Mutagenetix > Incidental Mutation

Incidental Mutation 'R9511:Slc22a2'

718201

Institutional Source

Beutler Lab

Gene Symbol

Slc22a2

Ensembl Gene

ENSMUSG00000040966

Gene Name

solute carrier family 22 (organic cation transporter), member 2

Synonyms

Oct2, Orct2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9511 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12803076-12847376 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12828916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 341 (T341A)

Ref Sequence

ENSEMBL: ENSMUSP00000041186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046959]

AlphaFold

O70577

Predicted Effect

probably damaging
Transcript: ENSMUST00000046959
AA Change: T341A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000041186
Gene: ENSMUSG00000040966
AA Change: T341A

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:Sugar_tr	80	528	7.6e-37	PFAM
Pfam:MFS_1	134	398	3.5e-21	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (69/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. It is found primarily in the kidney, where it may mediate the first step in cation reabsorption. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knockout allele are viable and fertile and display no obvious phenotypic abnormalities. No significant defects in the renal secretion of a model organic cation are observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,445,848 (GRCm39)		probably benign	Het
Abca13	T	A	11: 9,278,130 (GRCm39)	S3103R	probably benign	Het
Alg9	A	C	9: 50,717,525 (GRCm39)	Y436S	probably damaging	Het
Ankar	G	A	1: 72,719,161 (GRCm39)	R563C	probably benign	Het
Ankrd34a	C	A	3: 96,505,401 (GRCm39)	R202S	probably benign	Het
Art4	T	A	6: 136,831,613 (GRCm39)	N176I	possibly damaging	Het
Bivm	A	G	1: 44,182,250 (GRCm39)	E486G	possibly damaging	Het
Ccdc168	T	G	1: 44,098,854 (GRCm39)	D748A	probably benign	Het
Ccdc3	C	A	2: 5,143,090 (GRCm39)	Q116K	probably damaging	Het
Cdc42bpb	G	A	12: 111,261,372 (GRCm39)	P1656S	probably benign	Het
Cdh6	T	C	15: 13,034,677 (GRCm39)	D661G	probably damaging	Het
Chek1	T	C	9: 36,624,747 (GRCm39)	N368S	probably benign	Het
Dnah11	A	T	12: 117,878,352 (GRCm39)	F3924L	probably damaging	Het
Dusp7	T	C	9: 106,248,125 (GRCm39)	I251T	probably damaging	Het
Dysf	T	A	6: 84,090,650 (GRCm39)	W988R	probably damaging	Het
Dzip1l	T	C	9: 99,519,710 (GRCm39)	V79A	possibly damaging	Het
Ebf1	A	G	11: 44,815,393 (GRCm39)	I344V	probably benign	Het
Ern2	T	C	7: 121,776,823 (GRCm39)	E336G	probably benign	Het
Fat4	T	C	3: 39,034,802 (GRCm39)	L2818P	probably damaging	Het
Gjb3	T	C	4: 127,220,131 (GRCm39)	S134G	probably damaging	Het
Gm10647	T	C	9: 66,705,756 (GRCm39)	F108L	unknown	Het
Gm19410	A	T	8: 36,257,848 (GRCm39)	D762V	probably damaging	Het
Gper1	A	G	5: 139,412,138 (GRCm39)	K161R	probably benign	Het
