Incidental Mutation 'IGL00647:Ctsr'
ID 12559
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctsr
Ensembl Gene ENSMUSG00000055679
Gene Name cathepsin R
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL00647
Quality Score
Status
Chromosome 13
Chromosomal Location 61307029-61312002 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 61310556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 63 (N63S)
Ref Sequence ENSEMBL: ENSMUSP00000021889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021889]
AlphaFold Q9JIA9
Predicted Effect probably damaging
Transcript: ENSMUST00000021889
AA Change: N63S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021889
Gene: ENSMUSG00000055679
AA Change: N63S

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Inhibitor_I29 29 88 1.68e-21 SMART
Pept_C1 115 333 1.59e-111 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C9 C A 15: 6,512,564 (GRCm39) H229N probably benign Het
Gmfb C T 14: 47,054,838 (GRCm39) probably null Het
Itsn2 T C 12: 4,663,311 (GRCm39) probably benign Het
Mfap5 G A 6: 122,502,975 (GRCm39) V62M probably damaging Het
Mmp2 A G 8: 93,557,312 (GRCm39) T73A probably benign Het
Prss40 T C 1: 34,591,620 (GRCm39) T352A probably benign Het
Rag2 A G 2: 101,460,962 (GRCm39) D424G probably benign Het
Slc3a1 T A 17: 85,371,233 (GRCm39) V595D probably damaging Het
Tomm22 T A 15: 79,556,099 (GRCm39) F27I probably damaging Het
Tshr A G 12: 91,504,274 (GRCm39) E404G probably damaging Het
Zfp518a C T 19: 40,903,130 (GRCm39) P1020S probably damaging Het
Other mutations in Ctsr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Ctsr APN 13 61,310,489 (GRCm39) splice site probably benign
IGL02169:Ctsr APN 13 61,311,054 (GRCm39) splice site probably benign
IGL02516:Ctsr APN 13 61,310,992 (GRCm39) missense probably benign
IGL02739:Ctsr APN 13 61,309,658 (GRCm39) missense probably benign 0.01
PIT4687001:Ctsr UTSW 13 61,308,346 (GRCm39) missense possibly damaging 0.52
R0180:Ctsr UTSW 13 61,310,559 (GRCm39) missense probably damaging 1.00
R1938:Ctsr UTSW 13 61,310,259 (GRCm39) missense probably benign 0.00
R2362:Ctsr UTSW 13 61,310,610 (GRCm39) missense probably damaging 1.00
R3856:Ctsr UTSW 13 61,309,750 (GRCm39) missense possibly damaging 0.75
R4125:Ctsr UTSW 13 61,309,659 (GRCm39) missense probably benign 0.17
R4135:Ctsr UTSW 13 61,309,084 (GRCm39) missense probably benign 0.15
R4903:Ctsr UTSW 13 61,310,945 (GRCm39) missense probably benign 0.01
R5551:Ctsr UTSW 13 61,307,357 (GRCm39) missense probably damaging 1.00
R5705:Ctsr UTSW 13 61,309,078 (GRCm39) missense probably damaging 1.00
R5721:Ctsr UTSW 13 61,309,667 (GRCm39) missense possibly damaging 0.84
R6132:Ctsr UTSW 13 61,309,582 (GRCm39) critical splice donor site probably null
R6196:Ctsr UTSW 13 61,308,345 (GRCm39) missense probably benign 0.09
R6719:Ctsr UTSW 13 61,308,265 (GRCm39) missense possibly damaging 0.60
R7530:Ctsr UTSW 13 61,310,931 (GRCm39) missense probably damaging 1.00
R7698:Ctsr UTSW 13 61,310,381 (GRCm39) missense probably benign 0.01
R7963:Ctsr UTSW 13 61,310,276 (GRCm39) missense probably damaging 1.00
R8251:Ctsr UTSW 13 61,310,592 (GRCm39) missense probably damaging 1.00
R8431:Ctsr UTSW 13 61,308,304 (GRCm39) missense probably damaging 1.00
R8810:Ctsr UTSW 13 61,309,639 (GRCm39) missense probably damaging 1.00
R9464:Ctsr UTSW 13 61,307,295 (GRCm39) missense possibly damaging 0.46
R9572:Ctsr UTSW 13 61,310,978 (GRCm39) missense probably benign
Posted On 2012-12-06