Incidental Mutation 'R6830:Prep'
ID 534356
Institutional Source Beutler Lab
Gene Symbol Prep
Ensembl Gene ENSMUSG00000019849
Gene Name prolyl endopeptidase
Synonyms Pop, D10Wsu136e, prolyl oligopeptidase
MMRRC Submission 044940-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6830 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 44943312-45038847 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44973597 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 235 (M235K)
Ref Sequence ENSEMBL: ENSMUSP00000097444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099858]
AlphaFold Q9QUR6
Predicted Effect probably benign
Transcript: ENSMUST00000099858
AA Change: M235K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000097444
Gene: ENSMUSG00000019849
AA Change: M235K

DomainStartEndE-ValueType
Pfam:Peptidase_S9_N 7 423 1.2e-170 PFAM
Pfam:Peptidase_S9 482 707 1.7e-72 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 98% (53/54)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik T C 3: 146,356,716 (GRCm39) D64G possibly damaging Het
Amtn T C 5: 88,525,956 (GRCm39) L40P probably damaging Het
Ano6 A G 15: 95,792,342 (GRCm39) R90G probably damaging Het
Arfgef3 A C 10: 18,540,637 (GRCm39) probably null Het
Asxl3 C T 18: 22,658,445 (GRCm39) P2152S probably benign Het
Atp7b A T 8: 22,512,381 (GRCm39) V494E probably damaging Het
Bik T A 15: 83,428,409 (GRCm39) Y146N probably benign Het
C1qtnf7 A T 5: 43,766,436 (GRCm39) I12F possibly damaging Het
Cacna1e A G 1: 154,289,720 (GRCm39) probably null Het
Ccdc168 A G 1: 44,095,890 (GRCm39) V1736A probably benign Het
Ccnj A G 19: 40,833,636 (GRCm39) E231G probably damaging Het
Cd101 T C 3: 100,901,012 (GRCm39) K1020R probably benign Het
Cdh6 C A 15: 13,044,860 (GRCm39) V421L probably benign Het
Cplane1 T C 15: 8,205,668 (GRCm39) S135P probably benign Het
Decr1 T C 4: 15,924,355 (GRCm39) probably null Het
Dmxl1 C T 18: 50,054,091 (GRCm39) P2566S probably damaging Het
Dock9 G A 14: 121,860,330 (GRCm39) P866L probably damaging Het
Epx A G 11: 87,759,452 (GRCm39) F546L probably damaging Het
Fat4 T A 3: 39,035,966 (GRCm39) M3206K probably benign Het
Fgb T C 3: 82,952,332 (GRCm39) D179G probably benign Het
Gbgt1 A G 2: 28,395,220 (GRCm39) D286G probably damaging Het
Gpn1 T A 5: 31,664,832 (GRCm39) S285R probably benign Het
Htt T A 5: 34,991,670 (GRCm39) Y1212N possibly damaging Het
Kcnj13 T C 1: 87,314,745 (GRCm39) K159R probably damaging Het
Ldb2 T A 5: 44,699,199 (GRCm39) I80F probably damaging Het
Macrod2 T A 2: 140,294,602 (GRCm39) N89K probably damaging Het
Mdga2 G A 12: 66,769,775 (GRCm39) R173C probably damaging Het
Mroh9 A G 1: 162,903,935 (GRCm39) F26L probably benign Het
Neil3 G T 8: 54,052,514 (GRCm39) N361K probably benign Het
Nepro A G 16: 44,551,720 (GRCm39) R193G probably damaging Het
Or52d3 T A 7: 104,229,447 (GRCm39) I198N probably damaging Het
Pclo A T 5: 14,731,113 (GRCm39) Q3205L unknown Het
Plekhm1 A T 11: 103,267,715 (GRCm39) I752N probably damaging Het
Podn T C 4: 107,878,614 (GRCm39) T273A possibly damaging Het
Ptprc A T 1: 137,999,993 (GRCm39) probably null Het
Reg2 A G 6: 78,384,625 (GRCm39) H119R possibly damaging Het
Rpe65 T C 3: 159,319,805 (GRCm39) V225A probably benign Het
Scn9a T C 2: 66,398,373 (GRCm39) D79G probably damaging Het
Slc25a23 G A 17: 57,360,804 (GRCm39) R9* probably null Het
Snai3 A G 8: 123,183,212 (GRCm39) L111P probably damaging Het
Stk38 A G 17: 29,218,981 (GRCm39) probably null Het
Stk38l A T 6: 146,668,269 (GRCm39) I115F possibly damaging Het
Tmco6 T A 18: 36,871,406 (GRCm39) probably null Het
Tollip A T 7: 141,452,451 (GRCm39) M1K probably null Het
Trim40 T C 17: 37,199,742 (GRCm39) Y112C possibly damaging Het
Ttc27 T A 17: 75,163,550 (GRCm39) Y719* probably null Het
Ubald1 T C 16: 4,697,584 (GRCm39) D6G probably damaging Het
Vmn2r59 A T 7: 41,693,171 (GRCm39) S476R probably benign Het
Wfdc3 C T 2: 164,576,178 (GRCm39) G38R possibly damaging Het
Zbtb21 C T 16: 97,753,161 (GRCm39) G402D probably damaging Het
Zfp84 A G 7: 29,475,911 (GRCm39) Y201C probably benign Het
Zswim2 T A 2: 83,770,028 (GRCm39) H62L 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
R6696:Prep UTSW 10 45,029,174 (GRCm39) missense probably damaging 1.00
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
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'- TCGTCTAAGAGTTAGGTTTCCTTAAGG -3'
(R):5'- ACGAAACTGATCTCTGGGGTG -3'

Sequencing Primer
(F):5'- AGGTTTCCTTAAGGTCGCCAAC -3'
(R):5'- GTCATCATAACCATAAGCAGGTTTTG -3'
Posted On 2018-09-12