Incidental Mutation 'IGL02064:Slc15a1'
ID 185538
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc15a1
Ensembl Gene ENSMUSG00000025557
Gene Name solute carrier family 15 (oligopeptide transporter), member 1
Synonyms PECT1, PEPT1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # IGL02064
Quality Score
Status
Chromosome 14
Chromosomal Location 121697033-121742664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121699911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 636 (I636V)
Ref Sequence ENSEMBL: ENSMUSP00000085728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088386]
AlphaFold Q9JIP7
Predicted Effect possibly damaging
Transcript: ENSMUST00000088386
AA Change: I636V

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000085728
Gene: ENSMUSG00000025557
AA Change: I636V

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
Coding Region Coverage
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T C 3: 59,784,463 (GRCm39) L312P probably damaging Het
Acap2 A C 16: 30,946,146 (GRCm39) W284G probably damaging Het
Acsf3 T C 8: 123,506,986 (GRCm39) L93P possibly damaging Het
Agbl2 G T 2: 90,614,368 (GRCm39) probably benign Het
Arap3 C T 18: 38,124,754 (GRCm39) G242D probably damaging Het
Asxl3 G A 18: 22,657,401 (GRCm39) V1804I possibly damaging Het
Bnc1 C A 7: 81,623,251 (GRCm39) V659L probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Car9 A G 4: 43,507,363 (GRCm39) E103G probably benign Het
Chrm4 A G 2: 91,758,176 (GRCm39) T195A probably damaging Het
Cldn10 T C 14: 119,092,424 (GRCm39) I8T probably damaging Het
Col12a1 G A 9: 79,599,654 (GRCm39) S833F probably benign Het
Cryba2 T A 1: 74,929,720 (GRCm39) D139V possibly damaging Het
Emp1 T A 6: 135,354,210 (GRCm39) M1K probably null Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
Exosc4 C A 15: 76,213,836 (GRCm39) A220E probably damaging Het
Fryl A G 5: 73,282,112 (GRCm39) probably benign Het
Grid2 C T 6: 64,040,919 (GRCm39) T287I probably benign Het
Grifin C T 5: 140,550,494 (GRCm39) A7T probably damaging Het
Gzmg T C 14: 56,394,798 (GRCm39) K157E probably benign Het
Kcnq2 A T 2: 180,750,819 (GRCm39) I340N probably damaging Het
Klrb1 T A 6: 128,687,600 (GRCm39) H98L probably benign Het
Krt90 T C 15: 101,471,088 (GRCm39) H58R possibly damaging Het
Krtap5-2 C A 7: 141,729,468 (GRCm39) G71C unknown Het
Krtap7-1 A T 16: 89,305,011 (GRCm39) M47K probably benign Het
Lmntd1 T A 6: 145,373,002 (GRCm39) probably null Het
Ly6g2 A G 15: 75,093,505 (GRCm39) probably benign Het
Musk A G 4: 58,286,128 (GRCm39) N6S possibly damaging Het
Or2aj4 A G 16: 19,385,298 (GRCm39) C112R probably damaging Het
Or51a39 A G 7: 102,362,808 (GRCm39) F271L probably damaging Het
Or56a42-ps1 A T 7: 104,776,241 (GRCm39) F89Y possibly damaging Het
Or5p58 T G 7: 107,694,454 (GRCm39) T108P probably benign Het
Or8c15 T A 9: 38,120,874 (GRCm39) I122N probably damaging Het
Pcdh19 A G X: 132,586,719 (GRCm39) M432T probably benign Het
Prdm1 A G 10: 44,317,338 (GRCm39) F495S probably damaging Het
Prkar2a T C 9: 108,610,403 (GRCm39) Y211H possibly damaging Het
Ralgapa1 C A 12: 55,754,862 (GRCm39) G1143V probably damaging Het
Rbbp7 A G X: 161,552,783 (GRCm39) probably null Het
Scel C A 14: 103,770,762 (GRCm39) H65Q probably damaging Het
Sec24d T C 3: 123,137,463 (GRCm39) probably benign Het
Sfswap C A 5: 129,637,860 (GRCm39) T839N probably benign Het
