Incidental Mutation 'R2362:Ctsr'
ID 247195
Institutional Source Beutler Lab
Gene Symbol Ctsr
Ensembl Gene ENSMUSG00000055679
Gene Name cathepsin R
Synonyms
MMRRC Submission 040343-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R2362 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 61307029-61312002 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 61310610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 45 (E45V)
Ref Sequence ENSEMBL: ENSMUSP00000021889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021889]
AlphaFold Q9JIA9
Predicted Effect probably damaging
Transcript: ENSMUST00000021889
AA Change: E45V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021889
Gene: ENSMUSG00000055679
AA Change: E45V

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
Meta Mutation Damage Score 0.9515 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency 100% (35/35)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630073D07Rik A T 6: 132,604,442 (GRCm39) M1K probably null Het
Aadat A G 8: 60,985,332 (GRCm39) probably benign Het
Acsm5 T C 7: 119,127,649 (GRCm39) probably benign Het
Avl9 A T 6: 56,713,555 (GRCm39) N271I probably benign Het
Ccdc30 T A 4: 119,181,253 (GRCm39) N636I probably damaging Het
Cdr2 T G 7: 120,569,554 (GRCm39) I62L possibly damaging Het
Ceacam23 T G 7: 17,636,398 (GRCm39) noncoding transcript Het
Clk3 T C 9: 57,661,902 (GRCm39) I382V possibly damaging Het
Cyp2b19 A G 7: 26,463,802 (GRCm39) Y318C probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dapk1 A G 13: 60,878,745 (GRCm39) N578S probably damaging Het
Dlg5 A T 14: 24,208,755 (GRCm39) M817K probably benign Het
Dtx4 A G 19: 12,469,899 (GRCm39) V76A probably damaging Het
Eps15 T C 4: 109,218,427 (GRCm39) V430A probably benign Het
Fhip2b A G 14: 70,823,805 (GRCm39) Y568H probably benign Het
Fxyd5 T C 7: 30,735,896 (GRCm39) N104S probably benign Het
Ift122 A G 6: 115,861,311 (GRCm39) D193G probably damaging Het
Lrrcc1 A G 3: 14,628,084 (GRCm39) E542G probably damaging Het
Macc1 T C 12: 119,411,393 (GRCm39) probably benign Het
Ndst3 T A 3: 123,346,327 (GRCm39) Y234F possibly damaging Het
Or5b120 A T 19: 13,479,872 (GRCm39) H55L probably damaging Het
Pes1 T C 11: 3,927,123 (GRCm39) F429S probably damaging Het
Polr3e C G 7: 120,541,787 (GRCm39) D623E probably damaging Het
Rapgef6 T C 11: 54,585,098 (GRCm39) Y1494H probably damaging Het
Rbm14 T C 19: 4,851,735 (GRCm39) probably benign Het
Rnf103 A G 6: 71,487,001 (GRCm39) D544G probably benign Het
Slc10a7 A G 8: 79,236,261 (GRCm39) I20V probably damaging Het
Sort1 C T 3: 108,253,981 (GRCm39) T549I possibly damaging Het
Stambpl1 G A 19: 34,213,754 (GRCm39) V328I probably benign Het
Thbd A G 2: 148,248,284 (GRCm39) L528P probably damaging Het
Wbp11 A T 6: 136,801,330 (GRCm39) M63K probably damaging Het
Wdr11 T A 7: 129,236,560 (GRCm39) I1178N 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
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
Predicted Primers PCR Primer
(F):5'- CCTCTCTGTGAGTCCAAACTG -3'
(R):5'- CAACCACTGGTAGAACAGGGTG -3'

Sequencing Primer
(F):5'- CTGAATTCTTCATCAGTCTTCAAGG -3'
(R):5'- AACAGGGTGGTCAGATTCCC -3'
Posted On 2014-10-30