Incidental Mutation 'R0032:Ctsg'
ID 15273
Institutional Source Beutler Lab
Gene Symbol Ctsg
Ensembl Gene ENSMUSG00000040314
Gene Name cathepsin G
Synonyms
MMRRC Submission 038326-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R0032 (G1) of strain 731
Quality Score
Status Validated
Chromosome 14
Chromosomal Location 56337342-56340031 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 56339196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 21 (I21F)
Ref Sequence ENSEMBL: ENSMUSP00000015583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015583]
AlphaFold P28293
Predicted Effect probably damaging
Transcript: ENSMUST00000015583
AA Change: I21F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000015583
Gene: ENSMUSG00000040314
AA Change: I21F

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Tryp_SPc 20 238 5.65e-83 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225312
Meta Mutation Damage Score 0.8633 question?
Coding Region Coverage
  • 1x: 80.9%
  • 3x: 73.4%
  • 10x: 52.4%
  • 20x: 32.5%
Validation Efficiency 94% (87/93)
MGI Phenotype FUNCTION: This gene encodes a member of the peptidase S1 (chymotrypsin) family of serine endopeptidases. The encoded preproprotein is proteolytically processed to generate a mature protein product. This product appears to play a role in host defense, including inflammation and antigen processing. Homozygous knockout mice for this gene exhibit enhanced susceptibility to bacterial and fungal infection. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased susceptibility to bacterial infection induced mortality but increased susceptibility to mortality induced by fungal infection. Mice either homozygous or heterozygous for a knock-in allele develop an abrupt onset, rapidly fatal acute leukemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 T A 10: 106,959,156 (GRCm39) T97S probably benign Het
Adcy1 T C 11: 7,094,729 (GRCm39) S552P possibly damaging Het
C2cd3 T A 7: 100,093,652 (GRCm39) probably benign Het
Cd86 A T 16: 36,441,235 (GRCm39) S77R probably damaging Het
Cfap54 C T 10: 92,768,559 (GRCm39) R188H probably benign Het
Cpne8 T A 15: 90,453,771 (GRCm39) probably benign Het
Cyp2j9 T G 4: 96,457,043 (GRCm39) N476T possibly damaging Het
Dcaf4 G A 12: 83,582,762 (GRCm39) probably benign Het
Dennd4c T C 4: 86,746,387 (GRCm39) probably null Het
Dicer1 A T 12: 104,671,057 (GRCm39) L995* probably null Het
Dnah10 A G 5: 124,877,955 (GRCm39) K2623R possibly damaging Het
Dnajc21 G T 15: 10,461,963 (GRCm39) T146K probably benign Het
Dnmbp A C 19: 43,891,158 (GRCm39) L203R probably damaging Het
Eif4g1 C T 16: 20,504,648 (GRCm39) S829F probably damaging Het
Enkur T C 2: 21,194,115 (GRCm39) I153V probably benign Het
Erf T C 7: 24,944,500 (GRCm39) Y277C possibly damaging Het
Fcsk G A 8: 111,618,735 (GRCm39) T341M possibly damaging Het
Fstl5 T A 3: 76,555,742 (GRCm39) probably benign Het
Grm3 A G 5: 9,561,452 (GRCm39) probably null Het
Il11ra1 A G 4: 41,768,187 (GRCm39) E366G probably damaging Het
Ipo8 A G 6: 148,712,209 (GRCm39) C261R probably damaging Het
Itga11 T C 9: 62,681,377 (GRCm39) F998L probably benign Het
Krt74 T A 15: 101,669,887 (GRCm39) noncoding transcript Het
Me2 T G 18: 73,927,596 (GRCm39) M219L probably benign Het
Mlh3 A G 12: 85,292,523 (GRCm39) probably benign Het
Nfx1 T A 4: 41,015,321 (GRCm39) V842E probably benign Het
Oma1 T A 4: 103,223,209 (GRCm39) S465T possibly damaging Het
Opa1 A T 16: 29,433,887 (GRCm39) H574L probably damaging Het
Pcsk5 T C 19: 17,542,179 (GRCm39) N804S possibly damaging Het
Pde4a C A 9: 21,112,728 (GRCm39) probably benign Het
Pilra T A 5: 137,829,527 (GRCm39) D179V probably damaging Het
Piwil1 G A 5: 128,820,344 (GRCm39) S247N probably benign Het
Prss58 T G 6: 40,872,633 (GRCm39) T158P probably benign Het
Slc35e3 T C 10: 117,580,837 (GRCm39) M156V probably benign Het
Slit2 G A 5: 48,414,198 (GRCm39) R938Q probably damaging Het
Syt8 T C 7: 141,992,926 (GRCm39) V152A probably benign Het
Tppp2 G T 14: 52,156,866 (GRCm39) R81L possibly damaging Het
Trpc3 A G 3: 36,698,405 (GRCm39) I618T probably damaging Het
Zc3h4 T A 7: 16,168,565 (GRCm39) D891E unknown Het
Zfp120 A T 2: 149,959,512 (GRCm39) V270E possibly damaging Het
Other mutations in Ctsg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02441:Ctsg APN 14 56,339,869 (GRCm39) missense probably benign
IGL03092:Ctsg APN 14 56,337,417 (GRCm39) makesense probably null
R0032:Ctsg UTSW 14 56,339,196 (GRCm39) missense probably damaging 1.00
R1777:Ctsg UTSW 14 56,338,058 (GRCm39) missense probably damaging 1.00
R5141:Ctsg UTSW 14 56,339,184 (GRCm39) nonsense probably null
R6376:Ctsg UTSW 14 56,339,110 (GRCm39) nonsense probably null
R7097:Ctsg UTSW 14 56,337,489 (GRCm39) missense probably damaging 0.98
R7508:Ctsg UTSW 14 56,337,998 (GRCm39) critical splice donor site probably null
Posted On 2012-12-17