Incidental Mutation 'R6737:Prep'
ID 530254
Institutional Source Beutler Lab
Gene Symbol Prep
Ensembl Gene ENSMUSG00000019849
Gene Name prolyl endopeptidase
Synonyms Pop, D10Wsu136e, prolyl oligopeptidase
MMRRC Submission 044855-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6737 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 44943312-45038847 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44973591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Isoleucine at position 233 (K233I)
Ref Sequence ENSEMBL: ENSMUSP00000097444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099858]
AlphaFold Q9QUR6
Predicted Effect possibly damaging
Transcript: ENSMUST00000099858
AA Change: K233I

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097444
Gene: ENSMUSG00000019849
AA Change: K233I

DomainStartEndE-ValueType
Pfam:Peptidase_S9_N 7 423 1.2e-170 PFAM
Pfam:Peptidase_S9 482 707 1.7e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000103894
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.9%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik T C 16: 88,504,456 (GRCm39) R114G probably damaging Het
Atm A T 9: 53,397,351 (GRCm39) S1661T probably benign Het
Castor1 A G 11: 4,171,685 (GRCm39) D303G probably damaging Het
Cd69 C T 6: 129,245,262 (GRCm39) A188T probably benign Het
Cecr2 G T 6: 120,714,084 (GRCm39) L225F possibly damaging Het
Cep295 A G 9: 15,243,647 (GRCm39) V1603A possibly damaging Het
Clec4g T C 8: 3,757,716 (GRCm39) probably benign Het
Clptm1 A T 7: 19,371,001 (GRCm39) probably null Het
Crybg2 G T 4: 133,800,001 (GRCm39) G387V probably damaging Het
Ctcf T A 8: 106,391,140 (GRCm39) M249K probably benign Het
Ctnnd2 C A 15: 30,966,980 (GRCm39) S952* probably null Het
Cxcr2 T C 1: 74,197,790 (GRCm39) F95L probably benign Het
Ddx55 C A 5: 124,691,008 (GRCm39) T5K probably damaging Het
Depp1 G T 6: 116,629,058 (GRCm39) V134L possibly damaging Het
Eif2ak2 T C 17: 79,171,377 (GRCm39) N342S probably benign Het
Eif2ak4 TGG TG 2: 118,292,749 (GRCm39) probably null Het
Epb41l2 C G 10: 25,364,916 (GRCm39) probably null Het
Fam234b A G 6: 135,205,513 (GRCm39) K493E probably damaging Het
Fndc7 C A 3: 108,779,594 (GRCm39) V317L probably damaging Het
Fpr-rs6 T C 17: 20,403,339 (GRCm39) I7M probably benign Het
Gal3st1 T A 11: 3,948,903 (GRCm39) I370N probably benign Het
Glo1 C T 17: 30,816,814 (GRCm39) S114N probably benign Het
Grik1 T C 16: 87,848,279 (GRCm39) D163G probably damaging Het
Grxcr1 T C 5: 68,267,835 (GRCm39) C195R probably damaging Het
Hdac9 T C 12: 34,265,451 (GRCm39) N806S probably damaging Het
Igfn1 T C 1: 135,897,605 (GRCm39) N987S probably benign Het
Klhl29 G T 12: 5,260,124 (GRCm39) S31R possibly damaging Het
Lama4 C T 10: 38,970,907 (GRCm39) R1491C probably damaging Het
Lmtk3 T C 7: 45,443,051 (GRCm39) L578P probably damaging Het
Lrrk2 A C 15: 91,607,421 (GRCm39) M595L possibly damaging Het
Mmp27 A T 9: 7,571,955 (GRCm39) N52Y possibly damaging Het
Mrc1 C T 2: 14,276,088 (GRCm39) A474V possibly damaging Het
Msl1 A G 11: 98,694,908 (GRCm39) H134R probably damaging Het
Muc5b T C 7: 141,411,236 (GRCm39) M1394T unknown Het
Myof G A 19: 37,931,962 (GRCm39) T968I probably benign Het
Nat8f2 A T 6: 85,845,194 (GRCm39) M56K probably benign Het
Ncoa5 C T 2: 164,844,055 (GRCm39) G116D probably damaging Het
Ndst2 A G 14: 20,777,562 (GRCm39) L494P probably damaging Het
Nfatc3 T A 8: 106,810,601 (GRCm39) V459E probably damaging Het
Nup133 A T 8: 124,633,030 (GRCm39) Y1034N probably damaging Het
Nup153 A T 13: 46,842,682 (GRCm39) S829T probably benign Het
Or3a1b A G 11: 74,012,732 (GRCm39) S206G probably benign Het
Or4f47 T C 2: 111,972,548 (GRCm39) F86S probably damaging Het
Or52a24 C T 7: 103,381,357 (GRCm39) L75F probably damaging Het
Or5ac19 A G 16: 59,089,175 (GRCm39) L285P possibly damaging Het
Pcdh18 C A 3: 49,710,344 (GRCm39) V324F probably damaging Het
Pcdhb5 T A 18: 37,455,723 (GRCm39) L701H probably damaging Het
Plau T G 14: 20,887,884 (GRCm39) Y43D probably damaging Het
Pld5 T A 1: 175,917,588 (GRCm39) N53I probably damaging Het
Pon2 T A 6: 5,266,183 (GRCm39) I279F probably benign Het
Rap1b T C 10: 117,658,713 (GRCm39) Y40C probably damaging Het
Ric8a T C 7: 140,438,789 (GRCm39) probably null Het
Rnf19b T C 4: 128,979,344 (GRCm39) probably benign Het
Rpl9-ps6 A C 19: 32,443,727 (GRCm39) S75R probably damaging Het
Sh3bp2 A G 5: 34,719,818 (GRCm39) Y609C probably damaging Het
Skint5 T C 4: 113,392,936 (GRCm39) N1232S unknown Het
Slc28a1 T G 7: 80,818,996 (GRCm39) V615G probably benign Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Snx13 T G 12: 35,190,185 (GRCm39) N845K probably damaging Het
Srms T C 2: 180,851,253 (GRCm39) Y171C probably damaging Het
Supt6 A G 11: 78,122,644 (GRCm39) L193P probably damaging Het
Syt7 G A 19: 10,421,408 (GRCm39) V531M probably damaging Het
Tmem255b T C 8: 13,507,096 (GRCm39) probably null Het
Tnik A T 3: 28,650,235 (GRCm39) K449N possibly damaging Het
Trim29 A T 9: 43,230,681 (GRCm39) D288V probably benign Het
Ttc13 T A 8: 125,408,900 (GRCm39) probably null Het
Uchl3 A T 14: 101,928,033 (GRCm39) D167V probably damaging Het
Ugt3a1 T C 15: 9,311,895 (GRCm39) V379A probably benign Het
Vps13b A G 15: 35,910,757 (GRCm39) D3507G probably damaging Het
Wfdc2 A T 2: 164,405,362 (GRCm39) K88* probably null Het
Ylpm1 C A 12: 85,077,620 (GRCm39) H1448Q probably damaging Het
Zc3h14 A G 12: 98,751,305 (GRCm39) K667E 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
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'- GCATCGTCTAAGAGTTAGGTTTCC -3'
(R):5'- CACGAAACTGATCTCTGGGGTG -3'

Sequencing Primer
(F):5'- AGGTTTCCTTAAGGTCGCCAAC -3'
(R):5'- GTCATCATAACCATAAGCAGGTTTTG -3'
Posted On 2018-08-01