Incidental Mutation 'IGL02751:Prep'
ID306300
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prep
Ensembl Gene ENSMUSG00000019849
Gene Nameprolyl endopeptidase
Synonymsprolyl oligopeptidase, Pop, D10Wsu136e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02751
Quality Score
Status
Chromosome10
Chromosomal Location45067203-45167198 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 45115186 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 316 (I316N)
Ref Sequence ENSEMBL: ENSMUSP00000097444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099858]
Predicted Effect probably damaging
Transcript: ENSMUST00000099858
AA Change: I316N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097444
Gene: ENSMUSG00000019849
AA Change: I316N

DomainStartEndE-ValueType
Pfam:Peptidase_S9_N 7 423 1.2e-170 PFAM
Pfam:Peptidase_S9 482 707 1.7e-72 PFAM
Coding Region Coverage
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1a A T 14: 66,727,532 I324F possibly damaging Het
Ago2 G A 15: 73,130,897 A162V possibly damaging Het
Aox4 G T 1: 58,259,052 R1059I probably damaging Het
AU021092 C A 16: 5,212,619 V304L probably damaging Het
Bcs1l T G 1: 74,589,616 F20V probably damaging Het
Braf T C 6: 39,660,867 probably benign Het
Cacna1a T C 8: 84,569,952 C1200R probably damaging Het
Ccdc116 T A 16: 17,141,972 R284S probably benign Het
Cntnap5a T G 1: 116,184,457 probably null Het
Col12a1 A T 9: 79,613,859 probably benign Het
Cpa4 T A 6: 30,581,740 Y229N probably damaging Het
Fbp1 A C 13: 62,875,143 probably null Het
Gimap3 A T 6: 48,765,238 W253R probably benign Het
Gm1330 G A 2: 148,990,473 probably benign Het
Gm4841 A G 18: 60,271,021 probably benign Het
Grip1 A G 10: 119,978,577 T338A probably benign Het
Hmg20b A T 10: 81,346,551 probably benign Het
Hnrnpdl A G 5: 100,037,974 F151L probably damaging Het
Klhl30 T A 1: 91,354,099 F141I probably damaging Het
Lamc3 T A 2: 31,920,704 F862Y probably benign Het
Lap3 T C 5: 45,504,796 C313R probably damaging Het
Lrp2 T C 2: 69,533,462 T344A possibly damaging Het
Mga A G 2: 119,947,770 E2023G possibly damaging Het
Mical2 A T 7: 112,332,036 K735N probably benign Het
Muc15 A G 2: 110,731,773 T185A probably benign Het
Olfr109 T C 17: 37,466,415 C70R probably damaging Het
Osbp2 T C 11: 3,863,434 K145R probably benign Het
Pde1c T C 6: 56,181,688 T52A probably damaging Het
Pidd1 A G 7: 141,439,163 S802P possibly damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Prl3d2 G A 13: 27,126,031 probably null Het
Pygo1 A T 9: 72,945,037 I169F probably benign Het
Rnf10 G T 5: 115,242,666 A716E probably benign Het
Rtn4 G A 11: 29,706,409 probably null Het
Ryr1 A T 7: 29,078,774 V2099E probably damaging Het
Slc48a1 G A 15: 97,790,080 probably benign Het
Spag17 T A 3: 100,010,794 Y364* probably null Het
Syt3 A T 7: 44,386,062 D31V possibly damaging Het
Tango2 G T 16: 18,307,993 P143H probably benign Het
Tas2r104 A G 6: 131,685,144 S201P probably damaging Het
Tas2r107 G A 6: 131,659,484 L201F probably damaging Het
Vmn1r81 A T 7: 12,260,447 L78Q probably damaging Het
Vmn2r18 T A 5: 151,584,607 T351S probably benign Het
Other mutations in Prep
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00654:Prep APN 10 45115173 missense probably damaging 1.00
IGL01412:Prep APN 10 45153112 missense probably damaging 1.00
IGL01577:Prep APN 10 45072048 splice site probably benign
IGL02754:Prep APN 10 45067332 start codon destroyed probably null 0.23
IGL02875:Prep APN 10 45158433 missense probably damaging 1.00
IGL02957:Prep APN 10 45126030 missense probably benign 0.44
R0008:Prep UTSW 10 45115078 missense probably benign 0.17
R0008:Prep UTSW 10 45115078 missense probably benign 0.17
R0167:Prep UTSW 10 45158230 critical splice acceptor site probably null
R0396:Prep UTSW 10 45092676 missense probably damaging 1.00
R0828:Prep UTSW 10 45155525 missense probably benign 0.01
R1309:Prep UTSW 10 45126026 missense probably benign
R2166:Prep UTSW 10 45092655 splice site probably benign
R4020:Prep UTSW 10 45092798 splice site probably benign
R4058:Prep UTSW 10 45158371 missense probably benign 0.29
R4162:Prep UTSW 10 45067362 missense possibly damaging 0.96
R4163:Prep UTSW 10 45067340 missense probably benign
R4163:Prep UTSW 10 45067362 missense possibly damaging 0.96
R4328:Prep UTSW 10 45120649 missense probably benign
R4343:Prep UTSW 10 45120770 missense probably damaging 0.99
R4493:Prep UTSW 10 45120819 missense probably benign 0.38
R4495:Prep UTSW 10 45120819 missense probably benign 0.38
R5192:Prep UTSW 10 45153111 missense probably benign 0.28
R5569:Prep UTSW 10 45097437 missense probably benign
R5888:Prep UTSW 10 45067364 missense possibly damaging 0.74
R5999:Prep UTSW 10 45072129 critical splice donor site probably null
R6468:Prep UTSW 10 45115107 missense probably damaging 1.00
R6556:Prep UTSW 10 45158314 frame shift probably null
R6696:Prep UTSW 10 45153078 missense probably damaging 1.00
R6737:Prep UTSW 10 45097495 missense possibly damaging 0.62
R6762:Prep UTSW 10 45148123 critical splice donor site probably null
R6830:Prep UTSW 10 45097501 missense probably benign 0.01
R7105:Prep UTSW 10 45126063 missense probably benign
R7193:Prep UTSW 10 45092699 missense probably benign 0.00
R7466:Prep UTSW 10 45150438 missense probably benign 0.32
Posted On2015-04-16