Mutagenetix > Incidental Mutation

Incidental Mutation 'R9620:Slco2a1'

724723

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9620 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102885686-102973201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 102962065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 579 (C579S)

Ref Sequence

ENSEMBL: ENSMUSP00000035148 (fasta)

Gene Model

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

AlphaFold

Q9EPT5

Predicted Effect

probably damaging
Transcript: ENSMUST00000035148
AA Change: C579S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035148
Gene: ENSMUSG00000032548
AA Change: C579S

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: 99.9%
10x: 99.7%
20x: 99.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	G	T	18: 10,704,605 (GRCm39)	T151K	possibly damaging	Het
Acsf2	C	T	11: 94,463,412 (GRCm39)	W130*	probably null	Het
Aldh16a1	G	A	7: 44,797,413 (GRCm39)	R132*	probably null	Het
Amer3	C	T	1: 34,628,043 (GRCm39)	P761S	probably benign	Het
Amotl1	G	T	9: 14,459,969 (GRCm39)	D886E	probably damaging	Het
Cacna1s	T	C	1: 136,035,909 (GRCm39)	F1383S	probably damaging	Het
Col14a1	T	A	15: 55,225,781 (GRCm39)	V148E	unknown	Het
Col9a2	T	A	4: 120,910,403 (GRCm39)		probably null	Het
Cyp2a5	T	A	7: 26,536,636 (GRCm39)	M205K	possibly damaging	Het
Dcst2	A	T	3: 89,277,825 (GRCm39)	Q466L	possibly damaging	Het
Ecel1	T	C	1: 87,080,853 (GRCm39)	I350V	possibly damaging	Het
Enthd1	G	A	15: 80,336,901 (GRCm39)	T511I	probably benign	Het
Exoc6b	T	A	6: 84,988,302 (GRCm39)	K92*	probably null	Het
Fam181a	T	G	12: 103,282,591 (GRCm39)	Y165*	probably null	Het
Fbxo34	A	G	14: 47,768,725 (GRCm39)	Y746C	probably damaging	Het
Fgfr4	T	A	13: 55,308,994 (GRCm39)	S372T	possibly damaging	Het
Fmo1	A	G	1: 162,661,390 (GRCm39)	F298L	probably benign	Het
Gad1	A	C	2: 70,404,620 (GRCm39)	D170A	possibly damaging	Het
Garin2	A	C	12: 78,762,077 (GRCm39)	D247A	probably damaging	Het
Golgb1	T	C	16: 36,739,811 (GRCm39)	S2758P	probably benign	Het
Golm2	T	C	2: 121,737,242 (GRCm39)	V261A	probably benign	Het
H2az2	A	T	11: 6,379,094 (GRCm39)		probably null	Het
Ilkap	A	G	1: 91,303,973 (GRCm39)	C163R		Het
Krt9	A	T	11: 100,079,186 (GRCm39)	D735E	unknown	Het
Lipo3	A	T	19: 33,559,629 (GRCm39)	C80*	probably null	Het
Lpcat3	C	T	6: 124,680,543 (GRCm39)	P478L	probably damaging	Het
Luc7l3	G	A	11: 94,212,545 (GRCm39)	R24C	unknown	Het
Mafa	T	A	15: 75,619,161 (GRCm39)	H204L	probably benign	Het
Mapk10	A	C	5: 103,114,473 (GRCm39)	V305G	probably damaging	Het
Mgat1	T	C	11: 49,152,122 (GRCm39)	F202L	probably benign	Het
Mical2	A	T	7: 111,980,403 (GRCm39)	T126S	probably benign	Het
Mill1	G	A	7: 17,997,027 (GRCm39)	R206H	probably benign	Het
Nlrc5	A	T	8: 95,203,034 (GRCm39)	Y378F	probably benign	Het
Nlrp9a	G	T	7: 26,250,469 (GRCm39)	R78L	probably damaging	Het
Or10b1	G	T	10: 78,356,128 (GRCm39)	A229S	probably benign	Het
Or52i2	A	T	7: 102,320,011 (GRCm39)	I295F	possibly damaging	Het
Or8g50	A	T	9: 39,648,287 (GRCm39)	M59L		Het
Orc6	A	T	8: 86,026,430 (GRCm39)		probably benign	Het
Pate14	A	G	9: 36,548,498 (GRCm39)		probably null	Het
Pcdhgb5	C	T	18: 37,864,486 (GRCm39)	Q94*	probably null	Het
Pcnx1	A	G	12: 81,996,960 (GRCm39)	D952G	probably damaging	Het
Ppfia2	A	T	10: 106,749,519 (GRCm39)	H1135L		Het
Prmt2	A	T	10: 76,061,213 (GRCm39)	I91N	probably damaging	Het
Ptprm	A	G	17: 67,116,484 (GRCm39)	Y932H	probably damaging	Het
Qrich2	T	C	11: 116,337,946 (GRCm39)	K154R	probably damaging	Het
Rapgef4	A	G	2: 72,036,051 (GRCm39)	T515A	probably benign	Het
Rgmb	G	A	17: 16,041,279 (GRCm39)	R103*	probably null	Het
Ripk1	T	G	13: 34,210,806 (GRCm39)	S334A	possibly damaging	Het
Rnf5	C	T	17: 34,820,721 (GRCm39)	G147S	possibly damaging	Het
Ryr1	T	C	7: 28,715,138 (GRCm39)	Y4662C	unknown	Het
Secisbp2l	A	G	2: 125,589,394 (GRCm39)	M718T	probably damaging	Het
Slc16a6	T	C	11: 109,354,322 (GRCm39)	T100A	probably benign	Het
Slc27a6	T	A	18: 58,742,887 (GRCm39)	M525K	probably damaging	Het
Snx14	A	G	9: 88,263,794 (GRCm39)	S864P	probably damaging	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Sptbn2	T	C	19: 4,800,535 (GRCm39)	L2250P	probably damaging	Het
Tlr6	A	T	5: 65,112,146 (GRCm39)	S254T	possibly damaging	Het
Trap1	A	T	16: 3,858,083 (GRCm39)	Y675*	probably null	Het
Ttc9b	C	A	7: 27,353,512 (GRCm39)	A54E	probably damaging	Het
Unc45a	A	C	7: 79,975,403 (GRCm39)	Y934D	probably damaging	Het
Usp17ld	A	G	7: 102,900,179 (GRCm39)	L251P	possibly damaging	Het
Usp42	A	G	5: 143,703,154 (GRCm39)	V489A	probably damaging	Het
Vars1	A	G	17: 35,235,001 (GRCm39)	T1277A	unknown	Het
Vmn2r117	A	G	17: 23,697,450 (GRCm39)	S81P	probably damaging	Het
Vmn2r69	T	A	7: 85,061,504 (GRCm39)	I157F	probably benign	Het
Zfp697	A	G	3: 98,335,182 (GRCm39)	S316G	probably damaging	Het
Zfp729b	T	A	13: 67,739,787 (GRCm39)	H826L	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
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
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'- AGCTTTGCTGCAGCTTTCTG -3'
(R):5'- ATTTTGCCCCTTAGAAAGCTGAC -3'

Sequencing Primer
(F):5'- GCTTTCCCGAGTCACTGTG -3'
(R):5'- CGAAGAGCATCGTTGTCA -3'

Posted On

2022-09-12