Incidental Mutation 'R1975:Slco1b2'
ID |
221563 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slco1b2
|
Ensembl Gene |
ENSMUSG00000030236 |
Gene Name |
solute carrier organic anion transporter family, member 1b2 |
Synonyms |
Slc21a6, Oatp1b2, 7330442B20Rik, mlst-1, Slc21a10 |
MMRRC Submission |
039988-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1975 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
141575244-141632372 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 141628951 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 551
(Y551F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144747
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042812]
[ENSMUST00000203597]
|
AlphaFold |
Q9JJL3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042812
AA Change: Y586F
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000044326 Gene: ENSMUSG00000030236 AA Change: Y586F
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
27 |
443 |
6.1e-21 |
PFAM |
KAZAL
|
457 |
501 |
8.81e-4 |
SMART |
transmembrane domain
|
620 |
642 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160179
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000203597
AA Change: Y551F
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000144747 Gene: ENSMUSG00000030236 AA Change: Y551F
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
27 |
405 |
8.4e-19 |
PFAM |
KAZAL
|
422 |
466 |
5.7e-6 |
SMART |
transmembrane domain
|
497 |
519 |
N/A |
INTRINSIC |
transmembrane domain
|
534 |
556 |
N/A |
INTRINSIC |
transmembrane domain
|
585 |
607 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.2566 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
Validation Efficiency |
96% (71/74) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. [provided by RefSeq, Feb 2012] PHENOTYPE: Mice homozygous for a null mutation display slight abnormalities in blood chemistry and are resistant to injury induced by some classes of hepatotoxins. [provided by MGI curators]
|
Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Targeted, other(2) |
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad12 |
T |
C |
5: 121,742,322 (GRCm39) |
T429A |
probably benign |
Het |
Afmid |
A |
C |
11: 117,727,300 (GRCm39) |
I275L |
probably benign |
Het |
Aimp1 |
A |
C |
3: 132,382,860 (GRCm39) |
D5E |
possibly damaging |
Het |
Aldob |
G |
A |
4: 49,538,171 (GRCm39) |
A319V |
probably benign |
Het |
Ankar |
C |
T |
1: 72,697,600 (GRCm39) |
V1068I |
possibly damaging |
Het |
Ccr2 |
C |
T |
9: 123,906,830 (GRCm39) |
S370L |
probably benign |
Het |
Chrnb4 |
A |
G |
9: 54,942,102 (GRCm39) |
Y391H |
probably damaging |
Het |
Clip1 |
A |
G |
5: 123,761,281 (GRCm39) |
M873T |
possibly damaging |
Het |
Cspg4 |
G |
C |
9: 56,797,762 (GRCm39) |
G1409R |
probably damaging |
Het |
Dnah17 |
A |
T |
11: 117,987,362 (GRCm39) |
L1320* |
probably null |
Het |
Dock4 |
T |
C |
12: 40,829,641 (GRCm39) |
|
probably benign |
Het |
Eml4 |
T |
C |
17: 83,717,622 (GRCm39) |
S65P |
probably benign |
Het |
Fblim1 |
A |
T |
4: 141,312,175 (GRCm39) |
D183E |
probably damaging |
Het |
Foxn1 |
T |
