Mutagenetix > Incidental Mutation

Incidental Mutation 'R9652:Slco1b2'

735373

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 #

R9652 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

141575244-141632372 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 141594358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000044326 (fasta)

Gene Model

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

AlphaFold

Q9JJL3

Predicted Effect

probably null
Transcript: ENSMUST00000042812

SMART Domains

Protein: ENSMUSP00000044326
Gene: ENSMUSG00000030236

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

SMART Domains

Protein: ENSMUSP00000144747
Gene: ENSMUSG00000030236

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: 99.9%
3x: 99.8%
10x: 99.6%
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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	G	A	18: 61,876,432 (GRCm39)	T395M	probably damaging	Het
Akap8l	T	C	17: 32,557,783 (GRCm39)	N35D	probably damaging	Het
Atr	T	A	9: 95,756,887 (GRCm39)	L922Q	probably damaging	Het
B3gnt9	G	T	8: 105,981,129 (GRCm39)	F86L	probably damaging	Het
Bmp1	T	C	14: 70,715,360 (GRCm39)	D925G	probably damaging	Het
Camkmt	A	T	17: 85,759,713 (GRCm39)	R284S	probably benign	Het
Cavin3	G	T	7: 105,131,304 (GRCm39)	H21Q	probably damaging	Het
Ccp110	A	G	7: 118,334,553 (GRCm39)	H180R		Het
Cdh23	A	T	10: 60,167,135 (GRCm39)	V1837E	probably damaging	Het
Ces3b	G	T	8: 105,812,257 (GRCm39)	A169S	probably damaging	Het
Chpt1	T	C	10: 88,325,499 (GRCm39)	N122S	probably benign	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Ctbp2	C	G	7: 132,615,933 (GRCm39)	R334P	probably damaging	Het
Cwh43	T	C	5: 73,572,340 (GRCm39)	S193P	probably benign	Het
Dcstamp	A	T	15: 39,623,792 (GRCm39)	D469V	probably benign	Het
Dst	T	A	1: 34,219,458 (GRCm39)	I1966N	probably benign	Het
Eif3i	G	T	4: 129,489,094 (GRCm39)	F121L	probably benign	Het
Erbb2	T	C	11: 98,326,812 (GRCm39)	S1074P	probably damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fbn2	A	G	18: 58,146,722 (GRCm39)		probably null	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Gm2a	T	C	11: 54,999,764 (GRCm39)	V95A	probably benign	Het
Gp5	A	C	16: 30,128,393 (GRCm39)	F94V	probably damaging	Het
Gramd4	G	A	15: 86,016,160 (GRCm39)	E504K	probably damaging	Het
Gusb	A	G	5: 130,026,652 (GRCm39)	S450P	probably damaging	Het
Htr5a	A	G	5: 28,047,838 (GRCm39)	N131S	possibly damaging	Het
Itga2	G	A	13: 115,020,991 (GRCm39)	P120L	probably benign	Het
Itpkb	G	T	1: 180,160,056 (GRCm39)	E61*	probably null	Het
Katnbl1	T	A	2: 112,239,497 (GRCm39)	V232D	probably damaging	Het
Kifap3	T	C	1: 163,689,657 (GRCm39)	L547P	probably damaging	Het
Krt6a	C	T	15: 101,599,120 (GRCm39)	V482M	probably benign	Het
Lrfn5	T	A	12: 61,890,418 (GRCm39)	V569D	probably damaging	Het
Luzp2	A	G	7: 54,702,580 (GRCm39)	T48A	probably damaging	Het
Mical2	G	T	7: 111,945,996 (GRCm39)	R986L	probably damaging	Het
Mroh8	G	A	2: 157,094,970 (GRCm39)	Q339*	probably null	Het
Msln	A	T	17: 25,968,042 (GRCm39)	V541E	probably damaging	Het
