Incidental Mutation 'R4895:Prepl'
ID 434676
Institutional Source Beutler Lab
Gene Symbol Prepl
Ensembl Gene ENSMUSG00000024127
Gene Name prolyl endopeptidase-like
Synonyms 9530014L06Rik, D030028O16Rik, 2810457N15Rik
MMRRC Submission 042499-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R4895 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 85370898-85397669 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85388494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 203 (F203S)
Ref Sequence ENSEMBL: ENSMUSP00000130967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072406] [ENSMUST00000171795]
AlphaFold Q8C167
Predicted Effect probably damaging
Transcript: ENSMUST00000072406
AA Change: F116S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000072239
Gene: ENSMUSG00000024127
AA Change: F116S

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: F203S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000130967
Gene: ENSMUSG00000024127
AA Change: F203S

DomainStartEndE-ValueType
Pfam:Peptidase_S9_N 86 428 5.2e-30 PFAM
Pfam:Peptidase_S9 486 710 2e-35 PFAM
Meta Mutation Damage Score 0.5680 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 98% (84/86)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519P11Rik C A 2: 154,454,990 (GRCm39) probably benign Het
Abat G A 16: 8,433,826 (GRCm39) A392T probably benign Het
Abca14 G A 7: 119,846,572 (GRCm39) probably null Het
Abcc6 A T 7: 45,630,414 (GRCm39) L1282Q possibly damaging Het
Acss2 A G 2: 155,392,401 (GRCm39) probably benign Het
Adgrf1 G T 17: 43,621,511 (GRCm39) V583L probably benign Het
Aftph T C 11: 20,646,801 (GRCm39) D825G probably damaging Het
Ahnak T C 19: 8,994,805 (GRCm39) V5363A probably benign Het
Apba3 G A 10: 81,107,117 (GRCm39) probably null Het
Asb13 T C 13: 3,693,589 (GRCm39) Y116H probably damaging Het
Asb4 C A 6: 5,398,266 (GRCm39) T77K probably damaging Het
Atp8b4 A T 2: 126,256,289 (GRCm39) H223Q probably benign Het
Best1 A G 19: 9,970,135 (GRCm39) L159P probably benign Het
Cacna1h A T 17: 25,608,396 (GRCm39) M731K probably damaging Het
Catspere1 T A 1: 177,687,427 (GRCm39) noncoding transcript Het
Cenpv A T 11: 62,418,346 (GRCm39) Y202* probably null Het
Cep57 A T 9: 13,727,449 (GRCm39) probably benign Het
Cfap100 T A 6: 90,383,084 (GRCm39) D363V possibly damaging Het
Cluh A G 11: 74,558,231 (GRCm39) Y1126C probably damaging Het
Cyp2j5 A G 4: 96,551,347 (GRCm39) probably null Het
Dnajc11 T C 4: 152,064,390 (GRCm39) F514L probably damaging Het
Efcab3 C T 11: 104,611,112 (GRCm39) T318I probably benign Het
Efcab3 T A 11: 105,008,227 (GRCm39) probably benign Het
Efcab3 A G 11: 104,640,496 (GRCm39) D1026G probably damaging Het
Eif2b4 T G 5: 31,350,298 (GRCm39) Q8P probably benign Het
Epha6 A T 16: 59,486,918 (GRCm39) V1043E probably benign Het
Gm11562 G T 11: 99,511,141 (GRCm39) Q20K unknown Het
Gm14415 A T 2: 176,796,114 (GRCm39) noncoding transcript Het
Gm5431 A G 11: 48,779,855 (GRCm39) S634P probably damaging Het
Gpld1 C A 13: 25,163,711 (GRCm39) N501K probably damaging Het
Gsn C T 2: 35,192,590 (GRCm39) R513C probably damaging Het
Gulp1 T C 1: 44,827,757 (GRCm39) F300L probably benign Het
H2aj T C 6: 136,785,660 (GRCm39) V108A possibly damaging Het
Haus3 T C 5: 34,325,414 (GRCm39) R82G probably benign Het
Herc2 G A 7: 55,872,734 (GRCm39) R4424H probably damaging Het
Hmcn1 T A 1: 150,553,130 (GRCm39) Q2520L probably benign Het
Hs2st1 T C 3: 144,171,014 (GRCm39) I53V probably benign Het
Inpp5e C T 2: 26,287,924 (GRCm39) R624Q probably damaging Het
Ints8 G T 4: 11,230,367 (GRCm39) C491* probably null Het
Itpkb C A 1: 180,241,460 (GRCm39) A710D probably damaging Het
Kcnk4 A C 19: 6,905,784 (GRCm39) probably null Het
Kmt2d T C 15: 98,742,368 (GRCm39) probably benign Het
Lamb3 C T 1: 193,014,622 (GRCm39) R594* probably null Het
Map3k20 A G 2: 72,232,700 (GRCm39) probably benign Het
Maz A T 7: 126,624,472 (GRCm39) probably null Het
Mtr T C 13: 12,231,752 (GRCm39) T651A probably benign Het
Nbeal1 A G 1: 60,332,062 (GRCm39) E2252G probably damaging Het
Ndufa10 A G 1: 92,397,618 (GRCm39) Y61H probably damaging Het
Npat T A 9: 53,481,789 (GRCm39) L1166M probably damaging Het
Or12e1 A C 2: 87,022,192 (GRCm39) I54L probably benign Het
Or4c108 A T 2: 88,804,055 (GRCm39) F60Y probably benign Het
Or5ak20 A T 2: 85,183,341 (GRCm39) *310K probably null Het
Or5b97 C T 19: 12,878,251 (GRCm39) V298M probably damaging Het
Or5h22 C T 16: 58,895,020 (GRCm39) C141Y probably benign Het
Or5p66 A C 7: 107,885,802 (GRCm39) I177S probably damaging Het
Pcdhb3 T C 18: 37,434,759 (GRCm39) F242L probably damaging Het
Phip A G 9: 82,841,648 (GRCm39) V57A probably benign Het
Plekha7 A T 7: 115,788,626 (GRCm39) probably null Het
Pot1a A C 6: 25,753,205 (GRCm39) F444V probably damaging Het
Ppm1a C T 12: 72,831,126 (GRCm39) P217L probably damaging Het
Prl8a1 T C 13: 27,759,513 (GRCm39) I175V probably benign Het
Ranbp6 A T 19: 29,787,175 (GRCm39) I1059N possibly damaging Het
Rhag A G 17: 41,122,242 (GRCm39) Q59R probably benign Het
Sema4c A C 1: 36,592,651 (GRCm39) probably null Het
Sf3b3 T C 8: 111,542,656 (GRCm39) D902G probably benign Het
Tbc1d23 A G 16: 57,019,220 (GRCm39) probably null Het
Tbrg1 A T 9: 37,566,375 (GRCm39) I54N probably damaging Het
Tchh A T 3: 93,352,993 (GRCm39) E811V unknown Het
Tenm3 T A 8: 48,754,006 (GRCm39) D799V probably damaging Het
Tlr5 T C 1: 182,801,764 (GRCm39) L342P probably damaging Het
Tppp C T 13: 74,178,996 (GRCm39) R146* probably null Het
Trpm4 A T 7: 44,967,482 (GRCm39) M574K probably damaging Het
Uggt1 A T 1: 36,195,345 (GRCm39) F1288Y probably damaging Het
Uggt2 T A 14: 119,256,298 (GRCm39) K1124N probably damaging Het
Usf3 A C 16: 44,041,459 (GRCm39) S1980R possibly damaging Het
Vav2 T C 2: 27,208,973 (GRCm39) D100G probably damaging Het
Vmn2r3 G T 3: 64,167,182 (GRCm39) H650N probably benign Het
Vmn2r59 T A 7: 41,695,218 (GRCm39) Y398F probably damaging Het
Zfp619 A G 7: 39,187,396 (GRCm39) D1142G possibly damaging Het
Zfp933 G A 4: 147,910,892 (GRCm39) R235* probably null Het
Other mutations in Prepl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00708:Prepl APN 17 85,385,935 (GRCm39) missense probably damaging 1.00
IGL01375:Prepl APN 17 85,379,419 (GRCm39) missense possibly damaging 0.92
IGL01618:Prepl APN 17 85,373,709 (GRCm39) missense probably damaging 1.00
IGL01633:Prepl APN 17 85,379,444 (GRCm39) missense probably benign 0.03
IGL01730:Prepl APN 17 85,388,603 (GRCm39) missense possibly damaging 0.82
IGL02728:Prepl APN 17 85,378,010 (GRCm39) missense probably damaging 1.00
R0126:Prepl UTSW 17 85,390,670 (GRCm39) missense probably benign 0.19
R0243:Prepl UTSW 17 85,372,466 (GRCm39) splice site probably null
R1071:Prepl UTSW 17 85,377,940 (GRCm39) missense probably damaging 1.00
R1437:Prepl UTSW 17 85,395,785 (GRCm39) missense probably damaging 1.00
R1638:Prepl UTSW 17 85,379,509 (GRCm39) missense probably benign 0.04
R1892:Prepl UTSW 17 85,395,878 (GRCm39) missense possibly damaging 0.82
R1967:Prepl UTSW 17 85,395,979 (GRCm39) start codon destroyed probably null 0.99
R4196:Prepl UTSW 17 85,388,582 (GRCm39) missense probably benign
R4630:Prepl UTSW 17 85,390,659 (GRCm39) missense probably benign 0.00
R4632:Prepl UTSW 17 85,390,659 (GRCm39) missense probably benign 0.00
R4932:Prepl UTSW 17 85,385,932 (GRCm39) missense possibly damaging 0.66
R4969:Prepl UTSW 17 85,395,902 (GRCm39) missense probably benign 0.00
R5954:Prepl UTSW 17 85,372,077 (GRCm39) missense probably benign 0.04
R6259:Prepl UTSW 17 85,377,859 (GRCm39) missense probably damaging 1.00
R6273:Prepl UTSW 17 85,390,696 (GRCm39) missense probably benign 0.00
R7176:Prepl UTSW 17 85,376,454 (GRCm39) missense probably benign 0.14
R7273:Prepl UTSW 17 85,389,420 (GRCm39) missense probably benign 0.10
R7291:Prepl UTSW 17 85,388,668 (GRCm39) missense probably benign 0.26
R8229:Prepl UTSW 17 85,388,689 (GRCm39) missense probably benign 0.00
R8940:Prepl UTSW 17 85,376,354 (GRCm39) missense probably damaging 0.98
R9017:Prepl UTSW 17 85,376,366 (GRCm39) missense possibly damaging 0.61
R9158:Prepl UTSW 17 85,383,379 (GRCm39) missense possibly damaging 0.82
R9608:Prepl UTSW 17 85,376,321 (GRCm39) missense probably benign 0.02
Z1177:Prepl UTSW 17 85,388,511 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CAGTGTGTCTATCTCCATGTGG -3'
(R):5'- CTGGAAGAACTTAAATTGGATCAGC -3'

Sequencing Primer
(F):5'- TGAAAACTGCCCATGGGTTC -3'
(R):5'- CAGCCTTTCATTGATTGCATCAGAG -3'
Posted On 2016-10-24