Slc6a21 T A 7: 44,935,883 (GRCm39) I38N possibly damaging Het
Sucla2 C T 14: 73,816,913 (GRCm39) Q218* probably null Het
Tbc1d14 A T 5: 36,665,019 (GRCm39) L237* probably null Het
Trpm7 C T 2: 126,639,863 (GRCm39) E1578K probably damaging Het
Ttc17 G A 2: 94,161,012 (GRCm39) T896I probably damaging Het
Virma A G 4: 11,513,163 (GRCm39) D339G possibly damaging Het
Vmn2r54 T A 7: 12,349,533 (GRCm39) Y683F probably benign Het
Xrra1 T A 7: 99,563,411 (GRCm39) L466Q probably damaging Het
Other mutations in Slc15a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01337:Slc15a1 APN 14 121,698,091 (GRCm39) missense possibly damaging 0.95
IGL01534:Slc15a1 APN 14 121,702,364 (GRCm39) missense possibly damaging 0.95
IGL01783:Slc15a1 APN 14 121,708,688 (GRCm39) critical splice donor site probably null
IGL01799:Slc15a1 APN 14 121,718,141 (GRCm39) missense possibly damaging 0.76
IGL02064:Slc15a1 APN 14 121,699,886 (GRCm39) missense probably benign 0.20
IGL02115:Slc15a1 APN 14 121,718,073 (GRCm39) missense possibly damaging 0.61
IGL02514:Slc15a1 APN 14 121,724,452 (GRCm39) missense probably damaging 1.00
IGL03056:Slc15a1 APN 14 121,728,695 (GRCm39) missense possibly damaging 0.82
IGL03297:Slc15a1 APN 14 121,724,096 (GRCm39) missense probably damaging 1.00
R1484:Slc15a1 UTSW 14 121,728,651 (GRCm39) nonsense probably null
R1532:Slc15a1 UTSW 14 121,713,396 (GRCm39) missense possibly damaging 0.79
R1655:Slc15a1 UTSW 14 121,703,311 (GRCm39) missense probably benign 0.34
R2013:Slc15a1 UTSW 14 121,713,399 (GRCm39) missense possibly damaging 0.88
R2270:Slc15a1 UTSW 14 121,717,406 (GRCm39) missense probably damaging 0.99
R2878:Slc15a1 UTSW 14 121,703,345 (GRCm39) missense probably benign 0.00
R2986:Slc15a1 UTSW 14 121,727,221 (GRCm39) missense probably benign 0.02
R3862:Slc15a1 UTSW 14 121,722,269 (GRCm39) missense probably benign 0.06
R3863:Slc15a1 UTSW 14 121,722,269 (GRCm39) missense probably benign 0.06
R3978:Slc15a1 UTSW 14 121,727,239 (GRCm39) missense probably benign 0.00
R4184:Slc15a1 UTSW 14 121,703,574 (GRCm39) missense probably benign 0.00
R4573:Slc15a1 UTSW 14 121,724,441 (GRCm39) missense probably damaging 0.99
R4604:Slc15a1 UTSW 14 121,727,319 (GRCm39) missense probably damaging 1.00
R4649:Slc15a1 UTSW 14 121,715,504 (GRCm39) missense probably damaging 1.00
R5838:Slc15a1 UTSW 14 121,722,283 (GRCm39) missense probably damaging 1.00
R6221:Slc15a1 UTSW 14 121,702,316 (GRCm39) missense probably null 1.00
R6891:Slc15a1 UTSW 14 121,713,442 (GRCm39) missense probably benign 0.00
R7626:Slc15a1 UTSW 14 121,713,377 (GRCm39) missense probably benign 0.13
R7836:Slc15a1 UTSW 14 121,718,145 (GRCm39) nonsense probably null
R8284:Slc15a1 UTSW 14 121,727,275 (GRCm39) missense probably benign 0.01
R8376:Slc15a1 UTSW 14 121,718,115 (GRCm39) missense probably benign
R8408:Slc15a1 UTSW 14 121,715,528 (GRCm39) missense possibly damaging 0.91
R8774:Slc15a1 UTSW 14 121,724,423 (GRCm39) missense probably damaging 1.00
R8774-TAIL:Slc15a1 UTSW 14 121,724,423 (GRCm39) missense probably damaging 1.00
R8933:Slc15a1 UTSW 14 121,724,091 (GRCm39) missense probably benign 0.00
R9157:Slc15a1 UTSW 14 121,702,389 (GRCm39) missense probably benign 0.08
Z1088:Slc15a1 UTSW 14 121,728,456 (GRCm39) missense probably damaging 1.00
Z1088:Slc15a1 UTSW 14 121,717,466 (GRCm39) missense probably benign 0.09
Posted On 2014-05-07