Incidental Mutation 'R4328:Prep'
ID 324477
Institutional Source Beutler Lab
Gene Symbol Prep
Ensembl Gene ENSMUSG00000019849
Gene Name prolyl endopeptidase
Synonyms Pop, D10Wsu136e, prolyl oligopeptidase
MMRRC Submission 041098-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4328 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 44943312-45038847 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44996745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 341 (V341A)
Ref Sequence ENSEMBL: ENSMUSP00000097444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099858]
AlphaFold Q9QUR6
Predicted Effect probably benign
Transcript: ENSMUST00000099858
AA Change: V341A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097444
Gene: ENSMUSG00000019849
AA Change: V341A

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (56/57)
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
2300009A05Rik T C 9: 63,306,238 (GRCm39) K89R probably damaging Het
Aadacl4fm2 T A 4: 144,282,164 (GRCm39) K209N possibly damaging Het
Alcam T C 16: 52,073,579 (GRCm39) N549S possibly damaging Het
Arap2 A T 5: 62,779,206 (GRCm39) H1461Q possibly damaging Het
Bin3 A G 14: 70,356,054 (GRCm39) I4V probably benign Het
Brd10 G T 19: 29,720,961 (GRCm39) T688K probably benign Het
C9orf72 T A 4: 35,225,985 (GRCm39) probably benign Het
Cd55 C T 1: 130,375,104 (GRCm39) probably benign Het
Cd55 A T 1: 130,380,220 (GRCm39) C253S probably damaging Het
Col12a1 T A 9: 79,607,671 (GRCm39) T386S possibly damaging Het
Col13a1 T C 10: 61,699,758 (GRCm39) T476A unknown Het
Crym C T 7: 119,794,562 (GRCm39) G219E probably damaging Het
Cwf19l2 A T 9: 3,458,878 (GRCm39) I776F probably damaging Het
Eif1ad16 T A 12: 87,985,285 (GRCm39) D86V possibly damaging Het
Erlec1 C T 11: 30,899,972 (GRCm39) E166K probably benign Het
Gm3336 C T 8: 71,173,234 (GRCm39) T82I probably benign Het
Gm3604 A T 13: 62,517,079 (GRCm39) S425R possibly damaging Het
Gpn2 T C 4: 133,315,919 (GRCm39) V203A probably benign Het
Gskip T C 12: 105,666,960 (GRCm39) Y113H probably damaging Het
Hcn2 T C 10: 79,560,445 (GRCm39) Y259H probably damaging Het
Hira C A 16: 18,715,362 (GRCm39) Q87K probably benign Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Kirrel1 T C 3: 86,992,081 (GRCm39) probably benign Het
Klhl40 A G 9: 121,607,956 (GRCm39) D372G probably benign Het
Lingo2 T A 4: 35,708,462 (GRCm39) D506V probably damaging Het
Ly6e C A 15: 74,830,370 (GRCm39) N73K probably damaging Het
Med12l T C 3: 59,172,688 (GRCm39) S1813P probably benign Het
Med24 A G 11: 98,597,942 (GRCm39) probably null Het
Niban1 T C 1: 151,512,169 (GRCm39) S24P possibly damaging Het
Nup210l C A 3: 90,083,142 (GRCm39) probably null Het
Or2t1 T A 14: 14,328,193 (GRCm38) F27L probably damaging Het
Or5w12 C A 2: 87,502,008 (GRCm39) R234S possibly damaging Het
Or7g34 T A 9: 19,478,318 (GRCm39) M121L possibly damaging Het
Or8d1 T C 9: 38,767,132 (GRCm39) M258T possibly damaging Het
Pafah1b1 T C 11: 74,573,066 (GRCm39) T333A probably benign Het
Pak3 T C X: 142,516,205 (GRCm39) probably null Het
Palm G A 10: 79,643,520 (GRCm39) G83S probably benign Het
Pax8 A G 2: 24,331,663 (GRCm39) F140S possibly damaging Het
Ppargc1b A T 18: 61,515,540 (GRCm39) C34* probably null Het
Ppp3cb A T 14: 20,581,016 (GRCm39) I136K probably damaging Het
Prickle4 C A 17: 47,999,543 (GRCm39) G337C probably damaging Het
Rabgap1 T A 2: 37,422,627 (GRCm39) Y627N probably damaging Het
Ryr1 T C 7: 28,782,484 (GRCm39) Y1953C probably damaging Het
Snrnp200 T A 2: 127,064,137 (GRCm39) V708D probably damaging Het
Tent5b C T 4: 133,213,914 (GRCm39) Q262* probably null Het
Tmem107 G T 11: 68,962,301 (GRCm39) probably null Het
Tmem62 T A 2: 120,810,991 (GRCm39) N156K probably damaging Het
Ttyh1 A T 7: 4,133,580 (GRCm39) D295V probably damaging Het
Twsg1 T C 17: 66,255,733 (GRCm39) T14A probably benign Het
Zfp184 T C 13: 22,144,072 (GRCm39) Y593H probably damaging Het
Zfp239 T C 6: 117,848,745 (GRCm39) L161P probably damaging Het
Zpbp2 A G 11: 98,448,432 (GRCm39) T199A 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
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
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'- AGGTTGTGTACTCCTCGTTGAC -3'
(R):5'- TGTGAACTGGTAGAAGATCTCAG -3'

Sequencing Primer
(F):5'- CTCGTTGACTATCACCAAGATGGAG -3'
(R):5'- CTGGTAGAAGATCTCAGAGTCCTTC -3'
Posted On 2015-06-24