C |
11: 78,256,763 (GRCm39) |
|
probably benign |
Het |
Gm973 |
A |
T |
1: 59,601,930 (GRCm39) |
T515S |
possibly damaging |
Het |
Hdac7 |
G |
A |
15: 97,704,386 (GRCm39) |
Q495* |
probably null |
Het |
Hipk3 |
T |
C |
2: 104,301,518 (GRCm39) |
I225V |
probably benign |
Het |
Hrc |
A |
T |
7: 44,985,638 (GRCm39) |
D263V |
probably damaging |
Het |
Hs6st3 |
T |
C |
14: 119,375,888 (GRCm39) |
I21T |
probably benign |
Het |
Il15ra |
A |
G |
2: 11,728,334 (GRCm39) |
T133A |
possibly damaging |
Het |
Krt78 |
T |
C |
15: 101,854,603 (GRCm39) |
*1069W |
probably null |
Het |
Lama3 |
T |
A |
18: 12,586,920 (GRCm39) |
M761K |
probably damaging |
Het |
Lonp1 |
T |
C |
17: 56,922,068 (GRCm39) |
T771A |
possibly damaging |
Het |
Macf1 |
T |
C |
4: 123,383,005 (GRCm39) |
T1320A |
probably damaging |
Het |
Mark3 |
A |
T |
12: 111,581,875 (GRCm39) |
I115L |
probably damaging |
Het |
Mcph1 |
T |
G |
8: 18,739,081 (GRCm39) |
|
probably benign |
Het |
Med23 |
T |
A |
10: 24,786,664 (GRCm39) |
N923K |
probably benign |
Het |
Msrb2 |
T |
G |
2: 19,398,032 (GRCm39) |
Y97D |
probably damaging |
Het |
Muc6 |
C |
T |
7: 141,234,368 (GRCm39) |
G708S |
probably damaging |
Het |
Mylk |
T |
C |
16: 34,700,673 (GRCm39) |
|
probably null |
Het |
Nfrkb |
T |
A |
9: 31,325,980 (GRCm39) |
V1141E |
possibly damaging |
Het |
Obscn |
T |
C |
11: 58,958,555 (GRCm39) |
E3675G |
probably damaging |
Het |
Or11h7 |
T |
A |
14: 50,890,821 (GRCm39) |
N42K |
probably damaging |
Het |
Or2l5 |
G |
A |
16: 19,333,586 (GRCm39) |
P267S |
probably damaging |
Het |
Or2t6 |
A |
T |
14: 14,175,446 (GRCm38) |
V212E |
probably damaging |
Het |
Or51aa2 |
A |
T |
7: 103,188,201 (GRCm39) |
F80Y |
probably damaging |
Het |
Or52z14 |
A |
G |
7: 103,253,219 (GRCm39) |
|
probably null |
Het |
Or5ac21 |
T |
C |
16: 59,124,091 (GRCm39) |
S193P |
probably damaging |
Het |
Or8k21 |
C |
G |
2: 86,145,498 (GRCm39) |
G44A |
probably damaging |
Het |
Pan2 |
T |
C |
10: 128,156,282 (GRCm39) |
V1171A |
probably damaging |
Het |
Pdgfc |
C |
T |
3: 81,116,552 (GRCm39) |
T302I |
probably damaging |
Het |
Pkhd1l1 |
G |
T |
15: 44,393,109 (GRCm39) |
V1815F |
probably damaging |
Het |
Pnpt1 |
A |
G |
11: 29,091,256 (GRCm39) |
I337V |
probably benign |
Het |
Psma8 |
T |
G |
18: 14,864,033 (GRCm39) |
|
probably null |
Het |
Rbl2 |
T |
C |
8: 91,812,090 (GRCm39) |
S220P |
probably benign |
Het |
Rere |
T |
A |
4: 150,700,190 (GRCm39) |
D1091E |
probably damaging |
Het |
Rpa1 |
A |
G |
11: 75,197,002 (GRCm39) |
C540R |
probably damaging |
Het |
Sema3d |
T |
A |
5: 12,613,285 (GRCm39) |
V454E |
probably damaging |
Het |
Sema3d |
T |
C |
5: 12,634,965 (GRCm39) |
V677A |
probably benign |
Het |
Sgk2 |
A |
G |
2: 162,846,080 (GRCm39) |
N207S |
probably benign |
Het |
Sirpb1a |
T |
C |
3: 15,444,141 (GRCm39) |
I370V |
probably benign |
Het |
Slc22a19 |
A |
G |
19: 7,661,224 (GRCm39) |
|
probably benign |
Het |
Slc26a1 |
T |
A |
5: 108,820,338 (GRCm39) |
D287V |
probably damaging |
Het |
Slc36a4 |
T |
A |
9: 15,645,506 (GRCm39) |
V311D |
probably damaging |
Het |
Slco2a1 |
T |
A |
9: 102,956,653 (GRCm39) |
Y488* |
probably null |
