Incidental Mutation 'R1452:Slco1b2'
ID |
161069 |
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 |
039507-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1452 (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 141617926 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 424
(I424F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144747
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042812]
[ENSMUST00000203597]
|
AlphaFold |
Q9JJL3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042812
AA Change: I459F
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000044326 Gene: ENSMUSG00000030236 AA Change: I459F
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 |
probably benign
Transcript: ENSMUST00000203597
AA Change: I424F
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000144747 Gene: ENSMUSG00000030236 AA Change: I424F
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 |
0.0898 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 87.5%
|
Validation Efficiency |
99% (70/71) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,655,015 (GRCm39) |
I1446M |
probably benign |
Het |
Acaca |
T |
A |
11: 84,185,885 (GRCm39) |
|
probably benign |
Het |
Adgre4 |
A |
T |
17: 56,091,996 (GRCm39) |
E85D |
probably benign |
Het |
Akt3 |
A |
T |
1: 176,958,633 (GRCm39) |
Y26N |
possibly damaging |
Het |
Arl15 |
T |
C |
13: 114,104,319 (GRCm39) |
V132A |
probably benign |
Het |
Atp6v1h |
A |
G |
1: 5,168,360 (GRCm39) |
|
probably benign |
Het |
Atrip |
T |
A |
9: 108,901,727 (GRCm39) |
D110V |
probably damaging |
Het |
Bahcc1 |
T |
G |
11: 120,173,065 (GRCm39) |
|
probably benign |
Het |
Cd53 |
C |
T |
3: 106,676,275 (GRCm39) |
G31S |
probably damaging |
Het |
Cdk14 |
T |
C |
5: 4,938,927 (GRCm39) |
S404G |
possibly damaging |
Het |
Cers3 |
A |
T |
7: 66,433,152 (GRCm39) |
K156N |
probably damaging |
Het |
Colgalt2 |
C |
A |
1: 152,379,904 (GRCm39) |
L448M |
probably damaging |
Het |
Cox15 |
G |
T |
19: 43,735,344 (GRCm39) |
T141K |
probably damaging |
Het |
Csnk2a2 |
C |
T |
8: 96,184,003 (GRCm39) |
|
probably benign |
Het |
Cyp2b10 |
A |
T |
7: 25,624,813 (GRCm39) |
|
probably benign |
Het |
Cyp2c55 |
A |
G |
19: 38,999,534 (GRCm39) |
Y80C |
probably damaging |
Het |
Depdc1a |
A |
G |
3: 159,232,328 (GRCm39) |
Y693C |
possibly damaging |
Het |
Des |
T |
C |
1: 75,340,121 (GRCm39) |
S343P |
probably damaging |
Het |
Dync1i2 |
T |
C |
2: 71,080,207 (GRCm39) |
|
probably benign |
Het |
Eif3m |
T |
A |
2: 104,837,122 (GRCm39) |
Q199L |
probably damaging |
Het |
Emsy |
G |
T |
7: 98,249,881 (GRCm39) |
T802K |
probably damaging |
Het |
Endov |
A |
G |
11: 119,382,651 (GRCm39) |
T33A |
probably damaging |
Het |
Epb41l5 |
G |
A |
1: 119,476,896 (GRCm39) |
T728I |
probably damaging |
Het |
Fbxo39 |
A |
G |
11: 72,209,228 (GRCm39) |
I363V |
probably benign |
Het |
Gm8674 |
C |
T |
13: 50,054,553 (GRCm39) |
|
noncoding transcript |
Het |
Il6st |
T |
A |
13: 112,617,998 (GRCm39) |
N137K |
possibly damaging |
Het |
Inf2 |
A |
G |
12: 112,567,778 (GRCm39) |
N136S |
probably damaging |
Het |
Iqub |
A |
T |
6: 24,491,558 (GRCm39) |
I376N |
probably benign |
Het |
Kansl3 |
A |
G |
1: 36,393,874 (GRCm39) |
|
probably benign |
Het |
Kbtbd2 |
A |
T |
