905,064 (GRCm39) |
R300* |
probably null |
Het |
| Or5p1 |
T |
C |
7: 107,916,901 (GRCm39) |
S267P |
probably damaging |
Het |
| Osgin2 |
G |
T |
4: 16,001,938 (GRCm39) |
S204R |
probably benign |
Het |
| Otop1 |
G |
T |
5: 38,445,306 (GRCm39) |
G155* |
probably null |
Het |
| Peli3 |
A |
G |
19: 4,986,144 (GRCm39) |
|
probably null |
Het |
| Pex7 |
T |
A |
10: 19,770,461 (GRCm39) |
|
probably benign |
Het |
| Pfkm |
T |
C |
15: 98,029,843 (GRCm39) |
L749P |
probably damaging |
Het |
| Pwp1 |
T |
A |
10: 85,714,367 (GRCm39) |
F103Y |
probably benign |
Het |
| Rhod |
T |
C |
19: 4,482,829 (GRCm39) |
K63E |
possibly damaging |
Het |
| Rtl1 |
T |
C |
12: 109,559,367 (GRCm39) |
E824G |
probably damaging |
Het |
| Sema4d |
A |
G |
13: 51,862,958 (GRCm39) |
F467L |
possibly damaging |
Het |
| Septin10 |
T |
C |
10: 59,016,921 (GRCm39) |
E201G |
probably damaging |
Het |
| Slc37a3 |
G |
A |
6: 39,322,237 (GRCm39) |
T389I |
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 46,235,911 (GRCm39) |
T187A |
probably benign |
Het |
| Supt20 |
T |
A |
3: 54,620,609 (GRCm39) |
D389E |
probably benign |
Het |
| Tchh |
A |
G |
3: 93,352,699 (GRCm39) |
D713G |
unknown |
Het |
| Trappc10 |
T |
C |
10: 78,056,076 (GRCm39) |
R209G |
probably damaging |
Het |
| Unc119 |
A |
G |
11: 78,239,002 (GRCm39) |
D176G |
probably damaging |
Het |
| Usb1 |
G |
A |
8: 96,060,112 (GRCm39) |
R21Q |
probably damaging |
Het |
|
| Other mutations in Slco2b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00435:Slco2b1
|
APN |
7 |
99,309,259 (GRCm39) |
nonsense |
probably null |
|
|
IGL00469:Slco2b1
|
APN |
7 |
99,309,318 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02625:Slco2b1
|
APN |
7 |
99,309,330 (GRCm39) |
splice site |
probably null |
|
|
3-1:Slco2b1
|
UTSW |
7 |
99,334,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0076:Slco2b1
|
UTSW |
7 |
99,334,708 (GRCm39) |
nonsense |
probably null |
|
|
R0370:Slco2b1
|
UTSW |
7 |
99,339,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0469:Slco2b1
|
UTSW |
7 |
99,310,743 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0510:Slco2b1
|
UTSW |
7 |
99,310,743 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1456:Slco2b1
|
UTSW |
7 |
99,314,114 (GRCm39) |
missense |
probably null |
|
|
R1868:Slco2b1
|
UTSW |
7 |
99,335,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2046:Slco2b1
|
UTSW |
7 |
99,339,686 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4030:Slco2b1
|
UTSW |
7 |
99,332,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4166:Slco2b1
|
UTSW |
7 |
99,309,333 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4406:Slco2b1
|
UTSW |
7 |
99,314,096 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4643:Slco2b1
|
UTSW |
7 |
99,316,214 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4770:Slco2b1
|
UTSW |
7 |
99,320,156 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4927:Slco2b1
|
UTSW |
7 |
99,335,195 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5033:Slco2b1
|
UTSW |
7 |
99,309,256 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5166:Slco2b1
|
UTSW |
7 |
99,338,220 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5306:Slco2b1
|
UTSW |
7 |
99,338,198 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5358:Slco2b1
|
UTSW |
7 |
99,309,251 (GRCm39) |
missense |
unknown |
|
|
R5389:Slco2b1
|
UTSW |
7 |
99,335,132 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5874:Slco2b1
|
UTSW |
7 |
99,316,301 (GRCm39) |
missense |
probably benign |
|
|
R6151:Slco2b1
|
UTSW |
7 |
99,339,770 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6163:Slco2b1
|
UTSW |
7 |
99,338,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6192:Slco2b1
|
UTSW |
7 |
99,334,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6489:Slco2b1
|
UTSW |
7 |
99,339,762 (GRCm39) |
nonsense |
probably null |
|
|
R6651:Slco2b1
|
UTSW |
7 |
99,316,376 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7135:Slco2b1
|
UTSW |
7 |
99,344,270 (GRCm39) |
missense |
probably null |
0.03 |
|
R7322:Slco2b1
|
UTSW |
7 |
99,341,055 (GRCm39) |
missense |
not run |
|
|
R7353:Slco2b1
|
UTSW |
7 |
99,339,764 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7474:Slco2b1
|
UTSW |
7 |
99,314,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7888:Slco2b1
|
UTSW |
7 |
99,338,050 (GRCm39) |
missense |
unknown |
|
|
R8121:Slco2b1
|
UTSW |
7 |
99,334,760 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8751:Slco2b1
|
UTSW |
7 |
99,309,259 (GRCm39) |
nonsense |
probably null |
|
|
R9031:Slco2b1
|
UTSW |
7 |
99,338,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9068:Slco2b1
|
UTSW |
7 |
99,320,171 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9725:Slco2b1
|
UTSW |
7 |
99,335,265 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation