Mutagenetix > Incidental Mutation

Incidental Mutation 'R3162:Prkcz'

500441

Institutional Source

Beutler Lab

Gene Symbol

Prkcz

Ensembl Gene

ENSMUSG00000029053

Gene Name

protein kinase C, zeta

Synonyms

aPKCzeta, zetaPKC, Pkcz

MMRRC Submission

040613-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3162 (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 155374981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 114 (D114E)

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
AA Change: D222E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030922
Gene: ENSMUSG00000029053
AA Change: D222E

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
AA Change: D39E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099467
Gene: ENSMUSG00000029053
AA Change: D39E

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
AA Change: D39E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125320

Predicted Effect

probably benign
Transcript: ENSMUST00000131975
AA Change: D114E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000116042
Gene: ENSMUSG00000029053
AA Change: D114E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (49/50)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 64,053,833 (GRCm39)		probably benign	Het
4933412E24Rik	T	A	15: 59,888,134 (GRCm39)	E102V	probably damaging	Het
Adcy9	A	G	16: 4,129,452 (GRCm39)	L715P	probably damaging	Het
Adgre4	T	C	17: 56,109,218 (GRCm39)		probably benign	Het
Amer2	A	G	14: 60,616,000 (GRCm39)	D65G	probably damaging	Het
Atad2b	C	A	12: 4,989,689 (GRCm39)	N133K	possibly damaging	Het
AW551984	C	A	9: 39,504,325 (GRCm39)	R547L	probably damaging	Het
B3galt6	A	G	4: 156,076,464 (GRCm39)	Y204H	probably benign	Het
Btnl2	T	C	17: 34,577,039 (GRCm39)	W65R	probably damaging	Het
Camk1g	T	C	1: 193,042,115 (GRCm39)	T45A	possibly damaging	Het
Caps2	C	A	10: 112,018,391 (GRCm39)	Y180*	probably null	Het
Ccdc181	T	A	1: 164,107,865 (GRCm39)	S183T	probably damaging	Het
Cdc14b	A	G	13: 64,394,422 (GRCm39)		probably benign	Het
Cep350	T	C	1: 155,738,910 (GRCm39)	H2311R	probably benign	Het
Cfap54	T	A	10: 92,881,140 (GRCm39)	K349N	probably damaging	Het
Copa	T	A	1: 171,918,800 (GRCm39)	C127S	probably damaging	Het
Crbn	T	C	6: 106,767,827 (GRCm39)	Q221R	probably benign	Het
Dapk2	T	G	9: 66,161,893 (GRCm39)	V267G	probably damaging	Het
Ddb1	T	C	19: 10,603,335 (GRCm39)	L881P	probably damaging	Het
Decr1	T	A	4: 15,930,972 (GRCm39)	D120V	probably damaging	Het
Dennd1c	C	T	17: 57,373,562 (GRCm39)	G637D	possibly damaging	Het
Dhrs3	A	G	4: 144,646,016 (GRCm39)	D108G	possibly damaging	Het
Disp1	T	C	1: 182,868,806 (GRCm39)	K1205E	probably benign	Het
Dnajc13	G	T	9: 104,097,097 (GRCm39)	N510K	possibly damaging	Het
Dusp6	T	C	10: 99,099,944 (GRCm39)	Y131H	probably damaging	Het
Eif2b2	A	T	12: 85,266,435 (GRCm39)	M34L	probably benign	Het
Epsti1	A	T	14: 78,211,953 (GRCm39)		probably benign	Het
Errfi1	G	A	4: 150,951,816 (GRCm39)	E415K	probably damaging	Het
Ext1	T	C	15: 53,208,000 (GRCm39)	N254D	possibly damaging	Het
Gm7337	A	C	5: 87,999,416 (GRCm39)		noncoding transcript	Het
Hnrnpu	T	C	1: 178,158,690 (GRCm39)		probably benign	Het
Hyal3	T	A	9: 107,464,005 (GRCm39)	C407S	probably damaging	Het
Insr	T	G	8: 3,211,416 (GRCm39)	N1141T	possibly damaging	Het
Ipo9	T	C	1: 135,337,214 (GRCm39)	T174A	probably benign	Het
Iqgap1	G	A	7: 80,402,086 (GRCm39)	A393V	probably benign	Het
