Mutagenetix > Incidental Mutation

Incidental Mutation 'R9366:Slco1b2'

708968

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9366 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

141575244-141632372 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 141602552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 168 (Y168*)

Ref Sequence

ENSEMBL: ENSMUSP00000044326 (fasta)

Gene Model

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

AlphaFold

Q9JJL3

Predicted Effect

probably null
Transcript: ENSMUST00000042812
AA Change: Y168*

SMART Domains

Protein: ENSMUSP00000044326
Gene: ENSMUSG00000030236
AA Change: Y168*

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 null
Transcript: ENSMUST00000203597
AA Change: Y168*

SMART Domains

Protein: ENSMUSP00000144747
Gene: ENSMUSG00000030236
AA Change: Y168*

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	C	T	8: 71,914,328 (GRCm39)	R100Q	probably benign	Het
Acp5	C	T	9: 22,039,224 (GRCm39)	C163Y	probably damaging	Het
Ankrd17	C	T	5: 90,416,508 (GRCm39)	R1108Q	probably damaging	Het
Atp2b4	C	A	1: 133,642,920 (GRCm39)	G1062C	probably damaging	Het
Bicral	A	T	17: 47,117,558 (GRCm39)	M788K	possibly damaging	Het
C1s2	C	A	6: 124,602,694 (GRCm39)	A506S	probably benign	Het
Capn9	C	G	8: 125,332,280 (GRCm39)	T417S	probably benign	Het
Cd109	T	G	9: 78,622,275 (GRCm39)	S1422A	probably benign	Het
Cd207	G	T	6: 83,648,779 (GRCm39)	N294K	probably damaging	Het
Cdc42bpa	A	G	1: 179,921,675 (GRCm39)	E605G	probably damaging	Het
Cdhr1	C	A	14: 36,811,463 (GRCm39)	G216V	possibly damaging	Het
Ckap2	A	T	8: 22,658,988 (GRCm39)	M585K	possibly damaging	Het
Clp1	G	T	2: 84,556,473 (GRCm39)	S2R	probably benign	Het
Cngb3	G	T	4: 19,395,983 (GRCm39)	V342F	probably benign	Het
Col18a1	T	C	10: 76,932,258 (GRCm39)	D65G	unknown	Het
Col3a1	C	T	1: 45,380,391 (GRCm39)	P972S	unknown	Het
Cxcr5	C	T	9: 44,424,730 (GRCm39)	C309Y	possibly damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Dcc	A	T	18: 71,708,281 (GRCm39)	N478K	probably damaging	Het
Emb	G	T	13: 117,357,096 (GRCm39)		probably benign	Het
Emsy	A	T	7: 98,290,860 (GRCm39)	N101K	probably benign	Het
Epb41l5	A	G	1: 119,548,448 (GRCm39)	Y137H	probably damaging	Het
Etfdh	C	T	3: 79,519,271 (GRCm39)	G354D	probably benign	Het
Fa2h	A	T	8: 112,076,006 (GRCm39)	Y206N	probably benign	Het
Gabrr2	T	C	4: 33,085,771 (GRCm39)	V217A		Het
Gimap4	A	G	6: 48,668,037 (GRCm39)	K264R	probably benign	Het
Gpr31b	C	A	17: 13,270,375 (GRCm39)	D265Y	probably damaging	Het
Irx4	A	G	13: 73,417,025 (GRCm39)	T474A	probably benign	Het
Kif21a	T	C	15: 90,843,951 (GRCm39)	E1096G	probably damaging	Het
Letm2	A	T	8: 26,084,165 (GRCm39)	V22E	probably damaging	Het
Lrrc45	A	G	11: 120,611,552 (GRCm39)	E642G	probably damaging	Het
Mark1	A	T	1: 184,653,792 (GRCm39)	V170E	probably damaging	Het
Mbd6	G	A	10: 127,122,304 (GRCm39)	Q175*	probably null	Het
Mrc1	T	A	2: 14,321,709 (GRCm39)	D1067E	probably damaging	Het
