Incidental Mutation 'IGL00469:Slco2b1'
| ID |
14133 |
| 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 # |
IGL00469
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
99307011-99360547 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99309318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 671
(I671T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032985]
[ENSMUST00000107086]
[ENSMUST00000107088]
|
| AlphaFold |
Q8BXB6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032985
AA Change: I661T
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000032985
Gene: ENSMUSG00000030737
AA Change: I661T
| 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 benign
Transcript: ENSMUST00000107086
AA Change: I661T
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000102701
Gene: ENSMUSG00000030737
AA Change: I661T
| 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 benign
Transcript: ENSMUST00000107088
AA Change: I671T
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102703
Gene: ENSMUSG00000030737
AA Change: I671T
| 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 |
noncoding transcript
Transcript: ENSMUST00000127834
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131160
|
| Predicted Effect |
silent
Transcript: ENSMUST00000154295
|
| SMART Domains |
Protein: ENSMUSP00000121002
Gene: ENSMUSG00000030737
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
5 |
166 |
1.3e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208024
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna2d4 |
A |
G |
6: 119,245,239 (GRCm39) |
I316V |
probably damaging |
Het |
| Ccdc9b |
T |
C |
2: 118,590,170 (GRCm39) |
S225G |
possibly damaging |
Het |
| Ccnb1ip1 |
G |
A |
14: 51,029,556 (GRCm39) |
R169C |
probably damaging |
Het |
| Crip1 |
G |
T |
12: 113,115,755 (GRCm39) |
D59Y |
probably damaging |
Het |
| Cstf2 |
T |
A |
X: 132,974,905 (GRCm39) |
H354Q |
probably damaging |
Het |
| Dcaf8l |
C |
A |
X: 88,449,944 (GRCm39) |
V62F |
possibly damaging |
Het |
| Dchs1 |
A |
T |
7: 105,404,468 (GRCm39) |
D2691E |
probably damaging |
Het |
| Dock2 |
T |
C |
11: 34,179,603 (GRCm39) |
|
probably benign |
Het |
| Fam199x |
T |
C |
X: 135,972,860 (GRCm39) |
I222T |
probably damaging |
Het |
| Flt1 |
A |
T |
5: 147,540,415 (GRCm39) |
L758Q |
probably damaging |
Het |
| Fxr2 |
T |
G |
11: 69,532,965 (GRCm39) |
L181R |
possibly damaging |
Het |
| Gpr158 |
G |
T |
2: 21,751,606 (GRCm39) |
|
probably benign |
Het |
| Hsd3b9 |
T |
A |
3: 98,363,716 (GRCm39) |
Q43L |
probably benign |
Het |
| Lancl2 |
T |
C |
6: 57,711,011 (GRCm39) |
W390R |
probably damaging |
Het |
| Pola1 |
C |
T |
X: 92,638,391 (GRCm39) |
V459I |
possibly damaging |
Het |
| Pola1 |
T |
C |
X: 92,604,991 (GRCm39) |
T981A |
probably damaging |
Het |
| Prss44 |
T |
C |
9: 110,644,557 (GRCm39) |
S222P |
probably benign |
Het |
| Sec16a |
T |
C |
2: 26,318,312 (GRCm39) |
N1593S |
probably damaging |
Het |
| Tm9sf4 |
T |
C |
2: 153,044,275 (GRCm39) |
I509T |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,626,702 (GRCm39) |
T351A |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,282,273 (GRCm39) |
Q768R |
probably damaging |
Het |
| Zfp984 |
C |
T |
4: 147,839,343 (GRCm39) |
G503S |
probably benign |
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 |
|
|
IGL02625:Slco2b1
|
APN |
7 |
99,309,330 (GRCm39) |
splice site |
probably null |
|
|
IGL03164:Slco2b1
|
APN |
7 |
99,334,743 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
2012-12-06 |
Incidental Mutation