Incidental Mutation 'R8121:Slco2b1'
| ID |
631502 |
| 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 |
067550-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8121 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
99307011-99360547 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 99334760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 237
(T237M)
|
| 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 benign
Transcript: ENSMUST00000032985
AA Change: T227M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000032985
Gene: ENSMUSG00000030737
AA Change: T227M
| 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: T227M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102701
Gene: ENSMUSG00000030737
AA Change: T227M
| 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: T237M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102703
Gene: ENSMUSG00000030737
AA Change: T237M
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.1%
- 20x: 97.3%
|
| Validation Efficiency |
100% (60/60) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
A |
T |
6: 83,138,893 (GRCm39) |
M273L |
probably benign |
Het |
| Abi3bp |
A |
T |
16: 56,452,241 (GRCm39) |
K912N |
unknown |
Het |
| Arfgap2 |
T |
C |
2: 91,096,028 (GRCm39) |
F62L |
probably benign |
Het |
| Arhgap45 |
A |
G |
10: 79,853,909 (GRCm39) |
E141G |
probably damaging |
Het |
| Atraid |
G |
A |
5: 31,211,642 (GRCm39) |
|
probably null |
Het |
| Cd101 |
G |
A |
3: 100,927,898 (GRCm39) |
A65V |
probably damaging |
Het |
| Cd177 |
A |
G |
7: 24,459,067 (GRCm39) |
V114A |
probably benign |
Het |
| Cdh6 |
T |
C |
15: 13,044,757 (GRCm39) |
N455S |
probably damaging |
Het |
| Cdk14 |
A |
T |
5: 5,277,195 (GRCm39) |
S145T |
possibly damaging |
Het |
| Ces1h |
T |
C |
8: 94,080,104 (GRCm39) |
E470G |
unknown |
Het |
| Cfap58 |
A |
G |
19: 48,017,543 (GRCm39) |
Y801C |
probably benign |
Het |
| Clec2d |
C |
T |
6: 129,161,847 (GRCm39) |
T160M |
probably benign |
Het |
| Cryz |
A |
G |
3: 154,327,382 (GRCm39) |
I269V |
probably benign |
Het |
| Ctdp1 |
A |
T |
18: 80,499,223 (GRCm39) |
Y240N |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,909,212 (GRCm39) |
Y1275C |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,908,201 (GRCm39) |
I2385T |
probably benign |
Het |
| Dpp8 |
A |
G |
9: 64,985,362 (GRCm39) |
M807V |
probably benign |
Het |
| Entpd3 |
T |
A |
9: 120,384,720 (GRCm39) |
I99N |
probably damaging |
Het |
| Fbxw11 |
A |
G |
11: 32,670,646 (GRCm39) |
E204G |
possibly damaging |
Het |
| Fscn1 |
T |
C |
5: 142,946,616 (GRCm39) |
M138T |
probably damaging |
Het |
| Gm5114 |
T |
A |
7: 39,057,552 (GRCm39) |
Q689L |
probably benign |
Het |
| Iqgap2 |
T |
C |
13: 95,861,076 (GRCm39) |
N350S |
probably benign |
Het |
| Kcnj10 |
T |
A |
1: 172,196,809 (GRCm39) |
C108S |
probably damaging |
Het |
| Krtap10-4 |
G |
A |
10: 77,662,840 (GRCm39) |
R13C |
unknown |
Het |
| Lmo7 |
T |
C |
14: 102,163,736 (GRCm39) |
I1527T |
unknown |
Het |
| Lrrc17 |
A |
G |
5: 21,775,329 (GRCm39) |
K297R |
probably benign |
Het |
| Ltb4r1 |
G |
A |
14: 56,005,579 (GRCm39) |
R294H |
