Incidental Mutation 'R4179:Ctsb'
ID 319654
Institutional Source Beutler Lab
Gene Symbol Ctsb
Ensembl Gene ENSMUSG00000021939
Gene Name cathepsin B
Synonyms CB
MMRRC Submission 041015-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.499) question?
Stock # R4179 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 63359911-63383372 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 63370901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 38 (N38D)
Ref Sequence ENSEMBL: ENSMUSP00000006235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006235]
AlphaFold P10605
Predicted Effect probably benign
Transcript: ENSMUST00000006235
AA Change: N38D

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000006235
Gene: ENSMUSG00000021939
AA Change: N38D

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Propeptide_C1 26 65 5.4e-22 PFAM
Pept_C1 80 329 1.12e-97 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225540
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the peptidase C1 family and preproprotein that is proteolytically processed to generate multiple protein products. These products include the cathepsin B light and heavy chains, which can dimerize to generate the double chain form of the enzyme. This enzyme is a lysosomal cysteine protease with both endopeptidase and exopeptidase activity that may play a role in protein turnover. Homozygous knockout mice for this gene exhibit reduced pancreatic damage following induced pancreatitis and reduced hepatocyte apoptosis in a model of liver injury. Pseudogenes of this gene have been identified in the genome. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for targeted null mutations are born normal without gross abnormalities. Homozygous mutant has resistance to induced pancreatitis. In combination with Ctsltm1Cptr, double homozygous mutant shows postnatal lethality due to wide neuronal degeneration in brain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 44,104,128 (GRCm39) M506V probably benign Het
Ano1 A T 7: 144,204,242 (GRCm39) M290K probably damaging Het
Arrdc2 A T 8: 71,289,821 (GRCm39) L34Q probably damaging Het
Cdadc1 G T 14: 59,829,935 (GRCm39) T77N probably benign Het
Cmtr2 C G 8: 110,947,669 (GRCm39) probably null Het
Cnot2 A T 10: 116,334,048 (GRCm39) V374E possibly damaging Het
Crnn T C 3: 93,054,120 (GRCm39) M1T probably null Het
Dock10 A C 1: 80,488,134 (GRCm39) S2010A probably benign Het
Dqx1 A G 6: 83,036,460 (GRCm39) T155A probably benign Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Eci1 T C 17: 24,655,251 (GRCm39) W119R probably damaging Het
Foxo1 C A 3: 52,252,840 (GRCm39) D334E probably benign Het
Gck T C 11: 5,860,295 (GRCm39) T116A probably benign Het
Gcn1 T C 5: 115,726,109 (GRCm39) V588A probably benign Het
Gm7168 A G 17: 14,169,265 (GRCm39) I211V probably benign Het
Idh3g A T X: 72,825,610 (GRCm39) probably null Het
Jag1 A G 2: 136,943,578 (GRCm39) F206S probably damaging Het
Loxl3 G A 6: 83,014,565 (GRCm39) V158I probably benign Het
Ly6g A G 15: 75,027,567 (GRCm39) probably null Het
Myo1b A G 1: 51,817,685 (GRCm39) F532L probably damaging Het
Naip1 T A 13: 100,562,684 (GRCm39) N827I probably damaging Het
Nlrp9c G A 7: 26,084,086 (GRCm39) H498Y possibly damaging Het
Or10d1b A G 9: 39,613,387 (GRCm39) I226T probably benign Het