Het |
Stab2 |
A |
C |
10: 86,732,360 (GRCm39) |
|
probably null |
Het |
Strn |
T |
C |
17: 78,999,928 (GRCm39) |
|
probably null |
Het |
Tbxas1 |
A |
G |
6: 38,925,575 (GRCm39) |
|
probably benign |
Het |
Thumpd3 |
A |
G |
6: 113,032,838 (GRCm39) |
N192S |
possibly damaging |
Het |
Tns3 |
T |
A |
11: 8,385,738 (GRCm39) |
I1386F |
probably benign |
Het |
Treml4 |
T |
A |
17: 48,579,821 (GRCm39) |
V219E |
probably damaging |
Het |
Triobp |
T |
C |
15: 78,850,908 (GRCm39) |
V354A |
probably benign |
Het |
Tspan8 |
A |
G |
10: 115,680,035 (GRCm39) |
I217V |
probably benign |
Het |
Tub |
G |
A |
7: 108,627,042 (GRCm39) |
G314R |
possibly damaging |
Het |
Ube3b |
C |
T |
5: 114,537,926 (GRCm39) |
T339M |
possibly damaging |
Het |
Vmn2r43 |
A |
G |
7: 8,258,550 (GRCm39) |
I221T |
possibly damaging |
Het |
Vmn2r5 |
C |
T |
3: 64,411,642 (GRCm39) |
E309K |
probably damaging |
Het |
Zfp110 |
C |
T |
7: 12,582,429 (GRCm39) |
T359I |
probably benign |
Het |
Zfp322a |
A |
T |
13: 23,541,074 (GRCm39) |
C223S |
probably damaging |
Het |
Zfp512b |
G |
A |
2: 181,228,878 (GRCm39) |
R696* |
probably null |
Het |
|
Other mutations in Slco1b2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00703:Slco1b2
|
APN |
6 |
141,601,078 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01583:Slco1b2
|
APN |
6 |
141,609,398 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL01909:Slco1b2
|
APN |
6 |
141,594,312 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01943:Slco1b2
|
APN |
6 |
141,622,012 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01952:Slco1b2
|
APN |
6 |
141,616,956 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02186:Slco1b2
|
APN |
6 |
141,580,271 (GRCm39) |
splice site |
probably benign |
|
IGL02309:Slco1b2
|
APN |
6 |
141,618,007 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02352:Slco1b2
|
APN |
6 |
141,631,251 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02359:Slco1b2
|
APN |
6 |
141,631,251 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02524:Slco1b2
|
APN |
6 |
141,616,798 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02701:Slco1b2
|
APN |
6 |
141,631,271 (GRCm39) |
missense |
probably benign |
0.35 |
IGL02962:Slco1b2
|
APN |
6 |
141,594,279 (GRCm39) |
missense |
probably damaging |
0.99 |
3-1:Slco1b2
|
UTSW |
6 |
141,615,189 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03052:Slco1b2
|
UTSW |
6 |
141,594,311 (GRCm39) |
missense |
probably benign |
0.13 |
R0112:Slco1b2
|
UTSW |
6 |
141,616,837 (GRCm39) |
missense |
probably benign |
0.30 |
R0116:Slco1b2
|
UTSW |
6 |
141,615,114 (GRCm39) |
missense |
probably benign |
0.22 |
R0515:Slco1b2
|
UTSW |
6 |
141,615,136 (GRCm39) |
missense |
possibly damaging |
0.74 |
R0831:Slco1b2
|
UTSW |
6 |
141,631,172 (GRCm39) |
missense |
probably benign |
0.01 |
R0965:Slco1b2
|
UTSW |
6 |
141,631,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R1115:Slco1b2
|
UTSW |
6 |
141,628,980 (GRCm39) |
missense |
probably benign |
0.03 |
R1452:Slco1b2
|
UTSW |
6 |
141,617,926 (GRCm39) |
missense |
probably benign |
0.02 |
R1630:Slco1b2
|
UTSW |
6 |
141,602,547 (GRCm39) |
missense |
probably damaging |
0.99 |
R1885:Slco1b2
|
UTSW |
6 |
141,628,951 (GRCm39) |
missense |
probably damaging |
0.96 |
R1886:Slco1b2
|
UTSW |
6 |
141,628,951 (GRCm39) |
missense |
probably damaging |
0.96 |
R2394:Slco1b2
|
UTSW |
6 |
141,615,100 (GRCm39) |
missense |
probably damaging |
0.99 |
R3408:Slco1b2
|
UTSW |
6 |
141,621,982 (GRCm39) |
missense |
probably benign |
0.01 |
R3793:Slco1b2
|
UTSW |
6 |
141,622,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R4560:Slco1b2
|
UTSW |
6 |
141,616,893 (GRCm39) |
missense |
probably benign |
0.15 |
R4561:Slco1b2
|
UTSW |
6 |
141,616,893 (GRCm39) |
missense |
probably benign |
0.15 |
R4563:Slco1b2
|
UTSW |
6 |
141,616,893 (GRCm39) |
missense |
probably benign |
0.15 |
R4807:Slco1b2
|
UTSW |
6 |
141,615,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R4820:Slco1b2
|
UTSW |
6 |
141,631,158 (GRCm39) |
missense |
probably benign |
0.05 |
R4861:Slco1b2
|
UTSW |
6 |
141,616,948 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4861:Slco1b2
|
UTSW |
6 |
141,616,948 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4889:Slco1b2
|
UTSW |
6 |
141,602,469 (GRCm39) |
intron |
probably benign |
|
R4914:Slco1b2
|
UTSW |
6 |
141,615,096 (GRCm39) |
missense |
probably benign |
0.14 |
R4918:Slco1b2
|
UTSW |
6 |
141,615,096 (GRCm39) |
missense |
probably benign |
0.14 |
R4977:Slco1b2
|
UTSW |
6 |
141,603,283 (GRCm39) |
missense |
probably benign |
0.01 |
R5607:Slco1b2
|
UTSW |
6 |
141,631,312 (GRCm39) |
missense |
probably benign |
|
R6082:Slco1b2
|
UTSW |
6 |
141,609,396 (GRCm39) |
missense |
probably benign |
0.08 |
R6118:Slco1b2
|
UTSW |
6 |
141,603,236 (GRCm39) |
missense |
probably benign |
0.03 |
R6522:Slco1b2
|
UTSW |
6 |
141,601,145 (GRCm39) |
critical splice donor site |
probably null |
|
R7054:Slco1b2
|
UTSW |
6 |
141,617,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R7182:Slco1b2
|
UTSW |
6 |
141,602,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R7763:Slco1b2
|
UTSW |
6 |
141,621,950 (GRCm39) |
nonsense |
probably null |
|
R8891:Slco1b2
|
UTSW |
6 |
141,628,993 (GRCm39) |
missense |
probably benign |
0.34 |
R8977:Slco1b2
|
UTSW |
6 |
141,628,980 (GRCm39) |
missense |
probably benign |
|
R9012:Slco1b2
|
UTSW |
6 |
141,602,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R9106:Slco1b2
|
UTSW |
6 |
141,617,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R9176:Slco1b2
|
UTSW |
6 |
141,598,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R9366:Slco1b2
|
UTSW |
6 |
141,602,552 (GRCm39) |
nonsense |
probably null |
|
R9425:Slco1b2
|
UTSW |
6 |
141,603,249 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9648:Slco1b2
|
UTSW |
6 |
141,602,655 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9652:Slco1b2
|
UTSW |
6 |
141,594,358 (GRCm39) |
critical splice donor site |
probably null |
|
R9798:Slco1b2
|
UTSW |
6 |
141,601,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CACATCCAAAGGTGGTATAATATTTGG -3'
(R):5'- ATGAGATTGCCTGATACAATTCTG -3'
Sequencing Primer
(F):5'- CAGATTTTCATTCTTCAGTGTG -3'
(R):5'- TTATGGACACTACATACATGTGGGGC -3'
|
Posted On |
2014-08-25 |