Mutagenetix > Incidental Mutation

Incidental Mutation 'R2025:Prkcz'

220404

Institutional Source

Beutler Lab

Gene Symbol

Prkcz

Ensembl Gene

ENSMUSG00000029053

Gene Name

protein kinase C, zeta

Synonyms

aPKCzeta, zetaPKC, Pkcz

MMRRC Submission

040034-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2025 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155344586-155445818 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 155374167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 83 (V83D)

Ref Sequence

ENSEMBL: ENSMUSP00000099467 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030922] [ENSMUST00000103178] [ENSMUST00000123652] [ENSMUST00000131975]

AlphaFold

Q02956

Predicted Effect

probably damaging
Transcript: ENSMUST00000030922
AA Change: V266D

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

SMART Domains

Protein: ENSMUSP00000030922
Gene: ENSMUSG00000029053
AA Change: V266D

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: V83D

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

SMART Domains

Protein: ENSMUSP00000099467
Gene: ENSMUSG00000029053
AA Change: V83D

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

probably benign
Transcript: ENSMUST00000123652

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125320

Predicted Effect

probably benign
Transcript: ENSMUST00000131975

SMART Domains

Protein: ENSMUSP00000116042
Gene: ENSMUSG00000029053

Domain	Start	End	E-Value	Type
C1	23	72	6.73e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139647

