Incidental Mutation 'R9012:Slco1b2'
| ID |
685686 |
| 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 |
068842-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9012 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
141575244-141632372 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 141602554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 169
(V169D)
|
| 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: V169D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044326
Gene: ENSMUSG00000030236
AA Change: V169D
| 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: V169D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144747
Gene: ENSMUSG00000030236
AA Change: V169D
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (61/61) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agt |
T |
C |
8: 125,290,954 (GRCm39) |
N118D |
probably benign |
Het |
| Apol8 |
T |
C |
15: 77,634,324 (GRCm39) |
D84G |
probably benign |
Het |
| Arl6ip5 |
T |
A |
6: 97,187,838 (GRCm39) |
D19E |
probably benign |
Het |
| B3gnt3 |
G |
T |
8: 72,145,673 (GRCm39) |
H232N |
probably damaging |
Het |
| Btbd10 |
T |
C |
7: 112,921,964 (GRCm39) |
K347R |
probably damaging |
Het |
| Capn5 |
C |
T |
7: 97,814,050 (GRCm39) |
|
probably benign |
Het |
| Ccdc181 |
C |
T |
1: 164,110,062 (GRCm39) |
R390W |
probably damaging |
Het |
| Cdc42bpa |
T |
C |
1: 179,859,077 (GRCm39) |
V93A |
|
Het |
| Cfap91 |
T |
C |
16: 38,122,335 (GRCm39) |
E712G |
probably damaging |
Het |
| Clcn1 |
A |
G |
6: 42,268,567 (GRCm39) |
I191V |
possibly damaging |
Het |
| Coro1c |
T |
C |
5: 113,988,737 (GRCm39) |
D202G |
probably damaging |
Het |
| Cul9 |
A |
G |
17: 46,854,447 (GRCm39) |
I85T |
probably benign |
Het |
| Cyp2c55 |
C |
T |
19: 39,030,560 (GRCm39) |
T464I |
probably benign |
Het |
| Dlgap1 |
G |
A |
17: 70,823,182 (GRCm39) |
E56K |
possibly damaging |
Het |
| Dnajc6 |
T |
C |
4: 101,470,156 (GRCm39) |
F298L |
probably damaging |
Het |
| E130311K13Rik |
A |
T |
3: 63,822,934 (GRCm39) |
W237R |
probably damaging |
Het |
| Efcab3 |
G |
A |
11: 104,711,347 (GRCm39) |
|
probably null |
Het |
| Fes |
T |
A |
7: 80,032,884 (GRCm39) |
D287V |
possibly damaging |
Het |
| Fstl5 |
G |
T |
3: 76,567,027 (GRCm39) |
W557L |
probably damaging |
Het |
| Gad2 |
A |
G |
2: 22,580,263 (GRCm39) |
N555D |
possibly damaging |
Het |
| Gm10277 |
C |
T |
11: 77,676,848 (GRCm39) |
R41K |
unknown |
Het |
| Gm21834 |
T |
C |
17: 58,049,162 (GRCm39) |
E18G |
probably null |
Het |
| Hnrnpul2 |
T |
C |
19: 8,801,829 (GRCm39) |
F346L |
possibly damaging |
Het |
| Hspa4 |
A |
T |
11: 53,159,402 (GRCm39) |
V524E |
probably benign |
Het |
| Ikbke |
T |
C |
1: 131,201,190 (GRCm39) |
I207V |
probably damaging |
Het |
| Iqsec3 |
T |
C |
6: 121,389,996 (GRCm39) |
I492V |
unknown |
Het |
| Itsn1 |
C |
A |
16: 91,645,849 (GRCm39) |
F846L |
unknown |
Het |
| Ldhal6b |
A |
T |
17: 5,467,942 (GRCm39) |
Y331N |
probably damaging |
