Incidental Mutation 'R5775:Pgpep1'
Institutional Source Beutler Lab
Gene Symbol Pgpep1
Ensembl Gene ENSMUSG00000056204
Gene Namepyroglutamyl-peptidase I
SynonymsPcp, 2810003H13Rik, PGP-I
MMRRC Submission 043374-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.109) question?
Stock #R5775 (G1)
Quality Score121
Status Validated
Chromosomal Location70646435-70660388 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 70652451 bp
Amino Acid Change Threonine to Methionine at position 53 (T53M)
Ref Sequence ENSEMBL: ENSMUSP00000148119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070173] [ENSMUST00000209768] [ENSMUST00000210193] [ENSMUST00000210307] [ENSMUST00000211715]
Predicted Effect probably damaging
Transcript: ENSMUST00000070173
AA Change: T53M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000070778
Gene: ENSMUSG00000056204
AA Change: T53M

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210459
Predicted Effect probably benign
Transcript: ENSMUST00000210786
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211526
Predicted Effect probably damaging
Transcript: ENSMUST00000211715
AA Change: T53M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 97% (59/61)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a A G 12: 113,546,266 D753G possibly damaging Het
AF067061 T A 13: 120,263,939 C46* probably null Het
Arpc2 T A 1: 74,255,949 probably null Het
Atxn2 C T 5: 121,813,449 T619M probably damaging Het
Cacna1s T C 1: 136,108,122 Y1120H probably damaging Het
Calm5 T C 13: 3,854,435 L20S probably damaging Het
Carmil1 T C 13: 24,276,537 I20V probably benign Het
Cd177 T C 7: 24,752,268 E441G probably damaging Het
Cd63 T A 10: 128,910,430 C9S probably damaging Het
Cep250 A C 2: 155,969,374 D380A possibly damaging Het
Col5a3 G T 9: 20,801,072 P509Q unknown Het
Cyp11b2 A G 15: 74,853,478 V264A probably benign Het
Dennd6a T A 14: 26,619,373 L214* probably null Het
Dna2 A G 10: 62,949,242 N46S possibly damaging Het
Elovl1 G A 4: 118,430,897 V77I probably benign Het
Eml1 A T 12: 108,506,554 Y207F probably damaging Het
Epha6 C T 16: 59,818,994 R839Q possibly damaging Het
Erlec1 A T 11: 30,943,848 S105T probably benign Het
Esp3 T A 17: 40,633,577 S37T possibly damaging Het
Foxh1 G A 15: 76,669,849 A8V probably benign Het
Fut1 A C 7: 45,619,462 D280A probably damaging Het
Gm13998 G T 2: 119,878,411 noncoding transcript Het
Gm7247 C T 14: 51,364,348 S26F probably benign Het
H2afz T C 3: 137,865,619 Y61H probably damaging Het
Kcns1 T C 2: 164,164,766 I426V probably damaging Het
Kdm4c T G 4: 74,359,431 V774G probably damaging Het
Mrc2 G A 11: 105,337,813 V673I probably benign Het
Mtnr1b G A 9: 15,862,872 A297V possibly damaging Het
Olfr1173 A T 2: 88,274,701 M116K probably damaging Het
Olfr889 A T 9: 38,116,127 E110D probably damaging Het
Osbpl5 A T 7: 143,704,529 V346D probably benign Het
Pdzrn4 A T 15: 92,757,681 E485V probably damaging Het
Pigo T C 4: 43,023,475 D233G probably damaging Het
Pmm1 A T 15: 81,951,955 I152N probably benign Het
Pot1a A T 6: 25,757,298 probably null Het
Ppp1r12b G T 1: 134,876,042 L460I probably benign Het
Prrc2a T C 17: 35,158,487 D565G unknown Het
Psd C A 19: 46,314,772 E724* probably null Het
Rasa2 C T 9: 96,577,468 probably null Het
Rsbn1 A T 3: 103,962,572 Q783L possibly damaging Het
Ryr2 T C 13: 11,769,962 Y1035C probably damaging Het
Sec24d C T 3: 123,290,460 A96V probably benign Het
Sec61a2 A T 2: 5,882,774 probably null Het
Sec62 A G 3: 30,793,287 probably benign Het
Tmem132b T A 5: 125,638,330 probably null Het
Tnip3 A G 6: 65,614,757 S247G probably benign Het
Traf3 A G 12: 111,252,728 K263R possibly damaging Het
Tubgcp3 A T 8: 12,625,056 I713N probably damaging Het
Unc5c A G 3: 141,828,520 E860G probably damaging Het
Usp44 A G 10: 93,845,978 S97G possibly damaging Het
Vmn2r-ps159 G T 4: 156,334,397 noncoding transcript Het
Vps37a A G 8: 40,529,119 H109R probably damaging Het
Wfikkn2 G T 11: 94,238,288 D342E probably benign Het
Zfp354b A T 11: 50,922,820 F426Y probably benign Het
Zfp462 C A 4: 55,010,590 T852N probably damaging Het
Zfp987 T G 4: 146,124,935 S312R probably benign Het
Other mutations in Pgpep1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02565:Pgpep1 APN 8 70652469 missense probably damaging 1.00
R0365:Pgpep1 UTSW 8 70652524 splice site probably null
R0413:Pgpep1 UTSW 8 70657450 missense probably damaging 1.00
R0603:Pgpep1 UTSW 8 70650633 missense probably benign 0.03
R5547:Pgpep1 UTSW 8 70652419 missense probably benign 0.00
R5773:Pgpep1 UTSW 8 70652451 missense probably damaging 1.00
R6056:Pgpep1 UTSW 8 70652451 missense probably damaging 1.00
R6057:Pgpep1 UTSW 8 70652451 missense probably damaging 1.00
R6573:Pgpep1 UTSW 8 70650615 missense probably benign 0.00
R7544:Pgpep1 UTSW 8 70650518 missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On2016-12-15