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145373

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.6%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,790,737 (GRCm39)	M757V	probably benign	Het
Abitram	T	A	4: 56,805,916 (GRCm39)	I138N	probably damaging	Het
Acan	T	G	7: 78,750,970 (GRCm39)	S1914A	probably benign	Het
Axin2	T	A	11: 108,833,904 (GRCm39)	V617D	probably damaging	Het
Bhlhe22	A	G	3: 18,109,975 (GRCm39)	S342G	probably benign	Het
Cald1	AAGAGAGAGAGAGAG	AAGAGAGAGAGAG	6: 34,723,108 (GRCm39)		probably null	Het
Ccdc34	A	G	2: 109,862,731 (GRCm39)	K179E	possibly damaging	Het
Clasp1	A	G	1: 118,432,629 (GRCm39)	T208A	probably damaging	Het
Crabp1	C	T	9: 54,675,752 (GRCm39)	R112*	probably null	Het
Cstdc1	T	C	2: 148,624,148 (GRCm39)	F41L	probably damaging	Het
D130040H23Rik	A	G	8: 69,755,525 (GRCm39)	N310S	probably benign	Het
Dalrd3	T	C	9: 108,448,284 (GRCm39)	I278T	probably benign	Het
Dbp	C	A	7: 45,357,700 (GRCm39)	D89E	probably benign	Het
Dennd2c	A	G	3: 103,039,005 (GRCm39)	D51G	possibly damaging	Het
Dido1	A	T	2: 180,330,974 (GRCm39)	L158*	probably null	Het
Disp1	G	T	1: 182,869,767 (GRCm39)	F884L	probably damaging	Het
Dmrtb1	T	C	4: 107,540,782 (GRCm39)	D193G	probably damaging	Het
Dnah8	A	G	17: 30,950,133 (GRCm39)	D1984G	probably damaging	Het
Dpf2	T	C	19: 5,952,781 (GRCm39)	Y218C	possibly damaging	Het
Dsg4	C	T	18: 20,599,693 (GRCm39)	Q770*	probably null	Het
Efemp1	A	T	11: 28,864,696 (GRCm39)	Y250F	possibly damaging	Het
Erbin	A	T	13: 103,966,703 (GRCm39)	I1249N	probably benign	Het
F5	A	G	1: 164,037,044 (GRCm39)	K1928E	probably benign	Het
Fhip1b	A	G	7: 105,038,143 (GRCm39)	V260A	probably damaging	Het
Gdf11	T	A	10: 128,727,314 (GRCm39)	I81F	probably damaging	Het
Gm10518	T	A	1: 179,631,483 (GRCm39)		probably benign	Het
Grb10	G	C	11: 11,920,576 (GRCm39)	S14*	probably null	Het
Greb1l	A	T	18: 10,515,221 (GRCm39)	Y562F	possibly damaging	Het
Gtf2ird1	T	C	5: 134,392,788 (GRCm39)	E789G	probably damaging	Het
Hook3	T	C	8: 26,528,126 (GRCm39)	E588G	probably damaging	Het
Hpx	A	G	7: 105,244,311 (GRCm39)	S266P	probably damaging	Het
Hs6st3	A	G	14: 120,106,801 (GRCm39)	D403G	probably damaging	Het
Igf2bp1	A	G	11: 95,864,996 (GRCm39)	V151A	possibly damaging	Het
Itga11	C	T	9: 62,670,093 (GRCm39)	T739I	probably damaging	Het
Kalrn	T	C	16: 34,010,106 (GRCm39)	I702V	probably damaging	Het
Kif2b	C	T	11: 91,468,172 (GRCm39)	S37N	probably damaging	Het
Kng2	T	A	16: 22,819,325 (GRCm39)	D237V	probably benign	Het
Krtap27-1	C	A	16: 88,468,173 (GRCm39)	V124L	possibly damaging	Het
Lig4	A	T	8: 10,022,436 (GRCm39)	L448Q	probably damaging	Het
Macf1	C	T	4: 123,265,711 (GRCm39)	A4821T	probably damaging	Het
Msh5	T	A	17: 35,251,768 (GRCm39)	I431F	possibly damaging	Het
Ndufa10	A	G	1: 92,367,614 (GRCm39)	Y339H	probably damaging	Het
Nin	T	A	12: 70,076,782 (GRCm39)	Q1091L	probably damaging	Het
Nom1	A	C	5: 29,651,849 (GRCm39)	D729A	probably damaging	Het
Or52e8	C	A	7: 104,624,451 (GRCm39)	G247V	probably benign	Het
P2ry14	A	T	3: 59,022,866 (GRCm39)	V207E	probably damaging	Het
Pdss2	A	T	10: 43,269,871 (GRCm39)	N238I	possibly damaging	Het
Pkn1	A	G	8: 84,398,007 (GRCm39)	V795A	probably damaging	Het
Pla2g6	A	C	15: 79,170,964 (GRCm39)	L804R	probably damaging	Het
Poglut1	A	T	16: 38,358,267 (GRCm39)		probably null	Het
Prss50	T	C	9: 110,690,328 (GRCm39)	F157S	probably benign	Het
Psors1c2	A	G	17: 35,845,099 (GRCm39)		probably benign	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rab7	G	A	6: 87,981,161 (GRCm39)	L174F	probably damaging	Het
Rapgef4	A	G	2: 72,073,083 (GRCm39)	T790A	probably benign	Het
Rb1cc1	G	T	1: 6,315,533 (GRCm39)	V503L	probably damaging	Het
Sbf1	T	A	15: 89,186,933 (GRCm39)	E815V	probably damaging	Het
Setd3	T	A	12: 108,126,526 (GRCm39)	E104V	probably damaging	Het
Slc39a5	A	T	10: 128,234,279 (GRCm39)	L208Q	probably damaging	Het
Slc39a5	G	T	10: 128,234,280 (GRCm39)	L208M	probably damaging	Het
Slc3a1	T	G	17: 85,340,273 (GRCm39)	Y232D	probably damaging	Het
Slc8a1	T	A	17: 81,956,541 (GRCm39)	S166C	probably damaging	Het
Stard9	T	A	2: 120,532,879 (GRCm39)	D3045E	probably benign	Het
Stk4	C	A	2: 163,938,751 (GRCm39)	D206E	probably damaging	Het
Syn3	T	C	10: 86,302,846 (GRCm39)	D103G	probably damaging	Het
Tbc1d30	T	A	10: 121,115,051 (GRCm39)	Y369F	probably benign	Het
Tenm2	G	T	11: 35,938,091 (GRCm39)	Y1527*	probably null	Het
Tfg	T	C	16: 56,525,988 (GRCm39)	K85R	possibly damaging	Het
Timp3	T	C	10: 86,136,749 (GRCm39)	L11P	probably damaging	Het
Tmem144	A	T	3: 79,735,018 (GRCm39)		probably null	Het
Tmtc4	T	C	14: 123,158,677 (GRCm39)	N682S	probably benign	Het
Tnks2	C	T	19: 36,843,466 (GRCm39)	L464F	probably damaging	Het
Trank1	T	C	9: 111,221,107 (GRCm39)	F2615L	probably benign	Het
Trio	T	C	15: 27,744,223 (GRCm39)	K2570E	probably damaging	Het
Trio	T	A	15: 27,774,013 (GRCm39)	D673V	probably damaging	Het
Ublcp1	A	T	11: 44,356,458 (GRCm39)	C87S	probably benign	Het
Unc13a	C	T	8: 72,092,412 (GRCm39)	E1386K	possibly damaging	Het
Wdr41	C	T	13: 95,155,456 (GRCm39)	H404Y	probably damaging	Het
Zfp280b	T	C	10: 75,874,328 (GRCm39)	L69S	probably damaging	Het
Zfp346	T	C	13: 55,280,121 (GRCm39)	S282P	probably damaging	Het
Zfp579	C	A	7: 4,996,520 (GRCm39)	E464*	probably null	Het
Zfp78	T	A	7: 6,378,513 (GRCm39)		probably null	Het
Zswim9	T	C	7: 13,003,292 (GRCm39)	E186G	probably damaging	Het

