Incidental Mutation 'R7182:Slco1b2'
| ID |
559043 |
| 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 |
045234-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7182 (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 G
at 141602656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 203
(Y203C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042812]
[ENSMUST00000203597]
|
| AlphaFold |
Q9JJL3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042812
AA Change: Y203C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044326
Gene: ENSMUSG00000030236
AA Change: Y203C
| 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: Y203C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144747
Gene: ENSMUSG00000030236
AA Change: Y203C
| 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 |
0.7814 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
96% (70/73) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,667,578 (GRCm39) |
V323A |
unknown |
Het |
| AC117241.1 |
A |
G |
17: 7,620,087 (GRCm39) |
V158A |
unknown |
Het |
| Acadm |
A |
G |
3: 153,647,518 (GRCm39) |
|
probably null |
Het |
| Adcy10 |
T |
G |
1: 165,371,039 (GRCm39) |
|
probably null |
Het |
| Aldh6a1 |
C |
T |
12: 84,488,605 (GRCm39) |
A94T |
probably benign |
Het |
| Ano2 |
T |
A |
6: 125,767,256 (GRCm39) |
L229Q |
probably damaging |
Het |
| Cacna1h |
C |
T |
17: 25,596,629 (GRCm39) |
R1828H |
probably damaging |
Het |
| Ccdc33 |
A |
T |
9: 57,941,456 (GRCm39) |
|
probably null |
Het |
| Cep112 |
A |
C |
11: 108,573,670 (GRCm39) |
D6A |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,733,250 (GRCm39) |
F1373S |
unknown |
Het |
| Cog5 |
T |
C |
12: 31,735,707 (GRCm39) |
L158P |
probably damaging |
Het |
| Col6a3 |
G |
A |
1: 90,731,400 (GRCm39) |
Q1618* |
probably null |
Het |
| Dlg5 |
A |
G |
14: 24,294,924 (GRCm39) |
V3A |
|
Het |
| Dnah7a |
T |
A |
1: 53,659,620 (GRCm39) |
|
probably null |
Het |
| Dpp10 |
A |
T |
1: 123,268,880 (GRCm39) |
H716Q |
probably benign |
Het |
| Epor |
A |
G |
9: 21,874,625 (GRCm39) |
F35L |
probably benign |
Het |
| Ergic1 |
A |
T |
17: 26,873,856 (GRCm39) |
Y92F |
|
Het |
| Fam98a |
G |
A |
17: 75,846,013 (GRCm39) |
Q273* |
probably null |
Het |
| Fhdc1 |
G |
A |
3: 84,356,157 (GRCm39) |
T429I |
probably damaging |
Het |
| Fmnl2 |
T |
A |
2: 52,997,453 (GRCm39) |
L468Q |
unknown |
Het |
| Fmnl3 |
C |
T |
15: 99,219,663 (GRCm39) |
R695Q |
probably damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,811,333 (GRCm39) |
M271V |
probably damaging |
Het |
| Garin4 |
C |
T |
1: 190,895,548 (GRCm39) |
R365H |
probably damaging |
Het |
| Gk5 |
G |
T |
9: 96,001,579 (GRCm39) |
V26L |
possibly damaging |
Het |
| Gm14412 |
A |
C |
2: 177,007,408 (GRCm39) |
N162K |
probably benign |
Het |
| Gm3604 |
T |
C |
13: 62,519,689 (GRCm39) |
D22G |
probably damaging |
Het |
| Gm5565 |
G |
T |
5: 146,094,865 (GRCm39) |
H294N |
probably benign |
Het |
| Hsf2 |
T |
A |
10: 57,381,272 (GRCm39) |
D287E |
possibly damaging |
Het |
| Ift70b |
A |
T |
2: 75,768,293 (GRCm39) |
Y153* |
probably null |
Het |
| Impdh2 |
G |
A |
9: 108,440,407 (GRCm39) |
R231H |
possibly damaging |
Het |
| Irak3 |
T |
C |
10: 120,002,416 (GRCm39) |
H234R |
probably damaging |
Het |
| Lrba |
GTTCCCTTC |
GTTC |
3: 86,648,765 (GRCm39) |
|
probably null |