Muc5b	A	G	7: 141,417,041 (GRCm39)	H3329R	probably benign	Het
Myh1	A	T	11: 67,110,114 (GRCm39)	D1434V	probably damaging	Het
Myo5a	T	A	9: 75,124,800 (GRCm39)	L1785Q	probably damaging	Het
Myrfl	A	G	10: 116,670,358 (GRCm39)	I295T	possibly damaging	Het
Nav3	C	A	10: 109,659,364 (GRCm39)	R751L	probably damaging	Het
Neb	T	C	2: 52,172,699 (GRCm39)	K1536R	probably benign	Het
Nynrin	T	G	14: 56,100,587 (GRCm39)	S126A	probably damaging	Het
Or13p3	A	T	4: 118,566,831 (GRCm39)	T76S	probably damaging	Het
Or5m8	A	G	2: 85,822,731 (GRCm39)	D190G	possibly damaging	Het
Or6c69c	A	T	10: 129,911,067 (GRCm39)	K263*	probably null	Het
Parp14	A	C	16: 35,659,630 (GRCm39)		probably null	Het
Phldb1	G	T	9: 44,622,546 (GRCm39)	L36M	possibly damaging	Het
Pin1	C	A	9: 20,566,841 (GRCm39)	T81N	probably damaging	Het
Pkhd1l1	T	C	15: 44,410,308 (GRCm39)	I2605T	probably benign	Het
Plcb3	A	G	19: 6,937,658 (GRCm39)		probably null	Het
Proser3	G	A	7: 30,248,478 (GRCm39)	S72L	probably damaging	Het
Pum2	T	A	12: 8,783,344 (GRCm39)	S598T	probably benign	Het
Pwp1	T	A	10: 85,717,870 (GRCm39)	N269K	probably damaging	Het
Qsox1	A	G	1: 155,665,162 (GRCm39)	S260P	probably benign	Het
Ric3	A	G	7: 108,653,644 (GRCm39)	L149P	probably damaging	Het
Rif1	A	G	2: 52,010,356 (GRCm39)	T707A		Het
Rnf213	A	C	11: 119,327,057 (GRCm39)	R1682S		Het
Rpgrip1l	G	T	8: 91,996,809 (GRCm39)	Y690*	probably null	Het
Slc29a2	A	G	19: 5,074,609 (GRCm39)	T34A	probably damaging	Het
Slc6a1	A	G	6: 114,280,974 (GRCm39)	N176S	possibly damaging	Het
Snca	C	A	6: 60,792,675 (GRCm39)	A78S	probably benign	Het
Snrnp200	T	A	2: 127,058,010 (GRCm39)	D257E	probably benign	Het
Srebf2	T	C	15: 82,083,837 (GRCm39)	V959A	probably benign	Het
Stk3	A	C	15: 35,072,634 (GRCm39)	I209S	probably damaging	Het
Thsd7a	A	T	6: 12,555,480 (GRCm39)	C135S		Het
Tlnrd1	G	T	7: 83,531,582 (GRCm39)	A283E	probably benign	Het
Tomm70a	A	T	16: 56,970,259 (GRCm39)	K546*	probably null	Het
Trak1	C	T	9: 121,301,578 (GRCm39)	T778I	probably damaging	Het
Trappc9	T	C	15: 72,808,937 (GRCm39)	I709V	probably benign	Het
Trgc3	A	G	13: 19,446,825 (GRCm39)	T115A	probably benign	Het
Trp53rkb	T	C	2: 166,637,700 (GRCm39)	S219P	possibly damaging	Het
Ubqlnl	G	C	7: 103,798,592 (GRCm39)	L302V	possibly damaging	Het
Uqcc1	C	A	2: 155,771,995 (GRCm39)		probably benign	Het
Vps13a	G	A	19: 16,672,894 (GRCm39)	R1293W	probably damaging	Het
Vps9d1	G	T	8: 123,974,486 (GRCm39)	S267*	probably null	Het
Vwa5b1	A	T	4: 138,318,229 (GRCm39)	I546N	probably damaging	Het
Zbtb8b	A	T	4: 129,326,151 (GRCm39)	M338K	probably benign	Het
Zfp652	C	T	11: 95,643,833 (GRCm39)	R344*	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
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
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'- AGTCAAGCTGATACATACAAACTGG -3'
(R):5'- GCTGCCATTTCAACTTCAGAC -3'

Sequencing Primer
(F):5'- ATGTGCCCCAAATACAGTATATAAC -3'
(R):5'- GCCATTTCAACTTCAGACCCAGAAC -3'

Posted On

2022-04-18