Grin1	A	G	2: 25,187,426 (GRCm39)	M628T	probably damaging	Het
Gsdmc	A	T	15: 63,649,897 (GRCm39)	D331E	probably benign	Het
Haus3	C	A	5: 34,325,571 (GRCm39)	W29C	probably damaging	Het
Il10ra	T	C	9: 45,167,690 (GRCm39)	E289G	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcnma1	T	C	14: 23,361,793 (GRCm39)	T1133A	possibly damaging	Het
Ksr1	G	A	11: 78,924,094 (GRCm39)	T458M	possibly damaging	Het
Mc5r	T	A	18: 68,472,565 (GRCm39)	M308K	possibly damaging	Het
Mis18a	T	C	16: 90,518,525 (GRCm39)	S146G	possibly damaging	Het
Mrpl50	G	A	4: 49,514,501 (GRCm39)	R57*	probably null	Het
Mtfmt	C	T	9: 65,343,147 (GRCm39)	R18C	probably benign	Het
Nanos1	T	A	19: 60,745,413 (GRCm39)	I237N	probably damaging	Het
Ncor1	TGC	TGCGGC	11: 62,324,449 (GRCm39)		probably benign	Het
Ndst3	T	A	3: 123,400,555 (GRCm39)	E450D	probably damaging	Het
Nek10	C	A	14: 14,828,511 (GRCm38)	T111K	probably benign	Het
Nipal2	T	C	15: 34,584,833 (GRCm39)	Y245C	probably damaging	Het
Npat	T	A	9: 53,473,406 (GRCm39)	D399E	probably benign	Het
Opa1	A	G	16: 29,429,738 (GRCm39)	S378G	probably damaging	Het
Or5b102	T	C	19: 13,041,119 (GRCm39)	S115P	probably damaging	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Pex16	A	T	2: 92,209,559 (GRCm39)		probably null	Het
Plec	A	T	15: 76,058,897 (GRCm39)	I3680N	probably damaging	Het
Plin3	A	T	17: 56,591,225 (GRCm39)	V185E	probably damaging	Het
Prex1	T	A	2: 166,413,481 (GRCm39)	D1512V	probably damaging	Het
Ptpn22	T	A	3: 103,792,913 (GRCm39)	S355T	probably benign	Het
Ranbp3l	A	G	15: 9,041,991 (GRCm39)		probably benign	Het
Scn5a	A	G	9: 119,351,611 (GRCm39)	I790T	probably benign	Het
Sema6d	T	C	2: 124,499,943 (GRCm39)	F340L	probably damaging	Het
Slc6a6	T	C	6: 91,721,921 (GRCm39)	Y374H	probably damaging	Het
Slitrk3	T	G	3: 72,958,272 (GRCm39)	S167R	possibly damaging	Het
Smchd1	G	A	17: 71,750,899 (GRCm39)	H340Y	possibly damaging	Het
Sorcs1	C	T	19: 50,666,521 (GRCm39)	R129Q	probably benign	Het
Sox9	A	G	11: 112,676,001 (GRCm39)	T397A	possibly damaging	Het
Tnpo1	C	A	13: 99,003,621 (GRCm39)	R245L	possibly damaging	Het
Traip	T	A	9: 107,838,785 (GRCm39)	M183K	probably damaging	Het
Trpc6	A	T	9: 8,680,419 (GRCm39)	E882D	probably benign	Het
Uba6	C	A	5: 86,288,219 (GRCm39)	G491V	probably damaging	Het
Uqcrfs1	A	T	13: 30,729,037 (GRCm39)	V65E	probably benign	Het
Urgcp	T	C	11: 5,668,128 (GRCm39)	D113G	probably damaging	Het
Wdr76	C	T	2: 121,372,976 (GRCm39)	T503M	probably damaging	Het
Zfp27	T	C	7: 29,593,641 (GRCm39)	T775A	possibly damaging	Het
Zfp518b	A	T	5: 38,829,395 (GRCm39)	V870E	possibly damaging	Het
Zfp932	T	A	5: 110,155,177 (GRCm39)	H63Q	possibly damaging	Het
Zkscan6	C	A	11: 65,712,817 (GRCm39)	T250N	probably damaging	Het
Zmat2	A	T	18: 36,930,958 (GRCm39)	K161N	possibly damaging	Het
Zyg11a	A	G	4: 108,062,420 (GRCm39)	L127P	probably damaging	Het

