Mutagenetix > Incidental Mutation

Incidental Mutation 'R7325:Slco2a1'

596106

Institutional Source

Beutler Lab

Gene Symbol

Slco2a1

Ensembl Gene

ENSMUSG00000032548

Gene Name

solute carrier organic anion transporter family, member 2a1

Synonyms

Pgt, mPgt, Slc21a2, 2310021C19Rik

MMRRC Submission

045419-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7325 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102885686-102973201 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 102962948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000035148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035148] [ENSMUST00000188664]

AlphaFold

Q9EPT5

Predicted Effect

probably null
Transcript: ENSMUST00000035148

SMART Domains

Protein: ENSMUSP00000035148
Gene: ENSMUSG00000032548

Domain	Start	End	E-Value	Type
Pfam:MFS_1	39	428	3.5e-22	PFAM
KAZAL	446	493	2.78e-2	SMART
transmembrane domain	605	627	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188664

SMART Domains

Protein: ENSMUSP00000140533
Gene: ENSMUSG00000032548

Domain	Start	End	E-Value	Type
Pfam:OATP	31	381	4.8e-135	PFAM
Pfam:MFS_1	39	413	1.8e-19	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a prostaglandin transporter that is a member of the 12-membrane-spanning superfamily of transporters. The encoded protein may be involved in mediating the uptake and clearance of prostaglandins in numerous tissues. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit preinatel or early psotnatal lethality due to a patent ductus arteriosus and abnormal protaglandin metabolism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	A	1: 25,571,711 (GRCm39)	Q402L	probably benign	Het
Afap1l1	T	C	18: 61,869,917 (GRCm39)	T638A	probably benign	Het
Agtr1a	A	C	13: 30,565,890 (GRCm39)	K318N	possibly damaging	Het
Anks1b	A	G	10: 90,777,294 (GRCm39)	T1095A	probably damaging	Het
Ap3d1	A	T	10: 80,559,637 (GRCm39)	I207N	probably damaging	Het
Arhgef11	T	C	3: 87,620,599 (GRCm39)	L484P	possibly damaging	Het
Astn2	C	T	4: 65,460,906 (GRCm39)	S1076N	probably benign	Het
Baat	C	A	4: 49,490,213 (GRCm39)	L290F	probably benign	Het
Boll	T	C	1: 55,343,757 (GRCm39)	Y222C	probably damaging	Het
Bphl	A	T	13: 34,234,324 (GRCm39)	I147F	possibly damaging	Het
Cadps2	T	G	6: 23,409,934 (GRCm39)	D766A	unknown	Het
Cd300lb	T	A	11: 114,815,858 (GRCm39)	K210M	probably damaging	Het
Cdan1	T	C	2: 120,555,185 (GRCm39)	Q797R	probably benign	Het
Celsr1	T	A	15: 85,917,209 (GRCm39)	S255C	probably damaging	Het
Cfap91	T	A	16: 38,141,963 (GRCm39)		probably null	Het
Cip2a	T	A	16: 48,826,184 (GRCm39)	M417K	probably benign	Het
Csmd1	G	A	8: 16,108,721 (GRCm39)	S1894L	probably damaging	Het
