Mutagenetix > Incidental Mutation

Incidental Mutation 'R1975:Slco2a1'

221593

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

039988-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102885686-102973201 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 102956653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 488 (Y488*)

Ref Sequence

ENSEMBL: ENSMUSP00000035148 (fasta)

Gene Model

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

AlphaFold

Q9EPT5

Predicted Effect

probably null
Transcript: ENSMUST00000035148
AA Change: Y488*

SMART Domains

Protein: ENSMUSP00000035148
Gene: ENSMUSG00000032548
AA Change: Y488*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215971

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

96% (71/74)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	T	C	5: 121,742,322 (GRCm39)	T429A	probably benign	Het
Afmid	A	C	11: 117,727,300 (GRCm39)	I275L	probably benign	Het
Aimp1	A	C	3: 132,382,860 (GRCm39)	D5E	possibly damaging	Het
Aldob	G	A	4: 49,538,171 (GRCm39)	A319V	probably benign	Het
Ankar	C	T	1: 72,697,600 (GRCm39)	V1068I	possibly damaging	Het
Ccr2	C	T	9: 123,906,830 (GRCm39)	S370L	probably benign	Het
Chrnb4	A	G	9: 54,942,102 (GRCm39)	Y391H	probably damaging	Het
Clip1	A	G	5: 123,761,281 (GRCm39)	M873T	possibly damaging	Het
Cspg4	G	C	9: 56,797,762 (GRCm39)	G1409R	probably damaging	Het
Dnah17	A	T	11: 117,987,362 (GRCm39)	L1320*	probably null	Het
Dock4	T	C	12: 40,829,641 (GRCm39)		probably benign	Het
Eml4	T	C	17: 83,717,622 (GRCm39)	S65P	probably benign	Het
Fblim1	A	T	4: 141,312,175 (GRCm39)	D183E	probably damaging	Het
Foxn1	T	C	11: 78,256,763 (GRCm39)		probably benign	Het
Gm973	A	T	1: 59,601,930 (GRCm39)	T515S	possibly damaging	Het
Hdac7	G	A	15: 97,704,386 (GRCm39)	Q495*	probably null	Het
Hipk3	T	C	2: 104,301,518 (GRCm39)	I225V	probably benign	Het
Hrc	A	T	7: 44,985,638 (GRCm39)	D263V	probably damaging	Het
Hs6st3	T	C	14: 119,375,888 (GRCm39)	I21T	probably benign	Het
Il15ra	A	G	2: 11,728,334 (GRCm39)	T133A	possibly damaging	Het
Krt78	T	C	15: 101,854,603 (GRCm39)	*1069W	probably null	Het
Lama3	T	A	18: 12,586,920 (GRCm39)	M761K	probably damaging	Het
Lonp1	T	C	17: 56,922,068 (GRCm39)	T771A	possibly damaging	Het
Macf1	T	C	4: 123,383,005 (GRCm39)	T1320A	probably damaging	Het
Mark3	A	T	12: 111,581,875 (GRCm39)	I115L	probably damaging	Het
Mcph1	T	G	8: 18,739,081 (GRCm39)		probably benign	Het
Med23	T	A	10: 24,786,664 (GRCm39)	N923K	probably benign	Het
Msrb2	T	G	2: 19,398,032 (GRCm39)	Y97D	probably damaging	Het
Muc6	C	T	7: 141,234,368 (GRCm39)	G708S	probably damaging	Het
Mylk	T	C	16: 34,700,673 (GRCm39)		probably null	Het
Nfrkb	T	A	9: 31,325,980 (GRCm39)	V1141E	possibly damaging	Het
Obscn	T	C	11: 58,958,555 (GRCm39)	E3675G	probably damaging	Het
