|Institutional Source||Beutler Lab|
|Gene Name||dipeptidylpeptidase 9|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8481 (G1)|
|Chromosomal Location||56186807-56218889 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 56194467 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Tyrosine at position 582 (D582Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000046604 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038794]|
AA Change: D582Y
PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: D582Y
|Coding Region Coverage||
|Validation Efficiency||98% (45/46)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the S9B family in clan SC of the serine proteases. The protein has been shown to have post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins. Although the activity of this protein is similar to that of dipeptidyl peptidase 4 (DPP4), it does not appear to be membrane bound. In general, dipeptidyl peptidases appear to be involved in the regulation of the activity of their substrates and have been linked to a variety of diseases including type 2 diabetes, obesity and cancer. Several transcript variants of this gene have been described but not fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants display partial neonatal lethality and complete lethality at preweaning stages with defects suckling due to undeveveloped tongue muscle. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dpp9||
(F):5'- CCTCTTTTGACCCGAGATGAC -3'
(R):5'- TGATGCCTGTCCATTGAGG -3'
(F):5'- AGATGACTCTTCCCCAGGC -3'
(R):5'- TCCATTGAGGACGAAGCCTG -3'