Mutagenetix > Incidental Mutation

Incidental Mutation 'R0469:Slco2b1'

43131

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

038669-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0469 (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 99310743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 603 (M603L)

Ref Sequence

ENSEMBL: ENSMUSP00000102703 (fasta)

Gene Model

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

AlphaFold

Q8BXB6

Predicted Effect

probably benign
Transcript: ENSMUST00000032985
AA Change: M593L

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000032985
Gene: ENSMUSG00000030737
AA Change: M593L

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 benign
Transcript: ENSMUST00000107086
AA Change: M593L

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102701
Gene: ENSMUSG00000030737
AA Change: M593L

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 benign
Transcript: ENSMUST00000107088
AA Change: M603L

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102703
Gene: ENSMUSG00000030737
AA Change: M603L

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: ENSMUST00000127834

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131160

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148972

Predicted Effect

unknown
Transcript: ENSMUST00000154295
AA Change: M122L

SMART Domains

Protein: ENSMUSP00000121002
Gene: ENSMUSG00000030737
AA Change: M122L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208024

Meta Mutation Damage Score

0.1133

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.3%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,125,482 (GRCm39)	I67T	probably damaging	Het
Acoxl	G	A	2: 127,722,423 (GRCm39)		probably null	Het
Adam10	T	A	9: 70,655,530 (GRCm39)	W333R	probably damaging	Het
Ahnak	C	T	19: 8,995,596 (GRCm39)	R5627*	probably null	Het
Alms1	A	T	6: 85,597,351 (GRCm39)	R1195*	probably null	Het
Arih2	T	A	9: 108,482,291 (GRCm39)	H490L	possibly damaging	Het
Arpc1b	T	A	5: 145,064,525 (GRCm39)	W361R	probably damaging	Het
B3gntl1	A	T	11: 121,563,851 (GRCm39)	V3D	probably benign	Het
Baiap2l1	T	C	5: 144,212,701 (GRCm39)	Y438C	probably damaging	Het
Bicc1	C	A	10: 70,915,045 (GRCm39)	R73L	probably benign	Het
Ccdc110	T	A	8: 46,388,194 (GRCm39)	N50K	probably benign	Het
Ccdc168	T	A	1: 44,100,257 (GRCm39)	K280N	possibly damaging	Het
Cep76	A	T	18: 67,767,850 (GRCm39)	N227K	probably benign	Het
Col6a4	A	T	9: 105,957,746 (GRCm39)	V26D	probably damaging	Het
Cpe	T	A	8: 65,064,501 (GRCm39)	I233F	probably damaging	Het
Cpsf2	T	C	12: 101,955,045 (GRCm39)	V272A	probably damaging	Het
Defa34	A	G	8: 22,155,988 (GRCm39)		probably null	Het
Dnah12	A	G	14: 26,520,856 (GRCm39)	R1892G	probably damaging	Het
Efr3b	G	T	12: 4,032,058 (GRCm39)	D183E	probably benign	Het
Epyc	A	G	10: 97,485,625 (GRCm39)	T22A	probably benign	Het
Fam83a	C	A	15: 57,873,322 (GRCm39)	Q384K	probably benign	Het
Fam83b	G	T	9: 76,400,108 (GRCm39)	L332I	possibly damaging	Het
Ggn	C	T	7: 28,870,721 (GRCm39)	P47S	probably damaging	Het
Gli3	T	G	13: 15,899,370 (GRCm39)	L919R	probably damaging	Het
Golgb1	A	G	16: 36,751,997 (GRCm39)	I3144V	probably benign	Het
Gpr108	T	C	17: 57,542,358 (GRCm39)	D549G	possibly damaging	Het
Gpr39	C	T	1: 125,605,237 (GRCm39)	T55M	probably damaging	Het
Grk4	A	G	5: 34,873,557 (GRCm39)	T208A	probably damaging	Het
Gucy2e	T	C	11: 69,126,402 (GRCm39)	D326G	probably benign	Het
H2-Eb2	C	T	17: 34,553,218 (GRCm39)	Q135*	probably null	Het
Hectd4	T	A	5: 121,419,959 (GRCm39)	Y635N	possibly damaging	Het
Hectd4	G	A	5: 121,443,736 (GRCm39)	E1319K	possibly damaging	Het
Hnrnph3	T	A	10: 62,853,994 (GRCm39)	R41S	probably benign	Het
Hnrnph3	T	A	10: 62,855,279 (GRCm39)	D2V	probably damaging	Het
Hs3st2	T	C	7: 121,099,792 (GRCm39)	S213P	probably damaging	Het
Ikbkb	A	T	8: 23,161,651 (GRCm39)	C412*	probably null	Het
Kctd21	T	C	7: 96,996,748 (GRCm39)	F74L	probably damaging	Het
Krt23	T	A	11: 99,377,608 (GRCm39)	I133L	probably damaging	Het
Krt74	T	C	15: 101,671,751 (GRCm39)		noncoding transcript	Het
Lmtk3	T	A	7: 45,443,536 (GRCm39)	L740M	possibly damaging	Het
Lrrc10	T	A	10: 116,881,695 (GRCm39)	L123Q	probably damaging	Het
Map1a	A	T	2: 121,136,255 (GRCm39)	H2357L	probably benign	Het
Mcf2l	A	G	8: 13,047,337 (GRCm39)	D233G	probably damaging	Het
Mdn1	A	G	4: 32,738,619 (GRCm39)	N3524S	probably benign	Het
Msto1	A	G	3: 88,818,848 (GRCm39)	L269P	probably benign	Het
Naca	C	T	10: 127,880,659 (GRCm39)	A1897V	probably benign	Het
Or1j10	A	T	2: 36,267,474 (GRCm39)	I229F	probably benign	Het
Or4a39	A	T	2: 89,237,135 (GRCm39)	M96K	probably damaging	Het
Or5w15	A	G	2: 87,567,825 (GRCm39)	V281A	probably damaging	Het
Or8b12i	T	C	9: 20,082,561 (GRCm39)	Y102C	probably benign	Het
Pdzrn3	A	T	6: 101,128,014 (GRCm39)	I884N	probably damaging	Het
Phf24	G	T	4: 42,933,761 (GRCm39)	V48L	possibly damaging	Het
Pkn1	C	A	8: 84,398,953 (GRCm39)	C678F	probably damaging	Het
Pla2g4a	T	A	1: 149,716,398 (GRCm39)	M688L	possibly damaging	Het
Ppp1r3c	A	T	19: 36,711,617 (GRCm39)	F51Y	possibly damaging	Het
Psen2	T	C	1: 180,066,479 (GRCm39)	T153A	probably damaging	Het
Rbmx	C	T	X: 56,436,926 (GRCm39)		probably null	Het
Rbp3	A	G	14: 33,684,376 (GRCm39)	K1135R	possibly damaging	Het
Sncaip	A	G	18: 53,001,781 (GRCm39)	T101A	probably benign	Het
Ssh1	A	T	5: 114,084,766 (GRCm39)	D448E	probably benign	Het
Ssmem1	A	T	6: 30,519,547 (GRCm39)		probably null	Het
Stk11	T	C	10: 79,961,920 (GRCm39)	V47A	probably damaging	Het
Sv2b	T	G	7: 74,786,140 (GRCm39)	M427L	probably benign	Het
Syne1	A	G	10: 5,317,600 (GRCm39)	L498P	probably damaging	Het
Syne2	T	C	12: 75,900,923 (GRCm39)		probably null	Het
Taf6l	G	T	19: 8,755,885 (GRCm39)	H254Q	probably benign	Het
Tas2r123	T	C	6: 132,824,295 (GRCm39)	V64A	probably benign	Het
Tm9sf1	A	T	14: 55,878,886 (GRCm39)	F169I	possibly damaging	Het
Tmpo	A	C	10: 90,998,958 (GRCm39)	I276M	probably benign	Het
Tnnc1	A	G	14: 30,933,365 (GRCm39)	D149G	probably damaging	Het
Tpr	AAGAGAGAGAGAGAG	AAGAGAGAGAGAG	1: 150,299,418 (GRCm39)		probably null	Het
Traf3ip3	T	A	1: 192,860,539 (GRCm39)		probably null	Het
Trim55	G	T	3: 19,725,256 (GRCm39)	V258L	possibly damaging	Het
Trpm1	G	A	7: 63,873,506 (GRCm39)	G587D	probably damaging	Het
Ttn	A	G	2: 76,560,756 (GRCm39)	V29215A	probably damaging	Het
Ube2u	A	G	4: 100,343,870 (GRCm39)	I90V	probably benign	Het
Upb1	T	C	10: 75,250,917 (GRCm39)		probably null	Het
Vmn2r57	A	T	7: 41,077,216 (GRCm39)	S317T	possibly damaging	Het
Wdr73	G	A	7: 80,547,698 (GRCm39)	Q107*	probably null	Het
Zfp628	A	T	7: 4,922,732 (GRCm39)	Q318L	probably benign	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
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
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'- CTTGTTACCCCACCCACTTGGAAG -3'
(R):5'- ACTGTTGAGAAGCCAGTCGTTGC -3'

Sequencing Primer
(F):5'- CTTGGAAGCCCTAAGATCCC -3'
(R):5'- AGATGTAGGCTCTGAGACTTCCC -3'

Posted On

2013-05-23