Mutagenetix > Incidental Mutation

Incidental Mutation 'R5166:Gzmc'

397324

Institutional Source

Beutler Lab

Gene Symbol

Gzmc

Ensembl Gene

ENSMUSG00000079186

Gene Name

granzyme C

Synonyms

Ctla5, CCP2, Ctla-5

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R5166 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56468898-56472113 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 56471433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 36 (A36V)

Ref Sequence

ENSEMBL: ENSMUSP00000015585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015585]

AlphaFold

P08882

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: A36V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000015585
Gene: ENSMUSG00000079186
AA Change: A36V

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Tryp_SPc	20	241	2.05e-80	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	T	C	5: 121,738,083 (GRCm39)	T435A	probably benign	Het
Adcy3	T	A	12: 4,184,438 (GRCm39)	I38N	probably damaging	Het
Aff1	A	G	5: 103,902,523 (GRCm39)		probably benign	Het
Asxl1	A	G	2: 153,243,041 (GRCm39)	E1197G	probably damaging	Het
Brinp3	T	A	1: 146,777,105 (GRCm39)	N517K	probably damaging	Het
Carmil1	C	T	13: 24,338,966 (GRCm39)		probably null	Het
Ccdc185	G	A	1: 182,576,564 (GRCm39)	Q42*	probably null	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cdh10	A	G	15: 19,013,446 (GRCm39)	E682G	probably damaging	Het
Col6a3	C	A	1: 90,738,330 (GRCm39)	R456L	probably damaging	Het
Egf	C	T	3: 129,529,489 (GRCm39)	R307H	probably benign	Het
Flt4	T	C	11: 49,524,084 (GRCm39)		probably null	Het
Fstl5	A	C	3: 76,536,267 (GRCm39)	K26Q	possibly damaging	Het
Gk5	G	T	9: 96,056,821 (GRCm39)	A413S	probably damaging	Het
Glcci1	T	A	6: 8,537,854 (GRCm39)	S157R	probably benign	Het
Hexb	T	C	13: 97,318,512 (GRCm39)	N283S	probably benign	Het
Hydin	A	G	8: 111,249,774 (GRCm39)	E2239G	possibly damaging	Het
Igkv10-95	A	T	6: 68,657,544 (GRCm39)	Y20F	probably benign	Het
Il17re	A	G	6: 113,439,923 (GRCm39)	T181A	probably benign	Het
Kcnh6	G	A	11: 105,911,145 (GRCm39)	A514T	possibly damaging	Het
Kcnk10	G	A	12: 98,401,254 (GRCm39)	R460W	probably damaging	Het
Krtap5-2	A	T	7: 141,728,721 (GRCm39)	S320T	unknown	Het
Larp1b	G	T	3: 40,918,487 (GRCm39)	E24*	probably null	Het
Mettl22	A	G	16: 8,296,115 (GRCm39)	T135A	probably benign	Het
Mlh1	A	G	9: 111,070,581 (GRCm39)	V378A	probably benign	Het
Mmrn1	A	T	6: 60,953,474 (GRCm39)	H585L	probably benign	Het
Myh14	A	G	7: 44,278,279 (GRCm39)	F1024L	probably damaging	Het
Nbea	A	T	3: 55,926,874 (GRCm39)	H776Q	probably damaging	Het
Nod2	A	G	8: 89,390,875 (GRCm39)	D372G	possibly damaging	Het
Nptn	C	T	9: 58,526,263 (GRCm39)	R137*	probably null	Het
Or9k2	T	C	10: 129,998,430 (GRCm39)	Y255C	possibly damaging	Het
Pm20d2	C	T	4: 33,181,803 (GRCm39)	V267I	probably benign	Het
Rassf10	A	G	7: 112,553,627 (GRCm39)	D76G	probably benign	Het
Rbbp5	A	G	1: 132,418,303 (GRCm39)	T41A	possibly damaging	Het
Rttn	T	C	18: 89,031,218 (GRCm39)	V643A	possibly damaging	Het
Sbno2	C	A	10: 79,902,762 (GRCm39)	E421*	probably null	Het
Slc17a3	T	C	13: 24,026,525 (GRCm39)		probably null	Het
Slc1a6	T	A	10: 78,632,103 (GRCm39)		probably null	Het
Slco2b1	A	G	7: 99,338,220 (GRCm39)	S106P	possibly damaging	Het
Spef1	T	C	2: 131,016,511 (GRCm39)	N28S	probably damaging	Het
Srebf2	C	A	15: 82,069,603 (GRCm39)	T675N	probably damaging	Het
Srp68	C	A	11: 116,156,300 (GRCm39)	E147D	probably damaging	Het
Tbcd	T	A	11: 121,500,216 (GRCm39)	L1114H	possibly damaging	Het
Tex15	T	C	8: 34,066,420 (GRCm39)	V1950A	probably benign	Het
Tnfsf9	T	A	17: 57,413,263 (GRCm39)	F148Y	possibly damaging	Het
Traf6	A	G	2: 101,520,402 (GRCm39)	D150G	probably benign	Het
Ttn	A	G	2: 76,693,717 (GRCm39)	Y262H	possibly damaging	Het
Unc93b1	A	G	19: 3,994,027 (GRCm39)	Y386C	probably damaging	Het
Vmn1r226	A	T	17: 20,908,125 (GRCm39)	E119V	probably benign	Het
Wrn	A	T	8: 33,842,100 (GRCm39)		probably null	Het
Zfp398	A	G	6: 47,842,838 (GRCm39)	I165V	probably benign	Het
Zfp850	A	T	7: 27,689,781 (GRCm39)	C142*	probably null	Het

