Incidental Mutation 'R3888:Slc15a2'
ID 312881
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 040800-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R3888 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 36570539-36605324 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36602666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 65 (F65S)
Ref Sequence ENSEMBL: ENSMUSP00000132663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023616] [ENSMUST00000164579] [ENSMUST00000165380] [ENSMUST00000165531] [ENSMUST00000168279]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000023616
AA Change: F65S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023616
Gene: ENSMUSG00000022899
AA Change: F65S

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 probably damaging
Transcript: ENSMUST00000164579
AA Change: F65S

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132029
Gene: ENSMUSG00000022899
AA Change: F65S

DomainStartEndE-ValueType
low complexity region 35 47 N/A INTRINSIC
Pfam:PTR2 122 244 7.3e-51 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000165380
AA Change: F65S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131395
Gene: ENSMUSG00000022899
AA Change: F65S

DomainStartEndE-ValueType
low complexity region 35 47 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000165531
AA Change: F65S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132663
Gene: ENSMUSG00000022899
AA Change: F65S

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 probably damaging
Transcript: ENSMUST00000168279
AA Change: F65S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132885
Gene: ENSMUSG00000022899
AA Change: F65S

DomainStartEndE-ValueType
low complexity region 35 47 N/A INTRINSIC
Pfam:PTR2 122 189 4.1e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169644
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171395
Meta Mutation Damage Score 0.8916 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik T A 1: 85,868,273 (GRCm39) probably null Het
Acbd6 A G 1: 155,500,643 (GRCm39) D201G probably damaging Het
Adam17 G A 12: 21,375,588 (GRCm39) R744C probably damaging Het
Adss2 A G 1: 177,595,335 (GRCm39) Y402H probably damaging Het
Ano3 T A 2: 110,715,345 (GRCm39) K31I probably damaging Het
B930094E09Rik G A 18: 31,742,742 (GRCm39) S59N unknown Het
Cmya5 T G 13: 93,230,164 (GRCm39) R1641S probably benign Het
Cps1 C A 1: 67,204,659 (GRCm39) T493K possibly damaging Het
Dmxl1 T A 18: 50,011,326 (GRCm39) M1161K probably damaging Het
Etl4 C T 2: 20,534,772 (GRCm39) Q76* probably null Het
Fn1 T C 1: 71,679,465 (GRCm39) Y511C probably damaging Het
Foxd2 T C 4: 114,765,483 (GRCm39) H179R unknown Het
Frem1 T C 4: 82,831,844 (GRCm39) R1991G probably benign Het
Gimap7 G A 6: 48,700,779 (GRCm39) E122K probably benign Het
Hps3 A G 3: 20,057,387 (GRCm39) probably null Het
Kctd2 A T 11: 115,318,345 (GRCm39) K209N probably damaging Het
Lcor T A 19: 41,546,795 (GRCm39) S126R probably damaging Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Lrp5 G A 19: 3,662,330 (GRCm39) R173C probably damaging Het
Muc5ac T C 7: 141,344,961 (GRCm39) V144A possibly damaging Het
Mypn T C 10: 63,028,289 (GRCm39) Y258C probably damaging Het
Ntf3 T C 6: 126,079,405 (GRCm39) M21V probably benign Het
Or4a71 T A 2: 89,358,076 (GRCm39) H226L possibly damaging Het
Or5b97 A T 19: 12,878,497 (GRCm39) C216S probably benign Het
Or6c1 A T 10: 129,518,088 (GRCm39) D173E probably benign Het
Or6c1 G A 10: 129,518,087 (GRCm39) H174Y possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbm45 A G 2: 76,205,768 (GRCm39) S207G probably benign Het
Robo3 G A 9: 37,333,477 (GRCm39) Q723* probably null Het
Rreb1 G T 13: 38,077,941 (GRCm39) R51L probably damaging Het
Slc12a6 T A 2: 112,097,375 (GRCm39) L70Q possibly damaging Het
Slitrk5 T A 14: 111,917,229 (GRCm39) C284* probably null Het
Smim17 G T 7: 6,432,279 (GRCm39) G74C probably damaging Het
Snapc4 G A 2: 26,255,510 (GRCm39) Q1005* probably null Het
Suv39h2 G A 2: 3,465,845 (GRCm39) T170I probably benign Het
Thrb A G 14: 18,033,551 (GRCm38) K424R probably damaging Het
Tm4sf4 C T 3: 57,345,166 (GRCm39) Q191* probably null Het
Trak1 G T 9: 121,271,863 (GRCm39) probably null Het
Ttn A G 2: 76,540,618 (GRCm39) S25796P probably damaging Het
Ugp2 T C 11: 21,303,366 (GRCm39) R80G probably benign Het
Utp15 C T 13: 98,395,674 (GRCm39) V103I probably benign Het
Wdr3 A T 3: 100,061,222 (GRCm39) S249T probably benign Het
Zeb1 T A 18: 5,748,743 (GRCm39) D86E 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
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
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
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'- TGCATTGTTCCTAAGGGCCTT -3'
(R):5'- CGGGAGGTGGAGCTTAGC -3'

Sequencing Primer
(F):5'- CCTAAGGGCCTTTTAAAATCTTAACC -3'
(R):5'- AGCTTAGCGGGAGGTGG -3'
Posted On 2015-04-30