Muc16	T	A	9: 18,498,178 (GRCm39)	M6590L	probably benign	Het
Nhsl3	T	C	4: 129,117,962 (GRCm39)	E279G	possibly damaging	Het
Nisch	A	T	14: 30,893,628 (GRCm39)	V1315E	probably damaging	Het
Nubp2	G	A	17: 25,103,382 (GRCm39)	T165I	probably damaging	Het
Oog3	T	G	4: 143,884,489 (GRCm39)	R482S	probably benign	Het
Or2a7	A	G	6: 43,150,991 (GRCm39)	M24V	probably benign	Het
Or56a42-ps1	A	T	7: 104,775,985 (GRCm39)	N164K	probably benign	Het
Or6c33	T	C	10: 129,853,809 (GRCm39)	I193T	possibly damaging	Het
Or7a41	T	C	10: 78,871,230 (GRCm39)	I200T	probably benign	Het
Or8k39	A	T	2: 86,563,636 (GRCm39)	F107I	probably damaging	Het
P3h4	A	T	11: 100,304,499 (GRCm39)	C247*	probably null	Het
Pakap	G	A	4: 57,710,125 (GRCm39)	A357T	possibly damaging	Het
Plch2	T	A	4: 155,082,942 (GRCm39)	M569L	probably benign	Het
Plcl1	A	G	1: 55,735,450 (GRCm39)	T264A	probably benign	Het
Rad51ap1	G	T	6: 126,904,526 (GRCm39)	N178K	probably benign	Het
Rasa4	T	C	5: 136,130,494 (GRCm39)	L340P	probably damaging	Het
Rassf10	A	G	7: 112,554,784 (GRCm39)	T462A	probably benign	Het
Rlf	G	C	4: 121,007,865 (GRCm39)	L482V	probably damaging	Het
Robo1	T	G	16: 72,821,330 (GRCm39)	S1357A	possibly damaging	Het
Rp1l1	T	C	14: 64,269,714 (GRCm39)	S1767P	probably damaging	Het
Rpl3l	T	A	17: 24,947,328 (GRCm39)	L14Q	probably damaging	Het
Ryr3	T	A	2: 112,635,047 (GRCm39)	T2024S	possibly damaging	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Sema6a	T	C	18: 47,382,252 (GRCm39)	Q765R	probably damaging	Het
Senp6	T	A	9: 80,021,228 (GRCm39)	Y303N	probably damaging	Het
Sertad4	C	T	1: 192,528,836 (GRCm39)	D327N	probably damaging	Het
Slc22a15	T	A	3: 101,790,848 (GRCm39)	Y219F	possibly damaging	Het
Snrnp200	G	T	2: 127,067,959 (GRCm39)	V819L	probably damaging	Het
Ssb	C	A	2: 69,700,784 (GRCm39)	A288E	probably damaging	Het
Syne2	A	G	12: 76,101,620 (GRCm39)	H638R	probably benign	Het
Tm7sf3	A	G	6: 146,527,698 (GRCm39)	S43P	probably benign	Het
Tmem200c	A	G	17: 69,149,181 (GRCm39)	H588R	probably benign	Het
Tnpo3	G	A	6: 29,560,173 (GRCm39)	R657*	probably null	Het
Traf6	T	C	2: 101,518,927 (GRCm39)	C139R	probably damaging	Het
Txnrd1	C	A	10: 82,720,390 (GRCm39)	N424K	possibly damaging	Het
Ubqln3	T	C	7: 103,791,962 (GRCm39)	I43V	probably damaging	Het
Usp32	A	G	11: 84,921,317 (GRCm39)	V699A	probably damaging	Het
Vmn2r103	T	C	17: 20,014,027 (GRCm39)	V273A	probably benign	Het
Vmn2r8	A	G	5: 108,951,107 (GRCm39)	S113P	probably benign	Het
Wdr7	T	A	18: 63,860,826 (GRCm39)	I161N	probably damaging	Het
Zfp474	A	T	18: 52,772,015 (GRCm39)	I223F	probably damaging	Het
Zfp583	A	G	7: 6,320,328 (GRCm39)	L228P	probably damaging	Het
Zfyve27	A	G	19: 42,165,856 (GRCm39)	T76A	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
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
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
R9798:Slco1b2	UTSW	6	141,601,079 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCAATCAACTACTACAGGGG -3'
(R):5'- CTCTTTTCAGAGTAGTTGGAGTTCAC -3'

Sequencing Primer
(F):5'- CTACTACAGGGGAAAGACTAATGTTG -3'
(R):5'- CAGAGTAGTTGGAGTTCACTTTGTAG -3'

Posted On

2022-11-14