Incidental Mutation 'IGL02565:Pgpep1'
ID 298805
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pgpep1
Ensembl Gene ENSMUSG00000056204
Gene Name pyroglutamyl-peptidase I
Synonyms PGP-I, Pcp, 2810003H13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # IGL02565
Quality Score
Status
Chromosome 8
Chromosomal Location 71099085-71113038 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71105119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 47 (I47T)
Ref Sequence ENSEMBL: ENSMUSP00000148119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070173] [ENSMUST00000209768] [ENSMUST00000210193] [ENSMUST00000210307] [ENSMUST00000211715]
AlphaFold Q9ESW8
Predicted Effect probably damaging
Transcript: ENSMUST00000070173
AA Change: I47T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000070778
Gene: ENSMUSG00000056204
AA Change: I47T

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
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: I47T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 126,302,677 (GRCm39) S205R probably benign Het
Adora3 A G 3: 105,815,128 (GRCm39) T293A probably benign Het
App T C 16: 84,822,308 (GRCm39) probably null Het
Asap1 A G 15: 64,001,014 (GRCm39) probably benign Het
Brinp3 T A 1: 146,777,770 (GRCm39) V739E probably damaging Het
Bsn A G 9: 107,990,487 (GRCm39) V1755A probably damaging Het
Clmp A C 9: 40,683,711 (GRCm39) D147A probably damaging Het
Cntn5 A T 9: 10,145,343 (GRCm39) C122* probably null Het
Ctsb T G 14: 63,375,859 (GRCm39) C198G probably null Het
Cyld A T 8: 89,467,919 (GRCm39) R702S probably damaging Het
Cyp4v3 A G 8: 45,773,674 (GRCm39) V165A possibly damaging Het
Dpy19l4 C A 4: 11,309,440 (GRCm39) V59F probably benign Het
Eml1 A T 12: 108,472,779 (GRCm39) T196S probably damaging Het
Fam111a T A 19: 12,564,318 (GRCm39) D22E probably damaging Het
Gigyf2 A G 1: 87,369,858 (GRCm39) H1150R probably damaging Het
Grk5 T G 19: 61,057,809 (GRCm39) F170V probably damaging Het
Heatr5a A C 12: 51,997,882 (GRCm39) V339G possibly damaging Het
Hgd T A 16: 37,435,749 (GRCm39) D153E possibly damaging Het
Ift70b A G 2: 75,768,247 (GRCm39) Y169H probably benign Het
Igdcc3 T A 9: 65,087,470 (GRCm39) L336Q probably damaging Het
Jph2 T C 2: 163,239,265 (GRCm39) E61G probably damaging Het
Ktn1 A T 14: 47,910,391 (GRCm39) probably benign Het
Lrch3 T A 16: 32,826,084 (GRCm39) D634E probably benign Het
Marchf6 T C 15: 31,490,712 (GRCm39) probably benign Het
Misp T A 10: 79,662,177 (GRCm39) I198N probably benign Het
Mmp14 C T 14: 54,678,014 (GRCm39) P545L probably benign Het
Mon1b G T 8: 114,365,455 (GRCm39) R261L possibly damaging Het
Muc5b T C 7: 141,411,604 (GRCm39) S1517P unknown Het
Nae1 A T 8: 105,237,841 (GRCm39) N518K probably damaging Het
Pglyrp4 A T 3: 90,642,794 (GRCm39) D225V probably benign Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Pitpnc1 G A 11: 107,187,059 (GRCm39) T88I probably damaging Het
Poldip2 T C 11: 78,408,678 (GRCm39) I181T probably damaging Het
Ppfia2 T C 10: 106,699,247 (GRCm39) probably null Het
Rasal1 A G 5: 120,814,845 (GRCm39) probably benign Het
Rbms1 A G 2: 60,590,123 (GRCm39) Y305H probably benign Het
Rnf123 A C 9: 107,929,411 (GRCm39) probably null Het
Sec14l3 G A 11: 4,026,237 (GRCm39) probably benign Het
Slc2a10 A C 2: 165,357,000 (GRCm39) D220A probably damaging Het
Slc38a8 T C 8: 120,212,300 (GRCm39) T348A probably damaging Het
Slc4a5 T C 6: 83,276,487 (GRCm39) V1104A probably benign Het
Snrpe T C 1: 133,536,704 (GRCm39) probably benign Het
Th C A 7: 142,453,647 (GRCm39) V18F probably damaging Het
Ubqln5 G A 7: 103,778,279 (GRCm39) Q182* probably null Het
Unc5c T C 3: 141,509,680 (GRCm39) V646A probably damaging Het
Wasf1 A G 10: 40,812,128 (GRCm39) N306D possibly damaging Het
Other mutations in Pgpep1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R0603:Pgpep1 UTSW 8 71,103,283 (GRCm39) missense probably benign 0.03
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
Posted On 2015-04-16