Incidental Mutation 'R8431:Ctsr'
ID 653770
Institutional Source Beutler Lab
Gene Symbol Ctsr
Ensembl Gene ENSMUSG00000055679
Gene Name cathepsin R
Synonyms
MMRRC Submission 067776-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R8431 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 61307029-61312002 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 61308304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 280 (L280R)
Ref Sequence ENSEMBL: ENSMUSP00000021889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021889]
AlphaFold Q9JIA9
Predicted Effect probably damaging
Transcript: ENSMUST00000021889
AA Change: L280R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021889
Gene: ENSMUSG00000055679
AA Change: L280R

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: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 A G 8: 124,694,873 (GRCm39) F273S Het
Abhd14b G T 9: 106,328,612 (GRCm39) A78S probably benign Het
Adamtsl5 G A 10: 80,181,228 (GRCm39) P51L probably benign Het
Adap1 A C 5: 139,259,180 (GRCm39) F336V probably benign Het
Ankrd33b T C 15: 31,305,248 (GRCm39) N172S probably damaging Het
Arhgap24 A G 5: 103,040,464 (GRCm39) E560G possibly damaging Het
Ascc2 A T 11: 4,614,227 (GRCm39) probably null Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Card6 A T 15: 5,129,758 (GRCm39) F546Y probably damaging Het
Cby3 T G 11: 50,250,084 (GRCm39) S2A probably damaging Het
Cct3 T C 3: 88,225,831 (GRCm39) S385P possibly damaging Het
Cfap65 C T 1: 74,967,203 (GRCm39) G249R probably benign Het
Cpne3 C A 4: 19,526,316 (GRCm39) A408S probably damaging Het
D930048N14Rik GGG GGGG 11: 51,541,946 (GRCm39) probably null Het
Dlg4 A G 11: 69,930,388 (GRCm39) I388V probably benign Het
Ednrb T A 14: 104,080,633 (GRCm39) I94F probably benign Het
Eftud2 C A 11: 102,737,062 (GRCm39) A573S probably benign Het
Fsip2 C A 2: 82,811,910 (GRCm39) P2743Q probably damaging Het
Gp2 C T 7: 119,042,010 (GRCm39) C505Y probably benign Het
Ier5 C A 1: 154,974,306 (GRCm39) D291Y probably benign Het
Ifi207 T C 1: 173,558,070 (GRCm39) I223V unknown Het
Ifi208 T C 1: 173,510,844 (GRCm39) V333A possibly damaging Het
Kank4 T C 4: 98,667,509 (GRCm39) I313V probably benign Het
Klhl7 T C 5: 24,343,473 (GRCm39) V263A possibly damaging Het
Klrg2 T C 6: 38,605,122 (GRCm39) D314G probably benign Het
Lrr1 T C 12: 69,225,470 (GRCm39) M382T possibly damaging Het
Ly6e A T 15: 74,830,190 (GRCm39) Q48L probably benign Het
Marchf6 C T 15: 31,505,892 (GRCm39) W43* probably null Het
Mepe A G 5: 104,486,047 (GRCm39) T396A possibly damaging Het
Myh8 T G 11: 67,174,440 (GRCm39) L229R possibly damaging Het
Ndufa10 C G 1: 92,379,732 (GRCm39) probably null Het
Nek1 C A 8: 61,487,066 (GRCm39) A272E possibly damaging Het
Nr1h2 T C 7: 44,199,767 (GRCm39) Y384C probably damaging Het
Or4c118 C A 2: 88,974,723 (GRCm39) V215F probably benign Het
Pcnx3 C T 19: 5,715,412 (GRCm39) G1946E probably damaging Het
Phf2 A G 13: 48,975,078 (GRCm39) F294S unknown Het
Polr3e A T 7: 120,530,528 (GRCm39) I173F probably damaging Het
Ppfia2 A T 10: 106,671,952 (GRCm39) R464* probably null Het
Ppp1r9a T A 6: 5,115,456 (GRCm39) S860T probably benign Het
Rnf144a T C 12: 26,377,300 (GRCm39) Y93C probably damaging Het
Ryr2 T C 13: 11,673,894 (GRCm39) E3390G probably benign Het
Scn7a T C 2: 66,534,164 (GRCm39) T504A possibly damaging Het
Slc26a5 T G 5: 22,018,904 (GRCm39) D645A probably damaging Het
Sp140l2 G A 1: 85,235,170 (GRCm39) H130Y probably benign Het
Ston2 T A 12: 91,615,071 (GRCm39) I446F probably damaging Het
Tcp11l1 G A 2: 104,530,314 (GRCm39) P57S probably damaging Het
Th G T 7: 142,446,801 (GRCm39) H488Q probably benign Het
Tmprss4 A T 9: 45,095,661 (GRCm39) I61N probably benign Het
Wdtc1 A G 4: 133,049,481 (GRCm39) probably null Het
Xpnpep1 T C 19: 52,983,937 (GRCm39) N596S 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
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
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'- GCTGACTTGCAACAGGAAAATTC -3'
(R):5'- GCACATAGACAAGTGTTTACCAAC -3'

Sequencing Primer
(F):5'- GGAAAATTCCTTCACTAATCCCCCTG -3'
(R):5'- AGACAAGTGTTTACCAACAAATAAAC -3'
Posted On 2020-10-20