6: 56,758,909 (GRCm39) |
H71Q |
probably damaging |
Het |
Lgals8 |
G |
T |
13: 12,468,208 (GRCm39) |
Y140* |
probably null |
Het |
Mab21l4 |
T |
C |
1: 93,080,661 (GRCm39) |
Y415C |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,387,791 (GRCm39) |
I924L |
probably benign |
Het |
Mcoln2 |
A |
T |
3: 145,887,569 (GRCm39) |
T329S |
possibly damaging |
Het |
Mex3d |
A |
T |
10: 80,217,354 (GRCm39) |
L621Q |
probably damaging |
Het |
Mmut |
A |
G |
17: 41,248,359 (GRCm39) |
|
probably benign |
Het |
Ncor1 |
T |
C |
11: 62,225,457 (GRCm39) |
H1038R |
probably damaging |
Het |
Neb |
A |
G |
2: 52,161,309 (GRCm39) |
|
probably null |
Het |
Ngrn |
A |
G |
7: 79,914,520 (GRCm39) |
T224A |
probably benign |
Het |
Nin |
G |
A |
12: 70,064,424 (GRCm39) |
R2019* |
probably null |
Het |
Nphp4 |
C |
G |
4: 152,631,475 (GRCm39) |
Q792E |
probably damaging |
Het |
Or13e8 |
C |
T |
4: 43,696,823 (GRCm39) |
V117M |
probably benign |
Het |
Or2z9 |
C |
T |
8: 72,854,020 (GRCm39) |
Q139* |
probably null |
Het |
Or4c3d |
C |
T |
2: 89,882,015 (GRCm39) |
V218I |
possibly damaging |
Het |
Or5d38 |
C |
T |
2: 87,954,655 (GRCm39) |
V225I |
probably benign |
Het |
Or8k3 |
T |
A |
2: 86,058,799 (GRCm39) |
N172I |
probably damaging |
Het |
Pde4dip |
C |
A |
3: 97,631,418 (GRCm39) |
V1164L |
probably damaging |
Het |
Plppr1 |
A |
G |
4: 49,301,067 (GRCm39) |
|
probably benign |
Het |
Pole2 |
G |
A |
12: 69,254,703 (GRCm39) |
L381F |
probably benign |
Het |
Ppp2r5e |
A |
G |
12: 75,516,310 (GRCm39) |
|
probably benign |
Het |
Prim2 |
T |
A |
1: 33,669,485 (GRCm39) |
E163D |
probably benign |
Het |
Prrc2b |
A |
T |
2: 32,084,997 (GRCm39) |
D296V |
probably damaging |
Het |
Pter |
A |
G |
2: 12,983,432 (GRCm39) |
|
probably benign |
Het |
Resf1 |
A |
T |
6: 149,228,130 (GRCm39) |
K392I |
probably damaging |
Het |
Robo2 |
C |
A |
16: 73,758,798 (GRCm39) |
V662L |
probably damaging |
Het |
Sirpd |
G |
T |
3: 15,397,212 (GRCm39) |
T24K |
unknown |
Het |
Snx29 |
A |
T |
16: 11,449,335 (GRCm39) |
H260L |
probably damaging |
Het |
Stil |
A |
G |
4: 114,896,392 (GRCm39) |
N959S |
probably benign |
Het |
Taar8c |
A |
T |
10: 23,977,508 (GRCm39) |
D101E |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trpc6 |
G |
A |
9: 8,653,148 (GRCm39) |
M573I |
probably damaging |
Het |
Tsr1 |
A |
T |
11: 74,790,425 (GRCm39) |
D171V |
probably benign |
Het |
Ube4b |
T |
C |
4: 149,455,626 (GRCm39) |
T348A |
probably damaging |
Het |
Vmn1r85 |
A |
T |
7: 12,818,808 (GRCm39) |
I112N |
probably damaging |
Het |
Vps36 |
A |
G |
8: 22,708,226 (GRCm39) |
|
probably null |
Het |
Wdfy3 |
G |
A |
5: 102,085,604 (GRCm39) |
A630V |
possibly damaging |
Het |
Wdsub1 |
A |
T |
2: 59,707,144 (GRCm39) |
D14E |
probably null |
Het |
Ylpm1 |
T |
C |
12: 85,077,157 (GRCm39) |
I1294T |
possibly damaging |
Het |
Zdhhc17 |
A |
G |
10: 110,790,936 (GRCm39) |
F378L |
probably benign |
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 |
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 |
R1975: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'- AGCTTCCTAAGGCTATGCAGACCC -3'
(R):5'- TCTGATGGTTCCAAGCAGGATTTCG -3'
Sequencing Primer
(F):5'- ttcttttctctttcctttccttctg -3'
(R):5'- AAGCTTTGCTAACTTCCTGGTG -3'
|
Posted On |
2014-03-14 |