Incidental Mutation 'R6556:Prep'
ID 522179
Institutional Source Beutler Lab
Gene Symbol Prep
Ensembl Gene ENSMUSG00000019849
Gene Name prolyl endopeptidase
Synonyms Pop, D10Wsu136e, prolyl oligopeptidase
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6556 (G1)
Quality Score 217.468
Status Not validated
Chromosome 10
Chromosomal Location 44943312-45038847 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) GA to G at 45034410 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000097444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099858]
AlphaFold Q9QUR6
Predicted Effect probably null
Transcript: ENSMUST00000099858
SMART Domains Protein: ENSMUSP00000097444
Gene: ENSMUSG00000019849

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: 99.3%
  • 20x: 97.5%
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 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atosb C T 4: 43,033,896 (GRCm39) R460H probably damaging Het
Atp2a1 G T 7: 126,049,434 (GRCm39) P536Q probably benign Het
Bnip5 T A 17: 29,123,585 (GRCm39) D114V probably damaging Het
Cabyr T A 18: 12,884,073 (GRCm39) S187T probably benign Het
Camkk1 A T 11: 72,924,696 (GRCm39) N303I probably benign Het
Cdh13 C T 8: 119,694,926 (GRCm39) P259S probably damaging Het
Csnk1g3 A G 18: 54,063,354 (GRCm39) D255G possibly damaging Het
Dennd5b A C 6: 148,915,749 (GRCm39) probably null Het
Dnajc14 A G 10: 128,650,500 (GRCm39) D528G probably benign Het
Edem1 T C 6: 108,831,318 (GRCm39) F593S probably benign Het
Efcab3 A G 11: 104,899,077 (GRCm39) N4343S probably null Het
Erbb2 G A 11: 98,326,908 (GRCm39) D1106N possibly damaging Het
Ermp1 T C 19: 29,590,321 (GRCm39) M794V possibly damaging Het
Fip1l1 T A 5: 74,707,838 (GRCm39) probably null Het
Gm20730 C T 6: 43,058,476 (GRCm39) C112Y probably damaging Het
Gtf2h1 T A 7: 46,458,089 (GRCm39) C245S probably damaging Het
Hdhd5 T C 6: 120,500,515 (GRCm39) H61R probably benign Het
Ighv1-71 A T 12: 115,706,092 (GRCm39) V31E probably damaging Het
Igsf9b T C 9: 27,240,851 (GRCm39) F688S probably damaging Het
Iqcd T C 5: 120,740,443 (GRCm39) V258A probably damaging Het
Kcnc2 G C 10: 112,107,761 (GRCm39) G51R probably benign Het
Lpo G T 11: 87,708,589 (GRCm39) Y136* probably null Het
Med30 A G 15: 52,593,779 (GRCm39) probably benign Het
Mertk T A 2: 128,618,341 (GRCm39) V524D probably benign Het
Ndufb11b A G 15: 81,864,939 (GRCm39) D60G probably damaging Het
Or4c126 T A 2: 89,824,517 (GRCm39) F260Y probably benign Het
Or4c52 T C 2: 89,845,438 (GRCm39) Y55H probably damaging Het
Or5l13 T C 2: 87,780,320 (GRCm39) I86V probably benign Het
Pde6b T A 5: 108,569,367 (GRCm39) M358K possibly damaging Het
Prpf4b G A 13: 35,080,015 (GRCm39) R793Q probably damaging Het
Rela T A 19: 5,697,366 (GRCm39) N524K probably damaging Het
Relch T A 1: 105,654,165 (GRCm39) F845I probably damaging Het
Rnaset2a T C 17: 8,360,480 (GRCm39) D74G probably damaging Het
Semp2l2a G A 8: 13,887,690 (GRCm39) Q134* probably null Het
Serinc2 T A 4: 130,152,064 (GRCm39) I267F probably damaging Het
Sesn3 T C 9: 14,232,549 (GRCm39) F274S possibly damaging Het
Spag1 T C 15: 36,195,553 (GRCm39) Y249H probably damaging Het
Sstr1 A T 12: 58,260,478 (GRCm39) D367V possibly damaging Het
Tasor T G 14: 27,151,215 (GRCm39) Y64D probably benign Het
Tnnt1 T C 7: 4,512,576 (GRCm39) E110G probably damaging Het
Tpm1 T A 9: 66,935,451 (GRCm39) probably null Het
Unc93b1 T C 19: 3,994,105 (GRCm39) V412A probably benign Het
Uox G C 3: 146,330,403 (GRCm39) probably null Het
Usp44 T C 10: 93,681,870 (GRCm39) Y107H probably benign 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
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
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'- TCCTCGGTAGTGAAGTGAGG -3'
(R):5'- TTCAGGCACCGTGCTATGAAC -3'

Sequencing Primer
(F):5'- AGTGAAGTGAGGTCCTGCGC -3'
(R):5'- GTGCTATGAACGCAAACATATCCGAG -3'
Posted On 2018-06-06