Other mutations in Prkcz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Prkcz	APN	4	155,378,858 (GRCm39)	splice site	probably benign
IGL02114:Prkcz	APN	4	155,356,047 (GRCm39)	missense	probably damaging	1.00
IGL02582:Prkcz	APN	4	155,355,713 (GRCm39)	missense	probably damaging	1.00
IGL03010:Prkcz	APN	4	155,371,262 (GRCm39)	missense	probably damaging	1.00
IGL03199:Prkcz	APN	4	155,357,441 (GRCm39)	missense	possibly damaging	0.85
IGL03225:Prkcz	APN	4	155,352,652 (GRCm39)	missense	probably damaging	0.99
IGL03229:Prkcz	APN	4	155,346,963 (GRCm39)	missense	probably benign	0.19
IGL03299:Prkcz	APN	4	155,371,247 (GRCm39)	missense	possibly damaging	0.78
PIT4403001:Prkcz	UTSW	4	155,377,613 (GRCm39)	critical splice donor site	probably null
R0389:Prkcz	UTSW	4	155,353,597 (GRCm39)	missense	probably damaging	1.00
R0443:Prkcz	UTSW	4	155,353,597 (GRCm39)	missense	probably damaging	1.00
R1666:Prkcz	UTSW	4	155,374,208 (GRCm39)	missense	probably damaging	1.00
R1668:Prkcz	UTSW	4	155,374,208 (GRCm39)	missense	probably damaging	1.00
R1686:Prkcz	UTSW	4	155,355,713 (GRCm39)	missense	probably damaging	1.00
R1710:Prkcz	UTSW	4	155,346,969 (GRCm39)	missense	probably damaging	1.00
R3162:Prkcz	UTSW	4	155,374,981 (GRCm39)	missense	probably benign	0.00
R3162:Prkcz	UTSW	4	155,374,981 (GRCm39)	missense	probably benign	0.00
R4399:Prkcz	UTSW	4	155,353,534 (GRCm39)	missense	possibly damaging	0.86
R4780:Prkcz	UTSW	4	155,374,159 (GRCm39)	missense	probably damaging	1.00
R4923:Prkcz	UTSW	4	155,441,946 (GRCm39)	missense	probably damaging	1.00
R5160:Prkcz	UTSW	4	155,377,689 (GRCm39)	missense	probably benign	0.22
R5510:Prkcz	UTSW	4	155,357,393 (GRCm39)	splice site	probably null
R6278:Prkcz	UTSW	4	155,352,652 (GRCm39)	missense	probably damaging	0.99
R6290:Prkcz	UTSW	4	155,440,956 (GRCm39)	missense	probably damaging	1.00
R6881:Prkcz	UTSW	4	155,353,513 (GRCm39)	missense	possibly damaging	0.90
R7055:Prkcz	UTSW	4	155,374,091 (GRCm39)	missense	probably benign	0.01
R7108:Prkcz	UTSW	4	155,371,250 (GRCm39)	nonsense	probably null
R7241:Prkcz	UTSW	4	155,353,516 (GRCm39)	missense	probably benign	0.00
R7355:Prkcz	UTSW	4	155,441,953 (GRCm39)	missense	probably damaging	1.00
R7466:Prkcz	UTSW	4	155,356,059 (GRCm39)	missense	probably damaging	1.00
R7522:Prkcz	UTSW	4	155,355,742 (GRCm39)	missense	probably damaging	1.00
R7618:Prkcz	UTSW	4	155,346,939 (GRCm39)	missense	probably damaging	1.00
R7753:Prkcz	UTSW	4	155,357,425 (GRCm39)	missense	possibly damaging	0.61
R8079:Prkcz	UTSW	4	155,441,962 (GRCm39)	missense	probably damaging	1.00
R8407:Prkcz	UTSW	4	155,352,673 (GRCm39)	missense	probably damaging	0.99
R8523:Prkcz	UTSW	4	155,346,968 (GRCm39)	missense	probably damaging	1.00
R8824:Prkcz	UTSW	4	155,429,285 (GRCm39)	start gained	probably benign
R9753:Prkcz	UTSW	4	155,377,659 (GRCm39)	missense	probably benign	0.01
X0067:Prkcz	UTSW	4	155,439,161 (GRCm39)	missense	probably benign	0.25
Z1176:Prkcz	UTSW	4	155,440,925 (GRCm39)	missense	probably damaging	1.00
Z1176:Prkcz	UTSW	4	155,439,137 (GRCm39)	missense	probably damaging	1.00
Z1177:Prkcz	UTSW	4	155,385,461 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTCGGTGATGACTTCCTG -3'
(R):5'- AGCCTACAGTCTTGGTTCTTTG -3'

Sequencing Primer
(F):5'- TCGGTGATGACTTCCTGCACAG -3'
(R):5'- CCTCCTTTGAGTTGGACGGC -3'

Posted On

2014-08-25