Incidental Mutation 'R7963:Ctsr'
ID 650234
Institutional Source Beutler Lab
Gene Symbol Ctsr
Ensembl Gene ENSMUSG00000055679
Gene Name cathepsin R
Synonyms
MMRRC Submission 046006-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R7963 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 61307029-61312002 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 61310276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 127 (V127L)
Ref Sequence ENSEMBL: ENSMUSP00000021889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021889]
AlphaFold Q9JIA9
Predicted Effect probably damaging
Transcript: ENSMUST00000021889
AA Change: V127L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021889
Gene: ENSMUSG00000055679
AA Change: V127L

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A G 13: 77,340,673 (GRCm39) K101E probably benign Het
4930407I10Rik A G 15: 81,948,137 (GRCm39) K678R possibly damaging Het
Akr1b10 G C 6: 34,364,643 (GRCm39) A35P possibly damaging Het
Arhgef10l T C 4: 140,306,736 (GRCm39) E106G probably damaging Het
Atp9a T C 2: 168,516,732 (GRCm39) Y445C probably damaging Het
Btbd18 T C 2: 84,498,239 (GRCm39) S626P probably benign Het
Cdh23 A T 10: 60,171,967 (GRCm39) N1738K probably damaging Het
Cdv3 T C 9: 103,241,210 (GRCm39) D119G probably damaging Het
Cep295 A G 9: 15,244,737 (GRCm39) F1240L possibly damaging Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Dlg1 G A 16: 31,609,119 (GRCm39) R271Q probably null Het
Dnaaf11 A T 15: 66,252,366 (GRCm39) D433E probably damaging Het
Dnajc1 G A 2: 18,227,535 (GRCm39) T377I possibly damaging Het
F2rl3 T C 8: 73,489,333 (GRCm39) Y187H probably damaging Het
Fgf1 A T 18: 38,980,167 (GRCm39) V69E probably damaging Het
Garem1 T C 18: 21,281,844 (GRCm39) K171E probably damaging Het
H3c13 C A 3: 96,176,309 (GRCm39) Y100* probably null Het
Il2ra G A 2: 11,679,235 (GRCm39) R65H probably benign Het
Lrp1b T C 2: 40,817,947 (GRCm39) I2428V Het
Lrp3 G A 7: 34,902,404 (GRCm39) Q579* probably null Het
Ncoa6 G A 2: 155,247,916 (GRCm39) T1796I probably benign Het
Ncor1 T C 11: 62,225,359 (GRCm39) I747V probably benign Het
Nfkb2 C T 19: 46,298,358 (GRCm39) T554M possibly damaging Het
Nrde2 T C 12: 100,116,127 (GRCm39) D119G probably damaging Het
Odf2 C A 2: 29,816,112 (GRCm39) Q720K probably benign Het
Or4c52 T C 2: 89,846,003 (GRCm39) V243A possibly damaging Het
Or4k41 T A 2: 111,279,971 (GRCm39) L162Q possibly damaging Het
Or5w1b C T 2: 87,475,769 (GRCm39) E233K probably benign Het
Or8k33 T C 2: 86,383,639 (GRCm39) I276M possibly damaging Het
Pcx T C 19: 4,652,034 (GRCm39) V94A probably damaging Het
Pdxdc1 A T 16: 13,694,030 (GRCm39) Y131N possibly damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Plod2 A G 9: 92,487,499 (GRCm39) H606R probably benign Het
Ptp4a2 A G 4: 129,733,237 (GRCm39) probably benign Het
Rsl1 A G 13: 67,330,173 (GRCm39) E207G probably damaging Het
Slc28a3 A G 13: 58,724,580 (GRCm39) Y225H probably damaging Het
Spag17 T A 3: 99,929,954 (GRCm39) M551K probably benign Het
Ssh2 C A 11: 77,312,182 (GRCm39) A231D possibly damaging Het
Stab2 A G 10: 86,683,887 (GRCm39) probably null Het
Stac2 T C 11: 97,932,403 (GRCm39) T197A probably benign Het
Syne2 T A 12: 76,067,174 (GRCm39) L4291Q probably benign Het
Vmn2r38 A T 7: 9,095,854 (GRCm39) D179E probably benign Het
Zfp597 T C 16: 3,689,022 (GRCm39) D51G probably benign Het
Zfp64 A T 2: 168,793,538 (GRCm39) F69L probably benign Het
Other mutations in Ctsr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00647:Ctsr APN 13 61,310,556 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GATTGATTCCTTGGAGATATCAGAC -3'
(R):5'- GATTGCTTCACACTGTGCTC -3'

Sequencing Primer
(F):5'- GCTCTAGTCATGGCCATATACATG -3'
(R):5'- GCTCTCATTAGTACTTTATAAGGTGG -3'
Posted On 2020-09-15