Mutagenetix > Incidental Mutations

Incidental Mutation 'R1452:Slco1b2'

161069

Institutional Source

Beutler Lab

Gene Symbol

Slco1b2

Ensembl Gene

ENSMUSG00000030236

Gene Name

solute carrier organic anion transporter family, member 1b2

Synonyms

7330442B20Rik, Slc21a6, mlst-1, Oatp1b2, Slc21a10

MMRRC Submission

039507-MU

Accession Numbers

Genbank: NM_020495; MGI:

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1452 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141629518-141686646 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 141672200 bp (GRCm38)

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
2310007B03Rik	T	C	1: 93,152,939	Y415C	probably damaging	Het
2810474O19Rik	A	T	6: 149,326,632	K392I	probably damaging	Het
A2m	A	G	6: 121,678,056	I1446M	probably benign	Het
Acaca	T	A	11: 84,295,059		probably benign	Het
Adgre4	A	T	17: 55,784,996	E85D	probably benign	Het
Akt3	A	T	1: 177,131,067	Y26N	possibly damaging	Het
Arl15	T	C	13: 113,967,783	V132A	probably benign	Het
Atp6v1h	A	G	1: 5,098,137		probably benign	Het
Atrip	T	A	9: 109,072,659	D110V	probably damaging	Het
Bahcc1	T	G	11: 120,282,239		probably benign	Het
Cd53	C	T	3: 106,768,959	G31S	probably damaging	Het
Cdk14	T	C	5: 4,888,927	S404G	possibly damaging	Het
Cers3	A	T	7: 66,783,404	K156N	probably damaging	Het
Colgalt2	C	A	1: 152,504,153	L448M	probably damaging	Het
Cox15	G	T	19: 43,746,905	T141K	probably damaging	Het
Csnk2a2	C	T	8: 95,457,375		probably benign	Het
Cyp2b10	A	T	7: 25,925,388		probably benign	Het
Cyp2c55	A	G	19: 39,011,090	Y80C	probably damaging	Het
Depdc1a	A	G	3: 159,526,691	Y693C	possibly damaging	Het
Des	T	C	1: 75,363,477	S343P	probably damaging	Het
Dync1i2	T	C	2: 71,249,863		probably benign	Het
Eif3m	T	A	2: 105,006,777	Q199L	probably damaging	Het
Emsy	G	T	7: 98,600,674	T802K	probably damaging	Het
Endov	A	G	11: 119,491,825	T33A	probably damaging	Het
Epb41l5	G	A	1: 119,549,166	T728I	probably damaging	Het
Fbxo39	A	G	11: 72,318,402	I363V	probably benign	Het
Gm8674	C	T	13: 49,900,517		noncoding transcript	Het
Gm9733	G	T	3: 15,332,152	T24K	unknown	Het
Il6st	T	A	13: 112,481,464	N137K	possibly damaging	Het
Inf2	A	G	12: 112,601,344	N136S	probably damaging	Het
Iqub	A	T	6: 24,491,559	I376N	probably benign	Het
Kansl3	A	G	1: 36,354,793		probably benign	Het
Kbtbd2	A	T	6: 56,781,924	H71Q	probably damaging	Het
Lgals8	G	T	13: 12,453,327	Y140*	probably null	Het
Macf1	T	A	4: 123,493,998	I924L	probably benign	Het
Mcoln2	A	T	3: 146,181,814	T329S	possibly damaging	Het
Mex3d	A	T	10: 80,381,520	L621Q	probably damaging	Het
Mut	A	G	17: 40,937,468		probably benign	Het
Ncor1	T	C	11: 62,334,631	H1038R	probably damaging	Het
Neb	A	G	2: 52,271,297		probably null	Het
Ngrn	A	G	7: 80,264,772	T224A	probably benign	Het
Nin	G	A	12: 70,017,650	R2019*	probably null	Het
Nphp4	C	G	4: 152,547,018	Q792E	probably damaging	Het
Olfr1047	T	A	2: 86,228,455	N172I	probably damaging	Het
Olfr1166	C	T	2: 88,124,311	V225I	probably benign	Het
Olfr140	C	T	2: 90,051,671	V218I	possibly damaging	Het
Olfr373	C	T	8: 72,100,176	Q139*	probably null	Het
Olfr70	C	T	4: 43,696,823	V117M	probably benign	Het
Pde4dip	C	A	3: 97,724,102	V1164L	probably damaging	Het
Plppr1	A	G	4: 49,301,067		probably benign	Het
Pole2	G	A	12: 69,207,929	L381F	probably benign	Het
Ppp2r5e	A	G	12: 75,469,536		probably benign	Het
Prim2	T	A	1: 33,630,404	E163D	probably benign	Het
Prrc2b	A	T	2: 32,194,985	D296V	probably damaging	Het
Pter	A	G	2: 12,978,621		probably benign	Het
Robo2	C	A	16: 73,961,910	V662L	probably damaging	Het
Snx29	A	T	16: 11,631,471	H260L	probably damaging	Het
Stil	A	G	4: 115,039,195	N959S	probably benign	Het
Taar8c	A	T	10: 24,101,610	D101E	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trpc6	G	A	9: 8,653,147	M573I	probably damaging	Het
Tsr1	A	T	11: 74,899,599	D171V	probably benign	Het
Ube4b	T	C	4: 149,371,169	T348A	probably damaging	Het
Vmn1r85	A	T	7: 13,084,881	I112N	probably damaging	Het
Vps36	A	G	8: 22,218,210		probably null	Het
Wdfy3	G	A	5: 101,937,738	A630V	possibly damaging	Het
Wdsub1	A	T	2: 59,876,800	D14E	probably null	Het
Ylpm1	T	C	12: 85,030,383	I1294T	possibly damaging	Het
Zdhhc17	A	G	10: 110,955,075	F378L	probably benign	Het

