Incidental Mutation 'R5490:Pepd'
ID 432040
Institutional Source Beutler Lab
Gene Symbol Pepd
Ensembl Gene ENSMUSG00000063931
Gene Name peptidase D
Synonyms dal, peptidase D, Pep4, Pep-4
MMRRC Submission 043051-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5490 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 34611832-34744131 bp(+) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) A to G at 34642115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000075683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075068]
AlphaFold Q11136
Predicted Effect probably null
Transcript: ENSMUST00000075068
SMART Domains Protein: ENSMUSP00000075683
Gene: ENSMUSG00000063931

DomainStartEndE-ValueType
AMP_N 18 155 2.71e-39 SMART
Pfam:Peptidase_M24 193 459 5.4e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104281
Predicted Effect probably benign
Transcript: ENSMUST00000161900
SMART Domains Protein: ENSMUSP00000133634
Gene: ENSMUSG00000063931

DomainStartEndE-ValueType
Blast:AMP_N 2 35 3e-15 BLAST
PDB:2OKN|B 2 76 1e-43 PDB
SCOP:d1b6a_2 7 77 2e-12 SMART
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.8%
Validation Efficiency
MGI Phenotype 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
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf C T 11: 84,401,099 (GRCm39) G174D probably damaging Het
Abcc1 G T 16: 14,228,781 (GRCm39) G343C probably damaging Het
Asic2 T C 11: 80,780,646 (GRCm39) N370S probably benign Het
Btnl9 T C 11: 49,060,395 (GRCm39) E451G probably damaging Het
Cblb A G 16: 51,994,733 (GRCm39) H658R possibly damaging Het
Cdca2 T C 14: 67,917,733 (GRCm39) E555G possibly damaging Het
Chfr A G 5: 110,300,995 (GRCm39) S299G possibly damaging Het
Eea1 A G 10: 95,861,916 (GRCm39) E741G probably benign Het
Gapvd1 T C 2: 34,583,445 (GRCm39) D1057G probably benign Het
Glyat C T 19: 12,627,645 (GRCm39) T80M probably benign Het
Gpr87 T C 3: 59,086,747 (GRCm39) S253G probably damaging Het
Hapstr1 T A 16: 8,673,721 (GRCm39) V216E probably damaging Het
Hmgxb3 A G 18: 61,296,049 (GRCm39) S320P probably damaging Het
Kcnq5 C T 1: 21,549,692 (GRCm39) G345D probably damaging Het
Kif5c T C 2: 49,648,870 (GRCm39) V938A probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Madd G T 2: 91,000,980 (GRCm39) T467K possibly damaging Het
Mamdc4 T C 2: 25,455,890 (GRCm39) D706G probably damaging Het
Map2 A G 1: 66,452,292 (GRCm39) H476R probably damaging Het
Mgat4f A G 1: 134,317,666 (GRCm39) D146G probably damaging Het
Mpeg1 T C 19: 12,439,057 (GRCm39) S172P probably damaging Het
Nkx2-3 A T 19: 43,601,093 (GRCm39) T52S probably benign Het
Nup210 C T 6: 91,062,970 (GRCm39) V230I probably damaging Het
Or1j19 T A 2: 36,677,193 (GRCm39) Y219N probably damaging Het
Or51f2 T C 7: 102,527,100 (GRCm39) S258P probably damaging Het
Or5g9 G T 2: 85,552,666 (GRCm39) A306S probably benign Het
Ppp1r36 T A 12: 76,484,760 (GRCm39) W238R probably damaging Het
Ppp1r36 G T 12: 76,484,761 (GRCm39) W238L possibly damaging Het
Prpf6 T G 2: 181,249,958 (GRCm39) D39E probably benign Het
Rassf5 T A 1: 131,108,932 (GRCm39) Q163L possibly damaging Het
Rbm43 T A 2: 51,815,607 (GRCm39) T205S probably benign Het
Relch T A 1: 105,647,226 (GRCm39) V672D probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sds C A 5: 120,621,715 (GRCm39) Q286K possibly damaging Het
Slc35a3 A T 3: 116,474,839 (GRCm39) C184* probably null Het
Smg1 G A 7: 117,738,659 (GRCm39) T3530I possibly damaging Het
Sspo T C 6: 48,470,214 (GRCm39) V591A probably benign Het
Stam2 T C 2: 52,610,929 (GRCm39) D31G probably damaging Het
Star A G 8: 26,299,945 (GRCm39) K96E probably damaging Het
Syne3 A G 12: 104,921,931 (GRCm39) L495P probably damaging Het
Tceanc2 A T 4: 107,022,846 (GRCm39) M47K probably benign Het
Tecpr2 T C 12: 110,881,118 (GRCm39) L85P probably damaging Het
Tmem241 C T 18: 12,176,320 (GRCm39) R116K probably benign Het
Yipf2 G A 9: 21,503,487 (GRCm39) A20V probably benign Het
Zc3h4 T A 7: 16,162,930 (GRCm39) D443E unknown Het
Zfp184 T A 13: 22,142,747 (GRCm39) V151D probably benign Het
Zhx1 T C 15: 57,916,695 (GRCm39) Y517C probably damaging Het
Other mutations in Pepd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01522:Pepd APN 7 34,623,865 (GRCm39) missense probably benign
IGL02102:Pepd APN 7 34,645,028 (GRCm39) missense probably damaging 1.00
R1256:Pepd UTSW 7 34,620,917 (GRCm39) missense possibly damaging 0.95
R1690:Pepd UTSW 7 34,730,782 (GRCm39) missense probably damaging 1.00
R1734:Pepd UTSW 7 34,730,851 (GRCm39) missense probably benign 0.07
R1911:Pepd UTSW 7 34,634,174 (GRCm39) splice site probably benign
R1918:Pepd UTSW 7 34,671,101 (GRCm39) missense probably benign 0.00
R2144:Pepd UTSW 7 34,620,843 (GRCm39) missense probably benign 0.09
R4814:Pepd UTSW 7 34,645,022 (GRCm39) missense probably damaging 0.96
R4924:Pepd UTSW 7 34,720,409 (GRCm39) missense probably benign 0.24
R5669:Pepd UTSW 7 34,740,099 (GRCm39) missense probably benign 0.38
R6240:Pepd UTSW 7 34,721,176 (GRCm39) missense probably benign 0.00
R6300:Pepd UTSW 7 34,668,968 (GRCm39) missense probably damaging 1.00
R6479:Pepd UTSW 7 34,740,147 (GRCm39) missense probably benign 0.00
R6995:Pepd UTSW 7 34,721,144 (GRCm39) missense probably damaging 1.00
R7303:Pepd UTSW 7 34,721,197 (GRCm39) critical splice donor site probably null
R7587:Pepd UTSW 7 34,668,965 (GRCm39) missense probably damaging 1.00
R8008:Pepd UTSW 7 34,721,126 (GRCm39) missense probably benign 0.22
R8672:Pepd UTSW 7 34,642,107 (GRCm39) missense probably damaging 0.97
R8815:Pepd UTSW 7 34,671,116 (GRCm39) missense probably damaging 1.00
R9037:Pepd UTSW 7 34,720,398 (GRCm39) missense probably benign
R9489:Pepd UTSW 7 34,743,218 (GRCm39) missense probably benign 0.10
R9605:Pepd UTSW 7 34,743,218 (GRCm39) missense probably benign 0.10
R9646:Pepd UTSW 7 34,620,882 (GRCm39) missense possibly damaging 0.47
X0021:Pepd UTSW 7 34,653,988 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTGTGGTGGAGCACAAGAGC -3'
(R):5'- CACAGGTGACCAGTTCTCAG -3'

Sequencing Primer
(F):5'- AGAGCTCCCGTCACAGCAG -3'
(R):5'- AGGTGACCAGTTCTCAGCTTCTC -3'
Posted On 2016-10-05