Incidental Mutation 'R8774-TAIL:Slc15a1'
ID 667994
Institutional Source Beutler Lab
Gene Symbol Slc15a1
Ensembl Gene ENSMUSG00000025557
Gene Name solute carrier family 15 (oligopeptide transporter), member 1
Synonyms PECT1, PEPT1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock # R8774-TAIL
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 121459621-121505252 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 121487011 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 150 (Q150K)
Ref Sequence ENSEMBL: ENSMUSP00000085728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088386]
AlphaFold Q9JIP7
Predicted Effect probably damaging
Transcript: ENSMUST00000088386
AA Change: Q150K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085728
Gene: ENSMUSG00000025557
AA Change: Q150K

DomainStartEndE-ValueType
Pfam:PTR2 81 477 1.9e-141 PFAM
Pfam:PTR2 562 644 4.2e-11 PFAM
transmembrane domain 650 672 N/A INTRINSIC
low complexity region 684 695 N/A INTRINSIC
Meta Mutation Damage Score 0.8227 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an intestinal hydrogen peptide cotransporter that is a member of the solute carrier family 15. The encoded protein is localized to the brush border membrane of the intestinal epithelium and mediates the uptake of di- and tripeptides from the lumen into the enterocytes. This protein plays an important role in the uptake and digestion of dietary proteins. This protein also facilitates the absorption of numerous peptidomimetic drugs. [provided by RefSeq, Apr 2010]
PHENOTYPE: Peptide uptake in the intestine is substantially reduced in mice homozygous for a null mutation of this gene. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik T C 4: 42,971,087 L140P probably damaging Het
Abca1 A G 4: 53,090,358 S364P possibly damaging Het
Abcc2 T A 19: 43,799,138 Y208N probably damaging Het
Acy1 A T 9: 106,436,714 D82E probably damaging Het
Ankub1 A G 3: 57,690,381 L56P probably damaging Het
Aoc1 T A 6: 48,908,595 F678Y probably damaging Het
Asxl3 C A 18: 22,524,044 Q1704K probably damaging Het
Atg9b T C 5: 24,390,573 D236G probably damaging Het
Auh A T 13: 52,839,595 M261K probably benign Het
Blm TCC TCCGCC 7: 80,512,907 probably benign Het
Blm CTC CTCATC 7: 80,512,918 probably benign Het
Blm TCC TCCGCC 7: 80,512,919 probably benign Het
C2cd6 A T 1: 59,060,666 M372K possibly damaging Het
Ccdc88b A T 19: 6,847,722 N1287K probably damaging Het
Cebpz A G 17: 78,921,644 S958P probably benign Het
Cgn T A 3: 94,773,500 Q576L probably damaging Het
Chd7 T A 4: 8,854,692 M2011K probably damaging Het
Cntnap4 A G 8: 112,803,188 E676G probably benign Het
Cspp1 A T 1: 10,112,914 E781D possibly damaging Het
Cyb5d2 A C 11: 72,789,075 probably null Het
Epn3 G T 11: 94,492,394 P335T possibly damaging Het
Fam160a1 G C 3: 85,672,790 Q703E probably benign Het
Far2 T A 6: 148,146,131 S103T probably benign Het
Fhl2 A G 1: 43,123,591 S255P probably damaging Het
Fmnl2 T A 2: 53,042,309 V100D Het
Gabbr1 T C 17: 37,071,857 L814P probably damaging Het
Gzmg C T 14: 56,156,736 V234I probably benign Het
Ift172 A G 5: 31,257,863 V1334A probably benign Het
Itga8 C G 2: 12,182,684 G728A probably damaging Het
Klrg1 T C 6: 122,278,234 T80A probably benign Het
Lrp4 A G 2: 91,477,698 N496S probably benign Het
Lsmem1 G T 12: 40,177,146 N113K probably damaging Het
Map3k2 G A 18: 32,212,064 S314N probably damaging Het
Mtpap C T 18: 4,387,032 R361* probably null Het
Muc5b T A 7: 141,865,094 S3926T probably benign Het
Nat10 C A 2: 103,731,407 R643L probably damaging Het
Ncbp3 T C 11: 73,047,982 V28A probably benign Het
Nlrp9a T C 7: 26,558,559 L534P possibly damaging Het
Nmi T C 2: 51,958,962 K39E probably benign Het
Nxpe4 A G 9: 48,393,392 N260D probably benign Het
Olfr1282 T C 2: 111,335,973 Y35C probably damaging Het