Dennd5b	T	A	6: 148,922,068 (GRCm39)	K815N	probably benign	Het
Exd1	A	G	2: 119,350,620 (GRCm39)	V547A	probably benign	Het
Fbxo15	C	T	18: 84,977,243 (GRCm39)	R52C	probably damaging	Het
Fip1l1	A	G	5: 74,697,460 (GRCm39)		probably null	Het
Flg2	T	A	3: 93,110,679 (GRCm39)	N902K	unknown	Het
Fyttd1	T	A	16: 32,704,618 (GRCm39)	N76K	probably benign	Het
Gins1	T	A	2: 150,758,086 (GRCm39)	D57E	probably benign	Het
Gm5565	G	C	5: 146,095,171 (GRCm39)		probably null	Het
Gpsm2	T	C	3: 108,610,244 (GRCm39)	Y72C	probably damaging	Het
Hace1	C	A	10: 45,465,603 (GRCm39)	S53*	probably null	Het
Insig2	A	G	1: 121,234,666 (GRCm39)	V188A	possibly damaging	Het
Ism1	T	C	2: 139,598,963 (GRCm39)	V312A	probably damaging	Het
Jmy	A	T	13: 93,609,251 (GRCm39)	Y353N	probably damaging	Het
Maz	A	C	7: 126,624,725 (GRCm39)	V265G	probably benign	Het
Mtmr14	T	A	6: 113,246,509 (GRCm39)	I426N	probably damaging	Het
Or1e34	C	T	11: 73,779,101 (GRCm39)	M32I	probably benign	Het
Or5b113	A	G	19: 13,342,001 (GRCm39)	E3G	probably benign	Het
Or8k22	A	G	2: 86,163,344 (GRCm39)	S119P	possibly damaging	Het
Pcdhac2	T	A	18: 37,278,413 (GRCm39)	N464K	probably damaging	Het
Pcdhb7	T	A	18: 37,476,440 (GRCm39)	H525Q	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Podn	C	T	4: 107,874,899 (GRCm39)		probably null	Het
Prim1	A	G	10: 127,858,788 (GRCm39)	D232G	probably null	Het
Prrt1	T	A	17: 34,851,161 (GRCm39)	M283K	possibly damaging	Het
Rgs9	A	T	11: 109,167,407 (GRCm39)	I65N	probably damaging	Het
Scgb2b26	C	A	7: 33,643,782 (GRCm39)	V53L	probably benign	Het
Shank2	C	A	7: 143,965,422 (GRCm39)	P1010Q	probably benign	Het
Slc12a4	C	T	8: 106,682,347 (GRCm39)	G121S	probably damaging	Het
Slc17a6	G	T	7: 51,294,766 (GRCm39)	A158S	probably damaging	Het
Slc9a9	C	T	9: 94,594,951 (GRCm39)	H154Y	probably benign	Het
Slco1a8	T	C	6: 141,934,951 (GRCm39)	K379E	probably damaging	Het
Snapc3	T	C	4: 83,353,507 (GRCm39)	I182T	probably benign	Het
Taok2	A	G	7: 126,470,260 (GRCm39)	V856A	probably benign	Het
Tep1	T	A	14: 51,103,495 (GRCm39)	N265I	probably damaging	Het
Tespa1	A	T	10: 130,197,910 (GRCm39)	N311Y	probably damaging	Het
Tpmt	G	A	13: 47,194,960 (GRCm39)	Q14*	probably null	Het
Trim33	T	C	3: 103,228,952 (GRCm39)	F353L	possibly damaging	Het
Upp1	T	C	11: 9,084,743 (GRCm39)	V154A	probably damaging	Het
Usp34	T	C	11: 23,369,052 (GRCm39)	I1747T		Het
Vmn1r47	T	C	6: 89,999,254 (GRCm39)	S129P	probably benign	Het
Vmn2r93	A	G	17: 18,524,249 (GRCm39)	Y81C	probably benign	Het
Ybx2	A	T	11: 69,831,181 (GRCm39)	T259S	probably benign	Het
Zfp536	T	C	7: 37,179,285 (GRCm39)	T1107A	probably benign	Het
Zfp583	C	T	7: 6,319,585 (GRCm39)	A476T	probably damaging	Het

