Mutagenetix > Incidental Mutation

Incidental Mutation 'R7466:Prkcz'

578758

Institutional Source

Beutler Lab

Gene Symbol

Prkcz

Ensembl Gene

ENSMUSG00000029053

Gene Name

protein kinase C, zeta

Synonyms

aPKCzeta, zetaPKC, Pkcz

MMRRC Submission

045540-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7466 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155344586-155445818 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155356059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 355 (F355S)

Ref Sequence

ENSEMBL: ENSMUSP00000030922 (fasta)

Gene Model

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

AlphaFold

Q02956

Predicted Effect

probably damaging
Transcript: ENSMUST00000030922
AA Change: F355S

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

SMART Domains

Protein: ENSMUSP00000030922
Gene: ENSMUSG00000029053
AA Change: F355S

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: F172S

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

SMART Domains

Protein: ENSMUSP00000099467
Gene: ENSMUSG00000029053
AA Change: F172S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (83/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI182371	T	A	2: 34,978,753 (GRCm39)	K203*	probably null	Het
Akr1c13	T	C	13: 4,242,436 (GRCm39)		probably benign	Het
Amer3	A	G	1: 34,627,074 (GRCm39)	S438G	probably damaging	Het
Aqp9	T	A	9: 71,070,543 (GRCm39)		probably null	Het
Art4	G	T	6: 136,831,848 (GRCm39)	H98N	probably damaging	Het
Bdh1	T	C	16: 31,266,422 (GRCm39)	S70P	probably benign	Het
Ccdc61	A	C	7: 18,625,030 (GRCm39)	Y503D	probably damaging	Het
Cd180	A	T	13: 102,841,503 (GRCm39)	N183I	probably damaging	Het
Cd200r2	C	T	16: 44,729,537 (GRCm39)	A64V	probably damaging	Het
Ceacam9	A	C	7: 16,457,780 (GRCm39)	K98Q	probably benign	Het
Cep44	AACGC	A	8: 56,994,018 (GRCm39)		probably null	Het
Cfap77	G	T	2: 28,845,625 (GRCm39)	D247E	probably benign	Het
Cftr	T	C	6: 18,227,972 (GRCm39)	M388T	probably benign	Het
Chrnb1	G	A	11: 69,675,476 (GRCm39)	H493Y	probably damaging	Het
Ckap2	A	C	8: 22,667,402 (GRCm39)	M153R	probably benign	Het
Cnot6l	A	G	5: 96,278,987 (GRCm39)	V77A	probably benign	Het
Col12a1	C	T	9: 79,562,689 (GRCm39)	E1798K	possibly damaging	Het
Cth	T	A	3: 157,630,522 (GRCm39)	D49V	probably benign	Het
Ctnnb1	T	C	9: 120,784,482 (GRCm39)	S425P	probably damaging	Het
Ctnnd1	T	C	2: 84,441,129 (GRCm39)	N690S	probably benign	Het
Dennd2b	A	G	7: 109,124,553 (GRCm39)	L1096P	probably damaging	Het
Dennd4c	A	G	4: 86,692,568 (GRCm39)	D26G	probably damaging	Het
Dlg5	G	A	14: 24,295,280 (GRCm39)	P80L	probably damaging	Het
Dnai3	T	C	3: 145,761,373 (GRCm39)	D661G	probably benign	Het
Eef2k	A	G	7: 120,502,707 (GRCm39)		probably null	Het
Ephb2	C	T	4: 136,386,376 (GRCm39)	R791H	probably damaging	Het
Erh	T	C	12: 80,687,757 (GRCm39)	Y22C	probably benign	Het
F5	C	T	1: 164,020,897 (GRCm39)	T1124I	possibly damaging	Het
Fam220a	T	A	5: 143,549,226 (GRCm39)	C213S	possibly damaging	Het
Fat2	G	T	11: 55,201,258 (GRCm39)	N605K	probably damaging	Het
Ganab	C	A	19: 8,891,933 (GRCm39)	S780*	probably null	Het
Gbgt1	C	T	2: 28,392,219 (GRCm39)	P67S	probably damaging	Het
Gm17190	G	T	13: 96,219,287 (GRCm39)	G208*	probably null	Het
Grhl2	A	G	15: 37,291,860 (GRCm39)	Y316C	probably damaging	Het
H2-T10	T	C	17: 36,431,741 (GRCm39)	T38A	probably benign	Het
Ins1	A	G	19: 52,252,858 (GRCm39)		probably benign	Het
Ippk	T	C	13: 49,585,943 (GRCm39)		probably null	Het
Klc4	T	A	17: 46,950,836 (GRCm39)	I258F	probably benign	Het
Manba	C	A	3: 135,248,154 (GRCm39)	L348I	probably benign	Het
Mgam	A	G	6: 40,721,723 (GRCm39)	N347S	probably benign	Het
Myo18b	T	C	5: 112,871,758 (GRCm39)	T2108A	probably benign	Het
Naip5	A	T	13: 100,358,494 (GRCm39)	L914*	probably null	Het
Nsa2	C	T	13: 97,267,728 (GRCm39)	A242T	probably benign	Het
Nsd2	G	A	5: 34,039,491 (GRCm39)	W834*	probably null	Het
Or10q3	T	A	19: 11,847,680 (GRCm39)	D300V	possibly damaging	Het
Or5p50	A	T	7: 107,422,129 (GRCm39)	C182*	probably null	Het
Or5w1	T	C	2: 87,486,740 (GRCm39)	N175S	possibly damaging	Het
Or8s16	T	C	15: 98,211,261 (GRCm39)	M57V	probably damaging	Het
Pam	A	T	1: 97,769,972 (GRCm39)	D599E	probably damaging	Het
Phf20l1	A	G	15: 66,508,733 (GRCm39)	K864R	probably damaging	Het
Pip4p2	T	A	4: 14,912,477 (GRCm39)	Y195*	probably null	Het
Plcl2	A	G	17: 50,915,496 (GRCm39)	D835G	probably damaging	Het
Ppm1m	C	A	9: 106,073,356 (GRCm39)	A329S	probably damaging	Het
Prep	T	C	10: 45,026,534 (GRCm39)	V486A	probably benign	Het
Prkcb	A	T	7: 122,116,067 (GRCm39)	N182I	probably damaging	Het
Psg20	C	T	7: 18,418,392 (GRCm39)	S125N	probably benign	Het
Psmd12	A	G	11: 107,382,883 (GRCm39)	D234G	probably benign	Het
Pvrig-ps	A	T	5: 138,340,270 (GRCm39)	M14L	probably benign	Het
Rabgap1l	C	T	1: 160,054,054 (GRCm39)		probably null	Het
Rfc1	A	T	5: 65,432,769 (GRCm39)	C764S	probably damaging	Het
Ryr3	T	C	2: 112,757,302 (GRCm39)	D351G	probably benign	Het
Scart1	T	C	7: 139,800,619 (GRCm39)		probably null	Het
Serpinb9g	T	C	13: 33,679,150 (GRCm39)	F340S	probably benign	Het
Sirpb1c	C	A	3: 15,886,430 (GRCm39)	L315F	probably damaging	Het
Slc24a1	C	G	9: 64,835,686 (GRCm39)	E814Q	unknown	Het
Slc26a11	A	T	11: 119,265,328 (GRCm39)	Q355L	probably damaging	Het
Sp100	C	T	1: 85,634,960 (GRCm39)	L483F	possibly damaging	Het
Ston1	T	A	17: 88,943,329 (GRCm39)	M245K	probably benign	Het
Swap70	T	A	7: 109,873,979 (GRCm39)	D442E	probably benign	Het
Syne2	T	A	12: 76,092,960 (GRCm39)	V450D	possibly damaging	Het
Tbck	T	A	3: 132,458,324 (GRCm39)	N651K	probably damaging	Het
Timd4	A	T	11: 46,708,585 (GRCm39)	T204S	probably benign	Het
Tmem102	A	G	11: 69,695,711 (GRCm39)	L87P	probably damaging	Het
Tmprss11e	T	A	5: 86,857,339 (GRCm39)	T325S	probably benign	Het
Trpm1	G	A	7: 63,890,330 (GRCm39)	V978M	probably damaging	Het
Wdr12	A	T	1: 60,133,670 (GRCm39)	D19E	probably benign	Het
Wdr35	G	A	12: 9,055,773 (GRCm39)	V482I	probably benign	Het
Zer1	T	C	2: 29,991,496 (GRCm39)		probably null	Het
Zfp503	T	C	14: 22,036,079 (GRCm39)	D279G	probably benign	Het
Zfp870	A	T	17: 33,102,736 (GRCm39)	C198S	possibly damaging	Het
Zftraf1	C	T	15: 76,532,386 (GRCm39)	D241N	probably benign	Het
Zfyve26	C	T	12: 79,334,581 (GRCm39)	E146K	probably benign	Het
Zkscan6	T	C	11: 65,719,357 (GRCm39)	V459A	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
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'- GGTGTCAAGGGCAGACAATC -3'
(R):5'- CTCATGTTCTGAGGGACCTTCC -3'

Sequencing Primer
(F):5'- TCAAGGGCAGACAATCGAGTTG -3'
(R):5'- ACATTGTGGGGCTCTATG -3'

Posted On

2019-10-07