Incidental Mutation 'IGL02000:Slc22a2'
ID183013
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc22a2
Ensembl Gene ENSMUSG00000040966
Gene Namesolute carrier family 22 (organic cation transporter), member 2
SynonymsOrct2, Oct2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02000
Quality Score
Status
Chromosome17
Chromosomal Location12584189-12628465 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 12584383 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 35 (I35F)
Ref Sequence ENSEMBL: ENSMUSP00000041186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046959]
Predicted Effect possibly damaging
Transcript: ENSMUST00000046959
AA Change: I35F

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000041186
Gene: ENSMUSG00000040966
AA Change: I35F

DomainStartEndE-ValueType
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid5a T C 1: 36,319,497 F450S probably damaging Het
Astn1 C T 1: 158,674,614 R1133C probably damaging Het
Cd101 G A 3: 101,012,082 P568L probably benign Het
Cdkl4 T C 17: 80,543,763 E170G probably damaging Het
Chit1 A G 1: 134,146,675 E240G probably benign Het
Duox2 T C 2: 122,290,709 T741A probably benign Het
Eef2 T C 10: 81,180,011 V427A probably benign Het
Ewsr1 T C 11: 5,088,077 D105G probably damaging Het
Ftsj3 C T 11: 106,250,407 R629Q probably benign Het
Gm10406 C T 14: 7,009,867 G181E probably benign Het
Ilk A G 7: 105,741,169 H185R probably benign Het
Lamc1 A T 1: 153,240,433 C1001S probably damaging Het
Mcidas T C 13: 112,997,440 S153P probably benign Het
Mtcl1 T C 17: 66,354,190 E931G probably benign Het
Myo10 C T 15: 25,808,066 R1925C probably damaging Het
Notch3 A G 17: 32,122,742 V2012A probably damaging Het
Olfr809 C A 10: 129,776,069 H67N probably benign Het
Parp6 A G 9: 59,648,892 M542V probably benign Het
Rab27a G A 9: 73,084,972 G94D probably damaging Het
Ralgapb A G 2: 158,454,114 probably benign Het
Rassf4 T C 6: 116,645,972 E26G probably benign Het
Rnf166 C T 8: 122,467,222 D221N probably damaging Het
Rptn G T 3: 93,396,428 G356V probably benign Het
Rwdd2b T A 16: 87,436,940 probably benign Het
Scfd1 T A 12: 51,414,117 S337T probably benign Het
Sel1l3 T A 5: 53,145,493 D678V probably damaging Het
Sidt1 A T 16: 44,286,369 F233I probably damaging Het
Slc12a4 T C 8: 105,945,232 D917G probably damaging Het
Smco1 A T 16: 32,273,933 T141S possibly damaging Het
Svs6 T C 2: 164,317,432 probably benign Het
Syne2 C T 12: 76,015,645 A4247V probably damaging Het
Tacc2 T A 7: 130,729,168 probably null Het
Tgm4 A T 9: 123,056,466 I358F probably damaging Het
Thnsl2 A G 6: 71,134,219 S222P probably damaging Het
Tmem25 G A 9: 44,798,271 R78* probably null Het
Ube2l6 T C 2: 84,809,162 probably benign Het
Usp10 T A 8: 119,948,741 Y63N possibly damaging Het
Vit A G 17: 78,605,486 I283V possibly damaging Het
Vmn1r214 G A 13: 23,035,100 V255I possibly damaging Het
Xpo1 A G 11: 23,296,003 R1038G probably damaging Het
Ybx1 T A 4: 119,282,312 N50I probably damaging Het
Zhx1 T C 15: 58,054,287 K188E probably damaging Het
Other mutations in Slc22a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Slc22a2 APN 17 12608418 missense possibly damaging 0.79
IGL00658:Slc22a2 APN 17 12615315 missense probably benign 0.37
IGL01073:Slc22a2 APN 17 12584349 missense probably benign 0.00
IGL01573:Slc22a2 APN 17 12605961 missense probably damaging 0.99
IGL02943:Slc22a2 APN 17 12610061 missense probably damaging 1.00
IGL03301:Slc22a2 APN 17 12606039 missense probably damaging 1.00
R0492:Slc22a2 UTSW 17 12615272 missense probably benign 0.00
R0835:Slc22a2 UTSW 17 12612431 missense probably benign 0.01
R1330:Slc22a2 UTSW 17 12586812 missense possibly damaging 0.94
R1432:Slc22a2 UTSW 17 12584308 missense possibly damaging 0.89
R1559:Slc22a2 UTSW 17 12584411 missense probably damaging 1.00
R1855:Slc22a2 UTSW 17 12586812 missense probably damaging 0.99
R1884:Slc22a2 UTSW 17 12614826 splice site probably benign
R2042:Slc22a2 UTSW 17 12599125 missense probably benign 0.01
R2197:Slc22a2 UTSW 17 12599062 missense probably damaging 1.00
R2255:Slc22a2 UTSW 17 12599175 missense probably damaging 1.00
R2271:Slc22a2 UTSW 17 12586805 missense probably benign
R4003:Slc22a2 UTSW 17 12612450 missense probably benign 0.01
R4021:Slc22a2 UTSW 17 12584489 missense probably damaging 1.00
R4093:Slc22a2 UTSW 17 12612394 missense probably damaging 1.00
R4404:Slc22a2 UTSW 17 12614764 missense probably damaging 1.00
R4419:Slc22a2 UTSW 17 12612586 nonsense probably null
R4564:Slc22a2 UTSW 17 12610056 missense probably benign 0.08
R4866:Slc22a2 UTSW 17 12584429 missense probably damaging 1.00
R4877:Slc22a2 UTSW 17 12614815 missense possibly damaging 0.53
R5224:Slc22a2 UTSW 17 12586832 missense probably damaging 0.97
R5668:Slc22a2 UTSW 17 12608409 missense probably benign
R6326:Slc22a2 UTSW 17 12612410 nonsense probably null
R7137:Slc22a2 UTSW 17 12584341 missense probably benign
R7211:Slc22a2 UTSW 17 12586883 critical splice donor site probably null
R7378:Slc22a2 UTSW 17 12612391 missense probably damaging 1.00
R7521:Slc22a2 UTSW 17 12586823 missense probably benign 0.14
R7524:Slc22a2 UTSW 17 12606057 missense possibly damaging 0.87
R7735:Slc22a2 UTSW 17 12610030 missense probably damaging 0.99
R8136:Slc22a2 UTSW 17 12606030 missense probably damaging 1.00
R8671:Slc22a2 UTSW 17 12605976 nonsense probably null
R8799:Slc22a2 UTSW 17 12612538 missense probably benign 0.14
Z1088:Slc22a2 UTSW 17 12614776 missense probably benign 0.36
Z1176:Slc22a2 UTSW 17 12584625 missense possibly damaging 0.79
Z1177:Slc22a2 UTSW 17 12606010 missense probably benign 0.00
Posted On2014-05-07