Incidental Mutation 'IGL02696:Ctso'
ID 303951
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctso
Ensembl Gene ENSMUSG00000028015
Gene Name cathepsin O
Synonyms A330105D01Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02696
Quality Score
Status
Chromosome 3
Chromosomal Location 81839908-81864032 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 81858691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 220 (D220A)
Ref Sequence ENSEMBL: ENSMUSP00000029649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029649]
AlphaFold Q8BM88
Predicted Effect possibly damaging
Transcript: ENSMUST00000029649
AA Change: D220A

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029649
Gene: ENSMUSG00000028015
AA Change: D220A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pept_C1 99 311 2.21e-69 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155144
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the cathepsin family of cysteine proteases that are involved in the degradation of cellular proteins. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional enzyme. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A G 14: 29,704,628 (GRCm39) T43A probably benign Het
Adgrd1 T C 5: 129,217,918 (GRCm39) probably benign Het
Asxl1 T A 2: 153,242,115 (GRCm39) Y888* probably null Het
Atp8b5 T C 4: 43,369,634 (GRCm39) V924A possibly damaging Het
AU040320 T C 4: 126,736,380 (GRCm39) L821P probably damaging Het
Capn11 T C 17: 45,943,635 (GRCm39) N596S probably damaging Het
Cnot1 C A 8: 96,471,645 (GRCm39) V1219F probably benign Het
Cope T C 8: 70,763,143 (GRCm39) probably null Het
Crim1 A G 17: 78,587,402 (GRCm39) E169G probably damaging Het
Csmd3 A T 15: 47,533,065 (GRCm39) F2395I probably benign Het
Cttnbp2 G A 6: 18,434,128 (GRCm39) P577S probably benign Het
D930048N14Rik T A 11: 51,544,821 (GRCm39) probably benign Het
Dck T A 5: 88,920,666 (GRCm39) S129T probably damaging Het
Dlc1 A G 8: 37,041,326 (GRCm39) V1301A possibly damaging Het
Dusp16 G A 6: 134,695,398 (GRCm39) R478C probably damaging Het
Ermap C T 4: 119,044,904 (GRCm39) R49K possibly damaging Het
Flnc A G 6: 29,446,697 (GRCm39) K969R probably damaging Het
Gjb2 A T 14: 57,337,769 (GRCm39) F146L probably damaging Het
Hdc A T 2: 126,436,220 (GRCm39) D550E probably damaging Het
Hs6st3 A T 14: 120,106,731 (GRCm39) I380F probably damaging Het
Htr1d T C 4: 136,170,722 (GRCm39) V317A probably benign Het
Kalrn A T 16: 34,040,484 (GRCm39) M963K probably damaging Het
Kl T A 5: 150,904,450 (GRCm39) S401T probably benign Het
Lair1 A G 7: 4,013,848 (GRCm39) probably benign Het
Lrp5 C T 19: 3,652,253 (GRCm39) V1206I probably benign Het
Matn4 A G 2: 164,238,758 (GRCm39) F343S probably benign Het
Mrgpra4 G T 7: 47,631,251 (GRCm39) R117S possibly damaging Het
Myh14 T C 7: 44,314,530 (GRCm39) Y131C probably damaging Het
Nap1l4 A T 7: 143,077,898 (GRCm39) N345K possibly damaging Het
Oas1c T C 5: 120,943,528 (GRCm39) R204G probably benign Het
Or52e4 A G 7: 104,705,569 (GRCm39) T39A probably benign Het
Or8k25 T A 2: 86,243,959 (GRCm39) T146S probably benign Het
Pakap T A 4: 57,854,663 (GRCm39) D58E probably damaging Het
Pin1 G A 9: 20,574,531 (GRCm39) G150E probably benign Het
R3hdm2 T C 10: 127,300,888 (GRCm39) probably null Het
Rai1 C A 11: 60,084,782 (GRCm39) H1843Q probably benign Het
Siae G T 9: 37,542,680 (GRCm39) A194S probably damaging Het
Slc6a12 G T 6: 121,340,211 (GRCm39) V485L probably benign Het
Stil T G 4: 114,898,692 (GRCm39) S1107R probably damaging Het
Syt16 T C 12: 74,176,185 (GRCm39) V18A possibly damaging Het
Trpm8 A G 1: 88,275,773 (GRCm39) D457G probably damaging Het
Tshr A T 12: 91,460,103 (GRCm39) T66S possibly damaging Het
Ttn T A 2: 76,537,639 (GRCm39) Q34763L probably benign Het
Ubr2 T A 17: 47,274,691 (GRCm39) M830L probably benign Het
Ulk1 A G 5: 110,940,918 (GRCm39) F337S probably damaging Het
Other mutations in Ctso
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02619:Ctso APN 3 81,848,836 (GRCm39) splice site probably benign
R0309:Ctso UTSW 3 81,852,168 (GRCm39) critical splice acceptor site probably null
R0357:Ctso UTSW 3 81,858,850 (GRCm39) splice site probably benign
R2511:Ctso UTSW 3 81,840,041 (GRCm39) missense probably damaging 0.97
R3740:Ctso UTSW 3 81,859,556 (GRCm39) missense probably benign 0.00
R3741:Ctso UTSW 3 81,859,556 (GRCm39) missense probably benign 0.00
R3742:Ctso UTSW 3 81,859,556 (GRCm39) missense probably benign 0.00
R4771:Ctso UTSW 3 81,840,047 (GRCm39) missense probably benign
R4801:Ctso UTSW 3 81,861,547 (GRCm39) missense probably damaging 0.99
R4802:Ctso UTSW 3 81,861,547 (GRCm39) missense probably damaging 0.99
R4875:Ctso UTSW 3 81,849,688 (GRCm39) intron probably benign
R5891:Ctso UTSW 3 81,861,561 (GRCm39) missense probably benign 0.02
R6755:Ctso UTSW 3 81,849,609 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16