Incidental Mutation 'R0076:Slco2b1'
ID |
17004 |
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 |
038363-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0076 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
99307011-99360547 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 99334708 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 254
(Y254*)
|
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 null
Transcript: ENSMUST00000032985
AA Change: Y244*
|
SMART Domains |
Protein: ENSMUSP00000032985 Gene: ENSMUSG00000030737 AA Change: Y244*
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 null
Transcript: ENSMUST00000107086
AA Change: Y244*
|
SMART Domains |
Protein: ENSMUSP00000102701 Gene: ENSMUSG00000030737 AA Change: Y244*
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 null
Transcript: ENSMUST00000107088
AA Change: Y254*
|
SMART Domains |
Protein: ENSMUSP00000102703 Gene: ENSMUSG00000030737 AA Change: Y254*
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: ENSMUST00000208713
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208225
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 89.9%
- 3x: 87.5%
- 10x: 81.6%
- 20x: 72.8%
|
Validation Efficiency |
92% (83/90) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
T |
G |
7: 119,972,908 (GRCm39) |
|
probably benign |
Het |
Acp3 |
A |
G |
9: 104,201,417 (GRCm39) |
|
probably benign |
Het |
Ada |
T |
A |
2: 163,569,523 (GRCm39) |
|
probably benign |
Het |
Ankrd17 |
T |
A |
5: 90,392,265 (GRCm39) |
K1693* |
probably null |
Het |
Arhgef38 |
T |
A |
3: 132,866,507 (GRCm39) |
H210L |
possibly damaging |
Het |
Car10 |
G |
A |
11: 93,381,423 (GRCm39) |
E129K |
possibly damaging |
Het |
Cask |
A |
G |
X: 13,544,513 (GRCm39) |
|
probably benign |
Het |
Cd19 |
T |
C |
7: 126,010,034 (GRCm39) |
D406G |
probably damaging |
Het |
Cd93 |
T |
C |
2: 148,284,056 (GRCm39) |
D430G |
probably benign |
Het |
Cds1 |
T |
C |
5: 101,965,706 (GRCm39) |
|
probably benign |
Het |
Cerkl |
A |
T |
2: 79,173,633 (GRCm39) |
S259T |
possibly damaging |
Het |
Cfap91 |
G |
A |
16: 38,123,046 (GRCm39) |
Q661* |
probably null |
Het |
Cog8 |
T |
C |
8: 107,780,765 (GRCm39) |
I164M |
possibly damaging |
Het |
Col4a1 |
G |
A |
8: 11,268,713 (GRCm39) |
P1009L |
probably damaging |
Het |
Col9a1 |
G |
A |
1: 24,276,578 (GRCm39) |
|
probably null |
Het |
Dcc |
G |
A |
18: 71,454,117 (GRCm39) |
Q1241* |
probably null |
Het |
Dock3 |
A |
C |
9: 106,788,685 (GRCm39) |
|
probably benign |
Het |
Dus1l |
A |
T |
11: 120,683,634 (GRCm39) |
|
probably benign |
Het |
Dvl2 |
G |
A |
11: 69,898,926 (GRCm39) |
E438K |
probably damaging |
Het |
Eif3g |
A |
G |
9: 20,809,049 (GRCm39) |
F85S |
probably damaging |
Het |
Fam234b |
A |
G |
6: 135,204,224 (GRCm39) |
M456V |
probably benign |
Het |
Fbxo47 |
G |
A |
11: 97,748,481 (GRCm39) |
|
probably benign |
Het |
Fyb2 |
A |
G |
4: 104,802,661 (GRCm39) |
T188A |
possibly damaging |
Het |
Gm11437 |
T |
C |
11: 84,039,462 (GRCm39) |
T288A |
possibly damaging |
Het |
Gm5546 |
T |
A |
3: 104,260,448 (GRCm39) |
|
noncoding transcript |
Het |
Gmfb |
C |
A |
14: 47,054,912 (GRCm39) |
A11S |
probably benign |
Het |
Gpat4 |
G |
A |
8: 23,680,721 (GRCm39) |
|
probably benign |
Het |
Ifitm6 |
T |
A |
7: 140,595,920 (GRCm39) |
R124S |
possibly damaging |
Het |
Il17rd |
T |
A |
14: 26,816,811 (GRCm39) |
L172Q |
probably damaging |
Het |
Il4 |
A |
T |
11: 53,504,741 (GRCm39) |
L13Q |
probably damaging |
Het |
Kif2b |
A |
G |
11: 91,466,735 (GRCm39) |
M516T |
probably damaging |
Het |
Kmt2a |
A |
G |
9: 44,741,356 (GRCm39) |
|
probably benign |
Het |
Mark1-ps1 |
T |
A |
17: 54,254,905 (GRCm39) |
|
noncoding transcript |
Het |
Mndal |
G |
T |
1: 173,702,013 (GRCm39) |
C96* |
probably null |
Het |
Mroh1 |
T |
C |
15: 76,335,340 (GRCm39) |
S1365P |
probably benign |
Het |
Mrpl12 |
A |
G |
11: 120,376,268 (GRCm39) |
|
probably benign |
Het |
Mthfsd |
C |
A |
8: 121,825,478 (GRCm39) |
V270F |
probably benign |
Het |
Nbas |
T |
A |
12: 13,374,337 (GRCm39) |
V555D |
probably damaging |
Het |
Pcdhb16 |
T |
C |
18: 37,611,412 (GRCm39) |
V124A |
probably damaging |
Het |
Pla2g10 |
T |
A |
16: 13,533,382 (GRCm39) |
Y131F |
possibly damaging |
Het |
Plec |
T |
C |
15: 76,075,614 (GRCm39) |
|
probably benign |
Het |
Polr2b |
T |
A |
5: 77,474,408 (GRCm39) |
V415E |
possibly damaging |
Het |
Pou6f1 |
G |
A |
15: 100,485,717 (GRCm39) |
Q106* |
probably null |
Het |
Ptprd |
T |
C |
4: 75,865,276 (GRCm39) |
|
probably benign |
Het |
Rad54b |
G |
A |
4: 11,609,480 (GRCm39) |
|
probably benign |
Het |
Rspo1 |
G |
A |
4: 124,885,190 (GRCm39) |
R22Q |
probably benign |
Het |
Scn7a |
A |
G |
2: 66,544,381 (GRCm39) |
V370A |
probably benign |
Het |
Sec1 |
A |
G |
7: 45,328,315 (GRCm39) |
V244A |
probably damaging |
Het |
Serac1 |
A |
G |
17: 6,115,212 (GRCm39) |
|
probably benign |
Het |
Steap3 |
G |
A |
1: 120,155,460 (GRCm39) |
R500C |
probably damaging |
Het |
Stk10 |
A |
G |
11: 32,553,722 (GRCm39) |
T580A |
probably benign |
Het |
Tpo |
C |
T |
12: 30,154,022 (GRCm39) |
G228R |
probably damaging |
Het |
Tpx2 |
T |
C |
2: 152,735,603 (GRCm39) |
F744L |
probably damaging |
Het |
Ube3b |
G |
T |
5: 114,546,278 (GRCm39) |
|
probably null |
Het |
Vmn2r84 |
A |
G |
10: 130,230,062 (GRCm39) |
S17P |
probably damaging |
Het |
Vps13d |
A |
T |
4: 144,891,264 (GRCm39) |
|
probably benign |
Het |
Zfp532 |
T |
A |
18: 65,818,698 (GRCm39) |
S851R |
probably benign |
Het |
Zfp623 |
G |
A |
15: 75,819,058 (GRCm39) |
E5K |
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 |
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 |
2013-01-20 |