Mutagenetix > Incidental Mutation

Incidental Mutation 'R7182:Slco1b2'

559043

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

Accession Numbers

Genbank: NM_020495; MGI:

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7182 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141629518-141686646 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141656930 bp (GRCm38)

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: 4,849,714	V323A	unknown	Het
AC117241.1	A	G	17: 7,352,688	V158A	unknown	Het
Acadm	A	G	3: 153,941,881		probably null	Het
Adcy10	T	G	1: 165,543,470		probably null	Het
Aldh6a1	C	T	12: 84,441,831	A94T	probably benign	Het
Ano2	T	A	6: 125,790,293	L229Q	probably damaging	Het
Cacna1h	C	T	17: 25,377,655	R1828H	probably damaging	Het
Ccdc33	A	T	9: 58,034,173		probably null	Het
Cep112	A	C	11: 108,682,844	D6A	probably benign	Het
Chd9	T	C	8: 91,006,622	F1373S	unknown	Het
Cog5	T	C	12: 31,685,708	L158P	probably damaging	Het
Col6a3	G	A	1: 90,803,678	Q1618*	probably null	Het
Dlg5	A	G	14: 24,244,856	V3A		Het
Dnah7a	T	A	1: 53,620,461		probably null	Het
Dpp10	A	T	1: 123,341,151	H716Q	probably benign	Het
Epor	A	G	9: 21,963,329	F35L	probably benign	Het
Ergic1	A	T	17: 26,654,882	Y92F		Het
Fam71a	C	T	1: 191,163,351	R365H	probably damaging	Het
Fam98a	G	A	17: 75,539,018	Q273*	probably null	Het
Fhdc1	G	A	3: 84,448,850	T429I	probably damaging	Het
Fmnl2	T	A	2: 53,107,441	L468Q	unknown	Het
Fmnl3	C	T	15: 99,321,782	R695Q	probably damaging	Het
Gabrg2	T	C	11: 41,920,506	M271V	probably damaging	Het
Gk5	G	T	9: 96,119,526	V26L	possibly damaging	Het
Gm14412	A	C	2: 177,315,615	N162K	probably benign	Het
Gm3604	T	C	13: 62,371,875	D22G	probably damaging	Het
Gm5565	G	T	5: 146,158,055	H294N	probably benign	Het
Hsf2	T	A	10: 57,505,176	D287E	possibly damaging	Het
Impdh2	G	A	9: 108,563,208	R231H	possibly damaging	Het
Irak3	T	C	10: 120,166,511	H234R	probably damaging	Het
Lrba	GTTCCCTTC	GTTC	3: 86,741,458		probably null	Het
Lrch3	T	A	16: 32,993,779	D551E	probably benign	Het
Manba	A	T	3: 135,567,513	N736I	probably benign	Het
Map2	A	G	1: 66,412,653	D234G	possibly damaging	Het
Mdk	C	A	2: 91,930,852	K121N	unknown	Het
Mfn1	T	A	3: 32,564,220	L526Q	probably damaging	Het
Mfsd2b	A	G	12: 4,866,157		probably null	Het
Mnat1	G	T	12: 73,230,678	E233*	probably null	Het
Mtmr4	T	C	11: 87,604,605		probably null	Het
Mtrf1	A	G	14: 79,423,464	E432G	possibly damaging	Het
Muc5b	C	T	7: 141,842,645	R165C	unknown	Het
Naip6	T	A	13: 100,316,149	I135F	probably benign	Het
Nod2	A	G	8: 88,663,832	T256A	probably benign	Het
Notch4	T	A	17: 34,583,499	V1298E	probably damaging	Het
Nudc	G	T	4: 133,534,465	D169E	possibly damaging	Het
Obscn	A	T	11: 59,035,101	I5602N	probably damaging	Het
Olfr1468-ps1	G	A	19: 13,375,844	G294E	unknown	Het
Osbpl10	G	A	9: 115,067,251	D18N	probably damaging	Het
Pigk	G	A	3: 152,722,551	V72I	possibly damaging	Het
Prl8a6	C	T	13: 27,437,170	E26K	probably damaging	Het
Prpf8	A	G	11: 75,490,727	Y318C	possibly damaging	Het
Rab13	A	G	3: 90,224,763	D159G	possibly damaging	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Ryr2	T	C	13: 11,759,757	H1171R	probably benign	Het
Scn4a	T	A	11: 106,330,308	I842F	probably benign	Het
Scnm1	A	T	3: 95,133,854	N14K	possibly damaging	Het
Serinc1	A	T	10: 57,524,361	I137N	probably benign	Het
Slc30a3	T	C	5: 31,086,825	Q371R	probably benign	Het
Slc30a3	A	C	5: 31,089,670	M103R	probably damaging	Het
Slco1a1	A	T	6: 141,911,839	C589S	probably damaging	Het
Spty2d1	A	T	7: 46,998,523	D219E	probably benign	Het
Svep1	A	T	4: 58,043,991	S3552T	probably benign	Het
Tmem62	A	G	2: 121,004,743	I516M	probably benign	Het
Trim61	A	T	8: 65,013,614	S332T	probably damaging	Het
Trmt10b	A	C	4: 45,308,520	T227P	probably benign	Het
Trpc3	T	C	3: 36,655,109	Q406R	probably benign	Het
Ttc30b	A	T	2: 75,937,949	Y153*	probably null	Het
Ush2a	A	T	1: 188,753,543	Y2950F	probably benign	Het
Usp32	C	T	11: 85,040,170	G478D	probably benign	Het
Wdfy3	A	G	5: 101,943,892	L527P	possibly damaging	Het
Wdr73	A	G	7: 80,893,678	V163A	possibly damaging	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
R1452:Slco1b2	UTSW	6	141672200	missense	probably benign	0.02
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
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
R9648:Slco1b2	UTSW	6	141656929	missense	possibly damaging	0.84
R9652:Slco1b2	UTSW	6	141648632	critical splice donor site	probably null
R9798:Slco1b2	UTSW	6	141655353	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