Mutagenetix > Incidental Mutation

Incidental Mutation 'R5073:Slco2a1'

388986

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

042662-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5073 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102885686-102973201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 102923925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 46 (L46F)

Ref Sequence

ENSEMBL: ENSMUSP00000140533 (fasta)

Gene Model

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

AlphaFold

Q9EPT5

Predicted Effect

probably damaging
Transcript: ENSMUST00000035148
AA Change: L46F

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

SMART Domains

Protein: ENSMUSP00000035148
Gene: ENSMUSG00000032548
AA Change: L46F

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: L46F

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

SMART Domains

Protein: ENSMUSP00000140533
Gene: ENSMUSG00000032548
AA Change: L46F

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 92.6%

Validation Efficiency

100% (113/113)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	T	17: 24,593,274 (GRCm39)	R224C	probably damaging	Het
Adcy8	A	T	15: 64,659,207 (GRCm39)	W528R	probably damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
Ahnak	T	A	19: 8,980,595 (GRCm39)	H626Q	probably benign	Het
Ampd2	A	T	3: 107,986,549 (GRCm39)	M245K	probably damaging	Het
Apob	G	A	12: 8,055,219 (GRCm39)		probably null	Het
Apool	C	T	X: 111,259,540 (GRCm39)	Q60*	probably null	Het
Aqp1	A	T	6: 55,322,520 (GRCm39)	I172F	probably damaging	Het
Atp7a	A	G	X: 105,153,374 (GRCm39)	D1092G	probably benign	Het
Bcas3	A	G	11: 85,261,958 (GRCm39)	Y110C	probably damaging	Het
Brpf1	T	C	6: 113,287,215 (GRCm39)	S148P	probably damaging	Het
Capn3	A	G	2: 120,322,301 (GRCm39)	H339R	probably damaging	Het
Ccdc141	A	T	2: 76,954,722 (GRCm39)		probably null	Het
Ccl2	A	G	11: 81,927,984 (GRCm39)		probably benign	Het
Cct8l1	G	A	5: 25,721,881 (GRCm39)	V199I	probably benign	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cit	T	A	5: 116,084,902 (GRCm39)	M811K	probably benign	Het
Crim1	T	C	17: 78,588,776 (GRCm39)	C284R	possibly damaging	Het
Cyp2d10	C	T	15: 82,287,954 (GRCm39)	R383H	probably benign	Het
Cyp4a29	A	G	4: 115,104,860 (GRCm39)	T123A	probably benign	Het
Dbndd2	A	G	2: 164,332,224 (GRCm39)		probably benign	Het
Dnaja3	A	T	16: 4,514,289 (GRCm39)	T274S	probably damaging	Het
Dot1l	A	G	10: 80,620,480 (GRCm39)	D514G	possibly damaging	Het
Dysf	A	T	6: 84,114,254 (GRCm39)	K1226M	probably damaging	Het
Eef1akmt1	A	G	14: 57,803,464 (GRCm39)	L30P	probably damaging	Het
Elavl1	A	G	8: 4,351,741 (GRCm39)	M125T	possibly damaging	Het
Eml4	C	A	17: 83,771,006 (GRCm39)	S723R	probably damaging	Het
Fgf15	A	C	7: 144,450,576 (GRCm39)	Y54S	possibly damaging	Het
Fign	A	T	2: 63,810,037 (GRCm39)	L411*	probably null	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Fryl	G	A	5: 73,232,110 (GRCm39)	P1550L	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gprasp2	C	T	X: 134,743,346 (GRCm39)	T235I	possibly damaging	Het
H2ab3	T	C	X: 119,222,543 (GRCm39)	T84A	probably damaging	Het
Hal	A	T	10: 93,349,904 (GRCm39)	I555F	probably damaging	Het
Hdac6	A	G	X: 7,811,036 (GRCm39)	F104L	probably damaging	Het
Hibadh	C	T	6: 52,597,079 (GRCm39)	V122M	possibly damaging	Het
Hmga1b	C	T	11: 120,654,012 (GRCm39)	Q100*	probably null	Het
Hydin	A	G	8: 111,265,105 (GRCm39)	N2763D	probably benign	Het
Ifi47	A	G	11: 48,986,361 (GRCm39)	T43A	probably benign	Het
Ifnlr1	A	G	4: 135,432,457 (GRCm39)	T298A	probably benign	Het
Impdh2	G	A	9: 108,440,535 (GRCm39)		probably null	Het
Insr	A	G	8: 3,209,475 (GRCm39)	F1203L	probably damaging	Het
Kcnq4	A	G	4: 120,574,714 (GRCm39)	S117P	probably damaging	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Kif1a	T	C	1: 92,950,227 (GRCm39)	H1400R	probably damaging	Het
