Incidental Mutation 'IGL01522:Pgpep1l'
ID 89448
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pgpep1l
Ensembl Gene ENSMUSG00000030553
Gene Name pyroglutamyl-peptidase I-like
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL01522
Quality Score
Chromosome 7
Chromosomal Location 68236610-68264233 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68237708 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 48 (M48T)
Ref Sequence ENSEMBL: ENSMUSP00000032770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005671] [ENSMUST00000032770] [ENSMUST00000207874]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000005671
SMART Domains Protein: ENSMUSP00000005671
Gene: ENSMUSG00000005533

Pfam:Recep_L_domain 51 161 1.6e-29 PFAM
FU 227 270 2.98e-12 SMART
Pfam:Recep_L_domain 353 467 3.8e-32 PFAM
FN3 490 593 4.67e-2 SMART
FN3 612 815 1.95e-4 SMART
FN3 833 915 7.4e-5 SMART
low complexity region 937 954 N/A INTRINSIC
TyrKc 1000 1268 8.51e-141 SMART
low complexity region 1285 1303 N/A INTRINSIC
low complexity region 1306 1319 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000032770
AA Change: M48T

PolyPhen 2 Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000032770
Gene: ENSMUSG00000030553
AA Change: M48T

Pfam:Peptidase_C15 5 111 8.5e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207874
AA Change: M124T

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A G 11: 23,582,865 (GRCm38) probably null Het
Adamts12 T C 15: 11,065,159 (GRCm38) probably null Het
Adamts3 T C 5: 89,702,943 (GRCm38) N579S probably benign Het
Akr1c19 A G 13: 4,239,099 (GRCm38) probably benign Het
Ankrd39 T A 1: 36,542,061 (GRCm38) H69L probably damaging Het
Apcdd1 T A 18: 62,952,115 (GRCm38) M461K possibly damaging Het
Bpifa3 G A 2: 154,137,582 (GRCm38) C209Y probably damaging Het
Cep131 T C 11: 120,067,163 (GRCm38) E779G probably benign Het
Cep85 G T 4: 134,152,256 (GRCm38) Q394K probably damaging Het
Cep85 T C 4: 134,152,255 (GRCm38) Q394R probably damaging Het
Clcn6 T C 4: 148,017,535 (GRCm38) Y364C probably benign Het
Fetub G A 16: 22,929,641 (GRCm38) M1I probably null Het
Greb1 T C 12: 16,701,201 (GRCm38) I1003V probably damaging Het
Hsf3 A G X: 96,320,594 (GRCm38) probably benign Het
Jcad A G 18: 4,673,312 (GRCm38) N358S probably damaging Het
Kndc1 T C 7: 139,913,972 (GRCm38) probably benign Het
Lama1 A T 17: 67,752,774 (GRCm38) probably benign Het
Mark2 A G 19: 7,281,238 (GRCm38) V50A probably benign Het
Mmp7 T C 9: 7,692,228 (GRCm38) W35R probably damaging Het
Ndc80 A G 17: 71,499,325 (GRCm38) V578A probably benign Het
Nfyc T C 4: 120,781,524 (GRCm38) E42G probably damaging Het
Olfr1164 T C 2: 88,093,016 (GRCm38) K307E possibly damaging Het
Olfr1504 A T 19: 13,887,358 (GRCm38) L284* probably null Het
Olfr344 A G 2: 36,569,221 (GRCm38) T208A probably benign Het
Olfr547 A T 7: 102,535,184 (GRCm38) I146F probably damaging Het
Olfr935 A T 9: 38,995,100 (GRCm38) C112S probably benign Het
Pcdha11 T C 18: 37,185,008 (GRCm38) F925L probably damaging Het
Pdcd1 T G 1: 94,040,846 (GRCm38) R154S probably benign Het
Pepd T A 7: 34,924,440 (GRCm38) D87E probably benign Het
Pfn4 A G 12: 4,770,240 (GRCm38) T30A probably benign Het
Pla2g15 A G 8: 106,163,116 (GRCm38) N340S probably benign Het
Plcb4 A G 2: 136,002,627 (GRCm38) D155G probably damaging Het
Plg G A 17: 12,404,069 (GRCm38) G499S probably damaging Het
Plin3 C T 17: 56,280,799 (GRCm38) W305* probably null Het
Polq C A 16: 37,027,903 (GRCm38) L291I probably damaging Het
Sdf2l1 T A 16: 17,132,150 (GRCm38) H54L probably damaging Het
Slc38a2 C T 15: 96,693,055 (GRCm38) D276N possibly damaging Het
Syk A G 13: 52,643,061 (GRCm38) T576A probably benign Het
Tas2r119 G A 15: 32,178,193 (GRCm38) V302I probably benign Het
Uso1 T C 5: 92,181,419 (GRCm38) F389L probably damaging Het
Wwc2 T A 8: 47,868,633 (GRCm38) Y482F unknown Het
Other mutations in Pgpep1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02735:Pgpep1l APN 7 68,236,973 (GRCm38) missense probably benign 0.00
R1742:Pgpep1l UTSW 7 68,237,054 (GRCm38) missense probably damaging 1.00
R4232:Pgpep1l UTSW 7 68,237,079 (GRCm38) missense probably benign 0.04
R6482:Pgpep1l UTSW 7 68,239,067 (GRCm38) splice site probably null
R7343:Pgpep1l UTSW 7 68,237,721 (GRCm38) missense probably damaging 1.00
R7883:Pgpep1l UTSW 7 68,239,149 (GRCm38) nonsense probably null
R8084:Pgpep1l UTSW 7 68,237,771 (GRCm38) missense probably benign 0.41
R9005:Pgpep1l UTSW 7 68,237,658 (GRCm38) missense probably damaging 1.00
X0012:Pgpep1l UTSW 7 68,237,646 (GRCm38) missense probably damaging 1.00
Posted On 2013-12-03