Incidental Mutation 'R0366:Gzmc'
ID36436
Institutional Source Beutler Lab
Gene Symbol Gzmc
Ensembl Gene ENSMUSG00000079186
Gene Namegranzyme C
SynonymsCCP2, Ctla5, Ctla-5
MMRRC Submission 038572-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.038) question?
Stock #R0366 (G1)
Quality Score225
Status Validated
Chromosome14
Chromosomal Location56231441-56234656 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 56232736 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 101 (Y101*)
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 null
Transcript: ENSMUST00000015585
AA Change: Y101*
SMART Domains Protein: ENSMUSP00000015585
Gene: ENSMUSG00000079186
AA Change: Y101*

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Tryp_SPc 20 241 2.05e-80 SMART
Meta Mutation Damage Score 0.656 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.9%
Validation Efficiency 99% (68/69)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 G T 17: 46,324,798 S93* probably null Het
Ackr2 T C 9: 121,909,360 L267P probably damaging Het
Adgre4 T A 17: 55,792,001 L169* probably null Het
AI481877 A C 4: 59,099,410 M94R probably benign Het
Ankrd12 T A 17: 65,984,506 S1311C possibly damaging Het
Arid2 T A 15: 96,361,720 probably benign Het
Atp9b A T 18: 80,762,102 V747E probably damaging Het
Best1 T C 19: 9,992,053 probably null Het
Brwd1 C A 16: 96,037,964 E836* probably null Het
Cachd1 A G 4: 100,994,737 S1177G possibly damaging Het
Cacna1e C T 1: 154,416,138 E1766K probably benign Het
Cckar A G 5: 53,700,165 I301T probably benign Het
Cdc27 T G 11: 104,505,648 T816P probably damaging Het
Cep162 T G 9: 87,220,484 Q708H probably damaging Het
Cep250 C A 2: 155,988,401 D1301E probably benign Het
D430041D05Rik G A 2: 104,255,340 H955Y probably damaging Het
Dcdc2a T A 13: 25,056,434 V55E probably damaging Het
Efcab12 A G 6: 115,823,248 probably benign Het
Ep400 A G 5: 110,701,671 V1428A unknown Het
Erbb3 T C 10: 128,572,570 E825G possibly damaging Het
Evl A T 12: 108,686,048 probably null Het
Fuca2 G A 10: 13,505,763 R140H probably benign Het
Gm4969 T A 7: 19,107,039 I57F probably damaging Het
Gm5581 T C 6: 131,166,447 noncoding transcript Het
Gm7052 T C 17: 22,040,517 probably benign Het
Gpd1 T G 15: 99,719,270 I119S probably damaging Het
Hmcn2 G T 2: 31,424,206 A3588S possibly damaging Het
Ikbkb A G 8: 22,695,260 probably benign Het
Itgax G T 7: 128,149,089 probably benign Het
Kif24 C A 4: 41,428,717 S81I possibly damaging Het
Lct G A 1: 128,286,462 P1858S probably benign Het
Map2k1 C A 9: 64,193,702 probably null Het
Mdga1 A G 17: 29,857,708 V30A possibly damaging Het
Mtcl1 G A 17: 66,338,129 P1441L probably damaging Het
N4bp2 T A 5: 65,806,396 F596Y possibly damaging Het
Notch4 A T 17: 34,581,499 probably benign Het
Olfr1061 A G 2: 86,414,025 V9A possibly damaging Het
Olfr1259 A C 2: 89,943,818 V99G possibly damaging Het
Olfr167 A G 16: 19,514,848 S263P probably benign Het
Olfr802 A G 10: 129,681,971 M256T possibly damaging Het
Olfr907 T A 9: 38,499,154 C162S possibly damaging Het
Pbld2 A G 10: 63,053,957 probably benign Het
Phip T C 9: 82,926,407 Y505C probably damaging Het
Plcb2 A G 2: 118,724,447 F58L probably benign Het
Plcd1 T A 9: 119,081,136 I72F probably damaging Het
Ppp5c A T 7: 17,022,583 Y63* probably null Het
Prdm4 T C 10: 85,908,004 D129G probably damaging Het
Prkcq C A 2: 11,246,838 probably benign Het
Rab5b C T 10: 128,682,903 R120Q probably benign Het
Rab7b T A 1: 131,698,504 V90D probably damaging Het
Ripk3 T C 14: 55,786,835 T193A probably damaging Het
Rnf167 C T 11: 70,649,317 R88* probably null Het
Robo1 A G 16: 72,742,245 T59A possibly damaging Het
Scd2 G A 19: 44,301,246 V227I probably benign Het
Scg3 T A 9: 75,675,338 probably benign Het
Sec31a A T 5: 100,382,766 L677H probably damaging Het
Sema6a G A 18: 47,290,045 probably null Het
Setd7 T C 3: 51,550,320 T29A probably benign Het
Slc4a5 A G 6: 83,295,872 Y942C probably benign Het
Slit1 T A 19: 41,611,031 Y1027F probably damaging Het
Sptan1 G A 2: 29,992,752 probably null Het
Tdrd12 T C 7: 35,508,802 Q249R probably benign Het
Tmem171 T A 13: 98,692,228 D138V possibly damaging Het
Ttll10 G A 4: 156,035,155 R596W probably damaging Het
Usp53 G T 3: 122,949,201 N695K probably damaging Het
Vmn2r25 A T 6: 123,823,622 L587* probably null Het
Zglp1 C T 9: 21,063,379 C171Y probably benign 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
IGL03408:Gzmc APN 14 56234016 missense probably damaging 0.98
R0133:Gzmc UTSW 14 56232297 missense possibly damaging 0.90
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
Predicted Primers PCR Primer
(F):5'- TCCCCTGGCTTCACATGAGCATTG -3'
(R):5'- TGCCTAGATGCAAGAGTGAACCTCC -3'

Sequencing Primer
(F):5'- TGCTCTGGGTCACACTGAAAC -3'
(R):5'- AAGTCCCCTCAGCTACAGTTC -3'
Posted On2013-05-09