Incidental Mutation 'R4684:Slc15a2'
ID 353560
Institutional Source Beutler Lab
Gene Symbol Slc15a2
Ensembl Gene ENSMUSG00000022899
Gene Name solute carrier family 15 (H+/peptide transporter), member 2
Synonyms 8430408C16Rik, Pept2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R4684 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 36750177-36784962 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36757849 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 359 (K359N)
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 damaging
Transcript: ENSMUST00000023616
AA Change: K390N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023616
Gene: ENSMUSG00000022899
AA Change: K390N

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: ENSMUST00000100308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163471
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163964
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164770
Predicted Effect unknown
Transcript: ENSMUST00000165380
AA Change: K80I
SMART Domains Protein: ENSMUSP00000131395
Gene: ENSMUSG00000022899
AA Change: K80I

DomainStartEndE-ValueType
low complexity region 35 47 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000165531
AA Change: K359N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132663
Gene: ENSMUSG00000022899
AA Change: K359N

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: ENSMUST00000167909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167941
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172382
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310039H08Rik T C 17: 46,772,946 (GRCm38) V45A probably benign Het
4921509C19Rik A G 2: 151,471,871 (GRCm38) I629T unknown Het
4933402N03Rik T C 7: 131,138,684 (GRCm38) R268G probably damaging Het
Abca13 A T 11: 9,434,193 (GRCm38) R3882* probably null Het
Adamts3 T G 5: 89,703,007 (GRCm38) T558P probably damaging Het
Ano2 A G 6: 125,790,341 (GRCm38) N214S probably benign Het
Arhgef4 A T 1: 34,811,785 (GRCm38) probably null Het
Boc C T 16: 44,500,380 (GRCm38) A306T probably benign Het
Capn10 T C 1: 92,943,781 (GRCm38) F367S probably damaging Het
Ccdc6 T C 10: 70,189,256 (GRCm38) probably benign Het
Cobll1 G T 2: 65,099,028 (GRCm38) S688R possibly damaging Het
Cpxm2 G T 7: 132,049,038 (GRCm38) P631Q possibly damaging Het
Cyp2c68 A G 19: 39,699,335 (GRCm38) V406A possibly damaging Het
Cyp4a30b T A 4: 115,455,003 (GRCm38) Y118N probably damaging Het
Dgki A T 6: 37,299,846 (GRCm38) probably benign Het
Disp2 A G 2: 118,792,756 (GRCm38) N1323S probably damaging Het
Dock1 T A 7: 134,724,409 (GRCm38) Y42* probably null Het
Eps8l1 C A 7: 4,473,945 (GRCm38) P471Q probably damaging Het
Fam20a A C 11: 109,721,687 (GRCm38) L10R unknown Het
Fpr-rs4 T A 17: 18,022,184 (GRCm38) I151K probably damaging Het
Gga1 C A 15: 78,885,309 (GRCm38) P161T probably damaging Het
Gm8909 A T 17: 36,165,858 (GRCm38) H241Q possibly damaging Het
Gm9923 T A 10: 72,309,476 (GRCm38) Y52* probably null Het
Gucy2g A G 19: 55,206,256 (GRCm38) F910L probably damaging Het
Helz T C 11: 107,649,145 (GRCm38) V315A probably damaging Het
Hk2 T C 6: 82,739,648 (GRCm38) Y301C probably damaging Het
Htt C T 5: 34,852,765 (GRCm38) P1521S probably damaging Het
Iah1 T C 12: 21,316,433 (GRCm38) M1T probably null Het
Ik T C 18: 36,752,414 (GRCm38) S287P probably damaging Het
Itga1 T A 13: 115,049,370 (GRCm38) D32V probably damaging Het
Itpr2 A G 6: 146,373,173 (GRCm38) F837S probably damaging Het
Klk14 A G 7: 43,691,968 (GRCm38) I15V probably benign Het
Kng2 T C 16: 22,987,641 (GRCm38) I603V possibly damaging Het
Lama1 T C 17: 67,773,778 (GRCm38) I1267T possibly damaging Het
Lrp1b A C 2: 40,922,304 (GRCm38) L2430V probably benign Het
Lrrn3 T G 12: 41,454,244 (GRCm38) K25Q possibly damaging Het
Lta4h T A 10: 93,468,816 (GRCm38) N233K probably benign Het
Mapk13 T C 17: 28,770,049 (GRCm38) I53T probably damaging Het
Mdn1 T C 4: 32,666,430 (GRCm38) F123L probably damaging Het
Mettl7b G T 10: 128,960,702 (GRCm38) C79* probably null Het
Myh4 G C 11: 67,245,811 (GRCm38) D472H probably damaging Het
Nipa2 A T 7: 55,935,826 (GRCm38) N121K probably benign Het
Nostrin C T 2: 69,183,924 (GRCm38) T408M probably benign Het
Olfr347 A G 2: 36,734,674 (GRCm38) M118V probably damaging Het
Olfr725 T C 14: 50,034,830 (GRCm38) D191G probably damaging Het
Oosp2 C T 19: 11,649,653 (GRCm38) R102H probably damaging Het
Osgin2 T A 4: 16,001,946 (GRCm38) I202L probably benign Het
Pbld2 C A 10: 63,057,697 (GRCm38) R271S probably damaging Het
Pex6 C T 17: 46,712,101 (GRCm38) T201I probably benign Het
Pilra T C 5: 137,835,515 (GRCm38) I96M probably damaging Het
Pllp T A 8: 94,677,278 (GRCm38) D47V possibly damaging Het
Plxna2 A G 1: 194,762,594 (GRCm38) S765G probably benign Het
Prkca A T 11: 107,961,608 (GRCm38) Y100N probably damaging Het
Prkg1 T A 19: 31,664,179 (GRCm38) K35* probably null Het
Psmc2 A G 5: 21,803,265 (GRCm38) D389G possibly damaging Het
Rnf213 A G 11: 119,441,125 (GRCm38) T2387A probably damaging Het
Ros1 T C 10: 52,129,096 (GRCm38) N914S probably damaging Het
Ruvbl1 C A 6: 88,491,599 (GRCm38) T367K probably benign Het
Scube2 C T 7: 109,810,713 (GRCm38) R525H probably damaging Het
Sec14l4 T C 11: 4,035,200 (GRCm38) probably null Het
Secisbp2l T C 2: 125,745,942 (GRCm38) D751G probably damaging Het
Setd3 T C 12: 108,108,690 (GRCm38) D402G probably benign Het
Slc25a21 A G 12: 57,196,936 (GRCm38) S2P probably benign Het
Slfn8 A T 11: 83,017,506 (GRCm38) H70Q probably benign Het
Spef2 T C 15: 9,647,490 (GRCm38) I944V probably benign Het
Spg11 A G 2: 122,065,076 (GRCm38) F1887S probably damaging Het
Sptbn4 A T 7: 27,366,735 (GRCm38) D649E possibly damaging Het
Sptbn4 T C 7: 27,364,419 (GRCm38) E879G probably damaging Het
Stx5a C A 19: 8,743,361 (GRCm38) R121S probably damaging Het
Tbcd T C 11: 121,493,771 (GRCm38) L26P probably damaging Het
Tecpr1 T C 5: 144,207,437 (GRCm38) D649G probably benign Het
Tfam A G 10: 71,237,847 (GRCm38) S32P probably benign Het
Trmt44 C T 5: 35,558,043 (GRCm38) R642H probably benign Het
Trpm3 G A 19: 22,987,781 (GRCm38) A1547T probably benign Het
Ttll6 T C 11: 96,153,177 (GRCm38) V519A probably benign Het
Umodl1 T C 17: 30,998,114 (GRCm38) F1107L probably benign Het
Usp5 A T 6: 124,817,956 (GRCm38) V677E probably damaging Het
Utp20 A T 10: 88,807,445 (GRCm38) L605* probably null Het
Utrn T C 10: 12,745,240 (GRCm38) D229G probably damaging Het
Uty A T Y: 1,176,502 (GRCm38) L178* probably null Het
Vmn2r88 A T 14: 51,413,334 (GRCm38) D168V possibly damaging Het
Vps13b T C 15: 35,646,178 (GRCm38) V1476A probably damaging Het
Vps13b C T 15: 35,841,341 (GRCm38) H2506Y probably benign Het
Vps13b C A 15: 35,879,821 (GRCm38) T3014K probably benign Het
Vps37c T C 19: 10,712,768 (GRCm38) V198A probably benign Het
Zfc3h1 T C 10: 115,423,385 (GRCm38) Y1621H probably benign Het
Zfp251 T C 15: 76,854,407 (GRCm38) D162G possibly damaging Het
Zfp292 T C 4: 34,807,078 (GRCm38) T1994A probably benign Het
Zfp791 A G 8: 85,110,930 (GRCm38) Y102H probably benign Het
Other mutations in Slc15a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00505:Slc15a2 APN 16 36,753,775 (GRCm38) missense probably benign 0.00
IGL00703:Slc15a2 APN 16 36,757,791 (GRCm38) missense probably benign 0.00
IGL00937:Slc15a2 APN 16 36,751,880 (GRCm38) nonsense probably null
IGL01511:Slc15a2 APN 16 36,784,726 (GRCm38) missense probably damaging 0.99
IGL01739:Slc15a2 APN 16 36,756,230 (GRCm38) missense probably benign
IGL02069:Slc15a2 APN 16 36,759,251 (GRCm38) missense probably benign 0.02
IGL02076:Slc15a2 APN 16 36,762,381 (GRCm38) missense probably damaging 1.00
IGL02254:Slc15a2 APN 16 36,760,087 (GRCm38) missense possibly damaging 0.93
IGL02387:Slc15a2 APN 16 36,751,775 (GRCm38) splice site probably null
IGL02507:Slc15a2 APN 16 36,781,659 (GRCm38) missense possibly damaging 0.87
IGL02829:Slc15a2 APN 16 36,757,193 (GRCm38) missense possibly damaging 0.92
IGL03114:Slc15a2 APN 16 36,751,905 (GRCm38) missense probably damaging 1.00
IGL03227:Slc15a2 APN 16 36,756,048 (GRCm38) critical splice donor site probably null
PIT4581001:Slc15a2 UTSW 16 36,772,043 (GRCm38) missense probably benign
R0058:Slc15a2 UTSW 16 36,754,547 (GRCm38) missense probably benign 0.08
R0058:Slc15a2 UTSW 16 36,754,547 (GRCm38) missense probably benign 0.08
R0083:Slc15a2 UTSW 16 36,782,283 (GRCm38) missense probably damaging 1.00
R0099:Slc15a2 UTSW 16 36,753,036 (GRCm38) missense probably damaging 1.00
R0104:Slc15a2 UTSW 16 36,774,635 (GRCm38) missense possibly damaging 0.79
R0402:Slc15a2 UTSW 16 36,775,598 (GRCm38) missense probably benign 0.00
R0619:Slc15a2 UTSW 16 36,759,307 (GRCm38) missense probably damaging 1.00
R0963:Slc15a2 UTSW 16 36,774,573 (GRCm38) missense probably damaging 1.00
R0972:Slc15a2 UTSW 16 36,757,139 (GRCm38) missense probably benign 0.00
R1440:Slc15a2 UTSW 16 36,784,643 (GRCm38) splice site probably benign
R1471:Slc15a2 UTSW 16 36,753,791 (GRCm38) missense probably damaging 0.99
R1569:Slc15a2 UTSW 16 36,756,383 (GRCm38) missense probably benign 0.00
R1616:Slc15a2 UTSW 16 36,754,481 (GRCm38) missense probably benign
R2246:Slc15a2 UTSW 16 36,762,361 (GRCm38) missense probably damaging 1.00
R2405:Slc15a2 UTSW 16 36,751,837 (GRCm38) nonsense probably null
R3834:Slc15a2 UTSW 16 36,772,128 (GRCm38) nonsense probably null
R3835:Slc15a2 UTSW 16 36,772,128 (GRCm38) nonsense probably null
R3885:Slc15a2 UTSW 16 36,782,304 (GRCm38) missense probably damaging 1.00
R3887:Slc15a2 UTSW 16 36,782,304 (GRCm38) missense probably damaging 1.00
R3888:Slc15a2 UTSW 16 36,782,304 (GRCm38) missense probably damaging 1.00
R3889:Slc15a2 UTSW 16 36,782,304 (GRCm38) missense probably damaging 1.00
R4105:Slc15a2 UTSW 16 36,782,393 (GRCm38) intron probably benign
R4108:Slc15a2 UTSW 16 36,782,393 (GRCm38) intron probably benign
R4254:Slc15a2 UTSW 16 36,754,490 (GRCm38) missense probably benign 0.04
R4352:Slc15a2 UTSW 16 36,772,028 (GRCm38) missense probably benign 0.08
R4747:Slc15a2 UTSW 16 36,772,136 (GRCm38) missense probably damaging 0.98
R4774:Slc15a2 UTSW 16 36,781,695 (GRCm38) nonsense probably null
R5151:Slc15a2 UTSW 16 36,752,297 (GRCm38) missense probably damaging 1.00
R5503:Slc15a2 UTSW 16 36,762,385 (GRCm38) missense probably damaging 1.00
R5649:Slc15a2 UTSW 16 36,772,110 (GRCm38) nonsense probably null
R6003:Slc15a2 UTSW 16 36,754,548 (GRCm38) missense probably benign 0.00
R6261:Slc15a2 UTSW 16 36,761,611 (GRCm38) missense probably benign 0.25
R6329:Slc15a2 UTSW 16 36,751,782 (GRCm38) missense possibly damaging 0.94
R6409:Slc15a2 UTSW 16 36,761,870 (GRCm38) missense probably benign 0.00
R6523:Slc15a2 UTSW 16 36,752,321 (GRCm38) missense probably benign 0.17
R7125:Slc15a2 UTSW 16 36,782,298 (GRCm38) missense probably damaging 1.00
R7208:Slc15a2 UTSW 16 36,756,281 (GRCm38) missense probably benign 0.02
R7234:Slc15a2 UTSW 16 36,757,811 (GRCm38) missense probably benign 0.05
R7374:Slc15a2 UTSW 16 36,751,845 (GRCm38) missense probably benign 0.01
R7545:Slc15a2 UTSW 16 36,775,602 (GRCm38) missense probably damaging 1.00
R7559:Slc15a2 UTSW 16 36,751,897 (GRCm38) missense probably benign
R7611:Slc15a2 UTSW 16 36,756,311 (GRCm38) missense probably benign 0.18
R7787:Slc15a2 UTSW 16 36,751,866 (GRCm38) missense probably benign 0.02
R7825:Slc15a2 UTSW 16 36,753,034 (GRCm38) missense possibly damaging 0.94
R8324:Slc15a2 UTSW 16 36,759,307 (GRCm38) missense probably damaging 1.00
R9035:Slc15a2 UTSW 16 36,782,357 (GRCm38) missense possibly damaging 0.82
R9037:Slc15a2 UTSW 16 36,762,363 (GRCm38) missense probably benign 0.11
R9212:Slc15a2 UTSW 16 36,781,691 (GRCm38) nonsense probably null
R9273:Slc15a2 UTSW 16 36,753,728 (GRCm38) missense probably benign 0.01
R9363:Slc15a2 UTSW 16 36,752,310 (GRCm38) missense possibly damaging 0.91
R9368:Slc15a2 UTSW 16 36,753,718 (GRCm38) missense probably benign 0.00
R9488:Slc15a2 UTSW 16 36,759,289 (GRCm38) 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 36,753,789 (GRCm38) 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 36,759,316 (GRCm38) critical splice acceptor site probably null
Z1177:Slc15a2 UTSW 16 36,784,687 (GRCm38) frame shift probably null
Z1177:Slc15a2 UTSW 16 36,772,445 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTCCCATGAAATGACACTGGTG -3'
(R):5'- AGTCCTTCTTGATGCTCAGACC -3'

Sequencing Primer
(F):5'- CATGAAATGACACTGGTGAGTCCC -3'
(R):5'- TTCTTGATGCTCAGACCAACAAAG -3'
Posted On 2015-10-21