probably damaging |
Het |
| Macc1 |
A |
G |
12: 119,410,324 (GRCm39) |
D364G |
probably damaging |
Het |
| Mavs |
A |
C |
2: 131,087,395 (GRCm39) |
T298P |
probably damaging |
Het |
| Myh8 |
G |
T |
11: 67,180,647 (GRCm39) |
A628S |
probably benign |
Het |
| Neurl4 |
A |
T |
11: 69,799,056 (GRCm39) |
|
probably null |
Het |
| Nicn1 |
C |
A |
9: 108,172,304 (GRCm39) |
T213K |
probably damaging |
Het |
| Nptx1 |
G |
A |
11: 119,433,492 (GRCm39) |
T369I |
probably damaging |
Het |
| Nt5c1a |
T |
C |
4: 123,102,235 (GRCm39) |
S54P |
probably damaging |
Het |
| Nup210l |
G |
A |
3: 90,022,428 (GRCm39) |
R132Q |
probably damaging |
Het |
| Or2b11 |
A |
T |
11: 59,461,870 (GRCm39) |
I232N |
probably damaging |
Het |
| Or4k41 |
A |
G |
2: 111,279,505 (GRCm39) |
T7A |
probably benign |
Het |
| Or4p18 |
A |
T |
2: 88,233,040 (GRCm39) |
F79L |
probably benign |
Het |
| Or7g22 |
G |
A |
9: 19,048,988 (GRCm39) |
G233E |
probably damaging |
Het |
| Pip5k1b |
A |
T |
19: 24,337,355 (GRCm39) |
I311N |
probably damaging |
Het |
| Pkdrej |
C |
T |
15: 85,699,655 (GRCm39) |
V2094I |
probably benign |
Het |
| Pla2g2f |
A |
G |
4: 138,479,621 (GRCm39) |
Y179H |
probably damaging |
Het |
| Plekha3 |
A |
T |
2: 76,516,992 (GRCm39) |
T115S |
probably damaging |
Het |
| Ppp4c |
A |
G |
7: 126,386,496 (GRCm39) |
L167P |
probably damaging |
Het |
| Pramel28 |
T |
A |
4: 143,691,611 (GRCm39) |
S371C |
probably benign |
Het |
| Rarg |
A |
G |
15: 102,148,393 (GRCm39) |
I238T |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,531,203 (GRCm39) |
I558N |
probably damaging |
Het |
| Sema3a |
C |
A |
5: 13,649,215 (GRCm39) |
H655N |
probably damaging |
Het |
| Serpinb6c |
T |
C |
13: 34,064,201 (GRCm39) |
M285V |
probably benign |
Het |
| Setx |
T |
A |
2: 29,035,046 (GRCm39) |
S510R |
possibly damaging |
Het |
| Sgcz |
A |
G |
8: 37,990,457 (GRCm39) |
S299P |
probably damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,032,403 (GRCm39) |
F368I |
probably benign |
Het |
| Slc7a9 |
C |
A |
7: 35,153,542 (GRCm39) |
T181K |
probably damaging |
Het |
| Spg11 |
A |
G |
2: 121,900,348 (GRCm39) |
|
probably null |
Het |
| Tbc1d22b |
G |
T |
17: 29,791,945 (GRCm39) |
G225V |
probably damaging |
Het |
| Tbcd |
A |
G |
11: 121,487,969 (GRCm39) |
|
probably null |
Het |
| Unc93a |
T |
C |
17: 13,328,560 (GRCm39) |
Y431C |
probably benign |
Het |
| Vmn1r65 |
C |
T |
7: 6,011,464 (GRCm39) |
V257I |
possibly damaging |
Het |
| Vmn2r124 |
A |
T |
17: 18,282,433 (GRCm39) |
T154S |
probably benign |
Het |
| Wnk2 |
A |
T |
13: 49,214,415 (GRCm39) |
L1487* |
probably null |
Het |
| Zfp853 |
G |
A |
5: 143,274,018 (GRCm39) |
A549V |
probably damaging |
Het |
| Zfp936 |
C |
T |
7: 42,839,547 (GRCm39) |
T338I |
possibly damaging |
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 |
|
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 |
|
|
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'- GACTTCCATATGGGTTCCTGG -3'
(R):5'- TGACGACTGTTCTTGCCATG -3'
Sequencing Primer
(F):5'- GTGTGGGGCCTCCTGGAAG -3'
(R):5'- CGACTGTTCTTGCCATGAAAGATTG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation