Incidental Mutation 'R5721:Ctsr'
ID 451455
Institutional Source Beutler Lab
Gene Symbol Ctsr
Ensembl Gene ENSMUSG00000055679
Gene Name cathepsin R
Synonyms
MMRRC Submission 043189-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R5721 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 61307029-61312002 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 61309667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 181 (G181S)
Ref Sequence ENSEMBL: ENSMUSP00000021889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021889]
AlphaFold Q9JIA9
Predicted Effect possibly damaging
Transcript: ENSMUST00000021889
AA Change: G181S

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021889
Gene: ENSMUSG00000055679
AA Change: G181S

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A T 15: 84,844,798 (GRCm39) V30D probably damaging Het
Atl3 T A 19: 7,506,376 (GRCm39) M302K probably benign Het
Ccdc91 C G 6: 147,477,001 (GRCm39) L230V unknown Het
Ciz1 C T 2: 32,266,052 (GRCm39) T39I probably damaging Het
Cog8 T C 8: 107,776,780 (GRCm39) T532A probably benign Het
Drc7 T C 8: 95,800,961 (GRCm39) probably null Het
Dvl2 A G 11: 69,896,819 (GRCm39) R238G possibly damaging Het
Faf1 T C 4: 109,792,863 (GRCm39) F612L probably benign Het
Fbxo40 T A 16: 36,789,296 (GRCm39) M605L probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gprc6a A T 10: 51,491,076 (GRCm39) M716K probably benign Het
Greb1l G A 18: 10,542,427 (GRCm39) E1341K probably damaging Het
Ift70a1 A T 2: 75,811,715 (GRCm39) Y123N probably damaging Het
Jcad A T 18: 4,676,044 (GRCm39) T1269S possibly damaging Het
Kif23 C G 9: 61,851,498 (GRCm39) G66A probably benign Het
Lrrd1 T C 5: 3,900,619 (GRCm39) M308T probably benign Het
Lsg1 C T 16: 30,380,593 (GRCm39) A615T probably benign Het
Mcph1 G A 8: 18,721,223 (GRCm39) V684M probably damaging Het
Mpv17l T C 16: 13,764,658 (GRCm39) Y62H probably damaging Het
Or10a5 T C 7: 106,635,565 (GRCm39) S68P probably damaging Het
Or13d1 G T 4: 52,971,068 (GRCm39) W149L probably damaging Het
Osgepl1 A T 1: 53,360,359 (GRCm39) M362L possibly damaging Het
P2ry14 T C 3: 59,022,452 (GRCm39) probably null Het
Pacsin3 T A 2: 91,094,580 (GRCm39) C402S probably damaging Het
Papss2 A G 19: 32,638,064 (GRCm39) Y392C probably damaging Het
Plekha8 T A 6: 54,590,091 (GRCm39) W19R probably damaging Het
Prdm15 A T 16: 97,608,296 (GRCm39) I667N possibly damaging Het
Rab11fip2 A G 19: 59,924,042 (GRCm39) S279P probably damaging Het
Slc6a20b C A 9: 123,441,054 (GRCm39) G131C probably null Het
Suox T C 10: 128,507,162 (GRCm39) I289V possibly damaging Het
Tbc1d16 C T 11: 119,049,556 (GRCm39) probably null Het
Tmem269 T C 4: 119,067,146 (GRCm39) T146A probably benign Het
Ttn G A 2: 76,558,911 (GRCm39) R29657W probably damaging Het
Vmn1r84 C A 7: 12,096,153 (GRCm39) C168F probably damaging Het
Zc3h7b T C 15: 81,657,499 (GRCm39) F180L probably benign Het
Zfand4 C G 6: 116,264,956 (GRCm39) D140E probably damaging 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
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'- AAATTGTACCCTGAAGATGGTGG -3'
(R):5'- GTCTGATATCTCCAAGGAATCAATC -3'

Sequencing Primer
(F):5'- CCCTGAAGATGGTGGATTATCTCTAC -3'
(R):5'- AGTTTTCTAACTTGTTGCCAGG -3'
Posted On 2017-01-03