Incidental Mutation 'R7054:Slco1b2'
| ID |
547770 |
| 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 |
045151-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7054 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
141575244-141632372 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 141617974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 440
(T440S)
|
| 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: T475S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044326
Gene: ENSMUSG00000030236
AA Change: T475S
| 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 damaging
Transcript: ENSMUST00000203597
AA Change: T440S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144747
Gene: ENSMUSG00000030236
AA Change: T440S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
94% (67/71) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
A |
4: 88,786,486 (GRCm39) |
H44L |
unknown |
Het |
| Abcc3 |
T |
C |
11: 94,256,051 (GRCm39) |
K478R |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,736,952 (GRCm39) |
|
probably benign |
Het |
| Apod |
A |
G |
16: 31,129,950 (GRCm39) |
V2A |
probably benign |
Het |
| Armh4 |
C |
A |
14: 50,011,155 (GRCm39) |
S184I |
probably damaging |
Het |
| Aspg |
T |
A |
12: 112,092,824 (GRCm39) |
D530E |
probably damaging |
Het |
| Atxn7 |
A |
T |
14: 14,100,878 (GRCm38) |
T855S |
probably benign |
Het |
| Blmh |
G |
C |
11: 76,859,451 (GRCm39) |
G351R |
probably damaging |
Het |
| Cc2d2a |
C |
T |
5: 43,857,321 (GRCm39) |
R454* |
probably null |
Het |
| Cenpp |
T |
C |
13: 49,619,233 (GRCm39) |
E188G |
probably damaging |
Het |
| Cimip3 |
A |
G |
17: 47,748,114 (GRCm39) |
|
probably null |
Het |
| Creg2 |
T |
C |
1: 39,662,376 (GRCm39) |
E252G |
probably benign |
Het |
| Dot1l |
A |
G |
10: 80,622,857 (GRCm39) |
Y636C |
probably damaging |
Het |
| Dpy30 |
A |
G |
17: 74,614,835 (GRCm39) |
I36T |
probably benign |
Het |
| Eed |
A |
G |
7: 89,613,935 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
A |
G |
2: 113,195,353 (GRCm39) |
D351G |
unknown |
Het |
| Fra10ac1 |
C |
T |
19: 38,212,567 (GRCm39) |
|
probably benign |
Het |
| Gdpd4 |
T |
A |
7: 97,623,136 (GRCm39) |
I249N |
probably damaging |
Het |
| Glb1l2 |
A |
T |
9: 26,676,423 (GRCm39) |
V600D |
probably null |
Het |
| Gm13889 |
A |
T |
2: 93,787,459 (GRCm39) |
|
probably benign |
Het |
| Gm17654 |
T |
A |
14: 43,813,327 (GRCm39) |
N188Y |
|
Het |
| Gm3327 |
T |
C |
14: 44,363,732 (GRCm39) |
F112S |
|
Het |
| H2-Ab1 |
T |
C |
17: 34,482,316 (GRCm39) |
S11P |
probably benign |
Het |
| Hcn4 |
T |
C |
9: 58,763,000 (GRCm39) |
S522P |
unknown |
Het |
| Hfm1 |
T |
C |
5: 107,043,909 (GRCm39) |
T576A |
probably benign |
Het |
| Hoxa1 |
A |
G |
6: 52,135,180 (GRCm39) |
S8P |
probably damaging |
Het |
| Hoxd13 |
A |
G |
2: 74,499,369 (GRCm39) |
Y239C |
probably damaging |
Het |
| Ifih1 |
T |
A |
2: 62,440,859 (GRCm39) |
I485L |
probably benign |
Het |
| Ift52 |
G |
A |
2: 162,871,716 (GRCm39) |
V183M |
probably damaging |
Het |
| Ikbkb |
A |
G |
8: 23,161,658 (GRCm39) |
V410A |
possibly damaging |
Het |
| Il22ra1 |
G |
A |
4: 135,478,473 (GRCm39) |
V515I |
probably benign |
Het |
| Klk1b3 |
A |
T |
7: 43,850,863 (GRCm39) |
I132F |
probably damaging |
Het |
