Mutagenetix > Incidental Mutation

Incidental Mutation 'R5358:Slco2b1'

424171

Institutional Source

Beutler Lab

Gene Symbol

Slco2b1

Ensembl Gene

ENSMUSG00000030737

Gene Name

solute carrier organic anion transporter family, member 2b1

Synonyms

OATP-B, Slc21a9

MMRRC Submission

042937-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5358 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99307011-99360547 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99309251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 194 (I194L)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032985] [ENSMUST00000107086] [ENSMUST00000107088]

AlphaFold

Q8BXB6

Predicted Effect

silent
Transcript: ENSMUST00000032985

SMART Domains

Protein: ENSMUSP00000032985
Gene: ENSMUSG00000030737

Domain	Start	End	E-Value	Type
Pfam:OATP	40	637	9.3e-189	PFAM
Pfam:MFS_1	44	468	1.9e-17	PFAM
transmembrane domain	640	662	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000107086

SMART Domains

Protein: ENSMUSP00000102701
Gene: ENSMUSG00000030737

Domain	Start	End	E-Value	Type
Pfam:OATP	40	637	9.3e-189	PFAM
Pfam:MFS_1	44	468	1.9e-17	PFAM
transmembrane domain	640	662	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000107088

SMART Domains

Protein: ENSMUSP00000102703
Gene: ENSMUSG00000030737

Domain	Start	End	E-Value	Type
Pfam:OATP	52	646	3.6e-182	PFAM
Pfam:MFS_1	53	476	2e-17	PFAM
transmembrane domain	650	672	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131160

Predicted Effect

unknown
Transcript: ENSMUST00000154295
AA Change: I194L

SMART Domains

Protein: ENSMUSP00000121002
Gene: ENSMUSG00000030737
AA Change: I194L

Domain	Start	End	E-Value	Type
Pfam:OATP	5	166	1.3e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208024

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the organic anion-transporting polypeptide family of membrane proteins. The protein encoded by this locus may function in regulation of placental uptake of sulfated steroids. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]

Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,849,165 (GRCm39)	V1842A	probably damaging	Het
Abi3	A	T	11: 95,732,934 (GRCm39)	F13L	probably benign	Het
Adgre4	A	G	17: 56,125,758 (GRCm39)	K538R	probably benign	Het
Bcas3	C	T	11: 85,342,581 (GRCm39)	H191Y	probably benign	Het
Bicdl2	A	G	17: 23,886,538 (GRCm39)	T376A	probably benign	Het
Ceacam18	C	A	7: 43,286,497 (GRCm39)	N123K	possibly damaging	Het
Celsr3	C	T	9: 108,709,224 (GRCm39)	R1357C	possibly damaging	Het
Chek2	T	C	5: 110,989,148 (GRCm39)		probably benign	Het
Chmp7	A	G	14: 69,958,684 (GRCm39)	V210A	probably benign	Het
Chrm2	A	G	6: 36,500,290 (GRCm39)	K49R	probably damaging	Het
Ciao2b	T	C	8: 105,368,282 (GRCm39)	N14S	probably damaging	Het
Daam1	T	A	12: 71,999,233 (GRCm39)	L623*	probably null	Het
Ddx31	T	A	2: 28,753,782 (GRCm39)	C448S	probably damaging	Het
Dnah7a	A	G	1: 53,586,331 (GRCm39)	S1507P	probably damaging	Het
Dnah8	C	A	17: 30,965,928 (GRCm39)	T2420K	probably damaging	Het
Dyrk3	C	T	1: 131,057,432 (GRCm39)	R247H	probably damaging	Het
Exoc4	A	G	6: 33,242,934 (GRCm39)	E49G	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Foxj3	A	G	4: 119,476,596 (GRCm39)	E258G	probably damaging	Het
Gata4	C	T	14: 63,478,075 (GRCm39)	A175T	probably benign	Het
Helz2	C	T	2: 180,877,321 (GRCm39)	E1106K	probably damaging	Het
Hip1	G	T	5: 135,465,252 (GRCm39)	S385R	probably benign	Het
Igsf9	C	T	1: 172,312,078 (GRCm39)	T8I	probably benign	Het
Insyn2b	G	A	11: 34,352,788 (GRCm39)	E277K	probably damaging	Het
Katnal2	A	G	18: 77,105,190 (GRCm39)	Y86H	possibly damaging	Het
Kcnh6	A	T	11: 105,918,417 (GRCm39)	I756F	possibly damaging	Het
Kdm5b	C	T	1: 134,535,432 (GRCm39)	R570*	probably null	Het
Kif16b	T	A	2: 142,582,889 (GRCm39)	R545S	probably damaging	Het
Kif21b	T	A	1: 136,100,030 (GRCm39)	I1528N	possibly damaging	Het
Kmt2a	T	C	9: 44,730,571 (GRCm39)		probably benign	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Melk	C	T	4: 44,363,730 (GRCm39)	T592M	probably damaging	Het
Mknk2	T	C	10: 80,507,597 (GRCm39)	T60A	probably benign	Het
Ncoa6	T	C	2: 155,248,907 (GRCm39)	K1466E	probably damaging	Het
Ntsr2	A	C	12: 16,704,083 (GRCm39)	T109P	probably damaging	Het
Nup214	C	A	2: 31,907,158 (GRCm39)	S995Y	unknown	Het
Or2a5	A	T	6: 42,873,454 (GRCm39)	Q23L	probably benign	Het
Pclo	T	A	5: 14,762,750 (GRCm39)	L456*	probably null	Het
Pde5a	A	G	3: 122,541,825 (GRCm39)	D105G	probably damaging	Het
Pik3c3	C	A	18: 30,456,597 (GRCm39)	P709H	probably damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rab3c	T	C	13: 110,198,497 (GRCm39)	N179S	possibly damaging	Het
Setdb2	T	A	14: 59,646,885 (GRCm39)	R559S	probably benign	Het
Sf3b1	A	G	1: 55,042,469 (GRCm39)	Y474H	probably benign	Het
Slc6a6	G	T	6: 91,712,155 (GRCm39)	W228L	probably benign	Het
Slc8a2	T	G	7: 15,891,228 (GRCm39)	I750S	probably damaging	Het
Smarcd1	C	T	15: 99,601,128 (GRCm39)	Q45*	probably null	Het
Srcap	T	G	7: 127,139,492 (GRCm39)	L1271R	probably damaging	Het
Srsf12	A	T	4: 33,209,330 (GRCm39)	N9Y	probably damaging	Het
St7	T	C	6: 17,819,317 (GRCm39)	S74P	probably damaging	Het
Stxbp5l	T	A	16: 36,994,688 (GRCm39)	E739V	probably damaging	Het
Sun3	T	A	11: 8,981,496 (GRCm39)	Q36L	possibly damaging	Het
Tbc1d32	T	C	10: 56,047,033 (GRCm39)	H545R	possibly damaging	Het
Tcp11	A	T	17: 28,296,994 (GRCm39)	C133S	probably benign	Het
Tm6sf2	T	C	8: 70,526,939 (GRCm39)	V36A	possibly damaging	Het
Tmem108	T	C	9: 103,376,717 (GRCm39)	Y244C	probably damaging	Het
Tra2a	A	T	6: 49,227,949 (GRCm39)		probably benign	Het
Trpm3	A	T	19: 22,903,332 (GRCm39)	I1031F	probably damaging	Het
Ttll3	A	G	6: 113,378,292 (GRCm39)	K381E	probably benign	Het
Uaca	T	C	9: 60,778,430 (GRCm39)	V937A	probably benign	Het
Umod	C	T	7: 119,071,577 (GRCm39)	G388D	probably damaging	Het
Vmn2r90	G	A	17: 17,924,412 (GRCm39)		probably null	Het
Zbtb47	T	A	9: 121,594,661 (GRCm39)	F540Y	probably damaging	Het
Zfp644	G	A	5: 106,783,541 (GRCm39)	T1002I	probably damaging	Het
Zfp738	A	G	13: 67,819,131 (GRCm39)	Y287H	probably damaging	Het
Zfyve16	T	C	13: 92,644,771 (GRCm39)	T1144A	probably benign	Het
Zgrf1	T	C	3: 127,361,352 (GRCm39)		probably null	Het

Other mutations in Slco2b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Slco2b1	APN	7	99,309,259 (GRCm39)	nonsense	probably null
IGL00469:Slco2b1	APN	7	99,309,318 (GRCm39)	missense	probably benign	0.21
IGL02625:Slco2b1	APN	7	99,309,330 (GRCm39)	splice site	probably null
IGL03164:Slco2b1	APN	7	99,334,743 (GRCm39)	missense	probably damaging	0.97
3-1:Slco2b1	UTSW	7	99,334,700 (GRCm39)	missense	probably damaging	1.00
R0076:Slco2b1	UTSW	7	99,334,708 (GRCm39)	nonsense	probably null
R0370:Slco2b1	UTSW	7	99,339,644 (GRCm39)	missense	probably damaging	1.00
R0469:Slco2b1	UTSW	7	99,310,743 (GRCm39)	missense	probably benign	0.30
R0510:Slco2b1	UTSW	7	99,310,743 (GRCm39)	missense	probably benign	0.30
R1456:Slco2b1	UTSW	7	99,314,114 (GRCm39)	missense	probably null
R1868:Slco2b1	UTSW	7	99,335,243 (GRCm39)	missense	probably damaging	1.00
R2046:Slco2b1	UTSW	7	99,339,686 (GRCm39)	missense	probably damaging	0.98
R4030:Slco2b1	UTSW	7	99,332,032 (GRCm39)	missense	probably damaging	1.00
R4166:Slco2b1	UTSW	7	99,309,333 (GRCm39)	missense	probably benign	0.30
R4406:Slco2b1	UTSW	7	99,314,096 (GRCm39)	missense	probably benign	0.22
R4643:Slco2b1	UTSW	7	99,316,214 (GRCm39)	missense	probably benign	0.00
R4770:Slco2b1	UTSW	7	99,320,156 (GRCm39)	critical splice donor site	probably null
R4927:Slco2b1	UTSW	7	99,335,195 (GRCm39)	missense	probably damaging	0.99
R5033:Slco2b1	UTSW	7	99,309,256 (GRCm39)	missense	probably benign	0.14
R5166:Slco2b1	UTSW	7	99,338,220 (GRCm39)	missense	possibly damaging	0.50
R5306:Slco2b1	UTSW	7	99,338,198 (GRCm39)	missense	possibly damaging	0.79
R5389:Slco2b1	UTSW	7	99,335,132 (GRCm39)	missense	probably damaging	0.98
R5874:Slco2b1	UTSW	7	99,316,301 (GRCm39)	missense	probably benign
R6151:Slco2b1	UTSW	7	99,339,770 (GRCm39)	missense	possibly damaging	0.46
R6163:Slco2b1	UTSW	7	99,338,106 (GRCm39)	missense	probably damaging	1.00
R6192:Slco2b1	UTSW	7	99,334,779 (GRCm39)	missense	probably damaging	1.00
R6489:Slco2b1	UTSW	7	99,339,762 (GRCm39)	nonsense	probably null
R6651:Slco2b1	UTSW	7	99,316,376 (GRCm39)	missense	probably benign	0.09
R7135:Slco2b1	UTSW	7	99,344,270 (GRCm39)	missense	probably null	0.03
R7322:Slco2b1	UTSW	7	99,341,055 (GRCm39)	missense	not run
R7353:Slco2b1	UTSW	7	99,339,764 (GRCm39)	missense	possibly damaging	0.77
R7474:Slco2b1	UTSW	7	99,314,039 (GRCm39)	missense	probably damaging	1.00
R7888:Slco2b1	UTSW	7	99,338,050 (GRCm39)	missense	unknown
R8121:Slco2b1	UTSW	7	99,334,760 (GRCm39)	missense	probably benign	0.00
R8751:Slco2b1	UTSW	7	99,309,259 (GRCm39)	nonsense	probably null
R9031:Slco2b1	UTSW	7	99,338,214 (GRCm39)	missense	probably damaging	1.00
R9068:Slco2b1	UTSW	7	99,320,171 (GRCm39)	missense	probably benign	0.17
R9725:Slco2b1	UTSW	7	99,335,265 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACACAGTGACTCCTTGGTGC -3'
(R):5'- GGGCTCCTGAGTTCAAGGTTTC -3'

Sequencing Primer
(F):5'- AGTGACTCCTTGGTGCCAAAG -3'
(R):5'- CTGAGTTCAAGGTTTCTCGTTC -3'

Posted On

2016-08-04