Incidental Mutation 'IGL01730:Prepl'
ID105453
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 #IGL01730
Quality Score
Status
Chromosome17
Chromosomal Location85063477-85090267 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 85081175 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 167 (Y167H)
Ref Sequence ENSEMBL: ENSMUSP00000130967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072406] [ENSMUST00000171795]
Predicted Effect possibly damaging
Transcript: ENSMUST00000072406
AA Change: Y80H

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000072239
Gene: ENSMUSG00000024127
AA Change: Y80H

DomainStartEndE-ValueType
Pfam:Peptidase_S9_N 15 339 7.4e-28 PFAM
Pfam:Peptidase_S9 399 623 1.3e-35 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000171795
AA Change: Y167H

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000130967
Gene: ENSMUSG00000024127
AA Change: Y167H

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1 A G 5: 35,962,239 E287G probably damaging Het
Bhmt A T 13: 93,625,409 V122E probably damaging Het
Camta1 A G 4: 151,062,845 I585T probably damaging Het
Cfap221 A G 1: 119,934,111 S645P probably benign Het
Derl1 A T 15: 57,892,147 F50Y possibly damaging Het
Dhrs3 T C 4: 144,919,472 S117P probably damaging Het
E2f8 A T 7: 48,877,934 probably benign Het
Fam46b A T 4: 133,486,522 probably null Het
Fbn1 A T 2: 125,312,974 probably benign Het
Fbxo15 A G 18: 84,964,174 I250M probably benign Het
Ghr A T 15: 3,320,584 S371T probably damaging Het
Gm5884 A T 6: 128,645,706 noncoding transcript Het
Grhl2 T C 15: 37,337,774 V496A probably benign Het
Gsap A G 5: 21,290,154 probably benign Het
Irak3 T C 10: 120,178,100 D148G probably benign Het
Itga2 A T 13: 114,854,411 probably benign Het
Kif13b T C 14: 64,750,361 probably null Het
Kif20b A T 19: 34,950,523 K1022* probably null Het
Klhl17 G T 4: 156,231,700 S399* probably null Het
Lcp2 A T 11: 34,050,943 D42V possibly damaging Het
Lin7c G T 2: 109,896,440 G145* probably null Het
Lrba A G 3: 86,741,424 D2493G possibly damaging Het
Mobp A G 9: 120,167,926 D41G probably damaging Het
Mycbp2 G A 14: 103,135,204 Q785* probably null Het
Myl6b T C 10: 128,496,342 Y85C possibly damaging Het
Nup133 G T 8: 123,938,233 H240N probably benign Het
Olfr1448 A C 19: 12,919,562 F249C probably damaging Het
Plk4 T C 3: 40,805,850 S394P probably benign Het
Prkab1 A G 5: 116,021,492 L105P probably damaging Het
Ryr2 T A 13: 11,601,842 I3897L possibly damaging Het
Sema3c A G 5: 17,711,436 S469G probably benign Het
Serpinb3c T A 1: 107,273,184 S168C probably damaging Het
Snapc4 A T 2: 26,363,724 probably null Het
Sorcs2 A T 5: 36,047,809 M528K probably damaging Het
Spink10 T A 18: 62,651,745 probably null Het
Thsd7a C A 6: 12,554,981 Q301H probably benign Het
Tmem135 A T 7: 89,148,044 F335I possibly damaging Het
Tshr A T 12: 91,519,303 D217V possibly damaging Het
Ttyh1 G A 7: 4,125,721 V206M possibly damaging Het
Tusc3 T G 8: 39,164,839 *348G probably null Het
Vmn2r76 G A 7: 86,230,198 T298I probably benign Het
Wdr47 T C 3: 108,611,396 F67L probably damaging Het
Other mutations in Prepl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00708:Prepl APN 17 85078507 missense probably damaging 1.00
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
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 On2014-01-21