Other mutations in Slco1b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00703:Slco1b2	APN	6	141655352	missense	probably damaging	0.99
IGL01583:Slco1b2	APN	6	141663672	missense	possibly damaging	0.85
IGL01909:Slco1b2	APN	6	141648586	missense	probably damaging	1.00
IGL01943:Slco1b2	APN	6	141676286	missense	possibly damaging	0.71
IGL01952:Slco1b2	APN	6	141671230	missense	probably benign	0.01
IGL02186:Slco1b2	APN	6	141634545	splice site	probably benign
IGL02309:Slco1b2	APN	6	141672281	missense	probably damaging	1.00
IGL02352:Slco1b2	APN	6	141685525	missense	probably damaging	0.96
IGL02359:Slco1b2	APN	6	141685525	missense	probably damaging	0.96
IGL02524:Slco1b2	APN	6	141671072	missense	probably benign	0.03
IGL02701:Slco1b2	APN	6	141685545	missense	probably benign	0.35
IGL02962:Slco1b2	APN	6	141648553	missense	probably damaging	0.99
3-1:Slco1b2	UTSW	6	141669463	missense	probably benign	0.01
IGL03052:Slco1b2	UTSW	6	141648585	missense	probably benign	0.13
R0112:Slco1b2	UTSW	6	141671111	missense	probably benign	0.30
R0116:Slco1b2	UTSW	6	141669388	missense	probably benign	0.22
R0515:Slco1b2	UTSW	6	141669410	missense	possibly damaging	0.74
R0831:Slco1b2	UTSW	6	141685446	missense	probably benign	0.01
R0965:Slco1b2	UTSW	6	141685596	missense	probably damaging	1.00
R1115:Slco1b2	UTSW	6	141683254	missense	probably benign	0.03
R1630:Slco1b2	UTSW	6	141656821	missense	probably damaging	0.99
R1885:Slco1b2	UTSW	6	141683225	missense	probably damaging	0.96
R1886:Slco1b2	UTSW	6	141683225	missense	probably damaging	0.96
R1975:Slco1b2	UTSW	6	141683225	missense	probably damaging	0.96
R2394:Slco1b2	UTSW	6	141669374	missense	probably damaging	0.99
R3408:Slco1b2	UTSW	6	141676256	missense	probably benign	0.01
R3793:Slco1b2	UTSW	6	141676307	missense	probably damaging	1.00
R4560:Slco1b2	UTSW	6	141671167	missense	probably benign	0.15
R4561:Slco1b2	UTSW	6	141671167	missense	probably benign	0.15
R4563:Slco1b2	UTSW	6	141671167	missense	probably benign	0.15
R4807:Slco1b2	UTSW	6	141669469	missense	probably damaging	1.00
R4820:Slco1b2	UTSW	6	141685432	missense	probably benign	0.05
R4861:Slco1b2	UTSW	6	141671222	missense	possibly damaging	0.95
R4861:Slco1b2	UTSW	6	141671222	missense	possibly damaging	0.95
R4889:Slco1b2	UTSW	6	141656743	intron	probably benign
R4914:Slco1b2	UTSW	6	141669370	missense	probably benign	0.14
R4918:Slco1b2	UTSW	6	141669370	missense	probably benign	0.14
R4977:Slco1b2	UTSW	6	141657557	missense	probably benign	0.01
R5607:Slco1b2	UTSW	6	141685586	missense	probably benign
R6082:Slco1b2	UTSW	6	141663670	missense	probably benign	0.08
R6118:Slco1b2	UTSW	6	141657510	missense	probably benign	0.03
R6522:Slco1b2	UTSW	6	141655419	critical splice donor site	probably null
R7054:Slco1b2	UTSW	6	141672248	missense	probably damaging	1.00
R7182:Slco1b2	UTSW	6	141656930	missense	probably damaging	1.00
R7763:Slco1b2	UTSW	6	141676224	nonsense	probably null
R8891:Slco1b2	UTSW	6	141683267	missense	probably benign	0.34
R8977:Slco1b2	UTSW	6	141683254	missense	probably benign
R9012:Slco1b2	UTSW	6	141656828	missense	probably damaging	1.00
R9106:Slco1b2	UTSW	6	141672248	missense	probably damaging	1.00
R9176:Slco1b2	UTSW	6	141652503	missense	probably damaging	1.00
R9366:Slco1b2	UTSW	6	141656826	nonsense	probably null
R9425:Slco1b2	UTSW	6	141657523	missense	possibly damaging	0.67

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