Incidental Mutation 'IGL00708:Prepl'
ID13156
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prepl
Ensembl Gene ENSMUSG00000024127
Gene Nameprolyl endopeptidase-like
Synonyms2810457N15Rik, 9530014L06Rik, D030028O16Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.247) question?
Stock #IGL00708
Quality Score
Status
Chromosome17
Chromosomal Location85063477-85090267 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 85078507 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 243 (Y243C)
Ref Sequence ENSEMBL: ENSMUSP00000130967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072406] [ENSMUST00000171795]
Predicted Effect probably damaging
Transcript: ENSMUST00000072406
AA Change: Y156C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072239
Gene: ENSMUSG00000024127
AA Change: Y156C

DomainStartEndE-ValueType
Pfam:Peptidase_S9_N 15 339 7.4e-28 PFAM
Pfam:Peptidase_S9 399 623 1.3e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171795
AA Change: Y243C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130967
Gene: ENSMUSG00000024127
AA Change: Y243C

DomainStartEndE-ValueType
Pfam:Peptidase_S9_N 86 428 5.2e-30 PFAM
Pfam:Peptidase_S9 486 710 2e-35 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.[provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired growth and neonatal hypotonia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 A G 7: 66,968,902 E388G probably damaging Het
Arid4a T C 12: 71,072,728 S374P probably benign Het
Ccdc186 A T 19: 56,813,447 S79R probably benign Het
Cela3b C A 4: 137,421,969 L241F probably benign Het
Dsg4 T A 18: 20,461,326 V504D probably benign Het
Fam160a2 C T 7: 105,388,260 R372Q probably damaging Het
Meis2 C T 2: 115,864,244 D473N probably benign Het
Mri1 A T 8: 84,251,648 I338N probably damaging Het
Mroh8 A G 2: 157,220,170 S868P probably damaging Het
Mtus1 G A 8: 41,084,349 T110I probably damaging Het
Mug2 A G 6: 122,047,487 E506G possibly damaging Het
Napsa A G 7: 44,581,421 T71A probably benign Het
Prkdc A G 16: 15,779,426 I2817V probably damaging Het
Rbm26 C T 14: 105,159,960 V69I unknown Het
Tcerg1 T A 18: 42,571,125 N949K probably benign Het
Tgfbr1 C T 4: 47,383,992 T45I probably benign Het
Trim37 T A 11: 87,186,393 D516E probably damaging Het
Wdr7 C T 18: 63,778,033 T832M probably benign Het
Zfp280d T C 9: 72,312,135 V198A probably benign Het
Other mutations in Prepl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01375:Prepl APN 17 85071991 missense possibly damaging 0.92
IGL01618:Prepl APN 17 85066281 missense probably damaging 1.00
IGL01633:Prepl APN 17 85072016 missense probably benign 0.03
IGL01730:Prepl APN 17 85081175 missense possibly damaging 0.82
IGL02728:Prepl APN 17 85070582 missense probably damaging 1.00
R0126:Prepl UTSW 17 85083242 missense probably benign 0.19
R0243:Prepl UTSW 17 85065038 unclassified probably null
R1071:Prepl UTSW 17 85070512 missense probably damaging 1.00
R1437:Prepl UTSW 17 85088357 missense probably damaging 1.00
R1638:Prepl UTSW 17 85072081 missense probably benign 0.04
R1892:Prepl UTSW 17 85088450 missense possibly damaging 0.82
R1967:Prepl UTSW 17 85088551 start codon destroyed probably null 0.99
R4196:Prepl UTSW 17 85081154 missense probably benign
R4630:Prepl UTSW 17 85083231 missense probably benign 0.00
R4632:Prepl UTSW 17 85083231 missense probably benign 0.00
R4895:Prepl UTSW 17 85081066 missense probably damaging 1.00
R4932:Prepl UTSW 17 85078504 missense possibly damaging 0.66
R4969:Prepl UTSW 17 85088474 missense probably benign 0.00
R5954:Prepl UTSW 17 85064649 missense probably benign 0.04
R6259:Prepl UTSW 17 85070431 missense probably damaging 1.00
R6273:Prepl UTSW 17 85083268 missense probably benign 0.00
R7176:Prepl UTSW 17 85069026 missense probably benign 0.14
R7273:Prepl UTSW 17 85081992 missense probably benign 0.10
R7291:Prepl UTSW 17 85081240 missense probably benign 0.26
Posted On2012-12-06