Incidental Mutation 'R1226:Ctsb'
ID 152247
Institutional Source Beutler Lab
Gene Symbol Ctsb
Ensembl Gene ENSMUSG00000021939
Gene Name cathepsin B
Synonyms CB
MMRRC Submission 039295-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.499) question?
Stock # R1226 (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 C at 63379189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 267 (Y267S)
Ref Sequence ENSEMBL: ENSMUSP00000006235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006235] [ENSMUST00000054963] [ENSMUST00000224625]
AlphaFold P10605
Predicted Effect probably damaging
Transcript: ENSMUST00000006235
AA Change: Y267S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006235
Gene: ENSMUSG00000021939
AA Change: Y267S

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 probably benign
Transcript: ENSMUST00000054963
SMART Domains Protein: ENSMUSP00000055313
Gene: ENSMUSG00000021273

DomainStartEndE-ValueType
Pfam:SQS_PSY 47 320 2.1e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224625
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225540
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.4%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Abcd2 G T 15: 91,075,246 (GRCm39) A189E probably benign Het
Ahcy T C 2: 154,906,817 (GRCm39) T159A probably benign Het
Arfgef2 T C 2: 166,669,560 (GRCm39) V84A probably damaging Het
Brwd1 G A 16: 95,832,748 (GRCm39) T1036M probably benign Het
Ccdc187 G T 2: 26,166,133 (GRCm39) S765R probably damaging Het
Cfap210 A G 2: 69,617,553 (GRCm39) M76T possibly damaging Het
Chd1l G A 3: 97,469,941 (GRCm39) R862* probably null Het
Crmp1 A G 5: 37,430,778 (GRCm39) D71G probably damaging Het
Ctif CTGTGTCCGGTGT CTGT 18: 75,654,650 (GRCm39) probably benign Het
Cyp4a12b T A 4: 115,290,164 (GRCm39) I239N possibly damaging Het
Dna2 T C 10: 62,796,203 (GRCm39) V544A possibly damaging Het
Dnhd1 T A 7: 105,346,106 (GRCm39) F2364Y probably damaging Het
Fsip2 A T 2: 82,811,355 (GRCm39) E2558V probably damaging Het
Gm10061 A C 16: 88,948,169 (GRCm39) Y48S unknown Het
Herc1 T A 9: 66,323,545 (GRCm39) M1353K probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lin7a T C 10: 107,107,780 (GRCm39) V20A probably benign Het
Lsr T A 7: 30,671,308 (GRCm39) I142F probably damaging Het
Mei1 C T 15: 81,964,285 (GRCm39) T275I possibly damaging Het
Mon2 A G 10: 122,838,724 (GRCm39) V1593A probably benign Het
Mrpl32 A G 13: 14,786,096 (GRCm39) I74T probably benign Het
Nek11 C T 9: 105,270,091 (GRCm39) V44I probably damaging Het
Noa1 A G 5: 77,455,402 (GRCm39) V438A possibly damaging Het
Or5an1c A C 19: 12,218,950 (GRCm39) I25R probably benign Het
Or7g16 C T 9: 18,727,266 (GRCm39) C108Y probably benign Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Pcdhb17 T C 18: 37,620,313 (GRCm39) L701P probably damaging Het
Pde11a G A 2: 75,988,698 (GRCm39) S481L probably benign Het
Prkdc T C 16: 15,491,861 (GRCm39) I602T possibly damaging Het
Ptprh T A 7: 4,606,091 (GRCm39) R3* probably null Het
Reln A G 5: 22,115,864 (GRCm39) L3048P probably damaging Het
Slc6a11 T A 6: 114,171,624 (GRCm39) I265N possibly damaging Het
Sorbs2 T C 8: 46,248,656 (GRCm39) S636P probably damaging Het
Supt5 T C 7: 28,028,172 (GRCm39) I44V probably benign Het
Tdrd6 T A 17: 43,937,523 (GRCm39) E1175V possibly damaging Het
Tnxb A C 17: 34,907,903 (GRCm39) T1316P probably damaging Het
Ufc1 A C 1: 171,116,810 (GRCm39) D119E probably benign Het
Vmn1r220 A G 13: 23,368,294 (GRCm39) F134S probably damaging Het
Zfp106 A G 2: 120,354,560 (GRCm39) S1404P probably damaging Het
Zfp866 A G 8: 70,218,940 (GRCm39) F227L probably damaging Het
Zfyve28 A T 5: 34,374,408 (GRCm39) H535Q probably benign 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
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
R4179:Ctsb UTSW 14 63,370,901 (GRCm39) missense probably benign 0.01
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'- CACCGAAGCTCCCTGATAAAGACTATG -3'
(R):5'- TATGATGCTCTGGCCCTTAGCTGC -3'

Sequencing Primer
(F):5'- ggagacccaacccaggac -3'
(R):5'- TGGCCCTTAGCTGCTTATG -3'
Posted On 2014-01-29