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 |
Genbank: NM_175316; MGI: 1351872 |
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0076 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
99657804-99711340 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 99685501 bp (GRCm38)
|
| 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: ENSMUST00000208225
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208713
|
| 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: 120,373,685 (GRCm38) |
|
probably benign |
Het |
| Acpp |
A |
G |
9: 104,324,218 (GRCm38) |
|
probably benign |
Het |
| Ada |
T |
A |
2: 163,727,603 (GRCm38) |
|
probably benign |
Het |
| Ankrd17 |
T |
A |
5: 90,244,406 (GRCm38) |
K1693* |
probably null |
Het |
| Arhgef38 |
T |
A |
3: 133,160,746 (GRCm38) |
H210L |
possibly damaging |
Het |
| Car10 |
G |
A |
11: 93,490,597 (GRCm38) |
E129K |
possibly damaging |
Het |
| Cask |
A |
G |
X: 13,678,274 (GRCm38) |
|
probably benign |
Het |
| Cd19 |
T |
C |
7: 126,410,862 (GRCm38) |
D406G |
probably damaging |
Het |
| Cd93 |
T |
C |
2: 148,442,136 (GRCm38) |
D430G |
probably benign |
Het |
| Cds1 |
T |
C |
5: 101,817,840 (GRCm38) |
|
probably benign |
Het |
| Cerkl |
A |
T |
2: 79,343,289 (GRCm38) |
S259T |
possibly damaging |
Het |
| Cog8 |
T |
C |
8: 107,054,133 (GRCm38) |
I164M |
possibly damaging |
Het |
| Col4a1 |
G |
A |
8: 11,218,713 (GRCm38) |
P1009L |
probably damaging |
Het |
| Col9a1 |
G |
A |
1: 24,237,497 (GRCm38) |
|
probably null |
Het |
| Dcc |
G |
A |
18: 71,321,046 (GRCm38) |
Q1241* |
probably null |
Het |
| Dock3 |
A |
C |
9: 106,911,486 (GRCm38) |
|
probably benign |
Het |
| Dus1l |
A |
T |
11: 120,792,808 (GRCm38) |
|
probably benign |
Het |
| Dvl2 |
G |
A |
11: 70,008,100 (GRCm38) |
E438K |
probably damaging |
Het |
| Eif3g |
A |
G |
9: 20,897,753 (GRCm38) |
F85S |
probably damaging |
Het |
| Fam234b |
A |
G |
6: 135,227,226 (GRCm38) |
M456V |
probably benign |
Het |
| Fbxo47 |
G |
A |
11: 97,857,655 (GRCm38) |
|
probably benign |
Het |
| Fyb2 |
A |
G |
4: 104,945,464 (GRCm38) |
T188A |
possibly damaging |
Het |
| Gm11437 |
T |
C |
11: 84,148,636 (GRCm38) |
T288A |
possibly damaging |
Het |
| Gm5546 |
T |
A |
3: 104,353,132 (GRCm38) |
|
noncoding transcript |
Het |
| Gmfb |
C |
A |
14: 46,817,455 (GRCm38) |
A11S |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,190,705 (GRCm38) |
|
probably benign |
Het |
| Ifitm6 |
T |
A |
7: 141,016,007 (GRCm38) |
R124S |
possibly damaging |
Het |
| Il17rd |
T |
A |
14: 27,094,854 (GRCm38) |
L172Q |
probably damaging |
Het |
| Il4 |
A |
T |
11: 53,613,914 (GRCm38) |
L13Q |
probably damaging |
Het |
| Kif2b |
A |
G |
11: 91,575,909 (GRCm38) |
M516T |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,830,059 (GRCm38) |
|
probably benign |
Het |
| Maats1 |
G |
A |
16: 38,302,684 (GRCm38) |
Q661* |
probably null |
Het |
| Mark1-ps1 |
T |
A |
17: 53,947,877 (GRCm38) |
|
noncoding transcript |
Het |
| Mndal |
G |
T |
1: 173,874,447 (GRCm38) |
C96* |
probably null |
Het |
| Mroh1 |
T |
C |
15: 76,451,140 (GRCm38) |
S1365P |
probably benign |
Het |
| Mrpl12 |
A |
G |
11: 120,485,442 (GRCm38) |
|
probably benign |
Het |
| Mthfsd |
C |
A |
8: 121,098,739 (GRCm38) |
V270F |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,324,336 (GRCm38) |
V555D |
probably damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,478,359 (GRCm38) |
V124A |
probably damaging |
Het |
| Pla2g10 |
T |
A |
16: 13,715,518 (GRCm38) |
Y131F |
possibly damaging |
Het |
| Plec |
T |
C |
15: 76,191,414 (GRCm38) |
|
probably benign |
Het |
| Polr2b |
T |
A |
5: 77,326,561 (GRCm38) |
V415E |
possibly damaging |
Het |
| Pou6f1 |
G |
A |
15: 100,587,836 (GRCm38) |
Q106* |
probably null |
Het |
| Ptprd |
T |
C |
4: 75,947,039 (GRCm38) |
|
probably benign |
Het |
| Rad54b |
G |
A |
4: 11,609,480 (GRCm38) |
|
probably benign |
Het |
| Rspo1 |
G |
A |
4: 124,991,397 (GRCm38) |
R22Q |
probably benign |
Het |
| Scn7a |
A |
G |
2: 66,714,037 (GRCm38) |
V370A |
probably benign |
Het |
| Sec1 |
A |
G |
7: 45,678,891 (GRCm38) |
V244A |
probably damaging |
Het |
| Serac1 |
A |
G |
17: 6,064,937 (GRCm38) |
