Incidental Mutation 'R2403:Cts3'
ID 248834
Institutional Source Beutler Lab
Gene Symbol Cts3
Ensembl Gene ENSMUSG00000074870
Gene Name cathepsin 3
Synonyms 1600000I23Rik
MMRRC Submission 040369-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R2403 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 61712444-61717941 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61712806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 305 (W305R)
Ref Sequence ENSEMBL: ENSMUSP00000153399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054702] [ENSMUST00000223815] [ENSMUST00000224855] [ENSMUST00000225902]
AlphaFold Q91ZD5
Predicted Effect probably damaging
Transcript: ENSMUST00000054702
AA Change: W305R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058359
Gene: ENSMUSG00000074870
AA Change: W305R

DomainStartEndE-ValueType
Inhibitor_I29 29 88 2.48e-24 SMART
Pept_C1 114 331 1.33e-95 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000223815
AA Change: W305R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224050
Predicted Effect probably benign
Transcript: ENSMUST00000224855
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224967
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225515
Predicted Effect probably benign
Transcript: ENSMUST00000225902
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,964,592 (GRCm39) E925G probably damaging Het
Abca9 T G 11: 110,006,280 (GRCm39) Q1275P probably benign Het
Adgrl1 T A 8: 84,657,870 (GRCm39) M492K probably benign Het
Ankrd50 T A 3: 38,537,234 (GRCm39) K3* probably null Het
Arl5b T C 2: 15,079,848 (GRCm39) S140P probably damaging Het
Armc1 T C 3: 19,211,840 (GRCm39) probably benign Het
Ascc1 T C 10: 59,840,663 (GRCm39) I8T probably benign Het
Bche A G 3: 73,608,805 (GRCm39) V207A probably damaging Het
Cacna2d3 A G 14: 28,627,259 (GRCm39) L1080P probably benign Het
Ceacam3 C A 7: 16,895,779 (GRCm39) A583D probably damaging Het
Cep290 C T 10: 100,373,299 (GRCm39) A1193V probably benign Het
Clcn1 T C 6: 42,290,046 (GRCm39) I827T probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col28a1 T C 6: 8,175,641 (GRCm39) D69G possibly damaging Het
Dmwd T C 7: 18,815,084 (GRCm39) I578T possibly damaging Het
Dnmt3a G A 12: 3,949,883 (GRCm39) V559M probably damaging Het
Dysf T C 6: 84,016,549 (GRCm39) V70A possibly damaging Het
Eml6 A G 11: 29,752,434 (GRCm39) V993A probably benign Het
Etl4 T A 2: 20,812,117 (GRCm39) L1768* probably null Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
Fat3 T G 9: 15,881,167 (GRCm39) D3235A probably damaging Het
Fbxo36 T A 1: 84,877,823 (GRCm39) F162I probably damaging Het
Fgfrl1 T C 5: 108,852,897 (GRCm39) W200R probably damaging Het
Fsip2 T C 2: 82,811,064 (GRCm39) M2461T possibly damaging Het
Fut1 A G 7: 45,268,643 (GRCm39) Y144C probably benign Het
Gprin3 G A 6: 59,331,134 (GRCm39) A391V probably benign Het
H2-Q4 A G 17: 35,598,973 (GRCm39) E81G probably damaging Het
Hacd3 A G 9: 64,908,311 (GRCm39) S162P probably damaging Het
Itga1 A T 13: 115,114,150 (GRCm39) H918Q probably benign Het
Lrp5 C A 19: 3,647,430 (GRCm39) D1271Y probably damaging Het
Lsm8 C T 6: 18,849,643 (GRCm39) T17I probably benign Het
Mup4 T A 4: 59,958,145 (GRCm39) D141V probably damaging Het
