Mutagenetix > Incidental Mutations

Incidental Mutation 'R0112:Slco1b2'

20504

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

038398-MU

Accession Numbers

Genbank: NM_020495; MGI:

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0112 (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 141671111 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 390 (Y390F)

Ref Sequence

ENSEMBL: ENSMUSP00000044326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042812] [ENSMUST00000203597]

Predicted Effect

probably benign
Transcript: ENSMUST00000042812
AA Change: Y390F

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000044326
Gene: ENSMUSG00000030236
AA Change: Y390F

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: Y390F

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000144747
Gene: ENSMUSG00000030236
AA Change: Y390F

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: 99.0%
3x: 98.1%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (86/86)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,354,803	Y179F	probably benign	Het
Abcd4	A	G	12: 84,612,899		probably benign	Het
Abhd12b	C	T	12: 70,181,017	T191M	probably benign	Het
Adcy5	A	G	16: 35,156,178	E27G	possibly damaging	Het
Adgb	G	A	10: 10,407,158		probably benign	Het
Afdn	T	C	17: 13,884,637	S1186P	probably damaging	Het
Atf6b	G	T	17: 34,651,626	R351L	probably damaging	Het
Axin2	T	C	11: 108,939,397	S348P	possibly damaging	Het
BC030499	T	C	11: 78,291,681		probably benign	Het
Bfsp1	A	C	2: 143,827,643		probably null	Het
Brd1	A	G	15: 88,730,383	V103A	probably benign	Het
Ccdc13	C	A	9: 121,813,481	K392N	probably damaging	Het
Ccdc18	A	G	5: 108,173,761	K577R	probably damaging	Het
Csmd2	G	T	4: 128,496,029	G2186C	probably damaging	Het
Cyp2j5	A	T	4: 96,629,523	M484K	probably benign	Het
Defb3	T	A	8: 19,293,407	L12Q	probably null	Het
Defb7	G	T	8: 19,495,170		probably null	Het
Dhx35	T	A	2: 158,840,620	M491K	probably damaging	Het
Dnah17	T	C	11: 118,074,434	S2261G	possibly damaging	Het
Dnah5	A	C	15: 28,263,679	E853D	probably benign	Het
Dner	C	A	1: 84,583,053	A23S	probably benign	Het
Dock5	A	C	14: 67,819,641	S539A	probably benign	Het
Dsg2	T	A	18: 20,583,042	F317I	probably benign	Het
Enox1	A	T	14: 77,699,198	I539F	possibly damaging	Het
Eogt	G	A	6: 97,135,284		probably benign	Het
Fbxo22	A	G	9: 55,223,346	T300A	probably benign	Het
Fes	T	C	7: 80,384,005	D166G	probably damaging	Het
Fn1	A	G	1: 71,609,653	S1366P	probably damaging	Het
Fndc3a	A	T	14: 72,540,495		probably benign	Het
Foxh1	T	C	15: 76,669,010	H168R	probably benign	Het
Galnt14	T	G	17: 73,574,984		probably benign	Het
Gdf6	A	G	4: 9,844,482	D2G	probably damaging	Het
Gp6	C	A	7: 4,370,184	A247S	probably benign	Het
Gp6	G	C	7: 4,371,627	P232A	probably benign	Het
Grin2c	A	G	11: 115,251,134	Y820H	probably damaging	Het
Gtf2h4	T	C	17: 35,670,448	T198A	possibly damaging	Het
Helz	T	C	11: 107,672,948		probably benign	Het
Htr1d	A	G	4: 136,443,000	E180G	probably benign	Het
Igsf10	A	G	3: 59,326,008	V1768A	probably benign	Het
Ints10	A	T	8: 68,827,302	T694S	probably damaging	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Lipc	T	A	9: 70,820,427	Y131F	probably damaging	Het
Litaf	G	T	16: 10,966,511	T45K	probably damaging	Het
Lmo7	A	T	14: 101,887,193	R363*	probably null	Het
Lrrc37a	A	T	11: 103,500,913	Y1229N	probably benign	Het
Man2a2	C	T	7: 80,358,276	A943T	probably damaging	Het
Mtor	A	G	4: 148,480,923	Y1030C	probably damaging	Het
Naalad2	G	T	9: 18,351,447	Y384*	probably null	Het
Nat2	C	T	8: 67,501,726	Q163*	probably null	Het
Nell2	A	G	15: 95,431,681		probably benign	Het
Nphp3	C	T	9: 104,037,348	H102Y	possibly damaging	Het
Olfr1383	A	T	11: 49,524,134	H137L	possibly damaging	Het
Olfr1442	C	T	19: 12,674,757	T184I	probably benign	Het
Olfr686	A	T	7: 105,203,659	M228K	probably benign	Het
Olr1	T	C	6: 129,488,906	S46G	possibly damaging	Het
Parg	C	A	14: 32,202,433	A63E	probably damaging	Het
Pik3cg	A	G	12: 32,195,715		probably benign	Het
Ripk4	A	G	16: 97,743,561	C629R	probably benign	Het
Rnf145	A	G	11: 44,564,151	T620A	probably benign	Het
Samd9l	T	G	6: 3,376,031	D410A	possibly damaging	Het
Serpinb9f	A	T	13: 33,327,951		probably benign	Het
Slc19a1	T	C	10: 77,042,165	I178T	probably benign	Het
Speg	A	G	1: 75,385,032	E230G	possibly damaging	Het
Tbc1d9	C	A	8: 83,264,837		probably benign	Het
Tmem131l	G	A	3: 83,940,587	Q324*	probably null	Het
Trf	A	G	9: 103,226,956		probably benign	Het
Trp53	T	G	11: 69,588,679	Y202D	probably damaging	Het
Trpv1	T	A	11: 73,253,272	M618K	probably damaging	Het
Trrap	C	A	5: 144,822,761	Y2250*	probably null	Het
Ttc3	A	G	16: 94,385,322		probably benign	Het
Ubtfl1	T	G	9: 18,409,787	S204A	probably benign	Het
Uck2	A	T	1: 167,227,771	Y203N	probably damaging	Het
Utrn	A	T	10: 12,686,465	L1280*	probably null	Het
Vmn1r178	A	T	7: 23,894,184	H146L	possibly damaging	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Vmn2r108	T	C	17: 20,471,635	M209V	probably benign	Het
Vmn2r9	G	A	5: 108,843,125	T790I	probably damaging	Het
Vmn2r94	C	A	17: 18,243,604	R808L	probably benign	Het
Zbtb7c	A	T	18: 76,136,891	S17C	probably damaging	Het
Zfp811	C	T	17: 32,797,764	R434Q	probably damaging	Het
Zkscan6	A	T	11: 65,814,863		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
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
R7182:Slco1b2	UTSW	6	141656930	missense	probably damaging	1.00
R7763:Slco1b2	UTSW	6	141676224	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACCTGACAGGTGGTGTACTTCAGAG -3'
(R):5'- CATCATAGGTCAAGGTTAGGCCAGC -3'

Sequencing Primer
(F):5'- catacacacacacacacacac -3'
(R):5'- TTAGGCCAGCAAATGCCTTG -3'

Posted On

2013-04-11