Incidental Mutation 'R4630:Prepl'
ID 349153
Institutional Source Beutler Lab
Gene Symbol Prepl
Ensembl Gene ENSMUSG00000024127
Gene Name prolyl endopeptidase-like
Synonyms 9530014L06Rik, D030028O16Rik, 2810457N15Rik
MMRRC Submission 041895-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R4630 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 85370898-85397669 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85390659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 100 (T100A)
Ref Sequence ENSEMBL: ENSMUSP00000130967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072406] [ENSMUST00000171795]
AlphaFold Q8C167
Predicted Effect probably benign
Transcript: ENSMUST00000072406
AA Change: T13A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000072239
Gene: ENSMUSG00000024127
AA Change: T13A

DomainStartEndE-ValueType
Pfam:Peptidase_S9_N 15 339 7.4e-28 PFAM
Pfam:Peptidase_S9 399 623 1.3e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171795
AA Change: T100A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000130967
Gene: ENSMUSG00000024127
AA Change: T100A

DomainStartEndE-ValueType
Pfam:Peptidase_S9_N 86 428 5.2e-30 PFAM
Pfam:Peptidase_S9 486 710 2e-35 PFAM
Meta Mutation Damage Score 0.1690 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (74/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.[provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired growth and neonatal hypotonia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik A T 13: 119,624,622 (GRCm39) probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
BC024139 T G 15: 76,009,294 (GRCm39) Q240P probably benign Het
Bckdha A T 7: 25,330,884 (GRCm39) I44N probably damaging Het
Brpf1 T C 6: 113,286,867 (GRCm39) Y32H probably damaging Het
Catip A G 1: 74,408,072 (GRCm39) probably benign Het
Ccdc138 T C 10: 58,409,477 (GRCm39) L602P probably damaging Het
Cilp A T 9: 65,187,162 (GRCm39) T1086S probably benign Het
Comp A T 8: 70,827,032 (GRCm39) I58F possibly damaging Het
Crygs T C 16: 22,624,268 (GRCm39) E113G possibly damaging Het
Dnmt3b C T 2: 153,512,235 (GRCm39) R319* probably null Het
Eif3a A G 19: 60,758,366 (GRCm39) I804T unknown Het
Eif3a A T 19: 60,766,424 (GRCm39) H301Q probably benign Het
Elf3 A T 1: 135,184,478 (GRCm39) probably benign Het
Fads2b C A 2: 85,348,990 (GRCm39) G41* probably null Het
Gm10384 A G 15: 36,872,017 (GRCm39) noncoding transcript Het
Gm11627 T A 11: 102,469,657 (GRCm39) probably benign Het
Gpr183 A T 14: 122,192,261 (GRCm39) Y87N probably damaging Het
Gpr183 G C 14: 122,192,262 (GRCm39) Y86* probably null Het
Gpr26 T C 7: 131,568,709 (GRCm39) V18A probably damaging Het
Herc1 T A 9: 66,340,996 (GRCm39) probably null Het
Hint2 C T 4: 43,656,396 (GRCm39) probably benign Het
Jag1 A T 2: 136,927,899 (GRCm39) D837E probably damaging Het
Jmjd1c C A 10: 66,993,753 (GRCm39) S78* probably null Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Lalba T C 15: 98,380,549 (GRCm39) M2V probably benign Het
Lama1 T A 17: 68,101,295 (GRCm39) D1929E probably benign Het
Macf1 T C 4: 123,367,432 (GRCm39) K878R possibly damaging Het
Mboat4 T C 8: 34,591,108 (GRCm39) S182P probably damaging Het
Muc5b A T 7: 141,411,721 (GRCm39) T1556S unknown Het
Myo1g T C 11: 6,469,047 (GRCm39) Y85C probably damaging Het
Ncapd2 C A 6: 125,156,196 (GRCm39) probably null Het
Nox3 T C 17: 3,744,257 (GRCm39) D96G possibly damaging Het
Or10a48 T C 7: 108,424,802 (GRCm39) M135V probably damaging Het
Or1e17 T C 11: 73,831,822 (GRCm39) L250P probably damaging Het
Or6c212 A G 10: 129,559,350 (GRCm39) L21P probably damaging Het
Pacs1 C T 19: 5,206,384 (GRCm39) probably null Het
Pgap4 C G 4: 49,586,254 (GRCm39) V305L probably benign Het
Pgm5 C A 19: 24,812,110 (GRCm39) G141* probably null Het
Pik3r4 A G 9: 105,532,098 (GRCm39) M557V probably benign Het
Pld4 T A 12: 112,731,498 (GRCm39) V217D probably damaging Het
Pphln1-ps1 T C 16: 13,495,278 (GRCm39) S126P probably damaging Het
Ppp1r3c T C 19: 36,710,915 (GRCm39) E285G probably benign Het
Pradc1 T A 6: 85,424,275 (GRCm39) M24L possibly damaging Het
Rmi2 C T 16: 10,704,073 (GRCm39) T138I probably benign Het
Rtkn A T 6: 83,129,163 (GRCm39) K540* probably null Het
Sag C A 1: 87,762,340 (GRCm39) T335K probably damaging Het
Setd4 A G 16: 93,388,114 (GRCm39) L124P probably benign Het
Sh3gl2 A G 4: 85,297,646 (GRCm39) D208G probably damaging Het
Sult4a1 T C 15: 83,989,779 (GRCm39) T8A possibly damaging Het
Tert A G 13: 73,797,110 (GRCm39) D1116G probably damaging Het
Tlr4 A G 4: 66,757,477 (GRCm39) E90G probably benign Het
Tmem123 T C 9: 7,791,393 (GRCm39) L164P probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trak1 G A 9: 121,283,491 (GRCm39) R419Q probably benign Het
Trp53bp1 G T 2: 121,038,368 (GRCm39) A1490D probably damaging Het
Ttc16 T C 2: 32,665,389 (GRCm39) probably benign Het
Tyw5 T A 1: 57,427,686 (GRCm39) Q306L probably damaging Het
Ube2j2 T A 4: 156,039,715 (GRCm39) I14N probably damaging Het
Vmn2r103 T C 17: 20,013,958 (GRCm39) I250T probably benign Het
Zar1 A G 5: 72,738,249 (GRCm39) V51A probably benign Het
Zbtb38 T G 9: 96,570,904 (GRCm39) N60T probably damaging Het
Zfp354a T C 11: 50,961,045 (GRCm39) S417P probably damaging Het
Zfp410 A T 12: 84,372,510 (GRCm39) D112V probably damaging Het
Zfp518a C T 19: 40,901,423 (GRCm39) Q451* probably null Het
Zfp64 T C 2: 168,768,463 (GRCm39) N383S possibly damaging Het
Zfp687 A T 3: 94,919,799 (GRCm39) probably null Het
Other mutations in Prepl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00708:Prepl APN 17 85,385,935 (GRCm39) missense probably damaging 1.00
IGL01375:Prepl APN 17 85,379,419 (GRCm39) missense possibly damaging 0.92
IGL01618:Prepl APN 17 85,373,709 (GRCm39) missense probably damaging 1.00
IGL01633:Prepl APN 17 85,379,444 (GRCm39) missense probably benign 0.03
IGL01730:Prepl APN 17 85,388,603 (GRCm39) missense possibly damaging 0.82
IGL02728:Prepl APN 17 85,378,010 (GRCm39) missense probably damaging 1.00
R0126:Prepl UTSW 17 85,390,670 (GRCm39) missense probably benign 0.19
R0243:Prepl UTSW 17 85,372,466 (GRCm39) splice site probably null
R1071:Prepl UTSW 17 85,377,940 (GRCm39) missense probably damaging 1.00
R1437:Prepl UTSW 17 85,395,785 (GRCm39) missense probably damaging 1.00
R1638:Prepl UTSW 17 85,379,509 (GRCm39) missense probably benign 0.04
R1892:Prepl UTSW 17 85,395,878 (GRCm39) missense possibly damaging 0.82
R1967:Prepl UTSW 17 85,395,979 (GRCm39) start codon destroyed probably null 0.99
R4196:Prepl UTSW 17 85,388,582 (GRCm39) missense probably benign
R4632:Prepl UTSW 17 85,390,659 (GRCm39) missense probably benign 0.00
R4895:Prepl UTSW 17 85,388,494 (GRCm39) missense probably damaging 1.00
R4932:Prepl UTSW 17 85,385,932 (GRCm39) missense possibly damaging 0.66
R4969:Prepl UTSW 17 85,395,902 (GRCm39) missense probably benign 0.00
R5954:Prepl UTSW 17 85,372,077 (GRCm39) missense probably benign 0.04
R6259:Prepl UTSW 17 85,377,859 (GRCm39) missense probably damaging 1.00
R6273:Prepl UTSW 17 85,390,696 (GRCm39) missense probably benign 0.00
R7176:Prepl UTSW 17 85,376,454 (GRCm39) missense probably benign 0.14
R7273:Prepl UTSW 17 85,389,420 (GRCm39) missense probably benign 0.10
R7291:Prepl UTSW 17 85,388,668 (GRCm39) missense probably benign 0.26
R8229:Prepl UTSW 17 85,388,689 (GRCm39) missense probably benign 0.00
R8940:Prepl UTSW 17 85,376,354 (GRCm39) missense probably damaging 0.98
R9017:Prepl UTSW 17 85,376,366 (GRCm39) missense possibly damaging 0.61
R9158:Prepl UTSW 17 85,383,379 (GRCm39) missense possibly damaging 0.82
R9608:Prepl UTSW 17 85,376,321 (GRCm39) missense probably benign 0.02
Z1177:Prepl UTSW 17 85,388,511 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGTTCACCCACTACGCTTGG -3'
(R):5'- TGCCTGCATGAAAAGTATAACCATC -3'

Sequencing Primer
(F):5'- GACGAACTTTAAGGATCCTGGTCTC -3'
(R):5'- TCCTAAGAAGCGAAGACTTTCC -3'
Posted On 2015-10-08