Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02578:Slco2a1'

299270

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slco2a1

Ensembl Gene

ENSMUSG00000032548

Gene Name

solute carrier organic anion transporter family, member 2a1

Synonyms

Pgt, mPgt, 2310021C19Rik, Slc21a2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02578

Quality Score

Status

Chromosome

Chromosomal Location

102988712-103096002 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103046758 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 57 (T57I)

Ref Sequence

ENSEMBL: ENSMUSP00000140533 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000035148
AA Change: T57I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035148
Gene: ENSMUSG00000032548
AA Change: T57I

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 damaging
Transcript: ENSMUST00000188664
AA Change: T57I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140533
Gene: ENSMUSG00000032548
AA Change: T57I

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

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	A	7: 120,423,956		probably null	Het
Ago1	T	A	4: 126,439,531	D545V	probably benign	Het
Arid2	T	C	15: 96,372,235	S1410P	probably benign	Het
Cbfa2t3	T	A	8: 122,633,448	D488V	possibly damaging	Het
Cdx2	T	C	5: 147,303,284	D194G	probably damaging	Het
Cyp4a32	A	G	4: 115,609,742	Q208R	possibly damaging	Het
Degs1	A	C	1: 182,279,027	Y222*	probably null	Het
Dnah7a	T	A	1: 53,432,915	E3564D	probably benign	Het
Dsg4	A	T	18: 20,471,193	I906F	possibly damaging	Het
Elovl3	A	G	19: 46,134,693	H236R	possibly damaging	Het
Fam159a	C	T	4: 108,368,028	M112I	probably benign	Het
Foxp2	A	G	6: 15,376,815		probably benign	Het
Gm9892	A	T	8: 52,196,293		noncoding transcript	Het
Herc2	A	G	7: 56,106,535		probably null	Het
Hhat	A	G	1: 192,693,913	V304A	probably damaging	Het
Il16	C	T	7: 83,677,986		probably null	Het
Kansl1l	G	A	1: 66,801,689	Q151*	probably null	Het
Kmt2c	G	T	5: 25,366,200		probably benign	Het
Krt39	T	C	11: 99,521,206	N18S	probably benign	Het
Lcor	G	T	19: 41,559,150	G391V	probably damaging	Het
Mical2	A	T	7: 112,351,373	T845S	probably benign	Het
Mon1b	G	T	8: 113,638,823	R261L	possibly damaging	Het
Mphosph8	C	T	14: 56,674,210	A230V	probably benign	Het
Myh2	T	A	11: 67,186,691	M884K	probably benign	Het
Nlrp3	T	C	11: 59,548,401	L268P	probably damaging	Het
Ntng1	T	A	3: 110,135,394	T39S	probably benign	Het
Olfr1043	A	T	2: 86,162,729	Y73*	probably null	Het
Olfr1124	T	A	2: 87,435,057	I190K	probably damaging	Het
Olfr342	A	C	2: 36,528,144	H244P	probably damaging	Het
Pde4b	T	A	4: 102,255,297	M26K	possibly damaging	Het
Polh	G	A	17: 46,194,292	Q133*	probably null	Het
Postn	A	T	3: 54,377,204	N647I	possibly damaging	Het
Scimp	T	A	11: 70,791,561	I110F	possibly damaging	Het
Sell	A	G	1: 164,065,596	D127G	probably damaging	Het
Serpinb12	G	A	1: 106,955,490		probably null	Het
She	A	G	3: 89,832,066	E188G	probably damaging	Het
Slc22a1	T	C	17: 12,667,239	Y169C	probably damaging	Het
Sox2	A	T	3: 34,650,596	M61L	probably benign	Het
Sra1	G	A	18: 36,670,097	Q32*	probably null	Het
Syne2	T	A	12: 76,022,279	S4340T	possibly damaging	Het
Ucn	A	C	5: 31,138,394	W43G	possibly damaging	Het
Xdh	C	T	17: 73,906,246	M836I	probably damaging	Het
Xirp2	T	A	2: 67,511,247	D1277E	probably damaging	Het

Other mutations in Slco2a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Slco2a1	APN	9	103079441	splice site	probably benign
IGL01481:Slco2a1	APN	9	103070251	missense	probably damaging	1.00
IGL01647:Slco2a1	APN	9	103070296	missense	possibly damaging	0.57
IGL01885:Slco2a1	APN	9	103074430	missense	probably damaging	1.00
IGL02150:Slco2a1	APN	9	103084818	missense	probably damaging	1.00
IGL02508:Slco2a1	APN	9	103074416	missense	probably benign
IGL02622:Slco2a1	APN	9	103076929	nonsense	probably null
IGL02898:Slco2a1	APN	9	103079606	missense	probably damaging	1.00
IGL03101:Slco2a1	APN	9	103077006	missense	possibly damaging	0.69
PIT4431001:Slco2a1	UTSW	9	103050268	missense	probably damaging	1.00
R0410:Slco2a1	UTSW	9	103073314	critical splice donor site	probably null
R0831:Slco2a1	UTSW	9	103082334	missense	probably damaging	0.99
R0885:Slco2a1	UTSW	9	103082383	missense	probably damaging	0.98
R1975:Slco2a1	UTSW	9	103079454	nonsense	probably null
R2095:Slco2a1	UTSW	9	103076968	missense	probably benign	0.22
R4072:Slco2a1	UTSW	9	103068002	missense	probably damaging	1.00
R4105:Slco2a1	UTSW	9	103067876	missense	probably benign	0.01
R4105:Slco2a1	UTSW	9	103073250	missense	probably damaging	1.00
R4804:Slco2a1	UTSW	9	103073184	missense	probably damaging	1.00
R4881:Slco2a1	UTSW	9	103085832	missense	possibly damaging	0.71
R5073:Slco2a1	UTSW	9	103046726	missense	probably damaging	1.00
R5124:Slco2a1	UTSW	9	103050166	missense	probably damaging	1.00
R5147:Slco2a1	UTSW	9	103050269	missense	probably damaging	1.00
R5317:Slco2a1	UTSW	9	103079579	missense	probably benign	0.01
R5363:Slco2a1	UTSW	9	103070263	missense	probably damaging	0.99
R5381:Slco2a1	UTSW	9	103068014	missense	probably damaging	1.00
R5732:Slco2a1	UTSW	9	103050256	missense	probably damaging	1.00
R5736:Slco2a1	UTSW	9	103067830	missense	probably benign	0.00
R5924:Slco2a1	UTSW	9	103046699	nonsense	probably null
R5945:Slco2a1	UTSW	9	103046790	missense	probably damaging	1.00
R6293:Slco2a1	UTSW	9	103050147	missense	probably benign	0.30
R6386:Slco2a1	UTSW	9	103076988	missense	probably benign
R6622:Slco2a1	UTSW	9	103074505	missense	possibly damaging	0.84
R7325:Slco2a1	UTSW	9	103085749	splice site	probably null
R7484:Slco2a1	UTSW	9	103067986	missense	probably damaging	1.00
Z1088:Slco2a1	UTSW	9	103079527	missense	probably benign	0.03

Posted On

2015-04-16