Irak2	G	T	6: 113,649,721 (GRCm39)	A119S	probably benign	Het
Itgb2l	A	G	16: 96,238,589 (GRCm39)	L70P	probably damaging	Het
Itsn1	C	A	16: 91,649,932 (GRCm39)	S202*	probably null	Het
Ivd	T	C	2: 118,692,650 (GRCm39)		probably null	Het
Leprot	C	T	4: 101,515,090 (GRCm39)	T89I	probably damaging	Het
Lratd2	A	T	15: 60,695,296 (GRCm39)	V150E	probably damaging	Het
Mill2	A	C	7: 18,590,099 (GRCm39)	E127A	probably benign	Het
Msh6	T	C	17: 88,292,909 (GRCm39)	Y555H	probably damaging	Het
Myo18b	A	C	5: 112,840,594 (GRCm39)	S2400A	probably damaging	Het
Naa25	A	G	5: 121,573,135 (GRCm39)		probably null	Het
Nop2	A	G	6: 125,111,555 (GRCm39)	N96S	probably benign	Het
Nup155	G	T	15: 8,177,867 (GRCm39)	R1083S	possibly damaging	Het
Nusap1	A	T	2: 119,460,885 (GRCm39)	Q126L	possibly damaging	Het
Or11g24	T	A	14: 50,662,488 (GRCm39)	C171S	probably damaging	Het
Or13c7b	T	A	4: 43,820,544 (GRCm39)	K272N	probably benign	Het
Or2z2	T	C	11: 58,346,053 (GRCm39)	T241A	probably damaging	Het
Or4c52	T	G	2: 89,845,365 (GRCm39)	Y30*	probably null	Het
Or5al1	T	C	2: 85,990,439 (GRCm39)	I92V	probably benign	Het
Or6x1	G	T	9: 40,098,901 (GRCm39)	Q163H	probably benign	Het
Or7a35	C	A	10: 78,853,438 (GRCm39)	T94N	probably benign	Het
Pde5a	T	A	3: 122,575,277 (GRCm39)	L356*	probably null	Het
Pdik1l	A	G	4: 134,011,561 (GRCm39)	L94S	probably damaging	Het
Pkdrej	T	A	15: 85,700,818 (GRCm39)	D1706V	probably damaging	Het
Pkhd1l1	A	G	15: 44,368,924 (GRCm39)	I856M	probably damaging	Het
Prss59	A	G	6: 40,903,003 (GRCm39)	M123T	probably benign	Het
Psap	T	C	10: 60,113,575 (GRCm39)	L4P	possibly damaging	Het
Ptprk	T	C	10: 28,468,822 (GRCm39)	V1402A	probably benign	Het
Rai14	T	C	15: 10,633,250 (GRCm39)	T47A	possibly damaging	Het
Ralgapa1	A	T	12: 55,756,371 (GRCm39)	N1075K	probably damaging	Het
Rlf	A	G	4: 121,006,044 (GRCm39)	S979P	probably damaging	Het
Rps2	G	T	17: 24,939,952 (GRCm39)	A129S	probably benign	Het
Serinc2	A	G	4: 130,154,528 (GRCm39)	S175P	probably benign	Het
Skic2	C	T	17: 35,066,789 (GRCm39)	W88*	probably null	Het
Socs5	A	T	17: 87,442,146 (GRCm39)	Q362L	probably damaging	Het
Srbd1	A	T	17: 86,437,643 (GRCm39)	D233E	probably benign	Het
Srgap3	A	G	6: 112,706,619 (GRCm39)	V826A	probably benign	Het
Tacr2	A	G	10: 62,101,024 (GRCm39)	D378G	probably benign	Het
Taok2	A	G	7: 126,474,347 (GRCm39)	I294T	possibly damaging	Het
Tert	A	G	13: 73,775,528 (GRCm39)	E93G	possibly damaging	Het
Tns2	A	G	15: 102,021,771 (GRCm39)	E1118G	possibly damaging	Het
Topaz1	T	C	9: 122,578,446 (GRCm39)	I452T	probably benign	Het
Trak1	C	T	9: 121,280,800 (GRCm39)		probably benign	Het
Ttc22	A	T	4: 106,480,276 (GRCm39)	I177F	probably damaging	Het
Tuba8	A	G	6: 121,199,697 (GRCm39)	D127G	possibly damaging	Het
Tulp4	A	G	17: 6,248,983 (GRCm39)	M1V	probably null	Het
Urb1	A	G	16: 90,594,791 (GRCm39)	L247P	probably damaging	Het
Usp32	A	G	11: 84,916,362 (GRCm39)	W861R	probably damaging	Het
Vmn1r48	G	A	6: 90,013,360 (GRCm39)	T155I	probably benign	Het
Vmn2r117	A	G	17: 23,679,352 (GRCm39)	L624P	probably damaging	Het
Vmn2r86	T	C	10: 130,291,673 (GRCm39)	R31G	probably damaging	Het
Vstm5	T	G	9: 15,168,594 (GRCm39)	S53A	probably benign	Het
Wnt5a	T	C	14: 28,244,445 (GRCm39)	Y231H	probably benign	Het
Yeats2	T	C	16: 20,012,395 (GRCm39)	V531A	probably damaging	Het
Zw10	T	C	9: 48,988,860 (GRCm39)	Y709H	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
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

Posted On

2017-12-01