Other mutations in Slc22a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Slc22a2	APN	17	12,827,305 (GRCm39)	missense	possibly damaging	0.79
IGL00658:Slc22a2	APN	17	12,834,202 (GRCm39)	missense	probably benign	0.37
IGL01073:Slc22a2	APN	17	12,803,236 (GRCm39)	missense	probably benign	0.00
IGL01573:Slc22a2	APN	17	12,824,848 (GRCm39)	missense	probably damaging	0.99
IGL02000:Slc22a2	APN	17	12,803,270 (GRCm39)	missense	possibly damaging	0.77
IGL02943:Slc22a2	APN	17	12,828,948 (GRCm39)	missense	probably damaging	1.00
IGL03301:Slc22a2	APN	17	12,824,926 (GRCm39)	missense	probably damaging	1.00
R0492:Slc22a2	UTSW	17	12,834,159 (GRCm39)	missense	probably benign	0.00
R0835:Slc22a2	UTSW	17	12,831,318 (GRCm39)	missense	probably benign	0.01
R1330:Slc22a2	UTSW	17	12,805,699 (GRCm39)	missense	possibly damaging	0.94
R1432:Slc22a2	UTSW	17	12,803,195 (GRCm39)	missense	possibly damaging	0.89
R1559:Slc22a2	UTSW	17	12,803,298 (GRCm39)	missense	probably damaging	1.00
R1855:Slc22a2	UTSW	17	12,805,699 (GRCm39)	missense	probably damaging	0.99
R1884:Slc22a2	UTSW	17	12,833,713 (GRCm39)	splice site	probably benign
R2042:Slc22a2	UTSW	17	12,818,012 (GRCm39)	missense	probably benign	0.01
R2197:Slc22a2	UTSW	17	12,817,949 (GRCm39)	missense	probably damaging	1.00
R2255:Slc22a2	UTSW	17	12,818,062 (GRCm39)	missense	probably damaging	1.00
R2271:Slc22a2	UTSW	17	12,805,692 (GRCm39)	missense	probably benign
R4003:Slc22a2	UTSW	17	12,831,337 (GRCm39)	missense	probably benign	0.01
R4021:Slc22a2	UTSW	17	12,803,376 (GRCm39)	missense	probably damaging	1.00
R4093:Slc22a2	UTSW	17	12,831,281 (GRCm39)	missense	probably damaging	1.00
R4404:Slc22a2	UTSW	17	12,833,651 (GRCm39)	missense	probably damaging	1.00
R4419:Slc22a2	UTSW	17	12,831,473 (GRCm39)	nonsense	probably null
R4564:Slc22a2	UTSW	17	12,828,943 (GRCm39)	missense	probably benign	0.08
R4866:Slc22a2	UTSW	17	12,803,316 (GRCm39)	missense	probably damaging	1.00
R4877:Slc22a2	UTSW	17	12,833,702 (GRCm39)	missense	possibly damaging	0.53
R5224:Slc22a2	UTSW	17	12,805,719 (GRCm39)	missense	probably damaging	0.97
R5668:Slc22a2	UTSW	17	12,827,296 (GRCm39)	missense	probably benign
R6326:Slc22a2	UTSW	17	12,831,297 (GRCm39)	nonsense	probably null
R7137:Slc22a2	UTSW	17	12,803,228 (GRCm39)	missense	probably benign
R7211:Slc22a2	UTSW	17	12,805,770 (GRCm39)	critical splice donor site	probably null
R7378:Slc22a2	UTSW	17	12,831,278 (GRCm39)	missense	probably damaging	1.00
R7521:Slc22a2	UTSW	17	12,805,710 (GRCm39)	missense	probably benign	0.14
R7524:Slc22a2	UTSW	17	12,824,944 (GRCm39)	missense	possibly damaging	0.87
R7735:Slc22a2	UTSW	17	12,828,917 (GRCm39)	missense	probably damaging	0.99
R8136:Slc22a2	UTSW	17	12,824,917 (GRCm39)	missense	probably damaging	1.00
R8671:Slc22a2	UTSW	17	12,824,863 (GRCm39)	nonsense	probably null
R8799:Slc22a2	UTSW	17	12,831,425 (GRCm39)	missense	probably benign	0.14
R8874:Slc22a2	UTSW	17	12,828,866 (GRCm39)	missense	probably benign	0.37
R9046:Slc22a2	UTSW	17	12,834,234 (GRCm39)	missense	probably null	0.15
R9220:Slc22a2	UTSW	17	12,838,757 (GRCm39)	missense	probably benign	0.03
R9367:Slc22a2	UTSW	17	12,824,837 (GRCm39)	missense	probably benign	0.19
R9410:Slc22a2	UTSW	17	12,805,732 (GRCm39)	missense	probably damaging	0.99
R9580:Slc22a2	UTSW	17	12,803,177 (GRCm39)	missense	probably benign	0.00
Z1088:Slc22a2	UTSW	17	12,833,663 (GRCm39)	missense	probably benign	0.36
Z1176:Slc22a2	UTSW	17	12,803,512 (GRCm39)	missense	possibly damaging	0.79
Z1177:Slc22a2	UTSW	17	12,824,897 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGCCCTCTTTTGTACAATGGAG -3'
(R):5'- GCGTCAACATCCTCTGGTAATG -3'

Sequencing Primer
(F):5'- CTCTTTTGTACAATGGAGTGAAAAAC -3'
(R):5'- AACATCCTCTGGTAATGGTATTTTGG -3'

Posted On

2022-07-18