Mutagenetix > Incidental Mutation

Incidental Mutation 'R7373:Slc22a15'

572206

Institutional Source

Beutler Lab

Gene Symbol

Slc22a15

Ensembl Gene

ENSMUSG00000033147

Gene Name

solute carrier family 22 (organic anion/cation transporter), member 15

Synonyms

2610034P21Rik, A530052I06Rik

MMRRC Submission

045456-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R7373 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101763092-101831769 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 101785213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 353 (L353R)

Ref Sequence

ENSEMBL: ENSMUSP00000102541 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106928] [ENSMUST00000183255] [ENSMUST00000190824]

AlphaFold

Q504N2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106928
AA Change: L353R

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102541
Gene: ENSMUSG00000033147
AA Change: L353R

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Sugar_tr	58	495	6.9e-29	PFAM
Pfam:MFS_1	69	450	3.4e-24	PFAM
low complexity region	524	532	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183255

SMART Domains

Protein: ENSMUSP00000138357
Gene: ENSMUSG00000033147

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Sugar_tr	56	244	5.2e-13	PFAM
Pfam:MFS_1	69	244	7.6e-13	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190824
AA Change: L198R

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000139518
Gene: ENSMUSG00000033147
AA Change: L198R

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
Pfam:Sugar_tr	88	341	3.3e-5	PFAM
low complexity region	369	377	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (57/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Organic ion transporters, such as SLC22A15, transport various medically and physiologically important compounds, including pharmaceuticals, toxins, hormones, neurotransmitters, and cellular metabolites. These transporters are also referred to as amphiphilic solute facilitators (ASFs).[supplied by OMIM, Apr 2004]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	G	A	11: 50,686,262 (GRCm39)	A1027T	probably benign	Het
Aldh7a1	G	A	18: 56,675,389 (GRCm39)	T260M	possibly damaging	Het
Anks3	T	C	16: 4,773,735 (GRCm39)	Y187C	probably benign	Het
Atp2c2	A	T	8: 120,456,991 (GRCm39)	I198F	probably benign	Het
Bsn	T	C	9: 107,990,683 (GRCm39)	T1690A	probably damaging	Het
Catsper3	T	C	13: 55,955,945 (GRCm39)	I350T	possibly damaging	Het
Cdcp1	C	T	9: 123,006,965 (GRCm39)	R594H	probably damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cldn1	G	T	16: 26,179,606 (GRCm39)	P154T	probably damaging	Het
Cntnap5a	A	T	1: 116,508,367 (GRCm39)	N1293I	probably benign	Het
Cpsf4l	C	T	11: 113,590,657 (GRCm39)		probably null	Het
Crybg1	T	C	10: 43,880,136 (GRCm39)	T351A	probably benign	Het
Csmd1	T	C	8: 16,042,713 (GRCm39)	N2340S	probably damaging	Het
Dennd4a	C	A	9: 64,804,551 (GRCm39)	Q1297K	probably benign	Het
Dll3	A	G	7: 27,994,057 (GRCm39)	V460A	probably benign	Het
Dnah8	T	C	17: 30,986,939 (GRCm39)		probably null	Het
Dst	G	T	1: 34,227,472 (GRCm39)	L1688F	probably benign	Het
Ehmt1	A	G	2: 24,809,585 (GRCm39)	M1T	probably null	Het
Fasn	A	T	11: 120,704,802 (GRCm39)	L1261Q	possibly damaging	Het
Fat1	A	G	8: 45,479,702 (GRCm39)	D2916G	probably damaging	Het
Fgfr3	C	A	5: 33,885,034 (GRCm39)	F49L	probably benign	Het
Hlx	T	C	1: 184,463,062 (GRCm39)	T197A	probably benign	Het
Hormad1	A	T	3: 95,483,628 (GRCm39)	T147S	probably damaging	Het
Igf1r	T	A	7: 67,844,826 (GRCm39)	Y866*	probably null	Het
Itgb8	A	G	12: 119,166,210 (GRCm39)	V107A	probably benign	Het
Kat2a	C	T	11: 100,599,392 (GRCm39)	A533T	probably benign	Het
Kif20b	T	C	19: 34,913,071 (GRCm39)	L328P	probably damaging	Het
Lims1	T	C	10: 58,245,442 (GRCm39)	F157S	probably damaging	Het
Lrp2	G	T	2: 69,331,036 (GRCm39)	H1673Q	probably damaging	Het
Lrrc46	C	A	11: 96,929,706 (GRCm39)	M43I	probably benign	Het
Lrrk2	T	C	15: 91,584,207 (GRCm39)		probably null	Het
Meox2	A	T	12: 37,158,797 (GRCm39)		probably benign	Het
Mff	A	G	1: 82,714,838 (GRCm39)		probably null	Het
Mfsd5	T	A	15: 102,189,427 (GRCm39)	F266L	probably damaging	Het
Miga2	A	G	2: 30,272,083 (GRCm39)	T468A	probably damaging	Het
Mmel1	T	A	4: 154,973,665 (GRCm39)	L316Q	not run	Het
Ndufa9	C	A	6: 126,811,421 (GRCm39)	G232C	probably damaging	Het
Obox2	A	T	7: 15,131,145 (GRCm39)	K84*	probably null	Het
Or4f58	T	A	2: 111,851,787 (GRCm39)	R137S	probably benign	Het
Or51a39	T	A	7: 102,363,306 (GRCm39)	I105F	possibly damaging	Het
Otogl	G	T	10: 107,737,112 (GRCm39)	Q101K	probably damaging	Het
Pcnx2	C	T	8: 126,534,766 (GRCm39)	V1288M	probably damaging	Het
Pde10a	T	A	17: 9,161,824 (GRCm39)	W220R	probably benign	Het
Recql5	T	C	11: 115,819,198 (GRCm39)	T123A	possibly damaging	Het
Rpl28	T	C	7: 4,796,602 (GRCm39)	V61A	probably benign	Het
Secisbp2l	A	T	2: 125,599,191 (GRCm39)	M494K	probably damaging	Het
Sh3bgr	G	A	16: 96,007,035 (GRCm39)	E2K	unknown	Het
Shcbp1l	C	A	1: 153,300,986 (GRCm39)	T6K	probably benign	Het
Sqle	T	C	15: 59,189,658 (GRCm39)	I100T	probably benign	Het
Tas2r106	A	T	6: 131,655,317 (GRCm39)	L178H	probably damaging	Het
Tll1	A	T	8: 64,504,391 (GRCm39)	N668K	probably damaging	Het
Tm7sf2	A	G	19: 6,116,676 (GRCm39)	S118P	probably benign	Het
Tmco5	G	T	2: 116,717,226 (GRCm39)	V169L	probably benign	Het
Trpv1	A	G	11: 73,131,499 (GRCm39)	K346E	probably damaging	Het
Ttk	G	A	9: 83,736,930 (GRCm39)	R463H	probably benign	Het
Vmn2r120	G	T	17: 57,816,406 (GRCm39)	L650I	probably benign	Het
Vmn2r58	C	T	7: 41,487,212 (GRCm39)	C561Y	probably damaging	Het
Vmn2r-ps117	A	T	17: 19,044,948 (GRCm39)	Q455L	probably benign	Het
Zfr	T	A	15: 12,140,645 (GRCm39)	S231T	unknown	Het

