Incidental Mutation 'PIT4449001:Dpp4'
ID 555720
Institutional Source Beutler Lab
Gene Symbol Dpp4
Ensembl Gene ENSMUSG00000035000
Gene Name dipeptidylpeptidase 4
Synonyms Cd26, THAM, Dpp-4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4449001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 62160417-62242575 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 62186988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 507 (K507N)
Ref Sequence ENSEMBL: ENSMUSP00000044050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047812]
AlphaFold P28843
Predicted Effect probably benign
Transcript: ENSMUST00000047812
AA Change: K507N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000044050
Gene: ENSMUSG00000035000
AA Change: K507N

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:DPPIV_N 102 473 5.7e-110 PFAM
Pfam:Abhydrolase_5 545 752 1e-11 PFAM
Pfam:DLH 546 754 4e-7 PFAM
Pfam:Peptidase_S9 551 760 3.4e-61 PFAM
Coding Region Coverage
  • 1x: 93.3%
  • 3x: 90.8%
  • 10x: 84.7%
  • 20x: 71.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is identical to adenosine deaminase complexing protein-2, and to the T-cell activation antigen CD26. It is an intrinsic membrane glycoprotein and a serine exopeptidase that cleaves X-proline dipeptides from the N-terminus of polypeptides. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants show hypoglycemia, hyperinsulinemia, and increased plasma glucagon-like peptide 1 in glucose tolerance tests. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asf1b A G 8: 84,694,611 (GRCm39) N125S probably benign Het
BC048671 T A 6: 90,282,145 (GRCm39) L101I probably damaging Het
Camta1 A G 4: 151,216,043 (GRCm39) L959P probably benign Het
Cfap91 T C 16: 38,148,720 (GRCm39) E236G probably damaging Het
Cfh C A 1: 140,040,303 (GRCm39) V598F probably damaging Het
Cyp2j7 G T 4: 96,103,575 (GRCm39) T320K probably damaging Het
Ddr1 A G 17: 35,998,141 (GRCm39) I468T possibly damaging Het
Dhx15 A G 5: 52,318,300 (GRCm39) V510A probably damaging Het
Evpl G A 11: 116,124,225 (GRCm39) T198M possibly damaging Het
Gabbr1 G A 17: 37,367,242 (GRCm39) V373I probably damaging Het
Gak A T 5: 108,728,791 (GRCm39) S1049T probably benign Het
Gipr C T 7: 18,894,543 (GRCm39) R253H probably benign Het
Gm3685 T A 14: 7,043,960 (GRCm38) M73L probably benign Het
Gm5168 C T X: 25,994,840 (GRCm39) R129Q probably null Het
Kcnh1 T A 1: 192,100,992 (GRCm39) V555D probably damaging Het
Kif26b T C 1: 178,745,651 (GRCm39) S1916P probably damaging Het
Lingo4 T C 3: 94,309,239 (GRCm39) V59A probably benign Het
Mroh8 T A 2: 157,067,454 (GRCm39) Q635L probably damaging Het
Msh6 T A 17: 88,293,616 (GRCm39) D790E probably damaging Het
Nrxn1 A T 17: 90,905,007 (GRCm39) W809R probably damaging Het
Or5ac19 C A 16: 59,089,493 (GRCm39) C179F probably damaging Het
Polr3d T C 14: 70,676,903 (GRCm39) H397R probably benign Het
Pwp2 G A 10: 78,014,304 (GRCm39) T432I probably benign Het
Rad21 G C 15: 51,836,639 (GRCm39) F177L probably benign Het
Rnf182 G A 13: 43,822,153 (GRCm39) V235I probably benign Het
Scn11a C T 9: 119,599,014 (GRCm39) C1172Y probably damaging Het
Sh2b3 A G 5: 121,966,742 (GRCm39) L124P possibly damaging Het
Six2 T C 17: 85,992,906 (GRCm39) N199S probably benign Het
Slc5a3 A G 16: 91,874,702 (GRCm39) D253G probably benign Het
Synm A G 7: 67,385,025 (GRCm39) M879T probably benign Het
Tasp1 A G 2: 139,752,455 (GRCm39) I328T possibly damaging Het
Tbrg4 T C 11: 6,569,689 (GRCm39) Q309R probably damaging Het
Tmtc2 A G 10: 105,139,465 (GRCm39) L687P probably damaging Het
Trgc3 A T 13: 19,447,532 (GRCm39) R162* probably null Het
Tufm T C 7: 126,086,621 (GRCm39) M1T probably null Het
Vmn2r116 A C 17: 23,607,921 (GRCm39) L496F probably benign Het
Vmn2r75 C T 7: 85,814,791 (GRCm39) C234Y probably damaging Het
Wars2 G T 3: 99,112,595 (GRCm39) V162L possibly damaging Het
Zc3h11a A T 1: 133,552,349 (GRCm39) V586D probably benign Het
Zdhhc5 A T 2: 84,520,571 (GRCm39) N535K probably damaging Het
Zfp52 T C 17: 21,777,478 (GRCm39) Y38H probably damaging Het
Zfp729b T C 13: 67,739,542 (GRCm39) M908V probably benign Het
Zfp772 T C 7: 7,207,350 (GRCm39) I114V probably benign Het
Other mutations in Dpp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Dpp4 APN 2 62,209,646 (GRCm39) missense probably damaging 1.00
IGL02205:Dpp4 APN 2 62,182,601 (GRCm39) missense probably damaging 1.00
IGL02276:Dpp4 APN 2 62,187,295 (GRCm39) splice site probably benign
IGL02335:Dpp4 APN 2 62,164,988 (GRCm39) missense probably benign 0.03
IGL02615:Dpp4 APN 2 62,189,672 (GRCm39) missense probably damaging 1.00
IGL02639:Dpp4 APN 2 62,182,584 (GRCm39) missense probably benign
IGL02972:Dpp4 APN 2 62,182,569 (GRCm39) missense probably damaging 1.00
IGL03366:Dpp4 APN 2 62,187,301 (GRCm39) splice site probably null
caribou UTSW 2 62,178,245 (GRCm39) missense possibly damaging 0.69
R0502:Dpp4 UTSW 2 62,195,332 (GRCm39) missense probably damaging 0.99
R0581:Dpp4 UTSW 2 62,187,020 (GRCm39) missense probably benign
R1004:Dpp4 UTSW 2 62,162,984 (GRCm39) missense probably benign 0.08
R1075:Dpp4 UTSW 2 62,182,630 (GRCm39) missense probably benign 0.39
R1476:Dpp4 UTSW 2 62,178,245 (GRCm39) missense possibly damaging 0.69
R1702:Dpp4 UTSW 2 62,216,773 (GRCm39) critical splice donor site probably null
R1707:Dpp4 UTSW 2 62,189,679 (GRCm39) splice site probably benign
R1733:Dpp4 UTSW 2 62,203,213 (GRCm39) critical splice acceptor site probably null
R1899:Dpp4 UTSW 2 62,175,394 (GRCm39) splice site probably benign
R2264:Dpp4 UTSW 2 62,208,583 (GRCm39) missense possibly damaging 0.71
R2496:Dpp4 UTSW 2 62,217,477 (GRCm39) missense possibly damaging 0.90
R3765:Dpp4 UTSW 2 62,216,780 (GRCm39) missense probably benign 0.17
R4278:Dpp4 UTSW 2 62,209,667 (GRCm39) missense probably damaging 1.00
R4413:Dpp4 UTSW 2 62,217,484 (GRCm39) missense possibly damaging 0.89
R4432:Dpp4 UTSW 2 62,175,456 (GRCm39) missense probably damaging 1.00
R4647:Dpp4 UTSW 2 62,164,949 (GRCm39) missense probably damaging 1.00
R4710:Dpp4 UTSW 2 62,190,659 (GRCm39) missense probably benign 0.04
R4914:Dpp4 UTSW 2 62,178,236 (GRCm39) missense probably benign 0.20
R5173:Dpp4 UTSW 2 62,217,474 (GRCm39) missense probably damaging 1.00
R5283:Dpp4 UTSW 2 62,190,680 (GRCm39) missense probably damaging 1.00
R5698:Dpp4 UTSW 2 62,164,655 (GRCm39) missense probably damaging 1.00
R6621:Dpp4 UTSW 2 62,182,484 (GRCm39) missense probably damaging 1.00
R6681:Dpp4 UTSW 2 62,178,893 (GRCm39) missense probably benign 0.01
R6739:Dpp4 UTSW 2 62,217,439 (GRCm39) missense probably benign
R6962:Dpp4 UTSW 2 62,203,174 (GRCm39) missense probably benign 0.11
R7249:Dpp4 UTSW 2 62,215,547 (GRCm39) missense probably benign 0.14
R7268:Dpp4 UTSW 2 62,178,186 (GRCm39) missense probably damaging 1.00
R7343:Dpp4 UTSW 2 62,189,245 (GRCm39) nonsense probably null
R7357:Dpp4 UTSW 2 62,217,421 (GRCm39) missense probably benign
R7366:Dpp4 UTSW 2 62,184,943 (GRCm39) missense probably damaging 1.00
R7413:Dpp4 UTSW 2 62,187,333 (GRCm39) missense probably damaging 1.00
R7431:Dpp4 UTSW 2 62,182,582 (GRCm39) missense probably benign 0.01
R7642:Dpp4 UTSW 2 62,190,627 (GRCm39) critical splice donor site probably null
R8004:Dpp4 UTSW 2 62,189,172 (GRCm39) missense probably benign 0.00
R8197:Dpp4 UTSW 2 62,203,171 (GRCm39) missense probably benign 0.31
R8341:Dpp4 UTSW 2 62,178,234 (GRCm39) missense probably benign 0.10
R8706:Dpp4 UTSW 2 62,208,647 (GRCm39) missense probably benign 0.00
R8977:Dpp4 UTSW 2 62,204,747 (GRCm39) missense probably benign 0.29
R8997:Dpp4 UTSW 2 62,164,958 (GRCm39) missense probably damaging 0.99
R9100:Dpp4 UTSW 2 62,204,733 (GRCm39) missense possibly damaging 0.51
R9616:Dpp4 UTSW 2 62,217,429 (GRCm39) missense probably damaging 1.00
R9777:Dpp4 UTSW 2 62,195,340 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TCCTGAGTGGAAACAGAAACTG -3'
(R):5'- TAGAGACTTACCCAGGAGTTAAGAC -3'

Sequencing Primer
(F):5'- TGAAGAGAAAGAAGCGTTTCTAACTC -3'
(R):5'- GGAGTTAAGACATAAGCCTTCCTC -3'
Posted On 2019-06-07