Incidental Mutation 'R8977:Slco1b2'
| ID |
683493 |
| 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 |
068715-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8977 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
141575244-141632372 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 141628980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 596
(M596L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042812]
[ENSMUST00000203597]
|
| AlphaFold |
Q9JJL3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042812
AA Change: M596L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000044326
Gene: ENSMUSG00000030236
AA Change: M596L
| 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: M561L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144747
Gene: ENSMUSG00000030236
AA Change: M561L
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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 |
|---|
| 4930438A08Rik |
A |
G |
11: 58,184,710 (GRCm39) |
E476G |
unknown |
Het |
| Aars1 |
G |
A |
8: 111,766,849 (GRCm39) |
R77Q |
probably damaging |
Het |
| Abcc10 |
C |
A |
17: 46,624,593 (GRCm39) |
V795L |
probably benign |
Het |
| Adam30 |
A |
G |
3: 98,069,378 (GRCm39) |
K276E |
probably damaging |
Het |
| Adam6b |
A |
T |
12: 113,453,996 (GRCm39) |
N271I |
probably benign |
Het |
| Adgrl2 |
T |
C |
3: 148,660,223 (GRCm39) |
I17V |
probably null |
Het |
| Anapc1 |
C |
A |
2: 128,483,322 (GRCm39) |
G1258C |
probably damaging |
Het |
| Ank2 |
G |
T |
3: 126,738,575 (GRCm39) |
H2436Q |
unknown |
Het |
| Ankrd13a |
A |
T |
5: 114,933,806 (GRCm39) |
K267* |
probably null |
Het |
| Apob |
T |
C |
12: 8,065,990 (GRCm39) |
Y4320H |
probably damaging |
Het |
| Atp2b2 |
T |
C |
6: 113,750,325 (GRCm39) |
D678G |
probably damaging |
Het |
| Bhlhe41 |
C |
A |
6: 145,809,096 (GRCm39) |
V239F |
possibly damaging |
Het |
| Cbfa2t2 |
T |
G |
2: 154,342,410 (GRCm39) |
L42R |
probably benign |
Het |
| Ccer2 |
G |
A |
7: 28,456,113 (GRCm39) |
V52M |
probably damaging |
Het |
| Ccnj |
T |
C |
19: 40,833,383 (GRCm39) |
F187S |
probably damaging |
Het |
| Cd109 |
G |
A |
9: 78,614,810 (GRCm39) |
V1286I |
probably benign |
Het |
| Cfap210 |
T |
C |
2: 69,617,643 (GRCm39) |
H46R |
possibly damaging |
Het |
| Cfap46 |
G |
T |
7: 139,259,849 (GRCm39) |
T148N |
probably benign |
Het |
| Chmp7 |
A |
G |
14: 69,958,684 (GRCm39) |
V210A |
probably benign |
Het |
| Cuzd1 |
A |
G |
7: 130,923,754 (GRCm39) |
F8S |
probably benign |
Het |
| Dnmbp |
A |
T |
19: 43,840,751 (GRCm39) |
D549E |
probably damaging |
Het |
| Dpp4 |
A |
G |
2: 62,204,747 (GRCm39) |
L240P |
probably benign |
Het |
| Dst |
A |
T |
1: 34,286,864 (GRCm39) |
R3398S |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,734,182 (GRCm39) |
I1186T |
possibly damaging |
Het |
| Extl1 |
T |
C |
4: 134,086,435 (GRCm39) |
E540G |
possibly damaging |
Het |
| Gdpd5 |
A |
G |
7: 99,103,057 (GRCm39) |
I339V |
probably benign |
Het |
| Ggcx |
T |
C |
6: 72,406,265 (GRCm39) |
|
probably null |
Het |
| Gm9195 |
A |
G |
14: 72,691,338 (GRCm39) |
F1637L |
unknown |
Het |
| Igkv5-48 |
G |
C |
6: 69,703,616 (GRCm39) |
N96K |
possibly damaging |
Het |
| Itga11 |
T |
C |
9: 62,662,922 (GRCm39) |
I546T |
probably damaging |
Het |
| Map3k5 |
T |
A |
10: 19,955,000 (GRCm39) |
F624L |
