Incidental Mutation 'IGL02076:Slc15a2'
ID 185976
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc15a2
Ensembl Gene ENSMUSG00000022899
Gene Name solute carrier family 15 (H+/peptide transporter), member 2
Synonyms Pept2, 8430408C16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # IGL02076
Quality Score
Status
Chromosome 16
Chromosomal Location 36570539-36605324 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 36582743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Cysteine at position 215 (F215C)
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: F246C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023616
Gene: ENSMUSG00000022899
AA Change: F246C

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: 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 damaging
Transcript: ENSMUST00000165531
AA Change: F215C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132663
Gene: ENSMUSG00000022899
AA Change: F215C

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
Coding Region Coverage
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T C 5: 8,186,900 (GRCm39) Y407C probably damaging Het
Capn5 T A 7: 97,780,950 (GRCm39) K276* probably null Het
Cct4 T C 11: 22,952,394 (GRCm39) V495A probably damaging Het
Dapk3 A G 10: 81,026,131 (GRCm39) K141E probably damaging Het
Dnah2 T C 11: 69,313,385 (GRCm39) N4264S probably damaging Het
Dok1 A G 6: 83,009,812 (GRCm39) L99P probably damaging Het
Ebf3 A G 7: 136,833,030 (GRCm39) V215A possibly damaging Het
Efnb2 A G 8: 8,710,488 (GRCm39) S43P probably benign Het
Jhy G A 9: 40,828,674 (GRCm39) Q411* probably null Het
Krt73 G A 15: 101,708,370 (GRCm39) T229I probably damaging Het
Mroh8 A G 2: 157,113,882 (GRCm39) probably null Het
Olfm1 A G 2: 28,112,637 (GRCm39) T223A probably damaging Het
Oprk1 T A 1: 5,672,512 (GRCm39) D216E probably damaging Het
Or4b1d T A 2: 89,969,159 (GRCm39) E108V probably damaging Het
Or8g23 A G 9: 38,971,881 (GRCm39) L27P probably damaging Het
Pim1 T A 17: 29,712,777 (GRCm39) I230N probably damaging Het
Ppm1f A C 16: 16,732,035 (GRCm39) T162P possibly damaging Het
Rbbp8 T C 18: 11,838,876 (GRCm39) Y186H probably damaging Het
Sema4a C T 3: 88,357,829 (GRCm39) R225H probably damaging Het
Slc25a1 A G 16: 17,745,490 (GRCm39) C41R possibly damaging Het
Stil C A 4: 114,880,834 (GRCm39) H459Q probably benign Het
Tbc1d32 A G 10: 55,964,499 (GRCm39) I900T possibly damaging Het
Tmem33 T C 5: 67,443,446 (GRCm39) F208L probably damaging Het
Utp25 T C 1: 192,812,367 (GRCm39) H31R probably damaging Het
Vmn2r72 A G 7: 85,387,575 (GRCm39) V663A probably damaging 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
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
R1616:Slc15a2 UTSW 16 36,574,843 (GRCm39) missense probably benign
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
Posted On 2014-05-07