Incidental Mutation 'R1616:Slc15a2'
ID 174306
Institutional Source Beutler Lab
Gene Symbol Slc15a2
Ensembl Gene ENSMUSG00000022899
Gene Name solute carrier family 15 (H+/peptide transporter), member 2
Synonyms Pept2, 8430408C16Rik
MMRRC Submission 039653-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R1616 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 36570539-36605324 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36574843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 522 (D522G)
Ref Sequence ENSEMBL: ENSMUSP00000132663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023616] [ENSMUST00000165380] [ENSMUST00000165531]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000023616
AA Change: D553G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023616
Gene: ENSMUSG00000022899
AA Change: D553G

DomainStartEndE-ValueType
low complexity region 35 47 N/A INTRINSIC
Pfam:PTR2 122 500 1.7e-122 PFAM
Pfam:PTR2 593 686 2.5e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163471
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163964
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164770
Predicted Effect probably benign
Transcript: ENSMUST00000165380
SMART Domains Protein: ENSMUSP00000131395
Gene: ENSMUSG00000022899

DomainStartEndE-ValueType
low complexity region 35 47 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165531
AA Change: D522G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132663
Gene: ENSMUSG00000022899
AA Change: D522G

DomainStartEndE-ValueType
low complexity region 35 47 N/A INTRINSIC
Pfam:PTR2 99 469 2.4e-105 PFAM
PDB:2XUT|C 583 642 3e-10 PDB
transmembrane domain 655 677 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172382
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167941
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.3%
  • 20x: 85.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mammalian kidney expresses a proton-coupled peptide transporter that is responsible for the absorption of small peptides, as well as beta-lactam antibiotics and other peptide-like drugs, from the tubular filtrate. This transporter, SLC15A2, belongs to the same gene family as SLC15A1 (MIM 600544), the proton-coupled peptide transporter found in the small intestine (Liu et al, 1995 [PubMed 7756356]).[supplied by OMIM, Feb 2011]
PHENOTYPE: Homozygous mutant mice have impairments of dipeptide transportion, however, show no gross defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933406P04Rik T C 10: 20,187,087 (GRCm39) probably benign Het
A1cf A G 19: 31,912,175 (GRCm39) E430G probably damaging Het
Aacs T A 5: 125,561,590 (GRCm39) probably null Het
Acot12 G A 13: 91,920,886 (GRCm39) V331I probably benign Het
Acp7 A G 7: 28,310,503 (GRCm39) W445R probably damaging Het
Actl11 C A 9: 107,809,135 (GRCm39) Q1153K probably benign Het
Actr8 A G 14: 29,704,601 (GRCm39) T34A possibly damaging Het
Ahnak A G 19: 8,986,351 (GRCm39) D2545G possibly damaging Het
Ap5z1 A G 5: 142,457,991 (GRCm39) Y388C probably benign Het
Apol7a C T 15: 77,273,806 (GRCm39) G219S probably damaging Het
Arid1b T A 17: 5,389,569 (GRCm39) I1705N probably damaging Het
Bod1l T C 5: 41,966,058 (GRCm39) Q2669R probably benign Het
Braf A T 6: 39,620,067 (GRCm39) S504T probably benign Het
Cbl A T 9: 44,064,197 (GRCm39) Y780N probably damaging Het
Cd86 T C 16: 36,449,338 (GRCm39) I20V probably benign Het
Cep290 T G 10: 100,404,698 (GRCm39) D2353E probably benign Het
Ckmt2 G A 13: 92,007,328 (GRCm39) R289C probably benign Het
Col3a1 T C 1: 45,367,648 (GRCm39) probably null Het
Cyp4f16 T A 17: 32,761,942 (GRCm39) Y163* probably null Het
Dimt1 T C 13: 107,089,958 (GRCm39) V227A possibly damaging Het
Dnah6 A T 6: 73,077,095 (GRCm39) M2338K probably benign Het
Dock4 T G 12: 40,719,044 (GRCm39) I274S probably damaging Het
Enthd1 T C 15: 80,336,586 (GRCm39) D616G probably damaging Het
Fignl2 T C 15: 100,951,997 (GRCm39) E95G probably damaging Het
Foxn1 A G 11: 78,249,692 (GRCm39) M611T probably benign Het
Foxs1 T C 2: 152,774,559 (GRCm39) S165G probably benign Het
Fzd3 G T 14: 65,472,956 (GRCm39) Q271K probably benign Het
Hadhb A T 5: 30,371,713 (GRCm39) I55F probably damaging Het
Hipk3 G A 2: 104,264,090 (GRCm39) Q824* probably null Het
Hps1 G A 19: 42,755,624 (GRCm39) R201W probably damaging Het
Kif21b T C 1: 136,099,423 (GRCm39) S1477P probably damaging Het
Kif26a A T 12: 112,123,680 (GRCm39) probably null Het
Krt90 T C 15: 101,469,026 (GRCm39) E172G possibly damaging Het
Lama4 T G 10: 38,951,446 (GRCm39) F1064V probably damaging Het
Leng9 A G 7: 4,151,902 (GRCm39) V258A probably benign Het
Lgi2 A C 5: 52,703,980 (GRCm39) V217G probably benign Het
Lpgat1 T C 1: 191,495,741 (GRCm39) I310T possibly damaging Het
Ltbp3 A G 19: 5,796,995 (GRCm39) Y374C probably damaging Het
Magi2 C A 5: 20,814,324 (GRCm39) T1075K probably damaging Het
Man2c1 T C 9: 57,042,793 (GRCm39) I221T probably benign Het
Mydgf A G 17: 56,486,415 (GRCm39) M72T possibly damaging Het
Myo1b T C 1: 51,815,474 (GRCm39) N624S probably damaging Het
Myo5c T A 9: 75,203,299 (GRCm39) M1465K probably damaging Het
Nek4 A T 14: 30,709,094 (GRCm39) D716V probably damaging Het
Nfxl1 T A 5: 72,686,380 (GRCm39) Q607L probably benign Het
Nlrp9c A T 7: 26,083,862 (GRCm39) D572E probably benign Het
Nop14 G T 5: 34,807,757 (GRCm39) Q402K possibly damaging Het
Npy5r C G 8: 67,134,052 (GRCm39) C247S probably damaging Het
Nrap T A 19: 56,378,255 (GRCm39) I19F probably damaging Het
Or4c102 A G 2: 88,422,352 (GRCm39) D68G probably damaging Het
Or51t4 T A 7: 102,597,721 (GRCm39) N16K probably damaging Het
Or6z3 T G 7: 6,463,744 (GRCm39) S79A probably damaging Het
Pcdh9 A T 14: 94,124,405 (GRCm39) Y588* probably null Het
Ppp1r12a A G 10: 108,096,728 (GRCm39) E183G probably damaging Het
Ppp2r2b T A 18: 42,821,375 (GRCm39) H261L probably benign Het
Ptch1 G T 13: 63,687,656 (GRCm39) T374K possibly damaging Het
Ptpn13 A T 5: 103,713,103 (GRCm39) N1742I possibly damaging Het
Rab33a C T X: 47,608,521 (GRCm39) S15L probably benign Het
Ralb T C 1: 119,405,744 (GRCm39) Y75C probably damaging Het
Rassf7 T A 7: 140,796,645 (GRCm39) V2D probably damaging Het
Rbm10 A G X: 20,512,230 (GRCm39) N397S probably benign Het
Rbm15 T C 3: 107,238,197 (GRCm39) T734A probably benign Het
Rbm8a G T 3: 96,539,046 (GRCm39) probably benign Het
Rock2 T C 12: 17,022,986 (GRCm39) I1095T probably benign Het
Rxfp3 T A 15: 11,036,389 (GRCm39) T328S probably damaging Het
Sec31a T A 5: 100,534,054 (GRCm39) K505N possibly damaging Het
Selenof A G 3: 144,302,642 (GRCm39) *122W probably null Het
Sh3pxd2b T C 11: 32,331,441 (GRCm39) M55T possibly damaging Het
Slc2a1 T C 4: 118,993,503 (GRCm39) F447L probably damaging Het
Slc45a2 T A 15: 11,022,214 (GRCm39) C319S probably null Het
Smad4 T C 18: 73,773,333 (GRCm39) D551G probably benign Het
Smarcc2 A G 10: 128,318,662 (GRCm39) Y648C probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Stab2 A T 10: 86,721,582 (GRCm39) probably null Het
Tanc1 A G 2: 59,615,731 (GRCm39) D246G probably damaging Het
Tekt3 T G 11: 62,978,024 (GRCm39) probably null Het
Them5 G A 3: 94,253,567 (GRCm39) probably null Het
Tlr4 T A 4: 66,757,717 (GRCm39) F170Y probably damaging Het
Tmem214 T G 5: 31,028,907 (GRCm39) Y165* probably null Het
Tmem94 T C 11: 115,686,971 (GRCm39) probably null Het
Tom1l1 A G 11: 90,547,177 (GRCm39) L301S possibly damaging Het
Trpm3 A G 19: 22,960,076 (GRCm39) E1237G probably damaging Het
Ube2d1 C A 10: 71,092,523 (GRCm39) C107F probably damaging Het
Ugt3a1 C T 15: 9,306,330 (GRCm39) R160* probably null Het
Vcan G A 13: 89,853,782 (GRCm39) P393S probably damaging Het
Virma T C 4: 11,544,954 (GRCm39) F1638L probably damaging Het
Vmn1r31 G A 6: 58,449,043 (GRCm39) T274I probably damaging Het
Xylt2 C T 11: 94,559,035 (GRCm39) S445N probably damaging Het
Zfp457 A G 13: 67,444,375 (GRCm39) F43L possibly damaging Het
Zfp879 T A 11: 50,723,473 (GRCm39) M455L probably benign Het
Other mutations in Slc15a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00505:Slc15a2 APN 16 36,574,137 (GRCm39) missense probably benign 0.00
IGL00703:Slc15a2 APN 16 36,578,153 (GRCm39) missense probably benign 0.00
IGL00937:Slc15a2 APN 16 36,572,242 (GRCm39) nonsense probably null
IGL01511:Slc15a2 APN 16 36,605,088 (GRCm39) missense probably damaging 0.99
IGL01739:Slc15a2 APN 16 36,576,592 (GRCm39) missense probably benign
IGL02069:Slc15a2 APN 16 36,579,613 (GRCm39) missense probably benign 0.02
IGL02076:Slc15a2 APN 16 36,582,743 (GRCm39) missense probably damaging 1.00
IGL02254:Slc15a2 APN 16 36,580,449 (GRCm39) missense possibly damaging 0.93
IGL02387:Slc15a2 APN 16 36,572,137 (GRCm39) splice site probably null
IGL02507:Slc15a2 APN 16 36,602,021 (GRCm39) missense possibly damaging 0.87
IGL02829:Slc15a2 APN 16 36,577,555 (GRCm39) missense possibly damaging 0.92
IGL03114:Slc15a2 APN 16 36,572,267 (GRCm39) missense probably damaging 1.00
IGL03227:Slc15a2 APN 16 36,576,410 (GRCm39) critical splice donor site probably null
PIT4581001:Slc15a2 UTSW 16 36,592,405 (GRCm39) missense probably benign
R0058:Slc15a2 UTSW 16 36,574,909 (GRCm39) missense probably benign 0.08
R0058:Slc15a2 UTSW 16 36,574,909 (GRCm39) missense probably benign 0.08
R0083:Slc15a2 UTSW 16 36,602,645 (GRCm39) missense probably damaging 1.00
R0099:Slc15a2 UTSW 16 36,573,398 (GRCm39) missense probably damaging 1.00
R0104:Slc15a2 UTSW 16 36,594,997 (GRCm39) missense possibly damaging 0.79
R0402:Slc15a2 UTSW 16 36,595,960 (GRCm39) missense probably benign 0.00
R0619:Slc15a2 UTSW 16 36,579,669 (GRCm39) missense probably damaging 1.00
R0963:Slc15a2 UTSW 16 36,594,935 (GRCm39) missense probably damaging 1.00
R0972:Slc15a2 UTSW 16 36,577,501 (GRCm39) missense probably benign 0.00
R1440:Slc15a2 UTSW 16 36,605,005 (GRCm39) splice site probably benign
R1471:Slc15a2 UTSW 16 36,574,153 (GRCm39) missense probably damaging 0.99
R1569:Slc15a2 UTSW 16 36,576,745 (GRCm39) missense probably benign 0.00
R2246:Slc15a2 UTSW 16 36,582,723 (GRCm39) missense probably damaging 1.00
R2405:Slc15a2 UTSW 16 36,572,199 (GRCm39) nonsense probably null
R3834:Slc15a2 UTSW 16 36,592,490 (GRCm39) nonsense probably null
R3835:Slc15a2 UTSW 16 36,592,490 (GRCm39) nonsense probably null
R3885:Slc15a2 UTSW 16 36,602,666 (GRCm39) missense probably damaging 1.00
R3887:Slc15a2 UTSW 16 36,602,666 (GRCm39) missense probably damaging 1.00
R3888:Slc15a2 UTSW 16 36,602,666 (GRCm39) missense probably damaging 1.00
R3889:Slc15a2 UTSW 16 36,602,666 (GRCm39) missense probably damaging 1.00
R4105:Slc15a2 UTSW 16 36,602,755 (GRCm39) intron probably benign
R4108:Slc15a2 UTSW 16 36,602,755 (GRCm39) intron probably benign
R4254:Slc15a2 UTSW 16 36,574,852 (GRCm39) missense probably benign 0.04
R4352:Slc15a2 UTSW 16 36,592,390 (GRCm39) missense probably benign 0.08
R4684:Slc15a2 UTSW 16 36,578,211 (GRCm39) missense probably damaging 1.00
R4747:Slc15a2 UTSW 16 36,592,498 (GRCm39) missense probably damaging 0.98
R4774:Slc15a2 UTSW 16 36,602,057 (GRCm39) nonsense probably null
R5151:Slc15a2 UTSW 16 36,572,659 (GRCm39) missense probably damaging 1.00
R5503:Slc15a2 UTSW 16 36,582,747 (GRCm39) missense probably damaging 1.00
R5649:Slc15a2 UTSW 16 36,592,472 (GRCm39) nonsense probably null
R6003:Slc15a2 UTSW 16 36,574,910 (GRCm39) missense probably benign 0.00
R6261:Slc15a2 UTSW 16 36,581,973 (GRCm39) missense probably benign 0.25
R6329:Slc15a2 UTSW 16 36,572,144 (GRCm39) missense possibly damaging 0.94
R6409:Slc15a2 UTSW 16 36,582,232 (GRCm39) missense probably benign 0.00
R6523:Slc15a2 UTSW 16 36,572,683 (GRCm39) missense probably benign 0.17
R7125:Slc15a2 UTSW 16 36,602,660 (GRCm39) missense probably damaging 1.00
R7208:Slc15a2 UTSW 16 36,576,643 (GRCm39) missense probably benign 0.02
R7234:Slc15a2 UTSW 16 36,578,173 (GRCm39) missense probably benign 0.05
R7374:Slc15a2 UTSW 16 36,572,207 (GRCm39) missense probably benign 0.01
R7545:Slc15a2 UTSW 16 36,595,964 (GRCm39) missense probably damaging 1.00
R7559:Slc15a2 UTSW 16 36,572,259 (GRCm39) missense probably benign
R7611:Slc15a2 UTSW 16 36,576,673 (GRCm39) missense probably benign 0.18
R7787:Slc15a2 UTSW 16 36,572,228 (GRCm39) missense probably benign 0.02
R7825:Slc15a2 UTSW 16 36,573,396 (GRCm39) missense possibly damaging 0.94
R8324:Slc15a2 UTSW 16 36,579,669 (GRCm39) missense probably damaging 1.00
R9035:Slc15a2 UTSW 16 36,602,719 (GRCm39) missense possibly damaging 0.82
R9037:Slc15a2 UTSW 16 36,582,725 (GRCm39) missense probably benign 0.11
R9212:Slc15a2 UTSW 16 36,602,053 (GRCm39) nonsense probably null
R9273:Slc15a2 UTSW 16 36,574,090 (GRCm39) missense probably benign 0.01
R9363:Slc15a2 UTSW 16 36,572,672 (GRCm39) missense possibly damaging 0.91
R9368:Slc15a2 UTSW 16 36,574,080 (GRCm39) missense probably benign 0.00
R9488:Slc15a2 UTSW 16 36,579,651 (GRCm39) missense probably benign 0.02
T0722:Slc15a2 UTSW 16 36,772,445 (GRCm38) missense probably benign
V8831:Slc15a2 UTSW 16 36,772,445 (GRCm38) missense probably benign
X0066:Slc15a2 UTSW 16 36,574,151 (GRCm39) nonsense probably null
Z1088:Slc15a2 UTSW 16 36,772,445 (GRCm38) missense probably benign
Z1176:Slc15a2 UTSW 16 36,772,445 (GRCm38) missense probably benign
Z1176:Slc15a2 UTSW 16 36,579,678 (GRCm39) critical splice acceptor site probably null
Z1177:Slc15a2 UTSW 16 36,605,049 (GRCm39) frame shift probably null
Z1177:Slc15a2 UTSW 16 36,772,445 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- CGTCACAGAGGTGGGCTGTATTAAC -3'
(R):5'- TGCCTGGCGATTTTACACACTTGG -3'

Sequencing Primer
(F):5'- GTCTCAGCTACCAGTGTAGAAATCAG -3'
(R):5'- GGCGATTTTACACACTTGGAATATAG -3'
Posted On 2014-04-24