Pak2 C G 16: 31,871,005 (GRCm39) G59A probably benign Het
Pcdha2 T A 18: 37,074,529 (GRCm39) L720Q probably damaging Het
Pcdhb9 T A 18: 37,534,168 (GRCm39) M54K probably benign Het
Pde2a A G 7: 101,130,590 (GRCm39) *71W probably null Het
Pkd2l1 T C 19: 44,180,620 (GRCm39) N32D probably benign Het
Pkhd1l1 A C 15: 44,387,045 (GRCm39) Y1306S probably benign Het
Plec T C 15: 76,064,415 (GRCm39) K1953R possibly damaging Het
Plekhg4 T A 8: 106,108,030 (GRCm39) V1029E possibly damaging Het
Prkd1 C A 12: 50,413,231 (GRCm39) G647C probably damaging Het
Ptch1 C T 13: 63,682,143 (GRCm39) R537H probably damaging Het
Qser1 A G 2: 104,606,729 (GRCm39) I1510T probably benign Het
Ranbp3l T C 15: 9,057,279 (GRCm39) I314T possibly damaging Het
Rgs9 C A 11: 109,172,274 (GRCm39) probably null Het
Riok1 T C 13: 38,232,931 (GRCm39) F216L probably damaging Het
Rrm1 T A 7: 102,106,405 (GRCm39) I308N probably damaging Het
Serpina1f A T 12: 103,658,179 (GRCm39) M242K probably benign Het
Smox G A 2: 131,366,770 (GRCm39) M576I possibly damaging Het
Spaca7 A T 8: 12,636,435 (GRCm39) N87I probably damaging Het
Spink5 A T 18: 44,120,934 (GRCm39) Q296L probably benign Het
Sspo T C 6: 48,475,329 (GRCm39) probably null Het
Sult2b1 T A 7: 45,384,735 (GRCm39) I114F probably damaging Het
Tex12 T C 9: 50,470,587 (GRCm39) probably null Het
Tonsl A G 15: 76,508,675 (GRCm39) L26P probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Tsen54 T C 11: 115,711,678 (GRCm39) V365A probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Usp47 T C 7: 111,687,091 (GRCm39) L683P probably damaging Het
Wdr18 T C 10: 79,800,875 (GRCm39) L146P probably damaging Het
Zfp709 A G 8: 72,643,750 (GRCm39) Y392C probably damaging Het
Zranb3 A T 1: 127,888,601 (GRCm39) I828N possibly damaging Het
Other mutations in Ctsb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Ctsb APN 14 63,373,099 (GRCm39) missense probably damaging 0.99
IGL02565:Ctsb APN 14 63,375,859 (GRCm39) missense probably null 1.00
IGL03011:Ctsb APN 14 63,370,806 (GRCm39) missense probably benign 0.13
R0001:Ctsb UTSW 14 63,373,071 (GRCm39) missense probably benign 0.00
R1226:Ctsb UTSW 14 63,379,189 (GRCm39) missense probably damaging 1.00
R1241:Ctsb UTSW 14 63,376,553 (GRCm39) missense probably benign 0.28
R1533:Ctsb UTSW 14 63,376,544 (GRCm39) missense probably damaging 1.00
R6042:Ctsb UTSW 14 63,379,305 (GRCm39) missense probably damaging 1.00
R6396:Ctsb UTSW 14 63,375,550 (GRCm39) missense probably benign 0.04
R7422:Ctsb UTSW 14 63,379,752 (GRCm39) missense probably benign 0.00
R7472:Ctsb UTSW 14 63,375,550 (GRCm39) missense probably benign 0.04
R7573:Ctsb UTSW 14 63,375,550 (GRCm39) missense probably benign 0.04
R7721:Ctsb UTSW 14 63,370,765 (GRCm39) splice site probably benign
R8498:Ctsb UTSW 14 63,370,881 (GRCm39) missense probably benign 0.13
R9184:Ctsb UTSW 14 63,375,544 (GRCm39) missense probably damaging 1.00
R9229:Ctsb UTSW 14 63,373,112 (GRCm39) missense probably damaging 1.00
R9287:Ctsb UTSW 14 63,370,875 (GRCm39) missense probably benign 0.41
R9472:Ctsb UTSW 14 63,379,186 (GRCm39) missense probably damaging 1.00
R9665:Ctsb UTSW 14 63,370,917 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CTTCACAGTGAGGCCAGAAAGG -3'
(R):5'- TGCACACAACATGGAGACTG -3'

Sequencing Primer
(F):5'- AGTCATGCCCGTGTGTAGAAATC -3'
(R):5'- TGGAGAGCAATCCATGGTGTG -3'
Posted On 2015-06-10