Other mutations in Gzmc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02132:Gzmc	APN	14	56,471,422 (GRCm39)	missense	probably benign	0.03
IGL02552:Gzmc	APN	14	56,472,039 (GRCm39)	start codon destroyed	probably null
IGL02974:Gzmc	APN	14	56,471,451 (GRCm39)	missense	probably damaging	1.00
IGL03408:Gzmc	APN	14	56,471,473 (GRCm39)	missense	probably damaging	0.98
R0133:Gzmc	UTSW	14	56,469,754 (GRCm39)	missense	possibly damaging	0.90
R0366:Gzmc	UTSW	14	56,470,193 (GRCm39)	nonsense	probably null
R1533:Gzmc	UTSW	14	56,471,376 (GRCm39)	missense	probably damaging	1.00
R1551:Gzmc	UTSW	14	56,470,203 (GRCm39)	missense	probably damaging	1.00
R1634:Gzmc	UTSW	14	56,469,737 (GRCm39)	missense	possibly damaging	0.66
R1686:Gzmc	UTSW	14	56,471,341 (GRCm39)	missense	probably benign	0.00
R2398:Gzmc	UTSW	14	56,470,228 (GRCm39)	missense	possibly damaging	0.93
R4730:Gzmc	UTSW	14	56,469,089 (GRCm39)	missense	probably damaging	1.00
R4971:Gzmc	UTSW	14	56,469,826 (GRCm39)	missense	probably damaging	0.97
R4987:Gzmc	UTSW	14	56,468,997 (GRCm39)	missense	probably damaging	0.99
R6237:Gzmc	UTSW	14	56,471,486 (GRCm39)	critical splice acceptor site	probably null
R7494:Gzmc	UTSW	14	56,469,785 (GRCm39)	nonsense	probably null
R7846:Gzmc	UTSW	14	56,469,017 (GRCm39)	missense	probably damaging	1.00
R7849:Gzmc	UTSW	14	56,469,829 (GRCm39)	missense	probably benign
R8183:Gzmc	UTSW	14	56,470,164 (GRCm39)	missense	probably damaging	1.00
R9570:Gzmc	UTSW	14	56,469,042 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGCAACCCTGACTTCTAGTGAG -3'
(R):5'- TCAGCCAGGATTATTCTATGTGC -3'

Sequencing Primer
(F):5'- TGACTTCTAGTGAGCCCTCAGG -3'
(R):5'- TGTGCAAGGAATCCAGTCTTC -3'

Posted On

2016-07-06