Incidental Mutation 'IGL02672:Tpp1'
ID 302963
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tpp1
Ensembl Gene ENSMUSG00000030894
Gene Name tripeptidyl peptidase I
Synonyms Cln2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02672
Quality Score
Status
Chromosome 7
Chromosomal Location 105394018-105401442 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105396168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 510 (H510Q)
Ref Sequence ENSEMBL: ENSMUSP00000033184 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033182] [ENSMUST00000033184] [ENSMUST00000149695] [ENSMUST00000210066] [ENSMUST00000141116] [ENSMUST00000163389]
AlphaFold O89023
Predicted Effect probably benign
Transcript: ENSMUST00000033182
SMART Domains Protein: ENSMUSP00000033182
Gene: ENSMUSG00000030890

DomainStartEndE-ValueType
ANK 33 62 4.71e-6 SMART
ANK 66 95 1.04e-7 SMART
ANK 99 128 1.02e-1 SMART
Pfam:Pkinase 193 445 1.5e-25 PFAM
Pfam:Pkinase_Tyr 193 446 7.2e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000033184
AA Change: H510Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033184
Gene: ENSMUSG00000030894
AA Change: H510Q

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pro-kuma_activ 32 176 4.53e-50 SMART
low complexity region 177 189 N/A INTRINSIC
Pfam:Peptidase_S8 251 492 1.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000054556
Predicted Effect probably benign
Transcript: ENSMUST00000127298
Predicted Effect probably benign
Transcript: ENSMUST00000130565
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131683
Predicted Effect probably benign
Transcript: ENSMUST00000149695
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211204
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211226
Predicted Effect probably benign
Transcript: ENSMUST00000210066
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210018
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152508
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210395
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210840
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146999
Predicted Effect probably benign
Transcript: ENSMUST00000141116
SMART Domains Protein: ENSMUSP00000118105
Gene: ENSMUSG00000043866

DomainStartEndE-ValueType
low complexity region 17 39 N/A INTRINSIC
low complexity region 45 91 N/A INTRINSIC
Pfam:TFIID_30kDa 128 177 6.1e-30 PFAM
low complexity region 181 192 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163389
SMART Domains Protein: ENSMUSP00000130341
Gene: ENSMUSG00000030890

DomainStartEndE-ValueType
ANK 33 62 4.71e-6 SMART
ANK 66 95 1.04e-7 SMART
ANK 99 128 1.02e-1 SMART
Pfam:Pkinase_Tyr 193 446 4e-39 PFAM
Pfam:Pkinase 195 445 3e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211560
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211659