Het |
| Lrrc37a |
T |
G |
11: 103,389,978 (GRCm39) |
T1816P |
probably benign |
Het |
| Lzts1 |
C |
T |
8: 69,593,550 (GRCm39) |
R19H |
probably damaging |
Het |
| Mast4 |
T |
A |
13: 102,934,606 (GRCm39) |
T338S |
probably benign |
Het |
| Mst1r |
A |
G |
9: 107,791,960 (GRCm39) |
E832G |
probably benign |
Het |
| Myom1 |
T |
G |
17: 71,407,103 (GRCm39) |
D1173E |
probably benign |
Het |
| Nlrp9c |
T |
A |
7: 26,074,733 (GRCm39) |
I821F |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,021,423 (GRCm39) |
K806E |
probably benign |
Het |
| Or2ag13 |
T |
C |
7: 106,313,115 (GRCm39) |
M258V |
probably benign |
Het |
| Or4c120 |
A |
G |
2: 89,000,929 (GRCm39) |
I209T |
possibly damaging |
Het |
| Or6c215 |
A |
C |
10: 129,637,471 (GRCm39) |
S308A |
probably benign |
Het |
| Palld |
T |
A |
8: 62,173,697 (GRCm39) |
S321C |
possibly damaging |
Het |
| Pank4 |
C |
A |
4: 155,062,847 (GRCm39) |
|
probably benign |
Het |
| Prr35 |
A |
G |
17: 26,166,685 (GRCm39) |
L284P |
probably benign |
Het |
| Psg26 |
T |
A |
7: 18,216,596 (GRCm39) |
H81L |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,489,411 (GRCm39) |
E905K |
probably benign |
Het |
| Siglecg |
T |
A |
7: 43,060,523 (GRCm39) |
L301Q |
probably damaging |
Het |
| Slc25a15 |
A |
G |
8: 22,867,878 (GRCm39) |
W301R |
probably benign |
Het |
| Sned1 |
T |
C |
1: 93,212,320 (GRCm39) |
V1174A |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,982,491 (GRCm39) |
V363A |
probably damaging |
Het |
| Sppl3 |
C |
A |
5: 115,226,987 (GRCm39) |
P239T |
probably benign |
Het |
| Stox1 |
A |
T |
10: 62,500,611 (GRCm39) |
S650T |
probably benign |
Het |
| Tbc1d9b |
A |
G |
11: 50,040,688 (GRCm39) |
T402A |
probably benign |
Het |
| Tmem104 |
A |
T |
11: 115,092,144 (GRCm39) |
E84D |
probably benign |
Het |
| Tox4 |
T |
C |
14: 52,523,208 (GRCm39) |
V56A |
probably benign |
Het |
| Trav7-6 |
A |
G |
14: 53,954,604 (GRCm39) |
K65E |
probably benign |
Het |
| Treml2 |
A |
G |
17: 48,615,090 (GRCm39) |
T192A |
possibly damaging |
Het |
| Vmn2r110 |
T |
C |
17: 20,803,627 (GRCm39) |
D316G |
probably damaging |
Het |
| Vmn2r5 |
A |
T |
3: 64,411,915 (GRCm39) |
W218R |
probably damaging |
Het |
| Vwa3b |
A |
G |
1: 37,124,391 (GRCm39) |
S330G |
probably benign |
Het |
| Wdr81 |
A |
G |
11: 75,339,971 (GRCm39) |
V220A |
possibly damaging |
Het |
| Zbbx |
A |
G |
3: 74,968,960 (GRCm39) |
S504P |
possibly damaging |
Het |
| Zfp68 |
A |
T |
5: 138,605,283 (GRCm39) |
C347S |
probably damaging |
Het |
| Zfp936 |
T |
A |
7: 42,839,416 (GRCm39) |
C294* |
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 |
|
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 |
|
|
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'- GTCAAGCTGATACATACAAACTGG -3'
(R):5'- TGCCATTTCAACTTCAGACCCAG -3'
Sequencing Primer
(F):5'- ATGTGCCCCAAATACAGTATATAAC -3'
(R):5'- TTCAGACCCAGAACACTTAAGC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation