Incidental Mutation 'R0370:Slco2b1'
ID |
30428 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slco2b1
|
Ensembl Gene |
ENSMUSG00000030737 |
Gene Name |
solute carrier organic anion transporter family, member 2b1 |
Synonyms |
OATP-B, Slc21a9 |
MMRRC Submission |
038576-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0370 (G1)
|
Quality Score |
217 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
99307011-99360547 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 99339644 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 100
(N100Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146717
(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: N86Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032985 Gene: ENSMUSG00000030737 AA Change: N86Y
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: N86Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102701 Gene: ENSMUSG00000030737 AA Change: N86Y
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: N96Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102703 Gene: ENSMUSG00000030737 AA Change: N96Y
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 damaging
Transcript: ENSMUST00000145381
AA Change: N100Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123439 Gene: ENSMUSG00000030737 AA Change: N100Y
Domain | Start | End | E-Value | Type |
Pfam:OATP
|
54 |
150 |
6.5e-41 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207090
|
Predicted Effect |
unknown
Transcript: ENSMUST00000208713
AA Change: N49Y
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208225
AA Change: N100Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208250
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l1 |
T |
C |
8: 124,228,293 (GRCm39) |
S666P |
probably damaging |
Het |
B3gntl1 |
A |
T |
11: 121,514,980 (GRCm39) |
W263R |
probably damaging |
Het |
Carmil3 |
A |
G |
14: 55,732,899 (GRCm39) |
N270S |
possibly damaging |
Het |
Ctdp1 |
T |
C |
18: 80,492,569 (GRCm39) |
E642G |
probably damaging |
Het |
Cyp2b9 |
A |
T |
7: 25,909,531 (GRCm39) |
K433M |
probably damaging |
Het |
Dcc |
A |
G |
18: 71,721,056 (GRCm39) |
V435A |
possibly damaging |
Het |
Defa26 |
A |
T |
8: 22,108,875 (GRCm39) |
M87L |
probably benign |
Het |
Dnah11 |
T |
A |
12: 117,958,962 (GRCm39) |
I2974L |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,685,943 (GRCm39) |
D131G |
possibly damaging |
Het |
Dock6 |
A |
T |
9: 21,725,861 (GRCm39) |
S1447R |
probably benign |
Het |
Dtl |
G |
T |
1: 191,307,462 (GRCm39) |
N17K |
probably benign |
Het |
Grid2 |
A |
G |
6: 64,322,718 (GRCm39) |
I573V |
possibly damaging |
Het |
Hoxa9 |
T |
C |
6: 52,202,684 (GRCm39) |
E134G |
possibly damaging |
Het |
Kcnn3 |
A |
T |
3: 89,574,399 (GRCm39) |
N637I |
probably damaging |
Het |
Ktn1 |
T |
C |
14: 47,901,532 (GRCm39) |
F97L |
probably benign |
Het |
Lmbrd2 |
T |
C |
15: 9,165,939 (GRCm39) |
I271T |
probably damaging |
Het |
Lrp6 |
A |
C |
6: 134,456,729 (GRCm39) |
I845S |
probably damaging |
Het |
Med13l |
T |
A |
5: 118,879,891 (GRCm39) |
N994K |
probably benign |
Het |
Mrrf |
A |
T |
2: 36,067,125 (GRCm39) |
|
probably null |
Het |
Mtmr1 |
G |
A |
X: 70,431,837 (GRCm39) |
V125I |
probably damaging |
Het |
Nol8 |
C |
T |
13: 49,815,923 (GRCm39) |
A677V |
possibly damaging |
Het |
Or13g1 |
T |
A |
7: 85,956,057 (GRCm39) |
N88I |
probably benign |
Het |
Or51k1 |
T |
G |
7: 103,661,266 (GRCm39) |
L214F |
probably damaging |
Het |
Or8k3 |
A |
T |
2: 86,059,057 (GRCm39) |
V86D |
probably damaging |
Het |
Paxip1 |
C |
A |
5: 27,965,084 (GRCm39) |
V659F |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,571,104 (GRCm39) |
V163A |
probably damaging |
Het |
Pkn3 |
T |
A |
2: 29,977,184 (GRCm39) |
H641Q |
probably damaging |
Het |
Plekhg6 |
G |
A |
6: 125,347,623 (GRCm39) |
R444C |
probably damaging |
Het |
Rfx2 |
T |
C |
17: 57,106,308 (GRCm39) |
E175G |
probably benign |
Het |
Samd9l |
A |
C |
6: 3,377,264 (GRCm39) |
|
probably benign |
Het |
Sec14l5 |
A |
T |
16: 4,998,570 (GRCm39) |
T537S |
probably damaging |
Het |
Serpinb9d |
A |
G |
13: 33,379,949 (GRCm39) |
E96G |
probably damaging |
Het |
Setd4 |
T |
C |
16: 93,388,006 (GRCm39) |
E160G |
probably damaging |
Het |
Sf3b2 |
C |
T |
19: 5,324,852 (GRCm39) |
D845N |
probably damaging |
Het |
Slc16a4 |
A |
G |
3: 107,208,413 (GRCm39) |
I308V |
possibly damaging |
Het |
Sptbn1 |
A |
T |
11: 30,071,545 (GRCm39) |
S1475R |
probably benign |
Het |
Tecta |
T |
C |
9: 42,278,100 (GRCm39) |
D1136G |
probably benign |
Het |
Tmem94 |
G |
C |
11: 115,679,543 (GRCm39) |
R273S |
probably damaging |
Het |
Tns3 |
A |
G |
11: 8,395,730 (GRCm39) |
S1225P |
possibly damaging |
Het |
Ugt2b36 |
A |
G |
5: 87,239,834 (GRCm39) |
Y184H |
probably benign |
Het |
Vmn2r59 |
A |
T |
7: 41,662,150 (GRCm39) |
M555K |
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 |
|
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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCACTCCAAGGTCAGTCAAAGGG -3'
(R):5'- CCATGACTTCTGATGGTGTCCGTTC -3'
Sequencing Primer
(F):5'- GTTCTCTAGCAAAGGGCTCCTAAG -3'
(R):5'- ATGGTGTCCGTTCACCTG -3'
|
Posted On |
2013-04-24 |