possibly damaging |
Het |
| Map7 |
T |
A |
10: 20,145,336 (GRCm39) |
|
probably null |
Het |
| Mdga2 |
A |
T |
12: 66,844,409 (GRCm39) |
D196E |
possibly damaging |
Het |
| Mettl2 |
T |
C |
11: 105,019,791 (GRCm39) |
C143R |
probably benign |
Het |
| Mmut |
G |
T |
17: 41,249,481 (GRCm39) |
R152L |
probably benign |
Het |
| Ncam1 |
G |
T |
9: 49,418,825 (GRCm39) |
T825K |
probably damaging |
Het |
| Nucb2 |
C |
A |
7: 116,128,063 (GRCm39) |
N257K |
probably benign |
Het |
| Or1e19 |
A |
G |
11: 73,316,651 (GRCm39) |
S53P |
probably benign |
Het |
| Or1p1c |
A |
T |
11: 74,160,304 (GRCm39) |
I30F |
probably benign |
Het |
| Or2b7 |
T |
A |
13: 21,740,016 (GRCm39) |
M59L |
possibly damaging |
Het |
| Or51i1 |
A |
T |
7: 103,670,762 (GRCm39) |
Y254* |
probably null |
Het |
| Or52n1 |
A |
T |
7: 104,383,248 (GRCm39) |
F108I |
probably damaging |
Het |
| Or8k38 |
C |
T |
2: 86,488,472 (GRCm39) |
C110Y |
probably benign |
Het |
| Pamr1 |
T |
A |
2: 102,441,963 (GRCm39) |
V184D |
probably damaging |
Het |
| Paqr9 |
A |
T |
9: 95,442,888 (GRCm39) |
I293F |
possibly damaging |
Het |
| Pi15 |
G |
T |
1: 17,690,126 (GRCm39) |
|
probably null |
Het |
| Pkm |
T |
A |
9: 59,578,923 (GRCm39) |
I301N |
probably damaging |
Het |
| Pramel1 |
T |
A |
4: 143,123,961 (GRCm39) |
I212N |
probably benign |
Het |
| Prdm6 |
A |
T |
18: 53,701,373 (GRCm39) |
I549F |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,386,870 (GRCm39) |
E1105G |
probably benign |
Het |
| Rad51b |
T |
A |
12: 79,704,662 (GRCm39) |
V274E |
probably damaging |
Het |
| Rd3l |
T |
A |
12: 111,946,593 (GRCm39) |
Y61F |
probably damaging |
Het |
| Resf1 |
T |
A |
6: 149,229,906 (GRCm39) |
I984N |
probably damaging |
Het |
| Rgs11 |
T |
C |
17: 26,427,233 (GRCm39) |
V388A |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,812,566 (GRCm39) |
I901V |
probably benign |
Het |
| Riox2 |
A |
G |
16: 59,312,195 (GRCm39) |
D444G |
probably benign |
Het |
| Scn2a |
T |
A |
2: 65,594,014 (GRCm39) |
V1621E |
probably damaging |
Het |
| Sec11c |
A |
G |
18: 65,945,818 (GRCm39) |
I94V |
possibly damaging |
Het |
| Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,556,815 (GRCm39) |
I337T |
probably benign |
Het |
| Slc6a19 |
T |
C |
13: 73,830,269 (GRCm39) |
K516E |
probably benign |
Het |
| Smarce1 |
A |
G |
11: 99,110,511 (GRCm39) |
I100T |
possibly damaging |
Het |
| Stk32c |
A |
T |
7: 138,705,161 (GRCm39) |
M119K |
possibly damaging |
Het |
| Tekt2 |
T |
C |
4: 126,217,266 (GRCm39) |
|
probably null |
Het |
| Tenm4 |
A |
T |
7: 96,461,177 (GRCm39) |
N908Y |
probably damaging |
Het |
| Tex38 |
A |
G |
4: 115,637,792 (GRCm39) |
S4P |
probably benign |
Het |
| Top2b |
T |
A |
14: 16,393,239 (GRCm38) |
H299Q |
probably benign |
Het |
| Trim55 |
C |
A |
3: 19,713,341 (GRCm39) |
R131S |
probably benign |
Het |
| Vmn2r109 |
A |
T |
17: 20,774,531 (GRCm39) |
Y275N |
possibly damaging |
Het |
| Vmn2r116 |
C |
T |
17: 23,605,916 (GRCm39) |
T276I |
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 |
|
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 |
|
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'- GAGCCTCCATGTCTTTGTATTTAATG -3'
Sequencing Primer
(F):5'- CAATATGATCTAACACCGAGG -3'
(R):5'- TTATGGACACTACATACATGTGGGGC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation