Mutagenetix > Incidental Mutation

Incidental Mutation 'R0389:Prkcz'

31460

Institutional Source

Beutler Lab

Gene Symbol

Prkcz

Ensembl Gene

ENSMUSG00000029053

Gene Name

protein kinase C, zeta

Synonyms

Pkcz, zetaPKC, aPKCzeta

MMRRC Submission

038595-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0389 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155260129-155361361 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155269140 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 250 (D250V)

Ref Sequence

ENSEMBL: ENSMUSP00000099467 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030922] [ENSMUST00000103178]

AlphaFold

Q02956

Predicted Effect

probably damaging
Transcript: ENSMUST00000030922
AA Change: D433V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030922
Gene: ENSMUSG00000029053
AA Change: D433V

Domain	Start	End	E-Value	Type
PB1	15	98	4.55e-24	SMART
C1	131	180	6.73e-17	SMART
S_TKc	252	518	5.49e-94	SMART
S_TK_X	519	582	2.58e-21	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000103178
AA Change: D250V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099467
Gene: ENSMUSG00000029053
AA Change: D250V

Domain	Start	End	E-Value	Type
S_TKc	69	335	5.49e-94	SMART
S_TK_X	336	399	2.58e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140256

Meta Mutation Damage Score

0.9751

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 91.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein kinase C (PKC) zeta is a member of the PKC family of serine/threonine kinases which are involved in a variety of cellular processes such as proliferation, differentiation and secretion. Unlike the classical PKC isoenzymes which are calcium-dependent, PKC zeta exhibits a kinase activity which is independent of calcium and diacylglycerol but not of phosphatidylserine. Furthermore, it is insensitive to typical PKC inhibitors and cannot be activated by phorbol ester. Unlike the classical PKC isoenzymes, it has only a single zinc finger module. These structural and biochemical properties indicate that the zeta subspecies is related to, but distinct from other isoenzymes of PKC. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Young, not mature, homozygous null mice have reduced B cell numbers and abnormal secondary lymph organ structure. Young mice have fewer Peyer's patches, poor delineation of B & T cell zones, and fewer follicles of small size. Spleens have less prominent B cell follicles and abnormal marginal zones. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	G	A	3: 121,671,404	E30K	unknown	Het
Abi3bp	A	T	16: 56,671,307	T1319S	possibly damaging	Het
Adam18	T	C	8: 24,629,637		probably null	Het
Adgre1	G	A	17: 57,406,839	D175N	possibly damaging	Het
Adgrf1	T	C	17: 43,303,788		probably null	Het
Ankhd1	A	G	18: 36,644,599	S1612G	possibly damaging	Het
Anks1	A	G	17: 27,995,952	R458G	possibly damaging	Het
C130026I21Rik	T	A	1: 85,270,052	N5Y	probably benign	Het
Cacna1g	C	T	11: 94,459,697	V441M	probably damaging	Het
Cadps2	A	T	6: 23,321,782	V1037E	possibly damaging	Het
Casz1	T	C	4: 148,948,911	V1380A	possibly damaging	Het
Cenpq	T	C	17: 40,933,194		probably benign	Het
Chrac1	T	C	15: 73,093,527	I93T	possibly damaging	Het
Cntnap2	T	A	6: 46,009,637	S359T	probably benign	Het
Col6a6	C	A	9: 105,784,204	M235I	probably benign	Het
Crat	T	C	2: 30,403,628		probably benign	Het
Cyp1a2	T	C	9: 57,682,025	N169D	probably benign	Het
Dennd1c	T	A	17: 57,067,649	T499S	probably benign	Het
Dst	A	G	1: 34,294,550		probably null	Het
Dync2h1	G	T	9: 7,167,244		probably null	Het
Eif3h	C	A	15: 51,799,264	V129F	probably damaging	Het
Eno2	A	G	6: 124,762,691	F380L	probably damaging	Het
Ergic2	T	A	6: 148,183,202	I34F	probably benign	Het
Ergic3	G	A	2: 156,016,787	V278M	probably benign	Het
Fam185a	C	T	5: 21,459,285	T339M	probably damaging	Het
Fam20b	A	T	1: 156,681,453	D396E	probably benign	Het
Fam71f2	T	A	6: 29,281,392	V43E	possibly damaging	Het
Fasn	G	T	11: 120,816,182	D881E	probably damaging	Het
Fat1	C	A	8: 44,950,348	H45Q	probably benign	Het
Fbxw16	A	T	9: 109,432,482	C439S	probably benign	Het
Gba2	A	T	4: 43,570,832	F280Y	probably damaging	Het
Gfm1	A	G	3: 67,457,918	I517V	probably benign	Het
Gng13	C	T	17: 25,718,722	Q8*	probably null	Het
Golga1	A	T	2: 39,018,441	S749T	probably damaging	Het
Gphn	A	T	12: 78,590,659	I381F	probably damaging	Het
Grm3	T	C	5: 9,504,794	N833D	probably damaging	Het
Gstt2	G	T	10: 75,832,432	T163K	probably damaging	Het
Gusb	A	T	5: 129,998,086	V388E	probably damaging	Het
Hcrtr2	A	T	9: 76,246,380	Y243*	probably null	Het
Hspg2	A	G	4: 137,515,423	T650A	possibly damaging	Het
Ints2	C	T	11: 86,248,851	V306I	probably damaging	Het
Itga1	T	A	13: 114,992,460	D554V	probably benign	Het
Itgam	C	T	7: 128,081,634	A245V	probably damaging	Het
Kcnk15	A	G	2: 163,858,323	T161A	probably benign	Het
Klhl18	A	T	9: 110,428,681	C564S	probably benign	Het
Krt40	T	A	11: 99,541,714	R159*	probably null	Het
L3mbtl4	G	A	17: 68,455,780	V103M	probably damaging	Het
Lnx2	C	A	5: 147,019,040	V649L	possibly damaging	Het
Lpp	A	T	16: 24,608,241	Q39H	probably damaging	Het
Lrpprc	A	T	17: 84,753,112		probably null	Het
Map3k19	A	T	1: 127,822,415	N1066K	probably benign	Het
Mbtps2	G	T	X: 157,568,368	T134K	probably benign	Het
Mfng	C	T	15: 78,764,437	V147M	possibly damaging	Het
Mks1	T	C	11: 87,857,928	S273P	probably benign	Het
Myh2	T	C	11: 67,180,821	L488P	probably damaging	Het
Myo15	A	G	11: 60,478,538	N708S	probably benign	Het
Myo6	A	T	9: 80,292,466	N1019I	probably damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Ncoa1	T	G	12: 4,295,976	N457T	probably benign	Het
Neb	T	C	2: 52,161,477		probably null	Het
Nlrp4e	C	A	7: 23,355,203	N927K	probably damaging	Het
Npffr2	T	C	5: 89,582,754	M181T	probably benign	Het
Nxf7	A	T	X: 135,584,383	C495S	possibly damaging	Het
Oas1g	T	C	5: 120,887,529	T12A	probably benign	Het
Olfr130	C	G	17: 38,067,671	R167G	possibly damaging	Het
Olfr23	T	A	11: 73,941,053	V269E	probably benign	Het
Olfr484	A	G	7: 108,124,816	V149A	probably benign	Het
Olfr591	A	T	7: 103,173,283	V118E	possibly damaging	Het
Olfr744	T	A	14: 50,618,579	L119Q	probably damaging	Het
Papln	C	T	12: 83,783,379	Q1008*	probably null	Het
Pcdhb10	A	C	18: 37,412,432	D187A	probably damaging	Het
Phf2	T	A	13: 48,804,489	E1016D	unknown	Het
Phf8	T	A	X: 151,552,622	D197E	probably benign	Het
Pikfyve	A	G	1: 65,196,706	H179R	probably damaging	Het
Prpf4	A	G	4: 62,422,605	Y419C	probably damaging	Het
Prr15l	C	A	11: 96,934,614	Y23*	probably null	Het
Prr5	T	A	15: 84,702,951	S301T	probably benign	Het
Psg16	T	A	7: 17,095,163	I224N	probably benign	Het
Radil	A	G	5: 142,543,471	F186L	probably damaging	Het
Reg3g	A	T	6: 78,468,561	M1K	probably null	Het
Rps6ka3	A	G	X: 159,317,967	Y76C	probably damaging	Het
Rtl1	C	T	12: 109,590,363	V1681I	possibly damaging	Het
Sfmbt1	C	T	14: 30,811,507	R614C	probably damaging	Het
Slc12a4	A	G	8: 105,951,967	S244P	probably benign	Het
Sptbn1	T	C	11: 30,139,250	T671A	possibly damaging	Het
Supt16	A	T	14: 52,174,113	N604K	probably damaging	Het
Synj2	G	A	17: 6,029,783	V1096I	probably benign	Het
Tas2r129	G	T	6: 132,951,196	C32F	probably benign	Het
Tbc1d25	T	C	X: 8,172,869	Y140C	probably damaging	Het
Tdrd7	A	G	4: 46,016,987	D709G	probably benign	Het
Tfap2d	C	T	1: 19,104,367	R15C	possibly damaging	Het
Tgfbi	C	A	13: 56,629,702	T333N	probably benign	Het
Tnk1	T	C	11: 69,855,682	Y235C	probably damaging	Het
Ttc17	A	G	2: 94,378,094	F144S	probably benign	Het
Twnk	G	T	19: 45,008,139	G337V	possibly damaging	Het
Unc13a	A	G	8: 71,658,032	F464L	probably benign	Het
Usp17le	C	A	7: 104,768,460	A492S	probably damaging	Het
Vmn1r213	A	T	13: 23,011,762	M172L	probably benign	Het
Vmn1r71	G	A	7: 10,748,311	T84I	probably benign	Het
Vmn2r109	C	T	17: 20,541,074	V674M	probably damaging	Het
Vmn2r19	A	T	6: 123,335,986	I672F	possibly damaging	Het
Vmn2r77	T	C	7: 86,801,494	V196A	probably benign	Het
Xdh	T	A	17: 73,898,362	H1036L	probably damaging	Het
Zfp930	T	A	8: 69,228,296	Y214*	probably null	Het

Other mutations in Prkcz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Prkcz	APN	4	155294401	splice site	probably benign
IGL02114:Prkcz	APN	4	155271590	missense	probably damaging	1.00
IGL02582:Prkcz	APN	4	155271256	missense	probably damaging	1.00
IGL03010:Prkcz	APN	4	155286805	missense	probably damaging	1.00
IGL03199:Prkcz	APN	4	155272984	missense	possibly damaging	0.85
IGL03225:Prkcz	APN	4	155268195	missense	probably damaging	0.99
IGL03229:Prkcz	APN	4	155262506	missense	probably benign	0.19
IGL03299:Prkcz	APN	4	155286790	missense	possibly damaging	0.78
PIT4403001:Prkcz	UTSW	4	155293156	critical splice donor site	probably null
R0443:Prkcz	UTSW	4	155269140	missense	probably damaging	1.00
R1666:Prkcz	UTSW	4	155289751	missense	probably damaging	1.00
R1668:Prkcz	UTSW	4	155289751	missense	probably damaging	1.00
R1686:Prkcz	UTSW	4	155271256	missense	probably damaging	1.00
R1710:Prkcz	UTSW	4	155262512	missense	probably damaging	1.00
R2025:Prkcz	UTSW	4	155289710	missense	probably damaging	1.00
R3162:Prkcz	UTSW	4	155290524	missense	probably benign	0.00
R3162:Prkcz	UTSW	4	155290524	missense	probably benign	0.00
R4399:Prkcz	UTSW	4	155269077	missense	possibly damaging	0.86
R4780:Prkcz	UTSW	4	155289702	missense	probably damaging	1.00
R4923:Prkcz	UTSW	4	155357489	missense	probably damaging	1.00
R5160:Prkcz	UTSW	4	155293232	missense	probably benign	0.22
R5510:Prkcz	UTSW	4	155272936	splice site	probably null
R6278:Prkcz	UTSW	4	155268195	missense	probably damaging	0.99
R6290:Prkcz	UTSW	4	155356499	missense	probably damaging	1.00
R6881:Prkcz	UTSW	4	155269056	missense	possibly damaging	0.90
R7055:Prkcz	UTSW	4	155289634	missense	probably benign	0.01
R7108:Prkcz	UTSW	4	155286793	nonsense	probably null
R7241:Prkcz	UTSW	4	155269059	missense	probably benign	0.00
R7355:Prkcz	UTSW	4	155357496	missense	probably damaging	1.00
R7466:Prkcz	UTSW	4	155271602	missense	probably damaging	1.00
R7522:Prkcz	UTSW	4	155271285	missense	probably damaging	1.00
R7618:Prkcz	UTSW	4	155262482	missense	probably damaging	1.00
R7753:Prkcz	UTSW	4	155272968	missense	possibly damaging	0.61
R8079:Prkcz	UTSW	4	155357505	missense	probably damaging	1.00
R8407:Prkcz	UTSW	4	155268216	missense	probably damaging	0.99
R8523:Prkcz	UTSW	4	155262511	missense	probably damaging	1.00
R8824:Prkcz	UTSW	4	155344828	start gained	probably benign
R9753:Prkcz	UTSW	4	155293202	missense	probably benign	0.01
X0067:Prkcz	UTSW	4	155354704	missense	probably benign	0.25
Z1176:Prkcz	UTSW	4	155354680	missense	probably damaging	1.00
Z1176:Prkcz	UTSW	4	155356468	missense	probably damaging	1.00
Z1177:Prkcz	UTSW	4	155301004	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACCTCGTTTTACAATCTCTGCC -3'
(R):5'- GAGCCTGTATCATCATCATCGGT -3'

Sequencing Primer
(F):5'- CAGAGGAATGGGTTCGTGTG -3'
(R):5'- GGTCACTATCACTGATGATG -3'

Posted On

2013-04-24