Mutagenetix > Incidental Mutation

Incidental Mutation 'R7474:Slco2b1'

579339

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

045548-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99307011-99360547 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99314039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 515 (C515S)

Ref Sequence

ENSEMBL: ENSMUSP00000102703 (fasta)

Gene Model

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

AlphaFold

Q8BXB6

Predicted Effect

probably damaging
Transcript: ENSMUST00000032985
AA Change: C505S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032985
Gene: ENSMUSG00000030737
AA Change: C505S

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

probably damaging
Transcript: ENSMUST00000107086
AA Change: C505S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102701
Gene: ENSMUSG00000030737
AA Change: C505S

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

probably damaging
Transcript: ENSMUST00000107088
AA Change: C515S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102703
Gene: ENSMUSG00000030737
AA Change: C515S

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

SMART Domains

Protein: ENSMUSP00000121002
Gene: ENSMUSG00000030737
AA Change: C34S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,278,088 (GRCm39)	C3089*	probably null	Het
Abcc1	A	G	16: 14,290,850 (GRCm39)	T1487A	possibly damaging	Het
Agfg1	T	A	1: 82,860,132 (GRCm39)	L333*	probably null	Het
Agfg2	C	A	5: 137,652,130 (GRCm39)	V410F	possibly damaging	Het
Amotl2	T	C	9: 102,607,310 (GRCm39)	V706A	probably benign	Het
Apob	A	T	12: 8,059,185 (GRCm39)	T2556S	probably benign	Het
Asb18	T	A	1: 89,920,755 (GRCm39)	H174L	possibly damaging	Het
Atp10a	G	A	7: 58,308,275 (GRCm39)	E25K	unknown	Het
Aup1	T	C	6: 83,031,948 (GRCm39)	L65P	probably benign	Het
Blvra	T	C	2: 126,928,769 (GRCm39)	F86L	probably damaging	Het
Cabp4	T	C	19: 4,189,398 (GRCm39)	D53G	probably benign	Het
Cd300c2	T	A	11: 114,889,122 (GRCm39)	E153V	probably benign	Het
Crxos	A	G	7: 15,636,856 (GRCm39)	E143G	possibly damaging	Het
Csmd2	A	G	4: 128,439,920 (GRCm39)	N3125D		Het
Cyp2c67	T	A	19: 39,605,876 (GRCm39)	Q340L	probably null	Het
Dscam	T	A	16: 96,621,089 (GRCm39)	N540Y	possibly damaging	Het
E2f8	G	A	7: 48,525,508 (GRCm39)	R155W	probably damaging	Het
Ext1	A	T	15: 53,207,885 (GRCm39)	V292D	probably damaging	Het
Extl3	T	C	14: 65,314,090 (GRCm39)	E364G	possibly damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Fsd1	A	T	17: 56,295,149 (GRCm39)	D46V	possibly damaging	Het
Gcnt2	T	A	13: 41,111,733 (GRCm39)	L374H	probably damaging	Het
Gm10309	G	A	17: 86,812,095 (GRCm39)		probably benign	Het
Gm14410	A	T	2: 176,894,618 (GRCm39)		probably null	Het
Gm5114	A	T	7: 39,057,404 (GRCm39)	S738R	probably benign	Het
Gtf3c2	C	A	5: 31,325,100 (GRCm39)	G502W	probably damaging	Het
Insc	G	A	7: 114,368,058 (GRCm39)		probably null	Het
Kcnt2	T	C	1: 140,498,216 (GRCm39)	Y898H	possibly damaging	Het
Kctd19	C	A	8: 106,118,664 (GRCm39)	R299L	probably benign	Het
Klf10	T	C	15: 38,297,446 (GRCm39)	N198S	probably benign	Het
L3mbtl1	A	T	2: 162,808,524 (GRCm39)	D574V	probably damaging	Het
Lamc1	G	A	1: 153,208,011 (GRCm39)	A92V	possibly damaging	Het
Lrrc63	T	A	14: 75,363,643 (GRCm39)	T163S	possibly damaging	Het
Mak	T	A	13: 41,204,956 (GRCm39)	K127N	probably damaging	Het
Mdga2	G	A	12: 66,533,535 (GRCm39)	Q945*	probably null	Het
Mthfr	T	A	4: 148,137,059 (GRCm39)	I519N	possibly damaging	Het
Mtmr2	C	A	9: 13,710,521 (GRCm39)	H357N	probably damaging	Het
Myh13	A	C	11: 67,258,537 (GRCm39)	Q184P		Het
Myh13	A	T	11: 67,217,990 (GRCm39)	E21V	possibly damaging	Het
Nans	T	A	4: 46,502,484 (GRCm39)	L307Q	probably damaging	Het
Ncan	C	A	8: 70,554,691 (GRCm39)	R1042L	possibly damaging	Het
Nrg3	T	C	14: 38,733,956 (GRCm39)	E310G	probably damaging	Het
Obsl1	A	C	1: 75,474,828 (GRCm39)	N857K	probably benign	Het
Olfml2a	T	C	2: 38,850,273 (GRCm39)	V663A	probably damaging	Het
Or14j10	T	C	17: 37,935,277 (GRCm39)	D83G	probably benign	Het
Or51v15-ps1	C	A	7: 103,278,354 (GRCm39)	W271L	unknown	Het
Or52e19b	A	G	7: 103,032,969 (GRCm39)	I80T	probably damaging	Het
Or6d13	G	T	6: 116,517,999 (GRCm39)	C195F	probably damaging	Het
Or8i2	T	C	2: 86,852,898 (GRCm39)		probably benign	Het
Pla2g4a	T	C	1: 149,740,951 (GRCm39)	M363V	possibly damaging	Het
Pramel26	T	C	4: 143,538,269 (GRCm39)	D234G	probably benign	Het
Prickle1	A	T	15: 93,406,552 (GRCm39)	V157D	possibly damaging	Het
Pstk	A	G	7: 130,975,362 (GRCm39)	N105S	probably benign	Het
Ptpn21	A	G	12: 98,703,622 (GRCm39)		probably null	Het
Rnf2	T	A	1: 151,347,467 (GRCm39)	E277D	probably benign	Het
Rnpepl1	T	C	1: 92,846,694 (GRCm39)	F532S	probably benign	Het
Rtn1	C	T	12: 72,355,164 (GRCm39)	A261T	possibly damaging	Het
Ryr2	A	G	13: 11,609,762 (GRCm39)	S4355P	probably benign	Het
Sacs	T	G	14: 61,448,627 (GRCm39)	L3558V	probably benign	Het
Senp6	T	C	9: 80,049,610 (GRCm39)	V1047A	probably damaging	Het
Smgc	T	A	15: 91,744,892 (GRCm39)	V732E	possibly damaging	Het
Sorcs1	T	C	19: 50,141,550 (GRCm39)	M1105V	possibly damaging	Het
Spats1	A	G	17: 45,768,087 (GRCm39)	Y160H	possibly damaging	Het
Tnfsf14	T	A	17: 57,497,848 (GRCm39)	D128V		Het
Tns3	T	C	11: 8,480,894 (GRCm39)	Q234R	probably damaging	Het
Uxs1	A	G	1: 43,796,184 (GRCm39)	V306A	possibly damaging	Het
Vac14	T	A	8: 111,363,066 (GRCm39)	V304D	probably damaging	Het
Vangl1	A	G	3: 102,091,565 (GRCm39)	F174L	probably benign	Het
Vav1	A	G	17: 57,606,102 (GRCm39)	E242G	probably benign	Het
Vsir	A	G	10: 60,204,701 (GRCm39)	N305D	probably benign	Het
Vwce	T	A	19: 10,624,305 (GRCm39)	C399S	possibly damaging	Het
Wrn	A	T	8: 33,819,209 (GRCm39)	L248M	probably damaging	Het
Zfp141	T	A	7: 42,125,678 (GRCm39)	K265*	probably null	Het
Zfp735	A	T	11: 73,602,002 (GRCm39)	K315N	possibly damaging	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
R5358:Slco2b1	UTSW	7	99,309,251 (GRCm39)	missense	unknown
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
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'- TTGTTGACAGAACGGGGCTC -3'
(R):5'- AGCTGAAATCACTGGCCACTC -3'

Sequencing Primer
(F):5'- GCTCTGCACTTGCCAAAG -3'
(R):5'- ACTCCTCTCAGAGTAGGAGC -3'

Posted On

2019-10-07