Kiss1r	C	A	10: 79,754,596 (GRCm39)	S30*	probably null	Het
Krt222	T	A	11: 99,134,796 (GRCm39)		probably benign	Het
Lekr1	A	T	3: 65,727,215 (GRCm39)		noncoding transcript	Het
Ltn1	A	G	16: 87,224,628 (GRCm39)	V32A	probably damaging	Het
Marchf1	T	A	8: 66,839,020 (GRCm39)	W21R	probably benign	Het
Marchf5	A	G	19: 37,188,207 (GRCm39)	N58S	possibly damaging	Het
Mast4	G	A	13: 102,875,391 (GRCm39)	Q1158*	probably null	Het
Mib2	C	G	4: 155,741,233 (GRCm39)	A535P	probably damaging	Het
Mrtfa	A	G	15: 80,906,627 (GRCm39)	V91A	probably damaging	Het
Msc	C	T	1: 14,824,537 (GRCm39)	V178M	probably benign	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Muc5b	A	T	7: 141,412,999 (GRCm39)	T1982S	unknown	Het
Mvk	A	T	5: 114,591,013 (GRCm39)		probably benign	Het
Myo1a	T	C	10: 127,543,288 (GRCm39)		probably null	Het
Myo6	T	G	9: 80,195,290 (GRCm39)	S887A	probably benign	Het
Myo7a	G	A	7: 97,722,425 (GRCm39)	Q1167*	probably null	Het
Ncald	A	T	15: 37,397,478 (GRCm39)	H67Q	probably damaging	Het
Nmnat1	C	A	4: 149,553,595 (GRCm39)	M172I	probably benign	Het
Nudt1	G	T	5: 140,317,662 (GRCm39)		probably null	Het
Nudt5	T	A	2: 5,869,198 (GRCm39)	H141Q	probably benign	Het
Or1m1	T	C	9: 18,666,118 (GRCm39)	E271G	possibly damaging	Het
Or4e1	T	A	14: 52,701,032 (GRCm39)	M118L	probably damaging	Het
Or8h10	A	T	2: 86,808,666 (GRCm39)	V158D	possibly damaging	Het
Parp14	A	T	16: 35,655,077 (GRCm39)	I1798K	probably damaging	Het
Pcdhga7	A	G	18: 37,849,025 (GRCm39)	D344G	probably damaging	Het
Pck1	A	G	2: 172,998,770 (GRCm39)	T343A	probably benign	Het
Pik3c2g	T	A	6: 139,665,873 (GRCm39)	C65S	probably null	Het
Pilra	A	G	5: 137,833,674 (GRCm39)	F131L	probably damaging	Het
Ppl	A	T	16: 4,906,742 (GRCm39)	S1184R	probably benign	Het
Prmt2	C	T	10: 76,058,390 (GRCm39)	V140I	probably damaging	Het
Prpf38b	A	G	3: 108,818,484 (GRCm39)	F92S	probably damaging	Het
Psmc3	A	G	2: 90,884,915 (GRCm39)		probably benign	Het
Ptgs1	A	T	2: 36,141,272 (GRCm39)	N573I	probably damaging	Het
Rgs9	C	A	11: 109,118,157 (GRCm39)	A332S	probably benign	Het
Rptor	T	C	11: 119,787,305 (GRCm39)	I1290T	possibly damaging	Het
Slc38a7	C	A	8: 96,568,278 (GRCm39)	R369L	probably damaging	Het
Slc4a2	G	A	5: 24,643,760 (GRCm39)	S855N	probably benign	Het
Snrpd3	G	T	10: 75,355,227 (GRCm39)	C20F	possibly damaging	Het
Stab2	A	T	10: 86,699,422 (GRCm39)	I481N	probably benign	Het
Tbc1d9	A	G	8: 83,960,176 (GRCm39)	E143G	probably damaging	Het
Tenm2	T	A	11: 35,959,208 (GRCm39)	T1114S	probably damaging	Het
Tg	A	C	15: 66,607,101 (GRCm39)	M213L	probably benign	Het
Tnc	A	G	4: 63,938,648 (GRCm39)	C64R	probably damaging	Het
Tpd52l1	A	G	10: 31,233,916 (GRCm39)	L79S	probably damaging	Het
Tpp2	C	A	1: 43,993,896 (GRCm39)	S260R	possibly damaging	Het
Tppp2	G	A	14: 52,157,912 (GRCm39)	R119Q	probably benign	Het
Tshz2	A	T	2: 169,804,493 (GRCm39)		probably benign	Het
Tuba8	T	C	6: 121,199,862 (GRCm39)	V182A	probably damaging	Het
Ufl1	A	G	4: 25,254,780 (GRCm39)	Y559H	probably benign	Het
Usp53	A	T	3: 122,727,595 (GRCm39)	S996T	probably benign	Het
Vcam1	A	G	3: 115,918,037 (GRCm39)	V308A	probably damaging	Het
Wdr17	T	A	8: 55,143,271 (GRCm39)		probably null	Het
Wdr6	G	A	9: 108,451,565 (GRCm39)	H773Y	probably damaging	Het
Wnk4	T	G	11: 101,152,014 (GRCm39)	F173V	probably damaging	Het
Xrcc5	T	C	1: 72,378,188 (GRCm39)	Y395H	probably damaging	Het
Zcwpw1	T	A	5: 137,793,781 (GRCm39)	M1K	probably null	Het
Zfp263	A	G	16: 3,564,704 (GRCm39)	R240G	possibly damaging	Het
Zfp652	A	G	11: 95,640,890 (GRCm39)	I272V	possibly 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
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'- CTCAGAACCATCCATGAAGTGTTTC -3'
(R):5'- ATGACCTAACCTGGCAAGAGC -3'

Sequencing Primer
(F):5'- TGTTTCCATGAAGAGACAGTGCC -3'
(R):5'- GGCAGTAAACATCTGTCTGCTATGC -3'

Posted On

2016-06-06