Nckap5 G A 1: 125,955,146 (GRCm39) H405Y probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or12k8 T C 2: 36,974,986 (GRCm39) Y258C probably benign Het
Ostf1 T C 19: 18,562,026 (GRCm39) K190R probably benign Het
Pnldc1 A T 17: 13,118,777 (GRCm39) V197E probably damaging Het
Ptprc A G 1: 138,016,270 (GRCm39) S531P probably damaging Het
Ryr3 C T 2: 112,516,973 (GRCm39) E3318K probably damaging Het
Scamp2 T C 9: 57,484,995 (GRCm39) V67A possibly damaging Het
Serpina3g C A 12: 104,207,421 (GRCm39) L195M probably damaging Het
Siglec1 G T 2: 130,916,395 (GRCm39) T1185N possibly damaging Het
Sycp2 G A 2: 178,045,528 (GRCm39) Q31* probably null Het
Tmprss15 T G 16: 78,854,578 (GRCm39) T277P probably damaging Het
Trim34b C T 7: 103,978,876 (GRCm39) S41L probably benign Het
Ttn T C 2: 76,557,705 (GRCm39) T21507A possibly damaging Het
Umad1 T C 6: 8,427,161 (GRCm39) V138A possibly damaging Het
Zfp523 A G 17: 28,414,183 (GRCm39) I72M probably damaging Het
Zfp655 C T 5: 145,181,356 (GRCm39) R405C probably benign Het
Zfp715 G A 7: 42,948,692 (GRCm39) R423C possibly damaging Het
Other mutations in Cts3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Cts3 APN 13 61,715,988 (GRCm39) missense probably damaging 0.98
IGL02662:Cts3 APN 13 61,715,871 (GRCm39) missense probably damaging 1.00
R0455:Cts3 UTSW 13 61,716,024 (GRCm39) unclassified probably benign
R1673:Cts3 UTSW 13 61,715,368 (GRCm39) nonsense probably null
R1793:Cts3 UTSW 13 61,715,967 (GRCm39) missense probably benign 0.00
R3897:Cts3 UTSW 13 61,712,800 (GRCm39) missense probably benign 0.04
R4012:Cts3 UTSW 13 61,715,868 (GRCm39) critical splice donor site probably null
R4052:Cts3 UTSW 13 61,716,535 (GRCm39) missense probably benign 0.27
R4669:Cts3 UTSW 13 61,714,637 (GRCm39) missense probably benign 0.01
R4907:Cts3 UTSW 13 61,714,634 (GRCm39) missense probably benign 0.01
R5121:Cts3 UTSW 13 61,715,409 (GRCm39) missense probably benign 0.09
R5572:Cts3 UTSW 13 61,712,782 (GRCm39) missense probably damaging 0.99
R5774:Cts3 UTSW 13 61,716,184 (GRCm39) missense probably damaging 1.00
R5796:Cts3 UTSW 13 61,716,517 (GRCm39) missense probably damaging 1.00
R5797:Cts3 UTSW 13 61,716,206 (GRCm39) missense probably damaging 1.00
R6159:Cts3 UTSW 13 61,714,655 (GRCm39) missense probably damaging 1.00
R6226:Cts3 UTSW 13 61,716,535 (GRCm39) missense probably benign 0.27
R7346:Cts3 UTSW 13 61,715,434 (GRCm39) missense probably benign 0.00
R7642:Cts3 UTSW 13 61,716,589 (GRCm39) missense probably benign 0.02
R7948:Cts3 UTSW 13 61,713,863 (GRCm39) missense probably benign 0.04
R8060:Cts3 UTSW 13 61,714,580 (GRCm39) missense probably damaging 1.00
R9127:Cts3 UTSW 13 61,715,235 (GRCm39) nonsense probably null
R9145:Cts3 UTSW 13 61,712,800 (GRCm39) missense probably benign 0.04
R9218:Cts3 UTSW 13 61,716,583 (GRCm39) missense possibly damaging 0.74
R9707:Cts3 UTSW 13 61,714,649 (GRCm39) missense possibly damaging 0.95
R9717:Cts3 UTSW 13 61,712,799 (GRCm39) missense probably benign 0.00
Z1177:Cts3 UTSW 13 61,716,561 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTCAGTGACTGCAGTGTCTC -3'
(R):5'- GACACAATCATTATTTCTGAGCCAC -3'

Sequencing Primer
(F):5'- AGTGACTGCAGTGTCTCATATTCAC -3'
(R):5'- CATTATTTCTGAGCCACACATGTG -3'
Posted On 2014-11-11