Incidental Mutation 'R4643:Slco2b1'
ID |
351734 |
Institutional Source |
Beutler Lab
|
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 # |
R4643 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
99307011-99360547 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 99316214 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 439
(V439M)
|
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: V429M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000032985 Gene: ENSMUSG00000030737 AA Change: V429M
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: V429M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000102701 Gene: ENSMUSG00000030737 AA Change: V429M
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: V439M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000102703 Gene: ENSMUSG00000030737 AA Change: V439M
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 |
noncoding transcript
Transcript: ENSMUST00000148972
|
Predicted Effect |
probably benign
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
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 |
4833420G17Rik |
A |
G |
13: 119,611,396 (GRCm39) |
N398D |
probably damaging |
Het |
Adamtsl4 |
G |
A |
3: 95,591,929 (GRCm39) |
A58V |
possibly damaging |
Het |
Anapc2 |
T |
A |
2: 25,166,406 (GRCm39) |
V105E |
probably benign |
Het |
C3ar1 |
A |
T |
6: 122,827,933 (GRCm39) |
C95S |
probably damaging |
Het |
Ccdc87 |
G |
A |
19: 4,891,877 (GRCm39) |
G790R |
probably damaging |
Het |
Cenpf |
A |
T |
1: 189,391,786 (GRCm39) |
M682K |
probably benign |
Het |
Cyp2j13 |
T |
C |
4: 95,945,161 (GRCm39) |
Q289R |
possibly damaging |
Het |
Dclk2 |
A |
T |
3: 86,713,487 (GRCm39) |
M453K |
possibly damaging |
Het |
Dscam |
G |
A |
16: 96,486,501 (GRCm39) |
T1058M |
probably damaging |
Het |
Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
Grip1 |
A |
G |
10: 119,856,006 (GRCm39) |
N659S |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,487,118 (GRCm39) |
K3371R |
possibly damaging |
Het |
Il1a |
T |
A |
2: 129,146,623 (GRCm39) |
T157S |
probably benign |
Het |
Il23r |
A |
G |
6: 67,400,977 (GRCm39) |
V451A |
probably benign |
Het |
Iqch |
T |
C |
9: 63,502,084 (GRCm39) |
T40A |
probably benign |
Het |
Irag2 |
A |
T |
6: 145,113,786 (GRCm39) |
D318V |
probably benign |
Het |
Kazald1 |
G |
T |
19: 45,066,788 (GRCm39) |
V196L |
probably benign |
Het |
L1td1 |
T |
C |
4: 98,626,120 (GRCm39) |
S772P |
probably damaging |
Het |
Lgi1 |
A |
T |
19: 38,289,158 (GRCm39) |
D145V |
probably damaging |
Het |
Lrp12 |
A |
T |
15: 39,735,418 (GRCm39) |
L838Q |
probably damaging |
Het |
Mrgprf |
C |
A |
7: 144,862,242 (GRCm39) |
P268Q |
probably benign |
Het |
Myef2 |
T |
C |
2: 124,958,731 (GRCm39) |
K66R |
possibly damaging |
Het |
Myo3b |
A |
G |
2: 70,069,186 (GRCm39) |
D475G |
possibly damaging |
Het |
Numa1 |
C |
G |
7: 101,649,872 (GRCm39) |
|
probably null |
Het |
Or6c214 |
T |
C |
10: 129,590,824 (GRCm39) |
E165G |
probably damaging |
Het |
Prdm8 |
T |
C |
5: 98,332,446 (GRCm39) |
S116P |
possibly damaging |
Het |
Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
R3hcc1l |
G |
T |
19: 42,551,239 (GRCm39) |
V79F |
probably benign |
Het |
Rasal1 |
C |
T |
5: 120,817,029 (GRCm39) |
T779I |
probably benign |
Het |
Scaper |
A |
C |
9: 55,745,463 (GRCm39) |
F596V |
probably damaging |
Het |
Slco6c1 |
A |
T |
1: 96,990,149 (GRCm39) |
D680E |
probably benign |
Het |
Smurf1 |
A |
T |
5: 144,816,179 (GRCm39) |
F725L |
probably damaging |
Het |
Snd1 |
A |
G |
6: 28,880,248 (GRCm39) |
E674G |
probably benign |
Het |
Srcap |
C |
T |
7: 127,140,948 (GRCm39) |
P1515L |
probably damaging |
Het |
Sycp2l |
A |
G |
13: 41,296,941 (GRCm39) |
M341V |
probably benign |
Het |
Tmprss6 |
T |
A |
15: 78,329,556 (GRCm39) |
I492F |
probably damaging |
Het |
Trip10 |
G |
T |
17: 57,568,658 (GRCm39) |
E416* |
probably null |
Het |
Tstd2 |
T |
C |
4: 46,129,297 (GRCm39) |
D177G |
possibly damaging |
Het |
Ugt1a5 |
A |
T |
1: 88,094,147 (GRCm39) |
N125I |
possibly damaging |
Het |
Vmn2r7 |
G |
T |
3: 64,623,825 (GRCm39) |
S165Y |
probably damaging |
Het |
Zfp663 |
A |
T |
2: 165,194,925 (GRCm39) |
H431Q |
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 |
|
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 |
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'- AAAGGGCTTGCATAGGGCTTTG -3'
(R):5'- TGCACCTCATCCATGGTAGC -3'
Sequencing Primer
(F):5'- TAGGAGAGGTAGGTGGCTCACTG -3'
(R):5'- TCATCCATGGTAGCGGGCATG -3'
|
Posted On |
2015-10-08 |