Incidental Mutation 'IGL02565:Pgpep1'
ID298805
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pgpep1
Ensembl Gene ENSMUSG00000056204
Gene Namepyroglutamyl-peptidase I
SynonymsPcp, 2810003H13Rik, PGP-I
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.104) question?
Stock #IGL02565
Quality Score
Status
Chromosome8
Chromosomal Location70646435-70660388 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 70652469 bp
ZygosityHeterozygous
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]
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: 127,395,054 S205R probably benign Het
Adora3 A G 3: 105,907,812 T293A probably benign Het
App T C 16: 85,025,420 probably null Het
Asap1 A G 15: 64,129,165 probably benign Het
Brinp3 T A 1: 146,902,032 V739E probably damaging Het
Bsn A G 9: 108,113,288 V1755A probably damaging Het
Clmp A C 9: 40,772,415 D147A probably damaging Het
Cntn5 A T 9: 10,145,338 C122* probably null Het
Ctsb T G 14: 63,138,410 C198G probably null Het
Cyld A T 8: 88,741,291 R702S probably damaging Het
Cyp4v3 A G 8: 45,320,637 V165A possibly damaging Het
Dpy19l4 C A 4: 11,309,440 V59F probably benign Het
Eml1 A T 12: 108,506,520 T196S probably damaging Het
Fam111a T A 19: 12,586,954 D22E probably damaging Het
Gigyf2 A G 1: 87,442,136 H1150R probably damaging Het
Grk5 T G 19: 61,069,371 F170V probably damaging Het
Heatr5a A C 12: 51,951,099 V339G possibly damaging Het
Hgd T A 16: 37,615,387 D153E possibly damaging Het
Igdcc3 T A 9: 65,180,188 L336Q probably damaging Het
Jph2 T C 2: 163,397,345 E61G probably damaging Het
Ktn1 A T 14: 47,672,934 probably benign Het
Lrch3 T A 16: 33,005,714 D634E probably benign Het
March6 T C 15: 31,490,566 probably benign Het
Misp T A 10: 79,826,343 I198N probably benign Het
Mmp14 C T 14: 54,440,557 P545L probably benign Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Muc5b T C 7: 141,857,867 S1517P unknown Het
Nae1 A T 8: 104,511,209 N518K probably damaging Het
Pglyrp4 A T 3: 90,735,487 D225V probably benign Het
Pip5k1c C A 10: 81,317,321 probably null Het
Pitpnc1 G A 11: 107,296,233 T88I probably damaging Het
Poldip2 T C 11: 78,517,852 I181T probably damaging Het
Ppfia2 T C 10: 106,863,386 probably null Het
Rasal1 A G 5: 120,676,780 probably benign Het
Rbms1 A G 2: 60,759,779 Y305H probably benign Het
Rnf123 A C 9: 108,052,212 probably null Het
Sec14l3 G A 11: 4,076,237 probably benign Het
Slc2a10 A C 2: 165,515,080 D220A probably damaging Het
Slc38a8 T C 8: 119,485,561 T348A probably damaging Het
Slc4a5 T C 6: 83,299,505 V1104A probably benign Het
Snrpe T C 1: 133,608,966 probably benign Het
Th C A 7: 142,899,910 V18F probably damaging Het
Ttc30b A G 2: 75,937,903 Y169H probably benign Het
Ubqln5 G A 7: 104,129,072 Q182* probably null Het
Unc5c T C 3: 141,803,919 V646A probably damaging Het
Wasf1 A G 10: 40,936,132 N306D possibly damaging Het
Other mutations in Pgpep1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5775: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
Posted On2015-04-16