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a lysosomal serine protease that cleaves N-terminal tripeptides from protein substrates. The encoded preproprotein undergoes autocatalytic processing to generate a mature enzyme. Mice lacking the encoded protein exhibit a progressive neurodegeneration and a greatly shortened lifespan. At the cellular level, mice lacking the encoded protein exhibit accumulation of autofluorescent lipopigments. Mutations in the human ortholog of this gene cause classical late-infantile neuronal ceroid lipofuscinosis. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for targeted mutations exhibit progressive motor defects, reduced lifespan, and respiratory difficulty. One mutation also shows extensive neuronal degeneration and an accumulation of lysosomal storage material. Mice homozygous for a different allele exhibit prenatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn C T 4: 156,259,018 (GRCm39) probably benign Het
Alpi A G 1: 87,028,994 (GRCm39) L60P probably damaging Het
Arpc1a A C 5: 145,041,697 (GRCm39) I327L probably damaging Het
Col5a1 C T 2: 27,864,727 (GRCm39) A737V unknown Het
Dcaf7 T C 11: 105,945,684 (GRCm39) probably benign Het
Dnah9 T G 11: 65,818,427 (GRCm39) I3304L probably benign Het
Dpp10 T A 1: 123,304,376 (GRCm39) H508L probably benign Het
Dync1i1 A G 6: 5,767,034 (GRCm39) D86G probably benign Het
Enpp7 T C 11: 118,883,166 (GRCm39) probably null Het
Fbxw9 C A 8: 85,792,682 (GRCm39) probably null Het
Foxred2 A G 15: 77,829,777 (GRCm39) probably null Het
Gas2l2 C T 11: 83,315,957 (GRCm39) R254H probably damaging Het
Gatad2b C T 3: 90,249,198 (GRCm39) L79F possibly damaging Het
Igf1r A T 7: 67,839,781 (GRCm39) D696V probably benign Het
Kcnk5 A G 14: 20,196,580 (GRCm39) I96T probably damaging Het
Lrrc8c C T 5: 105,755,224 (GRCm39) T333M possibly damaging Het
Mcm10 T C 2: 5,006,092 (GRCm39) T417A probably benign Het
Mesp2 T C 7: 79,461,145 (GRCm39) S157P probably benign Het
Naca A G 10: 127,876,152 (GRCm39) probably benign Het
Or5t17 A T 2: 86,832,417 (GRCm39) M35L probably benign Het
Osgepl1 A G 1: 53,359,270 (GRCm39) T260A probably benign Het
Otop1 T C 5: 38,435,170 (GRCm39) probably null Het
Pdk1 T C 2: 71,726,096 (GRCm39) S335P probably damaging Het
Phkb A G 8: 86,668,987 (GRCm39) N338S probably benign Het
Pogz G A 3: 94,763,410 (GRCm39) V61I probably benign Het
Ppp4r1 A G 17: 66,147,942 (GRCm39) Y928C probably damaging Het
Rab17 T C 1: 90,886,940 (GRCm39) E160G probably damaging Het
Rasgrp3 T A 17: 75,803,412 (GRCm39) F70Y probably benign Het
Rere T A 4: 150,594,483 (GRCm39) N364K unknown Het
Ryr1 A T 7: 28,703,944 (GRCm39) probably benign Het
Sae1 A G 7: 16,104,273 (GRCm39) V112A probably damaging Het
Serpinb6d C T 13: 33,855,372 (GRCm39) H349Y probably benign Het
Slc12a1 T C 2: 125,012,596 (GRCm39) V286A probably damaging Het
Smad3 A T 9: 63,575,009 (GRCm39) probably null Het
Sox8 T A 17: 25,787,963 (GRCm39) D162V probably damaging Het
Sptbn1 A G 11: 30,087,239 (GRCm39) F1067L probably damaging Het
Tmprss3 T C 17: 31,409,981 (GRCm39) Y211C probably damaging Het
Top2b T C 14: 16,409,166 (GRCm38) probably benign Het
Ugcg T A 4: 59,218,587 (GRCm39) probably benign Het
Vmn2r96 T A 17: 18,818,376 (GRCm39) I651N probably benign Het
Wdr25 A T 12: 108,864,007 (GRCm39) K51* probably null Het
Other mutations in Tpp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01480:Tpp1 APN 7 105,398,260 (GRCm39) missense probably damaging 1.00
IGL01520:Tpp1 APN 7 105,396,936 (GRCm39) missense probably benign 0.32
IGL01796:Tpp1 APN 7 105,396,857 (GRCm39) unclassified probably benign
IGL01797:Tpp1 APN 7 105,398,459 (GRCm39) missense probably benign 0.07
IGL01923:Tpp1 APN 7 105,400,857 (GRCm39) missense probably benign 0.34
IGL02400:Tpp1 APN 7 105,396,238 (GRCm39) missense possibly damaging 0.91
IGL02411:Tpp1 APN 7 105,398,826 (GRCm39) missense probably damaging 1.00
IGL02423:Tpp1 APN 7 105,398,907 (GRCm39) missense probably damaging 1.00
IGL03180:Tpp1 APN 7 105,395,856 (GRCm39) missense probably benign
R0709:Tpp1 UTSW 7 105,398,814 (GRCm39) missense probably benign 0.19
R0711:Tpp1 UTSW 7 105,398,626 (GRCm39) missense probably damaging 1.00
R1222:Tpp1 UTSW 7 105,395,948 (GRCm39) missense probably benign 0.05
R1673:Tpp1 UTSW 7 105,396,880 (GRCm39) missense probably damaging 0.99
R1799:Tpp1 UTSW 7 105,399,515 (GRCm39) missense probably benign 0.00
R1822:Tpp1 UTSW 7 105,398,854 (GRCm39) missense probably benign
R1984:Tpp1 UTSW 7 105,400,905 (GRCm39) missense probably benign 0.04
R2109:Tpp1 UTSW 7 105,399,177 (GRCm39) missense probably damaging 1.00
R4304:Tpp1 UTSW 7 105,399,516 (GRCm39) missense possibly damaging 0.70
R4618:Tpp1 UTSW 7 105,400,913 (GRCm39) missense probably benign 0.05
R4746:Tpp1 UTSW 7 105,398,158 (GRCm39) missense probably damaging 1.00
R4764:Tpp1 UTSW 7 105,398,458 (GRCm39) missense probably damaging 1.00
R4837:Tpp1 UTSW 7 105,395,856 (GRCm39) missense probably benign
R4855:Tpp1 UTSW 7 105,395,930 (GRCm39) missense probably benign
R5015:Tpp1 UTSW 7 105,401,232 (GRCm39) unclassified probably benign
R5677:Tpp1 UTSW 7 105,396,743 (GRCm39) missense probably damaging 1.00
R5916:Tpp1 UTSW 7 105,398,587 (GRCm39) missense probably damaging 0.97
R6149:Tpp1 UTSW 7 105,396,934 (GRCm39) missense probably benign 0.00
R6291:Tpp1 UTSW 7 105,396,223 (GRCm39) missense probably benign 0.05
R6422:Tpp1 UTSW 7 105,396,163 (GRCm39) missense probably benign 0.01
R6671:Tpp1 UTSW 7 105,398,814 (GRCm39) missense probably benign 0.19
R6841:Tpp1 UTSW 7 105,398,171 (GRCm39) missense probably damaging 0.96
R6851:Tpp1 UTSW 7 105,398,919 (GRCm39) missense probably damaging 1.00
R7022:Tpp1 UTSW 7 105,398,129 (GRCm39) missense probably damaging 1.00
R7106:Tpp1 UTSW 7 105,399,118 (GRCm39) missense possibly damaging 0.67
R7260:Tpp1 UTSW 7 105,396,704 (GRCm39) missense probably benign 0.00
R7485:Tpp1 UTSW 7 105,398,751 (GRCm39) missense probably damaging 1.00
R8185:Tpp1 UTSW 7 105,398,430 (GRCm39) critical splice donor site probably null
R8204:Tpp1 UTSW 7 105,399,522 (GRCm39) missense probably damaging 0.98
R8513:Tpp1 UTSW 7 105,398,786 (GRCm39) missense possibly damaging 0.93
R8863:Tpp1 UTSW 7 105,398,814 (GRCm39) missense probably benign 0.19
R8937:Tpp1 UTSW 7 105,396,626 (GRCm39) missense probably benign 0.00
R9003:Tpp1 UTSW 7 105,398,156 (GRCm39) missense probably benign 0.07
R9178:Tpp1 UTSW 7 105,400,846 (GRCm39) missense probably benign 0.00
R9352:Tpp1 UTSW 7 105,398,881 (GRCm39) missense probably benign 0.00
R9501:Tpp1 UTSW 7 105,398,464 (GRCm39) missense probably benign 0.11
R9597:Tpp1 UTSW 7 105,396,714 (GRCm39) missense probably benign
R9683:Tpp1 UTSW 7 105,398,104 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16