Incidental Mutation 'IGL03408:Gzmc'
ID421662
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gzmc
Ensembl Gene ENSMUSG00000079186
Gene Namegranzyme C
SynonymsCCP2, Ctla5, Ctla-5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL03408
Quality Score
Status
Chromosome14
Chromosomal Location56231441-56234656 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 56234016 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 23 (G23R)
Ref Sequence ENSEMBL: ENSMUSP00000015585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015585]
PDB Structure
Structure of GrC [X-RAY DIFFRACTION]
Structure of GrC mutant E192R/E193G [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000015585
AA Change: G23R

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000015585
Gene: ENSMUSG00000079186
AA Change: G23R

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Tryp_SPc 20 241 2.05e-80 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate a mature protein product. This product, expressed by activated T cells, may induce apoptosis of target cells. This gene is present in a gene cluster with other members of the granzyme subfamily on chromosome 14. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730559C18Rik T C 1: 136,214,405 Y652C probably benign Het
Abca12 A T 1: 71,264,795 F2108I probably damaging Het
Aco2 T C 15: 81,899,223 probably null Het
Ccdc186 T C 19: 56,798,731 K602E probably benign Het
Ccdc85a T A 11: 28,576,528 H360L probably damaging Het
Cited2 A G 10: 17,724,400 H152R possibly damaging Het
Cluh C A 11: 74,665,953 R940S probably benign Het
Corin T A 5: 72,342,961 Y432F probably benign Het
Creb1 A G 1: 64,576,332 probably null Het
Dhx15 A T 5: 52,160,312 D568E probably damaging Het
Esam G T 9: 37,534,653 R162S possibly damaging Het
Fat3 T A 9: 15,997,957 K2250* probably null Het
Fbxl17 G A 17: 63,080,546 R133* probably null Het
Gm11639 T A 11: 104,710,621 S253R probably benign Het
Idh3a A G 9: 54,596,922 N189D probably benign Het
Il31ra A T 13: 112,525,888 D462E probably benign Het
Inpp5j G A 11: 3,502,809 A147V possibly damaging Het
Kalrn G A 16: 34,314,176 A412V probably damaging Het
Lrp1b A G 2: 40,858,582 V2968A probably damaging Het
Morc1 G A 16: 48,442,412 G42R probably damaging Het
Notch4 T C 17: 34,565,568 L85P probably benign Het
Olfr1263 G A 2: 90,015,571 V214M probably benign Het
Olfr498 A T 7: 108,465,347 N8Y probably damaging Het
Parp4 T A 14: 56,602,408 H524Q probably damaging Het
Pole T C 5: 110,294,560 F285L probably damaging Het
Scn9a A G 2: 66,526,747 M1070T probably benign Het
Slc25a32 G A 15: 39,100,030 A132V probably benign Het
Sult2a2 T G 7: 13,738,229 I117S probably damaging Het
Suv39h2 T C 2: 3,459,876 N183S probably damaging Het
Trhr2 G A 8: 122,358,795 T150M probably damaging Het
Usp34 T A 11: 23,446,957 F614I possibly damaging Het
Vmn2r17 A G 5: 109,429,372 probably benign Het
Wfdc2 T A 2: 164,563,363 C61* probably null Het
Zfp384 T C 6: 125,035,713 S377P probably damaging Het
Zfp945 A T 17: 22,852,537 Y150* probably null Het
Other mutations in Gzmc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02132:Gzmc APN 14 56233965 missense probably benign 0.03
IGL02552:Gzmc APN 14 56234582 start codon destroyed probably null
IGL02974:Gzmc APN 14 56233994 missense probably damaging 1.00
R0133:Gzmc UTSW 14 56232297 missense possibly damaging 0.90
R0366:Gzmc UTSW 14 56232736 nonsense probably null
R1533:Gzmc UTSW 14 56233919 missense probably damaging 1.00
R1551:Gzmc UTSW 14 56232746 missense probably damaging 1.00
R1634:Gzmc UTSW 14 56232280 missense possibly damaging 0.66
R1686:Gzmc UTSW 14 56233884 missense probably benign 0.00
R2398:Gzmc UTSW 14 56232771 missense possibly damaging 0.93
R4730:Gzmc UTSW 14 56231632 missense probably damaging 1.00
R4971:Gzmc UTSW 14 56232369 missense probably damaging 0.97
R4987:Gzmc UTSW 14 56231540 missense probably damaging 0.99
R5166:Gzmc UTSW 14 56233976 missense probably damaging 1.00
R6237:Gzmc UTSW 14 56234029 critical splice acceptor site probably null
R7494:Gzmc UTSW 14 56232328 nonsense probably null
R7846:Gzmc UTSW 14 56231560 missense probably damaging 1.00
R7849:Gzmc UTSW 14 56232372 missense probably benign
R7929:Gzmc UTSW 14 56231560 missense probably damaging 1.00
R7932:Gzmc UTSW 14 56232372 missense probably benign
Posted On2016-08-02