|Institutional Source||Beutler Lab|
|Gene Name||peptidase D|
|Synonyms||Pep4, Pep-4, dal, peptidase D|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1734 (G1)|
|Chromosomal Location||34912379-35044708 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 35031426 bp|
|Amino Acid Change||Aspartic acid to Valine at position 301 (D301V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000075683 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000075068]|
|Predicted Effect||probably benign
AA Change: D301V
PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
AA Change: D301V
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.5206|
|Coding Region Coverage||
|Validation Efficiency||98% (59/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase family. The protein forms a homodimer that hydrolyzes dipeptides or tripeptides with C-terminal proline or hydroxyproline residues. The enzyme serves an important role in the recycling of proline, and may be rate limiting for the production of collagen. Mutations in this gene result in prolidase deficiency, which is characterized by the excretion of large amount of di- and tri-peptides containing proline. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutants are smaller than normal siblings and, except on the flanks, an agouti coat appears nonagouti. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pepd||
(F):5'- CCAAGGCCAGGCTTCTTCCTTAG -3'
(R):5'- CCTGCGGTGTCTGTCAGTCAAG -3'
(F):5'- tgagattgtgggggaggg -3'
(R):5'- CAGTCAAGATGTATGTTCAGTCCC -3'