| Limk2 |
T |
C |
11: 3,305,448 (GRCm39) |
T206A |
possibly damaging |
Het |
| Llph |
A |
T |
10: 120,067,240 (GRCm39) |
|
probably benign |
Het |
| Lrrc26 |
T |
A |
2: 25,180,087 (GRCm39) |
D29E |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,007,191 (GRCm39) |
|
probably null |
Het |
| Mageb3 |
A |
T |
2: 121,784,973 (GRCm39) |
V243E |
probably damaging |
Het |
| Mfhas1 |
T |
C |
8: 36,055,792 (GRCm39) |
V89A |
probably benign |
Het |
| Mycbp2 |
G |
A |
14: 103,393,534 (GRCm39) |
T2899I |
possibly damaging |
Het |
| Nckap5 |
A |
T |
1: 126,186,449 (GRCm39) |
|
probably null |
Het |
| Ncor1 |
T |
C |
11: 62,275,619 (GRCm39) |
D530G |
probably null |
Het |
| Or10ag55-ps1 |
T |
A |
2: 87,114,775 (GRCm39) |
M47K |
probably benign |
Het |
| Or56a3b |
C |
T |
7: 104,771,170 (GRCm39) |
R169* |
probably null |
Het |
| Pax4 |
A |
G |
6: 28,446,322 (GRCm39) |
I57T |
probably damaging |
Het |
| Peg12 |
T |
C |
7: 62,113,711 (GRCm39) |
I129V |
possibly damaging |
Het |
| Pex6 |
G |
A |
17: 47,031,447 (GRCm39) |
A416T |
probably benign |
Het |
| Pgghg |
G |
A |
7: 140,524,631 (GRCm39) |
R326H |
probably benign |
Het |
| Pgk2 |
T |
A |
17: 40,519,366 (GRCm39) |
M21L |
probably benign |
Het |
| Polh |
A |
T |
17: 46,509,642 (GRCm39) |
W64R |
probably benign |
Het |
| Rassf7 |
T |
A |
7: 140,797,556 (GRCm39) |
H256Q |
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,265,258 (GRCm39) |
M1184T |
probably benign |
Het |
| Ror1 |
A |
T |
4: 100,299,436 (GRCm39) |
E936D |
probably benign |
Het |
| Skic3 |
G |
A |
13: 76,283,079 (GRCm39) |
A769T |
probably damaging |
Het |
| Specc1 |
T |
A |
11: 62,008,604 (GRCm39) |
V40E |
probably damaging |
Het |
| Tarbp1 |
T |
A |
8: 127,201,234 (GRCm39) |
S191C |
possibly damaging |
Het |
| Timm22 |
A |
G |
11: 76,298,071 (GRCm39) |
E14G |
possibly damaging |
Het |
| Tpp2 |
T |
A |
1: 44,022,318 (GRCm39) |
D905E |
probably damaging |
Het |
| Trav7-5 |
T |
C |
14: 53,768,756 (GRCm39) |
L108P |
probably damaging |
Het |
| Ttc9b |
A |
G |
7: 27,353,667 (GRCm39) |
T106A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,545,012 (GRCm39) |
S32697G |
probably damaging |
Het |
| Usp17la |
T |
G |
7: 104,510,514 (GRCm39) |
L373R |
probably benign |
Het |
| Vmn1r113 |
A |
G |
7: 20,521,427 (GRCm39) |
N73S |
probably benign |
Het |
| Vmn1r42 |
T |
C |
6: 89,822,051 (GRCm39) |
T173A |
possibly damaging |
Het |
| Vmn2r106 |
A |
G |
17: 20,499,182 (GRCm39) |
V243A |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,800,569 (GRCm39) |
D591V |
probably damaging |
Het |
| Zc3h13 |
T |
C |
14: 75,559,227 (GRCm39) |
S379P |
probably benign |
Het |
| Zfp870 |
T |
C |
17: 33,102,456 (GRCm39) |
Y292C |
probably damaging |
Het |
| Zfp977 |
A |
T |
7: 42,229,786 (GRCm39) |
N246K |
possibly damaging |
Het |
| Zp1 |
G |
A |
19: 10,896,104 (GRCm39) |
T207M |
probably damaging |
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 |
|
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 |
|
|
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'- TGCACGTATCTCTAATCAGCTC -3'
(R):5'- CCTGGTGTTAACAACTGAAGATC -3'
Sequencing Primer
(F):5'- GTATCTCTAATCAGCTCTTTCTCATG -3'
(R):5'- GGTGTTAACAACTGAAGATCACATAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation