Incidental Mutation 'R2270:Slc15a1'
ID 242421
Institutional Source Beutler Lab
Gene Symbol Slc15a1
Ensembl Gene ENSMUSG00000025557
Gene Name solute carrier family 15 (oligopeptide transporter), member 1
Synonyms PECT1, PEPT1
MMRRC Submission 040270-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R2270 (G1)
Quality Score 182
Status Not validated
Chromosome 14
Chromosomal Location 121697033-121742664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121717406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 292 (M292K)
Ref Sequence ENSEMBL: ENSMUSP00000085728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088386]
AlphaFold Q9JIP7
Predicted Effect probably damaging
Transcript: ENSMUST00000088386
AA Change: M292K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000085728
Gene: ENSMUSG00000025557
AA Change: M292K

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227372
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.6%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 G A 19: 57,065,863 (GRCm39) R54W possibly damaging Het
Adam22 T C 5: 8,171,108 (GRCm39) E614G probably damaging Het
Ap4e1 T C 2: 126,889,083 (GRCm39) probably null Het
Arid3c T A 4: 41,724,744 (GRCm39) I364F probably damaging Het
Atp11b A G 3: 35,864,283 (GRCm39) probably null Het
Bmal2 T C 6: 146,723,612 (GRCm39) F314S probably damaging Het
Carnmt1 T C 19: 18,680,734 (GRCm39) L336P probably damaging Het
Cdh22 A T 2: 164,985,767 (GRCm39) probably null Het
Cdk5rap2 A C 4: 70,184,915 (GRCm39) S1178R probably benign Het
Chat T C 14: 32,176,538 (GRCm39) R79G probably damaging Het
Chek1 A G 9: 36,630,982 (GRCm39) L144P probably damaging Het
Cracr2a T A 6: 127,584,261 (GRCm39) F107I probably damaging Het
Crip2 A C 12: 113,108,486 (GRCm39) K62N probably damaging Het
Ddc T C 11: 11,785,764 (GRCm39) N308D probably damaging Het
Dnm3 A T 1: 162,305,358 (GRCm39) L12Q probably damaging Het
Eftud2 T C 11: 102,755,607 (GRCm39) N200S probably damaging Het
Fgfbp1 T A 5: 44,136,672 (GRCm39) M207L probably benign Het
Fry A G 5: 150,324,389 (GRCm39) I1151V probably null Het
Garem2 T G 5: 30,321,972 (GRCm39) L777R probably damaging Het
Garin5b T A 7: 4,761,186 (GRCm39) T509S probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gpr143 T A X: 151,573,566 (GRCm39) V181E probably damaging Het
Gtf2f1 T C 17: 57,310,462 (GRCm39) I498V probably null Het
Ipo4 A G 14: 55,871,557 (GRCm39) L168P probably damaging Het
Ism1 T A 2: 139,599,293 (GRCm39) I415N probably damaging Het
Lipa T A 19: 34,488,290 (GRCm39) R119* probably null Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mre11a A G 9: 14,726,470 (GRCm39) E411G probably benign Het
Mybpc1 C A 10: 88,387,269 (GRCm39) V106F probably benign Het
Myo5b G T 18: 74,866,996 (GRCm39) L1382F probably damaging Het
N4bp3 A T 11: 51,535,132 (GRCm39) N352K probably benign Het
Ncbp2 T C 16: 31,775,769 (GRCm39) Y138H probably damaging Het
Ncor2 A G 5: 125,115,019 (GRCm39) V515A probably benign Het
Ndufv1 C A 19: 4,058,347 (GRCm39) R359L probably benign Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Olfm4 C A 14: 80,249,315 (GRCm39) T144K probably damaging Het
Or11g25 G T 14: 50,723,494 (GRCm39) C193F probably damaging Het
Or8b12i T A 9: 20,082,705 (GRCm39) H54L possibly damaging Het
Pes1 C A 11: 3,919,524 (GRCm39) L66I probably damaging Het
Phf12 G T 11: 77,875,001 (GRCm39) A76S possibly damaging Het
Plb1 G T 5: 32,450,586 (GRCm39) D376Y probably damaging Het
Prkdc A G 16: 15,472,681 (GRCm39) probably null Het
Prkg1 A G 19: 30,556,031 (GRCm39) V610A probably benign Het
Prrc2a T C 17: 35,368,512 (GRCm39) T2104A possibly damaging Het
Rab3gap2 T A 1: 185,015,739 (GRCm39) probably null Het
Ranbp2 T C 10: 58,291,749 (GRCm39) V252A probably benign Het
Rcn3 A G 7: 44,738,075 (GRCm39) S98P probably damaging Het
Rere T C 4: 150,561,837 (GRCm39) S248P unknown Het
Rnaseh2a T C 8: 85,692,048 (GRCm39) E75G probably benign Het
Slc1a2 T G 2: 102,566,339 (GRCm39) L14R probably damaging Het
Slfn2 C T 11: 82,960,761 (GRCm39) R247C probably damaging Het
Ttn T C 2: 76,778,708 (GRCm39) I1218M probably damaging Het
Usp7 T C 16: 8,516,333 (GRCm39) S649G probably benign Het
Yme1l1 T C 2: 23,065,232 (GRCm39) I247T possibly damaging Het
Zc3h13 T C 14: 75,569,587 (GRCm39) M1478T probably benign Het
Zfp444 T C 7: 6,192,554 (GRCm39) C191R probably damaging Het
Zfp729b A T 13: 67,740,352 (GRCm39) C648S probably damaging Het
Znhit2 A G 19: 6,111,261 (GRCm39) E2G probably damaging Het
Zpbp A T 11: 11,368,272 (GRCm39) M133K probably benign 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
IGL02064:Slc15a1 APN 14 121,699,911 (GRCm39) missense possibly damaging 0.66
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
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
Predicted Primers PCR Primer
(F):5'- GAAACAAACCTCACTTTCTTCACTG -3'
(R):5'- TTTCCTAGAGAAACCCGCGC -3'

Sequencing Primer
(F):5'- CTGATTCACAATAGACATGCGG -3'
(R):5'- GCGCTCACATCCTTTAGACTGAC -3'
Posted On 2014-10-16