Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00658:Slc22a2'

14055

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00658

Quality Score

Status

Chromosome

Chromosomal Location

12803076-12847376 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12834202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 490 (D490V)

Ref Sequence

ENSEMBL: ENSMUSP00000041186 (fasta)

Gene Model

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

AlphaFold

O70577

Predicted Effect

probably benign
Transcript: ENSMUST00000046959
AA Change: D490V

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000041186
Gene: ENSMUSG00000040966
AA Change: D490V

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

Validation Efficiency

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: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	A	8: 44,021,940 (GRCm39)	M517L	probably benign	Het
Alms1	A	G	6: 85,605,943 (GRCm39)	E2531G	probably damaging	Het
Apob	A	T	12: 8,059,471 (GRCm39)	H2618L	probably benign	Het
Cfap69	A	T	5: 5,675,857 (GRCm39)	D252E	probably damaging	Het
Gm904	G	T	13: 50,798,758 (GRCm39)	A76S	possibly damaging	Het
Kansl1	G	A	11: 104,248,352 (GRCm39)	T534I	probably benign	Het
Ripor1	C	T	8: 106,344,749 (GRCm39)		probably benign	Het
Scn1a	T	C	2: 66,116,382 (GRCm39)	Q1439R	probably damaging	Het
Serpina3i	T	A	12: 104,231,429 (GRCm39)	V22D	possibly damaging	Het
Tlcd5	T	C	9: 43,024,786 (GRCm39)	I57V	probably benign	Het
Ttn	G	A	2: 76,727,616 (GRCm39)		probably benign	Het
Vegfc	T	C	8: 54,609,983 (GRCm39)		probably benign	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
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
R9511:Slc22a2	UTSW	17	12,828,916 (GRCm39)	missense	probably damaging	0.98
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

Posted On

2012-12-06