Olfr612 C A 7: 103,538,758 V159L probably benign Het
Olfr806 T A 10: 129,738,057 I287F probably damaging Het
Olfr897-ps1 G A 9: 38,309,304 A170T unknown Het
Pirb G T 7: 3,717,729 L257M probably damaging Het
Plcg2 A T 8: 117,579,846 D313V possibly damaging Het
Ppard G A 17: 28,298,890 V311I possibly damaging Het
Ptcd1 A T 5: 145,155,365 M308K probably damaging Het
Pygo1 A G 9: 72,945,154 N208D possibly damaging Het
Robo1 T G 16: 73,035,831 D1497E probably benign Het
Sdk2 T C 11: 113,839,343 D1022G probably damaging Het
Shc3 G A 13: 51,461,439 H161Y probably damaging Het
Sod1 T G 16: 90,226,151 V120G probably damaging Het
Sprr2f T A 3: 92,366,016 C41S unknown Het
Svil A T 18: 5,049,068 Y115F probably damaging Het
Tdp1 T C 12: 99,911,658 S400P probably damaging Het
Thbs4 A T 13: 92,761,522 D596E probably damaging Het
Tshz1 T A 18: 84,014,976 M436L possibly damaging Het
Ube3c C T 5: 29,607,031 T423I probably benign Het
Unc93a A T 17: 13,122,950 I98N probably damaging Het
Usp33 T A 3: 152,379,576 Y624* probably null Het
Vmn1r217 T A 13: 23,113,938 M265L probably benign Het
Vmn1r222 A T 13: 23,232,248 M265K probably benign Het
Vmn2r16 C T 5: 109,340,365 T368M probably benign Het
Zfp867 A G 11: 59,464,011 F164S probably damaging Het
Zswim1 C T 2: 164,826,142 T438I probably benign Het
Other mutations in Slc15a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01337:Slc15a1 APN 14 121460679 missense possibly damaging 0.95
IGL01534:Slc15a1 APN 14 121464952 missense possibly damaging 0.95
IGL01783:Slc15a1 APN 14 121471276 critical splice donor site probably null
IGL01799:Slc15a1 APN 14 121480729 missense possibly damaging 0.76
IGL02064:Slc15a1 APN 14 121462499 missense possibly damaging 0.66
IGL02064:Slc15a1 APN 14 121462474 missense probably benign 0.20
IGL02115:Slc15a1 APN 14 121480661 missense possibly damaging 0.61
IGL02514:Slc15a1 APN 14 121487040 missense probably damaging 1.00
IGL03056:Slc15a1 APN 14 121491283 missense possibly damaging 0.82
IGL03297:Slc15a1 APN 14 121486684 missense probably damaging 1.00
R1484:Slc15a1 UTSW 14 121491239 nonsense probably null
R1532:Slc15a1 UTSW 14 121475984 missense possibly damaging 0.79
R1655:Slc15a1 UTSW 14 121465899 missense probably benign 0.34
R2013:Slc15a1 UTSW 14 121475987 missense possibly damaging 0.88
R2270:Slc15a1 UTSW 14 121479994 missense probably damaging 0.99
R2878:Slc15a1 UTSW 14 121465933 missense probably benign 0.00
R2986:Slc15a1 UTSW 14 121489809 missense probably benign 0.02
R3862:Slc15a1 UTSW 14 121484857 missense probably benign 0.06
R3863:Slc15a1 UTSW 14 121484857 missense probably benign 0.06
R3978:Slc15a1 UTSW 14 121489827 missense probably benign 0.00
R4184:Slc15a1 UTSW 14 121466162 missense probably benign 0.00
R4573:Slc15a1 UTSW 14 121487029 missense probably damaging 0.99
R4604:Slc15a1 UTSW 14 121489907 missense probably damaging 1.00
R4649:Slc15a1 UTSW 14 121478092 missense probably damaging 1.00
R5838:Slc15a1 UTSW 14 121484871 missense probably damaging 1.00
R6221:Slc15a1 UTSW 14 121464904 missense probably null 1.00
R6891:Slc15a1 UTSW 14 121476030 missense probably benign 0.00
R7626:Slc15a1 UTSW 14 121475965 missense probably benign 0.13
R7836:Slc15a1 UTSW 14 121480733 nonsense probably null
R8284:Slc15a1 UTSW 14 121489863 missense probably benign 0.01
R8376:Slc15a1 UTSW 14 121480703 missense probably benign
R8408:Slc15a1 UTSW 14 121478116 missense possibly damaging 0.91
R8774:Slc15a1 UTSW 14 121487011 missense probably damaging 1.00
R8933:Slc15a1 UTSW 14 121486679 missense probably benign 0.00
R9157:Slc15a1 UTSW 14 121464977 missense probably benign 0.08
Z1088:Slc15a1 UTSW 14 121480054 missense probably benign 0.09
Z1088:Slc15a1 UTSW 14 121491044 missense probably damaging 1.00
Predicted Primers
Posted On 2021-03-08