Other mutations in Slco2a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Slco2a1	APN	9	102,956,640 (GRCm39)	splice site	probably benign
IGL01481:Slco2a1	APN	9	102,947,450 (GRCm39)	missense	probably damaging	1.00
IGL01647:Slco2a1	APN	9	102,947,495 (GRCm39)	missense	possibly damaging	0.57
IGL01885:Slco2a1	APN	9	102,951,629 (GRCm39)	missense	probably damaging	1.00
IGL02150:Slco2a1	APN	9	102,962,017 (GRCm39)	missense	probably damaging	1.00
IGL02508:Slco2a1	APN	9	102,951,615 (GRCm39)	missense	probably benign
IGL02578:Slco2a1	APN	9	102,923,957 (GRCm39)	missense	probably damaging	1.00
IGL02622:Slco2a1	APN	9	102,954,128 (GRCm39)	nonsense	probably null
IGL02898:Slco2a1	APN	9	102,956,805 (GRCm39)	missense	probably damaging	1.00
IGL03101:Slco2a1	APN	9	102,954,205 (GRCm39)	missense	possibly damaging	0.69
PIT4431001:Slco2a1	UTSW	9	102,927,467 (GRCm39)	missense	probably damaging	1.00
R0410:Slco2a1	UTSW	9	102,950,513 (GRCm39)	critical splice donor site	probably null
R0831:Slco2a1	UTSW	9	102,959,533 (GRCm39)	missense	probably damaging	0.99
R0885:Slco2a1	UTSW	9	102,959,582 (GRCm39)	missense	probably damaging	0.98
R1975:Slco2a1	UTSW	9	102,956,653 (GRCm39)	nonsense	probably null
R2095:Slco2a1	UTSW	9	102,954,167 (GRCm39)	missense	probably benign	0.22
R4072:Slco2a1	UTSW	9	102,945,201 (GRCm39)	missense	probably damaging	1.00
R4105:Slco2a1	UTSW	9	102,950,449 (GRCm39)	missense	probably damaging	1.00
R4105:Slco2a1	UTSW	9	102,945,075 (GRCm39)	missense	probably benign	0.01
R4804:Slco2a1	UTSW	9	102,950,383 (GRCm39)	missense	probably damaging	1.00
R4881:Slco2a1	UTSW	9	102,963,031 (GRCm39)	missense	possibly damaging	0.71
R5073:Slco2a1	UTSW	9	102,923,925 (GRCm39)	missense	probably damaging	1.00
R5124:Slco2a1	UTSW	9	102,927,365 (GRCm39)	missense	probably damaging	1.00
R5147:Slco2a1	UTSW	9	102,927,468 (GRCm39)	missense	probably damaging	1.00
R5317:Slco2a1	UTSW	9	102,956,778 (GRCm39)	missense	probably benign	0.01
R5363:Slco2a1	UTSW	9	102,947,462 (GRCm39)	missense	probably damaging	0.99
R5381:Slco2a1	UTSW	9	102,945,213 (GRCm39)	missense	probably damaging	1.00
R5732:Slco2a1	UTSW	9	102,927,455 (GRCm39)	missense	probably damaging	1.00
R5736:Slco2a1	UTSW	9	102,945,029 (GRCm39)	missense	probably benign	0.00
R5924:Slco2a1	UTSW	9	102,923,898 (GRCm39)	nonsense	probably null
R5945:Slco2a1	UTSW	9	102,923,989 (GRCm39)	missense	probably damaging	1.00
R6293:Slco2a1	UTSW	9	102,927,346 (GRCm39)	missense	probably benign	0.30
R6386:Slco2a1	UTSW	9	102,954,187 (GRCm39)	missense	probably benign
R6622:Slco2a1	UTSW	9	102,951,704 (GRCm39)	missense	possibly damaging	0.84
R7484:Slco2a1	UTSW	9	102,945,185 (GRCm39)	missense	probably damaging	1.00
R8395:Slco2a1	UTSW	9	102,954,239 (GRCm39)	missense	probably benign	0.12
R8985:Slco2a1	UTSW	9	102,949,834 (GRCm39)	critical splice donor site	probably null
R9127:Slco2a1	UTSW	9	102,945,243 (GRCm39)	missense	probably damaging	1.00
R9141:Slco2a1	UTSW	9	102,945,254 (GRCm39)	splice site	probably benign
R9620:Slco2a1	UTSW	9	102,962,065 (GRCm39)	missense	probably damaging	1.00
R9695:Slco2a1	UTSW	9	102,962,139 (GRCm39)	missense	possibly damaging	0.80
Z1088:Slco2a1	UTSW	9	102,956,726 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GGCAGCTGAAAGATACAGACCC -3'
(R):5'- AGGGGTAGGATATCCAGTCTCTG -3'

Sequencing Primer
(F):5'- ACCTCTGGCCATCAGTGATG -3'
(R):5'- TCTGGGGCAGGGCAGTAG -3'

Posted On

2019-11-18