Incidental Mutation 'R9725:Slco2b1'
| ID |
730991 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9725 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
99307011-99360547 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99335265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 172
(S172P)
|
| 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: S162P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000032985
Gene: ENSMUSG00000030737
AA Change: S162P
| 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: S162P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102701
Gene: ENSMUSG00000030737
AA Change: S162P
| 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: S172P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102703
Gene: ENSMUSG00000030737
AA Change: S172P
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
G |
16: 14,290,797 (GRCm39) |
I1469S |
possibly damaging |
Het |
| Aff1 |
A |
T |
5: 103,994,931 (GRCm39) |
D1043V |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,991,607 (GRCm39) |
I4297N |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,981,533 (GRCm39) |
N939S |
probably benign |
Het |
| Camk2b |
T |
C |
11: 5,922,634 (GRCm39) |
N465S |
possibly damaging |
Het |
| Carns1 |
A |
G |
19: 4,216,548 (GRCm39) |
S545P |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,432,561 (GRCm39) |
Q121L |
probably benign |
Het |
| Cfap221 |
G |
T |
1: 119,862,352 (GRCm39) |
Q577K |
probably benign |
Het |
| Dlg1 |
T |
G |
16: 31,665,683 (GRCm39) |
L680R |
probably benign |
Het |
| Fahd2a |
T |
C |
2: 127,278,304 (GRCm39) |
E301G |
probably benign |
Het |
| Fn3k |
T |
A |
11: 121,341,191 (GRCm39) |
L282H |
probably damaging |
Het |
| Fubp1 |
T |
A |
3: 151,927,823 (GRCm39) |
I424N |
probably damaging |
Het |
| Gkn1 |
A |
G |
6: 87,323,289 (GRCm39) |
S175P |
probably damaging |
Het |
| Gm12695 |
A |
G |
4: 96,616,466 (GRCm39) |
S456P |
probably damaging |
Het |
| Kcna5 |
T |
C |
6: 126,511,844 (GRCm39) |
T95A |
probably benign |
Het |
| Kcnj13 |
G |
T |
1: 87,314,737 (GRCm39) |
T83K |
probably benign |
Het |
| Kif19b |
G |
A |
5: 140,460,651 (GRCm39) |
R439H |
probably benign |
Het |
| Klra10 |
C |
T |
6: 130,252,849 (GRCm39) |
G142R |
probably benign |
Het |
| Krt14 |
T |
C |
11: 100,097,902 (GRCm39) |
N127S |
probably damaging |
Het |
| Layn |
T |
C |
9: 50,968,775 (GRCm39) |
M323V |
probably benign |
Het |
| Lrrd1 |
A |
G |
5: 3,901,147 (GRCm39) |
D484G |
probably benign |
Het |
| Lrrtm2 |
A |
G |
18: 35,345,788 (GRCm39) |
C505R |
probably damaging |
Het |
| Ms4a14 |
A |
T |
19: 11,280,729 (GRCm39) |
S610T |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,856,841 (GRCm39) |
N1282S |
probably benign |
Het |
| Naip5 |
A |
T |
13: 100,358,784 (GRCm39) |
D817E |
possibly damaging |
Het |
| Ndufs2 |
A |
G |
1: 171,074,629 (GRCm39) |
L10P |
possibly damaging |
Het |
| Nxn |
T |
C |
11: 76,169,362 (GRCm39) |
D139G |
probably damaging |
Het |
| Or3a1b |
A |
G |
11: 74,012,612 (GRCm39) |
T166A |
probably benign |
Het |
| Or5b105 |
G |
A |
19: 13,080,272 (GRCm39) |
T132I |
possibly damaging |
Het |
| Or6aa1 |
A |
C |
7: 86,043,973 (GRCm39) |
H244Q |
probably damaging |
Het |
| Pcdhb22 |
G |
T |
18: 37,652,794 (GRCm39) |
V164F |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,084,992 (GRCm39) |
T417A |
probably damaging |
Het |
| Prcp |
G |
T |
7: 92,567,035 (GRCm39) |
|
probably null |
Het |
| Rasgrp2 |
A |
G |
19: 6,454,694 (GRCm39) |
Y178C |
probably damaging |
Het |
| Rasgrp2 |
A |
G |
19: 6,463,907 (GRCm39) |
N535S |
probably benign |
Het |
| Rgs20 |
G |
T |
1: 4,980,793 (GRCm39) |
Y208* |
probably null |
Het |
| Slc39a10 |
A |
G |
1: 46,849,223 (GRCm39) |
C798R |
probably damaging |
Het |
| Styk1 |
GTCTCTTCATGATT |
GT |
6: 131,278,610 (GRCm39) |
|
probably benign |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Tmc2 |
T |
A |
2: 130,089,881 (GRCm39) |
I622N |
probably damaging |
Het |
| Trav16n |
A |
G |
14: 53,588,559 (GRCm39) |
S5G |
probably benign |
Het |
| Tti1 |
C |
T |
2: 157,849,304 (GRCm39) |
R645H |
probably benign |
Het |
| Ttll3 |
A |
G |
6: 113,386,114 (GRCm39) |
D649G |
probably damaging |
Het |
| Vcam1 |
C |
T |
3: 115,922,287 (GRCm39) |
V79I |
possibly damaging |
Het |
| Vmn1r211 |
T |
C |
13: 23,036,506 (GRCm39) |
I54V |
probably benign |
Het |
| Vmn1r238 |
A |
G |
18: 3,122,577 (GRCm39) |
F279S |
probably benign |
Het |
| Vps33a |
A |
T |
5: 123,669,135 (GRCm39) |
W589R |
possibly damaging |
Het |
| Zic1 |
A |
G |
9: 91,246,875 (GRCm39) |
S66P |
probably 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAATGTAGAGGGGTGAGTTGC -3'
(R):5'- AACTGTGTGGTCAGACTGTG -3'
Sequencing Primer
(F):5'- CTATGGTGGGCAAAGTCGTCAATG -3'
(R):5'- TCAGACTGTGAGGCTAAGCTG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation