Incidental Mutation 'R6696:Prep'
ID 528592
Institutional Source Beutler Lab
Gene Symbol Prep
Ensembl Gene ENSMUSG00000019849
Gene Name prolyl endopeptidase
Synonyms Pop, D10Wsu136e, prolyl oligopeptidase
MMRRC Submission 044814-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6696 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 44943312-45038847 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45029174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 525 (N525Y)
Ref Sequence ENSEMBL: ENSMUSP00000097444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099858]
AlphaFold Q9QUR6
Predicted Effect probably damaging
Transcript: ENSMUST00000099858
AA Change: N525Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097444
Gene: ENSMUSG00000019849
AA Change: N525Y

DomainStartEndE-ValueType
Pfam:Peptidase_S9_N 7 423 1.2e-170 PFAM
Pfam:Peptidase_S9 482 707 1.7e-72 PFAM
Meta Mutation Damage Score 0.9719 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytosolic prolyl endopeptidase that cleaves peptide bonds on the C-terminal side of prolyl residues within peptides that are up to approximately 30 amino acids long. Prolyl endopeptidases have been reported to be involved in the maturation and degradation of peptide hormones and neuropeptides. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit sex-dependent resistance to diet-induced obesity and adiposity. Mice heterozygous for a gene trap allele exhibit maternal inheritance influenced increase in body weight, organ weight, and adiposity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap25 G T 6: 87,442,633 (GRCm39) H350Q probably damaging Het
Arhgap25 C A 6: 87,443,545 (GRCm39) V305F probably damaging Het
Atg3 A T 16: 44,995,644 (GRCm39) I126F possibly damaging Het
Best2 A T 8: 85,737,873 (GRCm39) L174* probably null Het
Ccdc134 T A 15: 82,015,722 (GRCm39) D67E probably damaging Het
Coasy G T 11: 100,973,927 (GRCm39) R31L possibly damaging Het
Col5a3 C T 9: 20,690,329 (GRCm39) G1162R probably damaging Het
Dhrs7l C T 12: 72,666,255 (GRCm39) A139T possibly damaging Het
Eipr1 C A 12: 28,909,357 (GRCm39) T208N probably benign Het
Epha2 A G 4: 141,048,850 (GRCm39) T606A probably benign Het
Fan1 A T 7: 63,999,826 (GRCm39) I853N probably damaging Het
Fbxw18 A C 9: 109,517,832 (GRCm39) S385A probably benign Het
Galnt11 T C 5: 25,460,112 (GRCm39) V307A probably benign Het
Gata3 A T 2: 9,879,303 (GRCm39) Y224* probably null Het
Gm527 T C 12: 64,967,866 (GRCm39) M96T possibly damaging Het
Hivep2 T C 10: 14,009,503 (GRCm39) F1720S probably benign Het
Hltf T G 3: 20,119,470 (GRCm39) probably null Het
Imp4 T C 1: 34,483,327 (GRCm39) V247A probably benign Het
Iqca1 G A 1: 90,057,922 (GRCm39) T259I probably benign Het
Klra6 A G 6: 129,993,696 (GRCm39) F192L probably benign Het
Lnp1 T C 16: 56,748,149 (GRCm39) K48E possibly damaging Het
Lrp4 A G 2: 91,327,690 (GRCm39) D1513G probably benign Het
Lrrc25 G A 8: 71,071,015 (GRCm39) probably null Het
Macf1 T A 4: 123,403,596 (GRCm39) Y590F probably damaging Het
Mms19 C A 19: 41,942,452 (GRCm39) V359L probably benign Het
Mns1 G A 9: 72,360,044 (GRCm39) R398Q probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nme3 G T 17: 25,116,268 (GRCm39) C158F possibly damaging Het
Pam T A 1: 97,813,452 (GRCm39) H326L possibly damaging Het
Plcxd1 A G 5: 110,249,751 (GRCm39) N151S possibly damaging Het
Rab11fip5 T C 6: 85,318,928 (GRCm39) I654V possibly damaging Het
Sbf2 T A 7: 110,159,505 (GRCm39) Q35L probably benign Het
Shcbp1 A G 8: 4,789,262 (GRCm39) F519S probably damaging Het
Slc18a3 T C 14: 32,186,270 (GRCm39) I38V possibly damaging Het
Slc5a2 A T 7: 127,869,215 (GRCm39) I332F probably damaging Het
Slc7a7 C T 14: 54,615,218 (GRCm39) probably null Het
Srbd1 C T 17: 86,446,619 (GRCm39) V47I possibly damaging Het
Synj1 C G 16: 90,757,340 (GRCm39) V877L probably damaging Het