|
probably benign |
Het |
| Steap3 |
G |
A |
1: 120,227,730 (GRCm38) |
R500C |
probably damaging |
Het |
| Stk10 |
A |
G |
11: 32,603,722 (GRCm38) |
T580A |
probably benign |
Het |
| Tpo |
C |
T |
12: 30,104,023 (GRCm38) |
G228R |
probably damaging |
Het |
| Tpx2 |
T |
C |
2: 152,893,683 (GRCm38) |
F744L |
probably damaging |
Het |
| Ube3b |
G |
T |
5: 114,408,217 (GRCm38) |
|
probably null |
Het |
| Vmn2r84 |
A |
G |
10: 130,394,193 (GRCm38) |
S17P |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 145,164,694 (GRCm38) |
|
probably benign |
Het |
| Zfp532 |
T |
A |
18: 65,685,627 (GRCm38) |
S851R |
probably benign |
Het |
| Zfp623 |
G |
A |
15: 75,947,209 (GRCm38) |
E5K |
probably benign |
Het |
|
| Other mutations in Slco2b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00435:Slco2b1
|
APN |
7 |
99,660,052 (GRCm38) |
nonsense |
probably null |
|
|
IGL00469:Slco2b1
|
APN |
7 |
99,660,111 (GRCm38) |
missense |
probably benign |
0.21 |
|
IGL02625:Slco2b1
|
APN |
7 |
99,660,123 (GRCm38) |
splice site |
probably null |
|
|
IGL03164:Slco2b1
|
APN |
7 |
99,685,536 (GRCm38) |
missense |
probably damaging |
0.97 |
|
3-1:Slco2b1
|
UTSW |
7 |
99,685,493 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0370:Slco2b1
|
UTSW |
7 |
99,690,437 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0469:Slco2b1
|
UTSW |
7 |
99,661,536 (GRCm38) |
missense |
probably benign |
0.30 |
|
R0510:Slco2b1
|
UTSW |
7 |
99,661,536 (GRCm38) |
missense |
probably benign |
0.30 |
|
R1456:Slco2b1
|
UTSW |
7 |
99,664,907 (GRCm38) |
missense |
probably null |
|
|
R1868:Slco2b1
|
UTSW |
7 |
99,686,036 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2046:Slco2b1
|
UTSW |
7 |
99,690,479 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4030:Slco2b1
|
UTSW |
7 |
99,682,825 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4166:Slco2b1
|
UTSW |
7 |
99,660,126 (GRCm38) |
missense |
probably benign |
0.30 |
|
R4406:Slco2b1
|
UTSW |
7 |
99,664,889 (GRCm38) |
missense |
probably benign |
0.22 |
|
R4643:Slco2b1
|
UTSW |
7 |
99,667,007 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4770:Slco2b1
|
UTSW |
7 |
99,670,949 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4927:Slco2b1
|
UTSW |
7 |
99,685,988 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5033:Slco2b1
|
UTSW |
7 |
99,660,049 (GRCm38) |
missense |
probably benign |
0.14 |
|
R5166:Slco2b1
|
UTSW |
7 |
99,689,013 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R5306:Slco2b1
|
UTSW |
7 |
99,688,991 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R5358:Slco2b1
|
UTSW |
7 |
99,660,044 (GRCm38) |
missense |
unknown |
|
|
R5389:Slco2b1
|
UTSW |
7 |
99,685,925 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5874:Slco2b1
|
UTSW |
7 |
99,667,094 (GRCm38) |
missense |
probably benign |
|
|
R6151:Slco2b1
|
UTSW |
7 |
99,690,563 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R6163:Slco2b1
|
UTSW |
7 |
99,688,899 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6192:Slco2b1
|
UTSW |
7 |
99,685,572 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6489:Slco2b1
|
UTSW |
7 |
99,690,555 (GRCm38) |
nonsense |
probably null |
|
|
R6651:Slco2b1
|
UTSW |
7 |
99,667,169 (GRCm38) |
missense |
probably benign |
0.09 |
|
R7135:Slco2b1
|
UTSW |
7 |
99,695,063 (GRCm38) |
missense |
probably null |
0.03 |
|
R7322:Slco2b1
|
UTSW |
7 |
99,691,848 (GRCm38) |
missense |
not run |
|
|
R7353:Slco2b1
|
UTSW |
7 |
99,690,557 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R7474:Slco2b1
|
UTSW |
7 |
99,664,832 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7888:Slco2b1
|
UTSW |
7 |
99,688,843 (GRCm38) |
missense |
unknown |
|
|
R8121:Slco2b1
|
UTSW |
7 |
99,685,553 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8751:Slco2b1
|
UTSW |
7 |
99,660,052 (GRCm38) |
nonsense |
probably null |
|
|
R9031:Slco2b1
|
UTSW |
7 |
99,689,007 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9068:Slco2b1
|
UTSW |
7 |
99,670,964 (GRCm38) |
missense |
probably benign |
0.17 |
|
R9725:Slco2b1
|
UTSW |
7 |
99,686,058 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-01-20 |
Incidental Mutation