Mutagenetix > Incidental Mutation

Incidental Mutation 'R8824:Prkcz'

673317

Institutional Source

Beutler Lab

Gene Symbol

Prkcz

Ensembl Gene

ENSMUSG00000029053

Gene Name

protein kinase C, zeta

Synonyms

aPKCzeta, zetaPKC, Pkcz

MMRRC Submission

068657-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8824 (G1)

Quality Score

139.008

Status

Validated

Chromosome

Chromosomal Location

155344586-155445818 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 155429285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116042 (fasta)

Gene Model

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

AlphaFold

Q02956

Predicted Effect

probably benign
Transcript: ENSMUST00000030922

SMART Domains

Protein: ENSMUSP00000030922
Gene: ENSMUSG00000029053

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 benign
Transcript: ENSMUST00000103178

SMART Domains

Protein: ENSMUSP00000099467
Gene: ENSMUSG00000029053

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

probably benign
Transcript: ENSMUST00000131975

SMART Domains

Protein: ENSMUSP00000116042
Gene: ENSMUSG00000029053

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (63/63)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,693,195 (GRCm39)	V260D	probably damaging	Het
Adora2a	G	A	10: 75,162,013 (GRCm39)	A51T	probably damaging	Het
Afg1l	G	A	10: 42,314,383 (GRCm39)	P128S	possibly damaging	Het
Ago4	C	A	4: 126,400,977 (GRCm39)	V623L	probably benign	Het
Akap11	A	T	14: 78,753,787 (GRCm39)	N112K		Het
C1ra	A	T	6: 124,494,654 (GRCm39)	I306F	probably damaging	Het
Ccdc73	A	G	2: 104,822,222 (GRCm39)	N724D	possibly damaging	Het
Cd248	A	G	19: 5,119,645 (GRCm39)	I498V	probably benign	Het
Clrn1	A	T	3: 58,792,314 (GRCm39)	S50T	probably benign	Het
Col7a1	A	G	9: 108,796,093 (GRCm39)	K1553R	unknown	Het
Cxcr6	A	C	9: 123,640,006 (GRCm39)	T343P	probably benign	Het
Cyp11b2	T	A	15: 74,727,914 (GRCm39)	Q56L	probably damaging	Het
Dip2a	A	G	10: 76,114,320 (GRCm39)		probably null	Het
Dnmbp	A	G	19: 43,838,276 (GRCm39)	V742A	probably benign	Het
Dusp16	A	T	6: 134,716,732 (GRCm39)	S192T	probably benign	Het
Ehbp1	A	T	11: 22,182,053 (GRCm39)	D87E	probably damaging	Het
Fgl1	A	G	8: 41,652,748 (GRCm39)	V150A	probably benign	Het
Flt3	T	C	5: 147,271,673 (GRCm39)	D873G	probably damaging	Het
Gart	T	C	16: 91,427,591 (GRCm39)	D469G	possibly damaging	Het
Gm28168	T	G	1: 117,875,625 (GRCm39)	S85A	probably benign	Het
Golgb1	A	G	16: 36,736,051 (GRCm39)	D1807G	probably benign	Het
Grm8	A	G	6: 27,761,351 (GRCm39)	L291S	probably damaging	Het
Gucy2d	C	T	7: 98,092,676 (GRCm39)	P18S	possibly damaging	Het
Ifna15	C	T	4: 88,475,998 (GRCm39)	C162Y	probably damaging	Het
Iqub	C	A	6: 24,479,307 (GRCm39)	E412*	probably null	Het
Krt4	T	A	15: 101,829,077 (GRCm39)	D312V		Het
Krtap26-1	T	C	16: 88,444,324 (GRCm39)	Y99C	probably damaging	Het
Krtap26-1	A	T	16: 88,444,303 (GRCm39)	I106N	probably damaging	Het
Lipn	T	C	19: 34,062,116 (GRCm39)	I357T	probably benign	Het
Lrrc14b	A	G	13: 74,512,068 (GRCm39)	L4P	probably damaging	Het
Mrgpra9	A	T	7: 46,885,041 (GRCm39)	C209S	probably benign	Het
Myh7b	A	G	2: 155,472,301 (GRCm39)	N1291D	probably benign	Het
Myo5a	A	G	9: 75,074,328 (GRCm39)	T746A	probably damaging	Het
Myom2	A	C	8: 15,164,169 (GRCm39)	E1021D	possibly damaging	Het
Ncoa2	C	T	1: 13,247,409 (GRCm39)	R338H	probably benign	Het
Ncor2	A	G	5: 125,195,821 (GRCm39)	F91L		Het
Neb	C	G	2: 52,106,923 (GRCm39)	A4407P	probably damaging	Het
Or10u4	C	T	10: 129,801,661 (GRCm39)	V297M	probably damaging	Het
Or1j18	A	T	2: 36,625,203 (GRCm39)	Y290F	probably damaging	Het
Or4b1b	A	G	2: 90,126,356 (GRCm39)	I283T	probably damaging	Het
Or5d47	A	G	2: 87,804,347 (GRCm39)	F221L	probably benign	Het
Or5p76	T	G	7: 108,122,350 (GRCm39)	Y269S	probably benign	Het
Or5w12	T	C	2: 87,502,304 (GRCm39)	M136V	possibly damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Piwil4	C	A	9: 14,638,771 (GRCm39)	K298N	probably benign	Het
Prkg2	G	A	5: 99,090,067 (GRCm39)	P691L	possibly damaging	Het
Ptprc	T	A	1: 138,041,446 (GRCm39)	K89*	probably null	Het
Rapgef3	C	T	15: 97,664,789 (GRCm39)	A25T	probably benign	Het
Rreb1	C	T	13: 38,114,492 (GRCm39)	T617I	probably damaging	Het
Rsph1	A	C	17: 31,492,350 (GRCm39)	V72G	possibly damaging	Het
Shc2	A	G	10: 79,473,536 (GRCm39)	V50A	probably benign	Het
Slc38a9	G	A	13: 112,838,021 (GRCm39)	R262H	probably benign	Het
Slco6c1	T	A	1: 97,055,884 (GRCm39)	N6Y	possibly damaging	Het
Smarca5	A	G	8: 81,431,961 (GRCm39)	F886L	probably benign	Het
Tas1r2	A	G	4: 139,381,074 (GRCm39)		probably benign	Het
Tnrc6c	T	A	11: 117,630,680 (GRCm39)		probably benign	Het
Trim30b	T	A	7: 104,007,113 (GRCm39)		probably benign	Het
Trim55	T	C	3: 19,727,126 (GRCm39)	S398P	probably benign	Het
Ttc39c	T	A	18: 12,820,003 (GRCm39)		probably benign	Het
Ubxn10	A	G	4: 138,463,178 (GRCm39)		probably null	Het
Usf3	A	G	16: 44,035,976 (GRCm39)	N152S	probably benign	Het
Vps13b	T	A	15: 35,533,445 (GRCm39)	V839E	probably damaging	Het
Zeb1	T	A	18: 5,748,680 (GRCm39)		probably benign	Het
Zfp780b	T	C	7: 27,662,893 (GRCm39)	Y554C	probably benign	Het
Zhx2	C	T	15: 57,684,676 (GRCm39)	T15I	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
R2025:Prkcz	UTSW	4	155,374,167 (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
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'- GGTCGTCAGAAAAGCATCCC -3'
(R):5'- TGGTCAGAGCAAACATGCATGTC -3'

Sequencing Primer
(F):5'- TCAATCCTGTACAGCCCTCAG -3'
(R):5'- ATGGGACCACAACGATGA -3'

Posted On

2021-07-15