Or11h7	T	A	14: 50,890,821 (GRCm39)	N42K	probably damaging	Het
Or2l5	G	A	16: 19,333,586 (GRCm39)	P267S	probably damaging	Het
Or2t6	A	T	14: 14,175,446 (GRCm38)	V212E	probably damaging	Het
Or51aa2	A	T	7: 103,188,201 (GRCm39)	F80Y	probably damaging	Het
Or52z14	A	G	7: 103,253,219 (GRCm39)		probably null	Het
Or5ac21	T	C	16: 59,124,091 (GRCm39)	S193P	probably damaging	Het
Or8k21	C	G	2: 86,145,498 (GRCm39)	G44A	probably damaging	Het
Pan2	T	C	10: 128,156,282 (GRCm39)	V1171A	probably damaging	Het
Pdgfc	C	T	3: 81,116,552 (GRCm39)	T302I	probably damaging	Het
Pkhd1l1	G	T	15: 44,393,109 (GRCm39)	V1815F	probably damaging	Het
Pnpt1	A	G	11: 29,091,256 (GRCm39)	I337V	probably benign	Het
Psma8	T	G	18: 14,864,033 (GRCm39)		probably null	Het
Rbl2	T	C	8: 91,812,090 (GRCm39)	S220P	probably benign	Het
Rere	T	A	4: 150,700,190 (GRCm39)	D1091E	probably damaging	Het
Rpa1	A	G	11: 75,197,002 (GRCm39)	C540R	probably damaging	Het
Sema3d	T	A	5: 12,613,285 (GRCm39)	V454E	probably damaging	Het
Sema3d	T	C	5: 12,634,965 (GRCm39)	V677A	probably benign	Het
Sgk2	A	G	2: 162,846,080 (GRCm39)	N207S	probably benign	Het
Sirpb1a	T	C	3: 15,444,141 (GRCm39)	I370V	probably benign	Het
Slc22a19	A	G	19: 7,661,224 (GRCm39)		probably benign	Het
Slc26a1	T	A	5: 108,820,338 (GRCm39)	D287V	probably damaging	Het
Slc36a4	T	A	9: 15,645,506 (GRCm39)	V311D	probably damaging	Het
Slco1b2	A	T	6: 141,628,951 (GRCm39)	Y551F	probably damaging	Het
Stab2	A	C	10: 86,732,360 (GRCm39)		probably null	Het
Strn	T	C	17: 78,999,928 (GRCm39)		probably null	Het
Tbxas1	A	G	6: 38,925,575 (GRCm39)		probably benign	Het
Thumpd3	A	G	6: 113,032,838 (GRCm39)	N192S	possibly damaging	Het
Tns3	T	A	11: 8,385,738 (GRCm39)	I1386F	probably benign	Het
Treml4	T	A	17: 48,579,821 (GRCm39)	V219E	probably damaging	Het
Triobp	T	C	15: 78,850,908 (GRCm39)	V354A	probably benign	Het
Tspan8	A	G	10: 115,680,035 (GRCm39)	I217V	probably benign	Het
Tub	G	A	7: 108,627,042 (GRCm39)	G314R	possibly damaging	Het
Ube3b	C	T	5: 114,537,926 (GRCm39)	T339M	possibly damaging	Het
Vmn2r43	A	G	7: 8,258,550 (GRCm39)	I221T	possibly damaging	Het
Vmn2r5	C	T	3: 64,411,642 (GRCm39)	E309K	probably damaging	Het
Zfp110	C	T	7: 12,582,429 (GRCm39)	T359I	probably benign	Het
Zfp322a	A	T	13: 23,541,074 (GRCm39)	C223S	probably damaging	Het
Zfp512b	G	A	2: 181,228,878 (GRCm39)	R696*	probably null	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
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
R7325:Slco2a1	UTSW	9	102,962,948 (GRCm39)	splice site	probably null
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'- TGGGGCACTCTAAAACCCTC -3'
(R):5'- CTCTGAGTAGGAGACAGGATGTAC -3'

Sequencing Primer
(F):5'- GGGGCACTCTAAAACCCTCATCTG -3'
(R):5'- GCCAGAGGCTCAGAGATTTCACTC -3'

Posted On

2014-08-25