Incidental Mutation 'IGL01595:Perp'
ID93386
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Perp
Ensembl Gene ENSMUSG00000019851
Gene NamePERP, TP53 apoptosis effector
Synonyms1110017A08Rik, KCP1, PIGPC1, KRTCAP1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.206) question?
Stock #IGL01595
Quality Score
Status
Chromosome10
Chromosomal Location18845020-18857073 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 18855659 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 122 (Q122R)
Ref Sequence ENSEMBL: ENSMUSP00000019998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019998]
Predicted Effect probably damaging
Transcript: ENSMUST00000019998
AA Change: Q122R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019998
Gene: ENSMUSG00000019851
AA Change: Q122R

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 14 169 1.1e-13 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous inactivation of this locus results in increased lethality during the postnatal period. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 A G 2: 23,078,169 M111V probably damaging Het
Adamts14 A T 10: 61,205,473 H819Q probably damaging Het
Adamts7 T A 9: 90,193,306 N1072K probably benign Het
Ahnak T A 19: 9,003,501 Y716* probably null Het
Arfgef3 T C 10: 18,594,912 K1702E possibly damaging Het
BB014433 C A 8: 15,042,499 probably null Het
Bdnf A T 2: 109,723,928 K176* probably null Het
C2cd5 C T 6: 143,018,022 R879H probably damaging Het
Capn11 T A 17: 45,639,434 H327L probably benign Het
Ccdc68 A G 18: 69,956,046 N220S probably benign Het
Cftr T C 6: 18,198,239 probably benign Het
Clca2 G A 3: 145,088,007 L296F probably damaging Het
Cubn A T 2: 13,325,216 L2618Q probably benign Het
Gfi1b A G 2: 28,611,417 probably null Het
Gpr37 G T 6: 25,669,573 T424N probably damaging Het
Kank3 G A 17: 33,819,180 probably null Het
Kcnh5 T C 12: 74,898,327 Q716R probably benign Het
Kntc1 G A 5: 123,803,695 M1817I probably benign Het
Krt79 T G 15: 101,931,771 E330A probably damaging Het
Mapk15 C A 15: 75,995,280 P82Q probably benign Het
Myh15 A T 16: 49,172,949 D1649V probably damaging Het
Myo1d T C 11: 80,676,110 I326V probably benign Het
Nek9 A T 12: 85,314,420 W504R probably damaging Het
Nlrp4c T A 7: 6,066,112 C337* probably null Het
Nup160 A G 2: 90,729,737 N1269D probably damaging Het
Olfr250 T C 9: 38,368,050 V168A probably benign Het
Olfr594 A G 7: 103,220,351 D211G probably damaging Het
Olfr661 T C 7: 104,688,078 M21T possibly damaging Het
Pde6a A G 18: 61,281,528 M36V probably damaging Het
S100a7a T C 3: 90,657,800 Y101H probably benign Het
Sbk2 C A 7: 4,957,713 V153L possibly damaging Het
Serpinb7 A T 1: 107,428,322 N25I probably damaging Het
Tbx5 A T 5: 119,840,838 D105V probably damaging Het
Trip6 T A 5: 137,313,413 T101S probably benign Het
Ush2a T A 1: 188,654,724 probably null Het
Other mutations in Perp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02934:Perp APN 10 18855772 missense probably damaging 0.98
R1195:Perp UTSW 10 18855735 nonsense probably null
R1195:Perp UTSW 10 18855735 nonsense probably null
R1195:Perp UTSW 10 18855735 nonsense probably null
R6329:Perp UTSW 10 18855754 missense probably damaging 1.00
R6329:Perp UTSW 10 18855755 missense probably damaging 1.00
Z1177:Perp UTSW 10 18855695 missense probably damaging 1.00
Posted On2013-12-09