Other mutations in Slc22a15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00846:Slc22a15	APN	3	101,768,136 (GRCm39)	missense	probably benign	0.00
IGL01120:Slc22a15	APN	3	101,804,482 (GRCm39)	missense	probably damaging	1.00
IGL01345:Slc22a15	APN	3	101,787,492 (GRCm39)	missense	probably benign	0.00
IGL01871:Slc22a15	APN	3	101,768,110 (GRCm39)	splice site	probably benign
IGL01880:Slc22a15	APN	3	101,768,164 (GRCm39)	missense	probably benign	0.32
R0310:Slc22a15	UTSW	3	101,767,827 (GRCm39)	missense	probably benign	0.12
R1758:Slc22a15	UTSW	3	101,767,769 (GRCm39)	nonsense	probably null
R1937:Slc22a15	UTSW	3	101,787,505 (GRCm39)	critical splice acceptor site	probably null
R3804:Slc22a15	UTSW	3	101,804,590 (GRCm39)	missense	probably damaging	1.00
R4830:Slc22a15	UTSW	3	101,782,919 (GRCm39)	intron	probably benign
R5564:Slc22a15	UTSW	3	101,771,905 (GRCm39)	missense	probably benign	0.34
R5684:Slc22a15	UTSW	3	101,770,271 (GRCm39)	missense	probably damaging	1.00
R6034:Slc22a15	UTSW	3	101,770,235 (GRCm39)	missense	possibly damaging	0.80
R6034:Slc22a15	UTSW	3	101,770,235 (GRCm39)	missense	possibly damaging	0.80
R6114:Slc22a15	UTSW	3	101,768,168 (GRCm39)	nonsense	probably null
R6481:Slc22a15	UTSW	3	101,790,899 (GRCm39)	missense	possibly damaging	0.88
R6641:Slc22a15	UTSW	3	101,783,022 (GRCm39)	missense	possibly damaging	0.52
R6945:Slc22a15	UTSW	3	101,831,430 (GRCm39)	missense	probably damaging	0.99
R7354:Slc22a15	UTSW	3	101,771,897 (GRCm39)	missense	probably benign	0.09
R7431:Slc22a15	UTSW	3	101,805,256 (GRCm39)	missense	probably benign	0.13
R7758:Slc22a15	UTSW	3	101,805,251 (GRCm39)	critical splice donor site	probably null
R8058:Slc22a15	UTSW	3	101,771,926 (GRCm39)	missense	probably benign
R8129:Slc22a15	UTSW	3	101,822,658 (GRCm39)	missense	possibly damaging	0.82
R8838:Slc22a15	UTSW	3	101,790,849 (GRCm39)	missense	probably damaging	1.00
R9652:Slc22a15	UTSW	3	101,790,848 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TTAGCCGCATTTAGCCTGAG -3'
(R):5'- TCAAATGGGTTAGTAGTGCTGC -3'

Sequencing Primer
(F):5'- TTAGCCTGAGAAAAACTCTGCTGG -3'
(R):5'- CTCTCATGGAAAAGTGTTGTTCC -3'

Posted On

2019-09-13