Mutagenetix > Incidental Mutation

Incidental Mutation 'R4971:Gzmc'

384469

Institutional Source

Beutler Lab

Gene Symbol

Gzmc

Ensembl Gene

ENSMUSG00000079186

Gene Name

granzyme C

Synonyms

Ctla5, CCP2, Ctla-5

MMRRC Submission

042566-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R4971 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56468898-56472113 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 56469826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 158 (P158Q)

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: P158Q

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000015585
Gene: ENSMUSG00000079186
AA Change: P158Q

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: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.7%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,524,190 (GRCm39)	F1147L	probably damaging	Het
Abca2	T	C	2: 25,332,006 (GRCm39)	S1373P	probably damaging	Het
Abca9	A	T	11: 110,042,874 (GRCm39)	S392T	probably benign	Het
Abcd2	T	C	15: 91,047,313 (GRCm39)	D580G	probably benign	Het
Actl9	T	A	17: 33,652,882 (GRCm39)	L314H	probably damaging	Het
Adamtsl1	T	C	4: 86,255,168 (GRCm39)	F746L	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Cdkl3	T	C	11: 51,901,995 (GRCm39)	V68A	possibly damaging	Het
Cnot1	A	G	8: 96,448,254 (GRCm39)	F2266S	probably damaging	Het
Colq	T	C	14: 31,267,034 (GRCm39)	R159G	probably damaging	Het
Ctse	A	T	1: 131,592,130 (GRCm39)	D152V	probably damaging	Het
Cul7	G	T	17: 46,970,045 (GRCm39)	M1011I	probably benign	Het
Cyb5r4	G	T	9: 86,939,224 (GRCm39)	V336L	possibly damaging	Het
Dync2h1	A	T	9: 7,131,949 (GRCm39)	H1619Q	probably benign	Het
Eif2ak1	A	G	5: 143,818,986 (GRCm39)	K216E	probably damaging	Het
F5	A	T	1: 164,021,755 (GRCm39)	H1410L	probably benign	Het
Frem2	T	C	3: 53,446,604 (GRCm39)	Y2388C	probably damaging	Het
Fsip2	C	T	2: 82,816,222 (GRCm39)	T3985M	probably benign	Het
Gak	T	C	5: 108,744,672 (GRCm39)	Y535C	probably damaging	Het
Hook3	A	G	8: 26,572,607 (GRCm39)	Y135H	probably benign	Het
Ikbke	GCC	G	1: 131,203,004 (GRCm39)		probably null	Het
Ing4	A	T	6: 125,020,961 (GRCm39)	M28L	probably benign	Het
Irs3	T	A	5: 137,642,754 (GRCm39)	D228V	probably damaging	Het
Jade1	T	A	3: 41,555,836 (GRCm39)	I301N	probably damaging	Het
Kif13b	T	A	14: 64,995,011 (GRCm39)	M921K	possibly damaging	Het
Kmt2c	A	G	5: 25,515,870 (GRCm39)	S2658P	probably benign	Het
Map3k4	A	G	17: 12,468,382 (GRCm39)		probably null	Het
Map4k5	C	T	12: 69,899,493 (GRCm39)	V53I	possibly damaging	Het
Mdn1	T	C	4: 32,739,827 (GRCm39)	S3694P	probably damaging	Het
Mroh7	A	G	4: 106,548,749 (GRCm39)	V1038A	probably benign	Het
Muc5ac	T	C	7: 141,370,015 (GRCm39)	V3185A	possibly damaging	Het
Mup5	T	A	4: 61,751,297 (GRCm39)	N117I	probably benign	Het
Myo19	T	A	11: 84,783,023 (GRCm39)	M179K	probably damaging	Het
Myo1c	A	G	11: 75,562,414 (GRCm39)	Y902C	probably damaging	Het
Nf1	T	A	11: 79,335,469 (GRCm39)	I977K	probably damaging	Het
Nos1	T	C	5: 118,081,899 (GRCm39)	V1240A	probably benign	Het
Nr3c1	T	C	18: 39,619,930 (GRCm39)	D119G	probably damaging	Het
Oga	C	A	19: 45,758,485 (GRCm39)		probably null	Het
Or4c107	A	T	2: 88,788,863 (GRCm39)	N18Y	probably damaging	Het
Pdlim2	A	G	14: 70,405,208 (GRCm39)	V219A	probably damaging	Het
Pira13	T	A	7: 3,825,805 (GRCm39)	M355L	probably benign	Het
Polr1g	T	C	7: 19,091,487 (GRCm39)	N207D	probably benign	Het
Prdx1	T	C	4: 116,549,128 (GRCm39)		probably null	Het
Rbfox1	C	T	16: 7,111,952 (GRCm39)	R173C	probably damaging	Het
Rbp3	T	A	14: 33,676,427 (GRCm39)	V125D	probably damaging	Het
Resf1	T	C	6: 149,227,097 (GRCm39)		probably benign	Het
Rhot1	T	A	11: 80,124,300 (GRCm39)	I154K	probably damaging	Het
Runx1t1	C	T	4: 13,837,978 (GRCm39)	R129C	probably damaging	Het
Setbp1	A	G	18: 78,901,382 (GRCm39)	S762P	probably benign	Het
Slc13a3	A	G	2: 165,290,619 (GRCm39)	I67T	probably damaging	Het
Tbc1d2b	A	T	9: 90,100,923 (GRCm39)	M689K	probably benign	Het
Top2a	T	C	11: 98,884,667 (GRCm39)	Y1517C	probably damaging	Het
Txndc2	A	T	17: 65,945,849 (GRCm39)	N109K	probably damaging	Het
Tyk2	A	G	9: 21,031,797 (GRCm39)		probably null	Het
Wdfy3	A	T	5: 102,096,838 (GRCm39)	L320*	probably null	Het
Zfp456	T	C	13: 67,514,995 (GRCm39)	E237G	probably benign	Het
Zscan10	A	G	17: 23,826,147 (GRCm39)	E103G	possibly damaging	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
R4987:Gzmc	UTSW	14	56,468,997 (GRCm39)	missense	probably damaging	0.99
R5166:Gzmc	UTSW	14	56,471,433 (GRCm39)	missense	probably damaging	1.00
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'- ACAAAAGAGTTCCTTGAGGTCTC -3'
(R):5'- AGTGTGACCCAGAGCATCAC -3'

Sequencing Primer
(F):5'- AGGTCTCTAGGTCCCAGGTTC -3'
(R):5'- AGAGCATCACCCTCTTGGCTG -3'

Posted On

2016-04-27