Incidental Mutation 'R0603:Pgpep1'
ID 55552
Institutional Source Beutler Lab
Gene Symbol Pgpep1
Ensembl Gene ENSMUSG00000056204
Gene Name pyroglutamyl-peptidase I
Synonyms PGP-I, Pcp, 2810003H13Rik
MMRRC Submission 038792-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R0603 (G1)
Quality Score 136
Status Not validated
Chromosome 8
Chromosomal Location 71099085-71113038 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71103283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 120 (E120G)
Ref Sequence ENSEMBL: ENSMUSP00000147879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070173] [ENSMUST00000209768] [ENSMUST00000210193] [ENSMUST00000210307] [ENSMUST00000211715]
AlphaFold Q9ESW8
Predicted Effect probably benign
Transcript: ENSMUST00000070173
AA Change: E197G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000070778
Gene: ENSMUSG00000056204
AA Change: E197G

DomainStartEndE-ValueType
Pfam:Peptidase_C15 6 185 1.2e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209768
Predicted Effect probably benign
Transcript: ENSMUST00000210193
Predicted Effect probably benign
Transcript: ENSMUST00000210307
AA Change: E120G

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210459
Predicted Effect probably benign
Transcript: ENSMUST00000210786
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211526
Predicted Effect silent
Transcript: ENSMUST00000211715
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a cysteine protease and member of the peptidase C15 family of proteins. The encoded protein cleaves amino terminal pyroglutamate residues from protein substrates including thyrotropin-releasing hormone and other neuropeptides. Expression of this gene may be downregulated in colorectal cancer, while activity of the encoded protein may be negatively correlated with cancer progression in colorectal cancer patients. Activity of the encoded protease may also be altered in other disease states including in liver cirrhosis, which is associated with reduced protease activity, and in necrozoospermia, which is associated with elevated protease activity. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc7 A G 5: 122,578,233 (GRCm39) N406S probably benign Het
Arhgap4 C T X: 72,950,389 (GRCm39) R54Q probably damaging Het
Asb15 T A 6: 24,556,556 (GRCm39) I17N probably damaging Het
Atp8a1 T C 5: 67,914,039 (GRCm39) probably null Het
Caprin1 A G 2: 103,627,146 (GRCm39) V47A probably benign Het
Col4a2 T C 8: 11,464,779 (GRCm39) V348A probably benign Het
Disp2 A G 2: 118,622,487 (GRCm39) K1073R probably damaging Het
Dmxl2 G A 9: 54,313,190 (GRCm39) H1686Y possibly damaging Het
Dzank1 C T 2: 144,353,432 (GRCm39) V152I probably benign Het
Elp1 A T 4: 56,792,105 (GRCm39) I221N possibly damaging Het
Evl T A 12: 108,614,681 (GRCm39) I25N probably damaging Het
Fam117a A G 11: 95,271,699 (GRCm39) K424E probably damaging Het
Gm17732 C T 18: 62,795,823 (GRCm39) probably benign Het
Gpr158 T C 2: 21,820,480 (GRCm39) I659T possibly damaging Het
Hectd4 T A 5: 121,442,400 (GRCm39) V1280E possibly damaging Het
Irs4 T C X: 140,508,071 (GRCm39) T42A probably damaging Het
Kdm4a C T 4: 117,999,708 (GRCm39) V905I probably damaging Het
Lmtk3 T A 7: 45,444,980 (GRCm39) probably benign Het
Lsp1 G A 7: 142,043,115 (GRCm39) R221H probably damaging Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Mmut A T 17: 41,258,057 (GRCm39) I408F probably damaging Het
Nckap1 A T 2: 80,343,073 (GRCm39) V942E probably benign Het
Neto1 T A 18: 86,491,785 (GRCm39) C229S possibly damaging Het
Nipal2 A G 15: 34,650,544 (GRCm39) I63T probably damaging Het
Or11g2 T C 14: 50,855,967 (GRCm39) I96T probably damaging Het
Or1af1 G A 2: 37,110,118 (GRCm39) V206I probably damaging Het
Or4k49 A T 2: 111,495,225 (GRCm39) Y218F probably damaging Het
Or7e165 A T 9: 19,695,235 (GRCm39) R269W probably damaging Het
Or8g36 C A 9: 39,422,810 (GRCm39) V69F possibly damaging Het
Pkhd1 A T 1: 20,187,397 (GRCm39) M3637K probably benign Het
Pkm T C 9: 59,573,164 (GRCm39) V58A probably damaging Het
Ppp2r1b C A 9: 50,772,985 (GRCm39) T154K probably damaging Het
Rgs18 T A 1: 144,631,818 (GRCm39) D98V possibly damaging Het
Rsph6a G T 7: 18,799,886 (GRCm39) A506S possibly damaging Het
Selenop T A 15: 3,305,183 (GRCm39) V113E probably damaging Het
Slc6a11 G A 6: 114,221,851 (GRCm39) V514M probably benign Het
Srsf9 C T 5: 115,470,696 (GRCm39) S132L probably damaging Het
Tchh G A 3: 93,351,088 (GRCm39) R176H possibly damaging Het
Tcp11 T C 17: 28,286,784 (GRCm39) N405S probably damaging Het
Tle1 A C 4: 72,036,584 (GRCm39) D760E probably damaging Het
Tmem178 A G 17: 81,252,488 (GRCm39) D124G possibly damaging Het
Trabd G A 15: 88,966,929 (GRCm39) E118K probably damaging Het
Ttc39a A G 4: 109,283,499 (GRCm39) D115G probably damaging Het
Uaca T A 9: 60,778,379 (GRCm39) M920K possibly damaging Het
Uba2 A T 7: 33,861,038 (GRCm39) M5K probably damaging Het
Unc5c C T 3: 141,476,863 (GRCm39) P343L probably damaging Het
Wdhd1 T C 14: 47,501,043 (GRCm39) D453G probably damaging Het
Wfdc8 A G 2: 164,445,145 (GRCm39) Y157H probably damaging Het
Zbbx T G 3: 74,985,757 (GRCm39) K432Q probably benign Het
Zeb2 G A 2: 44,907,438 (GRCm39) T169M probably benign Het
Zfp956 A G 6: 47,932,962 (GRCm39) E79G probably damaging Het
Zzef1 G A 11: 72,708,895 (GRCm39) V165I probably benign Het
Other mutations in Pgpep1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02565:Pgpep1 APN 8 71,105,119 (GRCm39) missense probably damaging 1.00
R0365:Pgpep1 UTSW 8 71,105,174 (GRCm39) splice site probably null
R0413:Pgpep1 UTSW 8 71,110,100 (GRCm39) missense probably damaging 1.00
R5547:Pgpep1 UTSW 8 71,105,069 (GRCm39) missense probably benign 0.00
R5773:Pgpep1 UTSW 8 71,105,101 (GRCm39) missense probably damaging 1.00
R5775:Pgpep1 UTSW 8 71,105,101 (GRCm39) missense probably damaging 1.00
R6056:Pgpep1 UTSW 8 71,105,101 (GRCm39) missense probably damaging 1.00
R6057:Pgpep1 UTSW 8 71,105,101 (GRCm39) missense probably damaging 1.00
R6573:Pgpep1 UTSW 8 71,103,265 (GRCm39) missense probably benign 0.00
R7544:Pgpep1 UTSW 8 71,103,168 (GRCm39) missense unknown
R9301:Pgpep1 UTSW 8 71,103,418 (GRCm39) missense probably damaging 1.00
R9502:Pgpep1 UTSW 8 71,103,899 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TGTTCTAGCACTGAAGGAAGGTGGG -3'
(R):5'- AAGGACTTTTCAGAAGCCTGGTGG -3'

Sequencing Primer
(F):5'- cagagagagacagacacagac -3'
(R):5'- CCTGGGACATAGTGACTGTGAC -3'
Posted On 2013-07-11