Het |
| Lrch3 |
T |
A |
16: 32,814,149 (GRCm39) |
D551E |
probably benign |
Het |
| Manba |
A |
T |
3: 135,273,274 (GRCm39) |
N736I |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,451,812 (GRCm39) |
D234G |
possibly damaging |
Het |
| Mdk |
C |
A |
2: 91,761,197 (GRCm39) |
K121N |
unknown |
Het |
| Mfn1 |
T |
A |
3: 32,618,369 (GRCm39) |
L526Q |
probably damaging |
Het |
| Mfsd2b |
A |
G |
12: 4,916,157 (GRCm39) |
|
probably null |
Het |
| Mnat1 |
G |
T |
12: 73,277,452 (GRCm39) |
E233* |
probably null |
Het |
| Mtmr4 |
T |
C |
11: 87,495,431 (GRCm39) |
|
probably null |
Het |
| Mtrf1 |
A |
G |
14: 79,660,904 (GRCm39) |
E432G |
possibly damaging |
Het |
| Muc5b |
C |
T |
7: 141,396,382 (GRCm39) |
R165C |
unknown |
Het |
| Naip6 |
T |
A |
13: 100,452,657 (GRCm39) |
I135F |
probably benign |
Het |
| Nod2 |
A |
G |
8: 89,390,460 (GRCm39) |
T256A |
probably benign |
Het |
| Notch4 |
T |
A |
17: 34,802,473 (GRCm39) |
V1298E |
probably damaging |
Het |
| Nudc |
G |
T |
4: 133,261,776 (GRCm39) |
D169E |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,925,927 (GRCm39) |
I5602N |
probably damaging |
Het |
| Or5b114-ps1 |
G |
A |
19: 13,353,208 (GRCm39) |
G294E |
unknown |
Het |
| Osbpl10 |
G |
A |
9: 114,896,319 (GRCm39) |
D18N |
probably damaging |
Het |
| Pigk |
G |
A |
3: 152,428,188 (GRCm39) |
V72I |
possibly damaging |
Het |
| Prl8a6 |
C |
T |
13: 27,621,153 (GRCm39) |
E26K |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,381,553 (GRCm39) |
Y318C |
possibly damaging |
Het |
| Rab13 |
A |
G |
3: 90,132,070 (GRCm39) |
D159G |
possibly damaging |
Het |
| Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,774,643 (GRCm39) |
H1171R |
probably benign |
Het |
| Scn4a |
T |
A |
11: 106,221,134 (GRCm39) |
I842F |
probably benign |
Het |
| Scnm1 |
A |
T |
3: 95,041,165 (GRCm39) |
N14K |
possibly damaging |
Het |
| Serinc1 |
A |
T |
10: 57,400,457 (GRCm39) |
I137N |
probably benign |
Het |
| Slc30a3 |
T |
C |
5: 31,244,169 (GRCm39) |
Q371R |
probably benign |
Het |
| Slc30a3 |
A |
C |
5: 31,247,014 (GRCm39) |
M103R |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,857,565 (GRCm39) |
C589S |
probably damaging |
Het |
| Spty2d1 |
A |
T |
7: 46,648,271 (GRCm39) |
D219E |
probably benign |
Het |
| Svep1 |
A |
T |
4: 58,043,991 (GRCm39) |
S3552T |
probably benign |
Het |
| Tmem62 |
A |
G |
2: 120,835,224 (GRCm39) |
I516M |
probably benign |
Het |
| Trim61 |
A |
T |
8: 65,466,266 (GRCm39) |
S332T |
probably damaging |
Het |
| Trmt10b |
A |
C |
4: 45,308,520 (GRCm39) |
T227P |
probably benign |
Het |
| Trpc3 |
T |
C |
3: 36,709,258 (GRCm39) |
Q406R |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,485,740 (GRCm39) |
Y2950F |
probably benign |
Het |
| Usp32 |
C |
T |
11: 84,930,996 (GRCm39) |
G478D |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,091,758 (GRCm39) |
L527P |
possibly damaging |
Het |
| Wdr73 |
A |
G |
7: 80,543,426 (GRCm39) |
V163A |
possibly 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 |
|
|
R7054:Slco1b2
|
UTSW |
6 |
141,617,974 (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'- AGCCAAGTTTGTGGAATTTCTG -3'
(R):5'- TTCAGTCAGAATCAAAGCGCAC -3'
Sequencing Primer
(F):5'- CAAGTTTGTGGAATTTCTGGTATTTG -3'
(R):5'- CAGAACATGCTCTTCTGGCATACATG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation