Incidental Mutation 'R3741:Ctso'
ID270360
Institutional Source Beutler Lab
Gene Symbol Ctso
Ensembl Gene ENSMUSG00000028015
Gene Namecathepsin O
Synonyms
MMRRC Submission 040727-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R3741 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location81932601-81956725 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 81952249 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 288 (V288I)
Ref Sequence ENSEMBL: ENSMUSP00000029649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029645] [ENSMUST00000029649]
Predicted Effect probably benign
Transcript: ENSMUST00000029645
SMART Domains Protein: ENSMUSP00000029645
Gene: ENSMUSG00000028011

DomainStartEndE-ValueType
Pfam:Trp_dioxygenase 26 372 8e-177 PFAM
low complexity region 393 406 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000029649
AA Change: V288I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000029649
Gene: ENSMUSG00000028015
AA Change: V288I

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pept_C1 99 311 2.21e-69 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155144
Meta Mutation Damage Score 0.3424 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 97% (37/38)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aspm T C 1: 139,478,619 V1748A possibly damaging Het
Atp10b A T 11: 43,235,662 S1082C probably damaging Het
Atp8b2 C G 3: 89,946,031 A726P probably benign Het
B4galt3 C A 1: 171,274,043 H196N probably damaging Het
Bbip1 T C 19: 53,932,175 M1V probably null Het
Bbox1 A G 2: 110,305,577 I19T possibly damaging Het
Bclaf3 T A X: 159,551,832 H41Q probably benign Het
Ctsm T A 13: 61,539,627 Q107L probably benign Het
Cyp2a4 A C 7: 26,308,544 K125N probably damaging Het
Dapk1 T C 13: 60,748,200 S701P probably benign Het
Dnah1 A G 14: 31,265,467 probably benign Het
Dnah11 A G 12: 118,131,341 M718T probably benign Het
Dnah2 C A 11: 69,448,469 A3071S probably damaging Het
Epb41l4a A T 18: 33,828,102 probably null Het
Fam135a A T 1: 24,014,811 M1215K probably damaging Het
Gm6489 T A 1: 31,287,683 noncoding transcript Het
Hhipl1 A G 12: 108,318,717 Y443C probably damaging Het
Hoxc13 G A 15: 102,921,438 G84D possibly damaging Het
Ifi207 T C 1: 173,727,562 I851M probably damaging Het
Lipk T G 19: 34,021,707 L134R probably damaging Het
Mov10l1 A G 15: 89,012,142 N678D possibly damaging Het
Msrb3 A T 10: 120,784,214 F67I probably damaging Het
Myo1a A G 10: 127,714,898 D593G probably benign Het
Nsf C T 11: 103,930,752 E26K possibly damaging Het
Nup210l A T 3: 90,207,394 M1759L probably benign Het
Optn C A 2: 5,034,198 M371I possibly damaging Het
Rims1 A T 1: 22,373,443 V380D probably damaging Het
Rnf148 A G 6: 23,654,065 C311R possibly damaging Het
Rrp12 T C 19: 41,885,728 D377G probably damaging Het
Sbp T A 17: 23,945,582 probably benign Het
Sipa1 T C 19: 5,654,857 E570G probably damaging Het
Spem2 T C 11: 69,816,730 R470G possibly damaging Het
Syngr4 T C 7: 45,895,770 E5G possibly damaging Het
Tmem88b A G 4: 155,785,427 L59P probably damaging Het
Ttn T A 2: 76,790,359 K13995* probably null Het
Vmn1r69 A G 7: 10,580,142 Y221H possibly damaging Het
Zfp386 T A 12: 116,059,550 L296* probably null Het
Other mutations in Ctso
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02619:Ctso APN 3 81941529 splice site probably benign
IGL02696:Ctso APN 3 81951384 missense possibly damaging 0.63
R0309:Ctso UTSW 3 81944861 critical splice acceptor site probably null
R0357:Ctso UTSW 3 81951543 splice site probably benign
R2511:Ctso UTSW 3 81932734 missense probably damaging 0.97
R3740:Ctso UTSW 3 81952249 missense probably benign 0.00
R3742:Ctso UTSW 3 81952249 missense probably benign 0.00
R4771:Ctso UTSW 3 81932740 missense probably benign
R4801:Ctso UTSW 3 81954240 missense probably damaging 0.99
R4802:Ctso UTSW 3 81954240 missense probably damaging 0.99
R4875:Ctso UTSW 3 81942381 intron probably benign
R5891:Ctso UTSW 3 81954254 missense probably benign 0.02
R6755:Ctso UTSW 3 81942302 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AAGTTTATGGAGCTGCCTGC -3'
(R):5'- TGGGGAAGTTTAATAACCTAGATGG -3'

Sequencing Primer
(F):5'- GAGCTGCCTGCAGAAAATAATTTGC -3'
(R):5'- TTTCTCATTAACAGGATAAGCAACC -3'
Posted On2015-03-18