Tgfbr3 C T 5: 107,284,796 (GRCm39) V618I probably benign Het
Tmem191 C T 16: 17,100,886 (GRCm39) probably null Het
Tmem67 C A 4: 12,061,754 (GRCm39) probably null Het
Tmem94 C T 11: 115,682,814 (GRCm39) A617V probably damaging Het
Vmn1r71 T A 7: 10,482,401 (GRCm39) I96F probably damaging Het
Vmn2r7 A T 3: 64,614,495 (GRCm39) F440I probably benign Het
Wdr7 A G 18: 63,872,401 (GRCm39) Q445R probably benign Het
Wnk1 A G 6: 119,925,243 (GRCm39) L1407P probably damaging Het
Other mutations in Prep
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00654:Prep APN 10 44,991,269 (GRCm39) missense probably damaging 1.00
IGL01412:Prep APN 10 45,029,208 (GRCm39) missense probably damaging 1.00
IGL01577:Prep APN 10 44,948,144 (GRCm39) splice site probably benign
IGL02751:Prep APN 10 44,991,282 (GRCm39) missense probably damaging 1.00
IGL02754:Prep APN 10 44,943,428 (GRCm39) start codon destroyed probably null 0.23
IGL02875:Prep APN 10 45,034,529 (GRCm39) missense probably damaging 1.00
IGL02957:Prep APN 10 45,002,126 (GRCm39) missense probably benign 0.44
R0008:Prep UTSW 10 44,991,174 (GRCm39) missense probably benign 0.17
R0008:Prep UTSW 10 44,991,174 (GRCm39) missense probably benign 0.17
R0167:Prep UTSW 10 45,034,326 (GRCm39) critical splice acceptor site probably null
R0396:Prep UTSW 10 44,968,772 (GRCm39) missense probably damaging 1.00
R0828:Prep UTSW 10 45,031,621 (GRCm39) missense probably benign 0.01
R1309:Prep UTSW 10 45,002,122 (GRCm39) missense probably benign
R2166:Prep UTSW 10 44,968,751 (GRCm39) splice site probably benign
R4020:Prep UTSW 10 44,968,894 (GRCm39) splice site probably benign
R4058:Prep UTSW 10 45,034,467 (GRCm39) missense probably benign 0.29
R4162:Prep UTSW 10 44,943,458 (GRCm39) missense possibly damaging 0.96
R4163:Prep UTSW 10 44,943,458 (GRCm39) missense possibly damaging 0.96
R4163:Prep UTSW 10 44,943,436 (GRCm39) missense probably benign
R4328:Prep UTSW 10 44,996,745 (GRCm39) missense probably benign
R4343:Prep UTSW 10 44,996,866 (GRCm39) missense probably damaging 0.99
R4493:Prep UTSW 10 44,996,915 (GRCm39) missense probably benign 0.38
R4495:Prep UTSW 10 44,996,915 (GRCm39) missense probably benign 0.38
R5192:Prep UTSW 10 45,029,207 (GRCm39) missense probably benign 0.28
R5569:Prep UTSW 10 44,973,533 (GRCm39) missense probably benign
R5888:Prep UTSW 10 44,943,460 (GRCm39) missense possibly damaging 0.74
R5999:Prep UTSW 10 44,948,225 (GRCm39) critical splice donor site probably null
R6468:Prep UTSW 10 44,991,203 (GRCm39) missense probably damaging 1.00
R6556:Prep UTSW 10 45,034,410 (GRCm39) frame shift probably null
R6737:Prep UTSW 10 44,973,591 (GRCm39) missense possibly damaging 0.62
R6762:Prep UTSW 10 45,024,219 (GRCm39) critical splice donor site probably null
R6830:Prep UTSW 10 44,973,597 (GRCm39) missense probably benign 0.01
R7105:Prep UTSW 10 45,002,159 (GRCm39) missense probably benign
R7193:Prep UTSW 10 44,968,795 (GRCm39) missense probably benign 0.00
R7466:Prep UTSW 10 45,026,534 (GRCm39) missense probably benign 0.32
R7492:Prep UTSW 10 44,996,910 (GRCm39) missense probably damaging 1.00
R7553:Prep UTSW 10 45,034,620 (GRCm39) makesense probably null
R7860:Prep UTSW 10 44,967,108 (GRCm39) missense probably damaging 1.00
R8544:Prep UTSW 10 45,029,223 (GRCm39) missense probably damaging 1.00
R8808:Prep UTSW 10 44,971,252 (GRCm39) nonsense probably null
R8894:Prep UTSW 10 45,034,620 (GRCm39) makesense probably null
R9055:Prep UTSW 10 44,991,291 (GRCm39) missense probably benign 0.01
R9316:Prep UTSW 10 44,967,192 (GRCm39) missense probably damaging 1.00
R9488:Prep UTSW 10 44,996,807 (GRCm39) missense
Z1176:Prep UTSW 10 45,026,564 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGGTACTGAGCTTTCCATC -3'
(R):5'- CTGCAAAGTTAAAGGGAGCTGC -3'

Sequencing Primer
(F):5'- CATTAAAATGGAGGCGCCTC -3'
(R):5'- GGGAGCTGCCAGAAAACCC -3'
Posted On 2018-07-24