Incidental Mutation 'R1855:Slc22a2'
ID 206059
Institutional Source Beutler Lab
Gene Symbol Slc22a2
Ensembl Gene ENSMUSG00000040966
Gene Name solute carrier family 22 (organic cation transporter), member 2
Synonyms Oct2, Orct2
MMRRC Submission 039879-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1855 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 12803076-12847376 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12805699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 150 (D150G)
Ref Sequence ENSEMBL: ENSMUSP00000041186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046959]
AlphaFold O70577
Predicted Effect probably damaging
Transcript: ENSMUST00000046959
AA Change: D150G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000041186
Gene: ENSMUSG00000040966
AA Change: D150G

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
Meta Mutation Damage Score 0.4970 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency 97% (72/74)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T A 1: 11,818,195 (GRCm39) L285Q probably damaging Het
Acaca T C 11: 84,262,380 (GRCm39) L1994P probably damaging Het
Adamts9 A G 6: 92,878,350 (GRCm39) probably benign Het
Aff3 T C 1: 38,249,385 (GRCm39) E574G probably benign Het
Ankrd1 T C 19: 36,096,635 (GRCm39) K64R probably damaging Het
Arhgap23 T C 11: 97,339,523 (GRCm39) I163T probably damaging Het
Ascc3 A T 10: 50,494,018 (GRCm39) Q151L probably benign Het
Atad2 G A 15: 57,960,685 (GRCm39) P971L possibly damaging Het
C1s1 A C 6: 124,511,315 (GRCm39) probably null Het
Ccdc150 T C 1: 54,407,069 (GRCm39) probably benign Het
Cdhr3 A T 12: 33,110,351 (GRCm39) I311N probably damaging Het
Chad T A 11: 94,456,303 (GRCm39) L127H probably damaging Het
Clasp1 G A 1: 118,436,624 (GRCm39) A303T probably damaging Het
Clptm1 A G 7: 19,372,134 (GRCm39) V234A probably benign Het
Cnih3 C A 1: 181,282,186 (GRCm39) S140* probably null Het
Col24a1 G A 3: 145,164,895 (GRCm39) G1033D probably damaging Het
Csnk1a1 T A 18: 61,708,498 (GRCm39) probably null Het
Cttnbp2 T A 6: 18,378,412 (GRCm39) I1475L probably benign Het
Dnah5 T C 15: 28,411,815 (GRCm39) V3728A possibly damaging Het
Dock9 C A 14: 121,877,571 (GRCm39) V391F probably damaging Het
Ehmt2 A T 17: 35,129,752 (GRCm39) I949F probably damaging Het
Eif4g1 C A 16: 20,505,911 (GRCm39) T1025K possibly damaging Het
Enpp2 C T 15: 54,709,219 (GRCm39) E803K probably damaging Het
Esrrg A T 1: 187,943,295 (GRCm39) M423L probably damaging Het
Etnppl A T 3: 130,414,371 (GRCm39) I89F probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbln7 A G 2: 128,735,755 (GRCm39) T248A possibly damaging Het
Galnt9 C T 5: 110,763,390 (GRCm39) T465M probably damaging Het
Grcc10 A G 6: 124,717,541 (GRCm39) V57A probably benign Het
Herc1 T A 9: 66,298,708 (GRCm39) M614K possibly damaging Het
Itch C T 2: 155,014,374 (GRCm39) probably benign Het
Kdm6b C A 11: 69,298,112 (GRCm39) A167S probably damaging Het
Kidins220 C T 12: 25,106,590 (GRCm39) R1348C probably damaging Het
Kif17 T C 4: 138,015,582 (GRCm39) L577P probably benign Het
Krt25 A T 11: 99,209,141 (GRCm39) L258Q probably damaging Het
Marchf10 T C 11: 105,281,218 (GRCm39) T356A probably benign Het
Mical2 G A 7: 111,944,489 (GRCm39) A940T probably benign Het
Mrpl4 A G 9: 20,914,667 (GRCm39) E81G possibly damaging Het
Mtcl1 A G 17: 66,686,509 (GRCm39) V447A probably benign Het
Mtor C A 4: 148,637,546 (GRCm39) N2502K probably benign Het
Notch4 G A 17: 34,799,936 (GRCm39) D966N probably benign Het
Oip5 C A 2: 119,442,271 (GRCm39) K214N probably benign Het
Or8a1b A T 9: 37,623,266 (GRCm39) F103Y possibly damaging Het
Pabir2 T A X: 52,342,933 (GRCm39) Q201H probably benign Het
Pak5 A T 2: 135,929,429 (GRCm39) S585T probably benign Het
Pard3 T A 8: 128,174,293 (GRCm39) probably null Het
Pcnx2 A T 8: 126,534,735 (GRCm39) probably benign Het
Pcsk5 T C 19: 17,492,556 (GRCm39) Y939C possibly damaging Het
Pde1a A G 2: 79,728,408 (GRCm39) probably null Het
Pde9a C T 17: 31,674,094 (GRCm39) P60S probably damaging Het
Pikfyve C A 1: 65,297,957 (GRCm39) T1562K probably benign Het
Plekhg6 A T 6: 125,352,802 (GRCm39) M115K probably damaging Het
Pogz C T 3: 94,786,160 (GRCm39) T863I probably benign Het
Ppp1r3a A T 6: 14,754,993 (GRCm39) W85R probably damaging Het
Rnf123 C A 9: 107,938,990 (GRCm39) R826L probably damaging Het
Slc1a6 T A 10: 78,648,758 (GRCm39) V493E probably damaging Het
Snap47 C T 11: 59,319,159 (GRCm39) probably benign Het
Spata22 A G 11: 73,231,385 (GRCm39) D213G probably benign Het
St6galnac2 T A 11: 116,581,141 (GRCm39) R60S probably benign Het
Stk32c A G 7: 138,701,363 (GRCm39) F263S probably damaging Het
Supt6 T C 11: 78,123,366 (GRCm39) I104V possibly damaging Het
Tex2 T C 11: 106,437,702 (GRCm39) E158G possibly damaging Het
Tiam2 C T 17: 3,465,410 (GRCm39) R380C probably damaging Het
Trim25 C T 11: 88,906,407 (GRCm39) T410I probably benign Het
Usp18 T A 6: 121,239,076 (GRCm39) C212S probably benign Het
Vmn1r2 A G 4: 3,172,588 (GRCm39) Y169C probably damaging Het
Wdr33 A T 18: 32,039,909 (GRCm39) probably benign Het
Xpr1 A G 1: 155,159,002 (GRCm39) Y597H probably benign Het
Yy1 CGGG CGGGGGGGGG 12: 108,759,916 (GRCm39) probably benign Het
Zfp54 T A 17: 21,654,404 (GRCm39) Y299* probably null Het
Zfp566 T G 7: 29,777,927 (GRCm39) S85R probably benign Het
Other mutations in Slc22a2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- CAGCATCACCTGAACCTCTG -3'
(R):5'- AGCAACCACTTTTCAGGCG -3'

Sequencing Primer
(F):5'- ACCTGAACCTCTGGGGCTC -3'
(R):5'- ACCACTTTTCAGGCGGGTGG -3'
Posted On 2014-06-23