Mutagenetix > Incidental Mutation

Incidental Mutation 'R7753:Prkcz'

597357

Institutional Source

Beutler Lab

Gene Symbol

Prkcz

Ensembl Gene

ENSMUSG00000029053

Gene Name

protein kinase C, zeta

Synonyms

aPKCzeta, zetaPKC, Pkcz

MMRRC Submission

045809-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7753 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155344586-155445818 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155357425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 345 (Q345L)

Ref Sequence

ENSEMBL: ENSMUSP00000030922 (fasta)

Gene Model

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

AlphaFold

Q02956

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030922
AA Change: Q345L

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000030922
Gene: ENSMUSG00000029053
AA Change: Q345L

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

possibly damaging
Transcript: ENSMUST00000103178
AA Change: Q162L

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099467
Gene: ENSMUSG00000029053
AA Change: Q162L

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

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,074,933 (GRCm39)	T1377A	probably damaging	Het
AI661453	G	T	17: 47,778,439 (GRCm39)	E722*	probably null	Het
Ap2b1	A	T	11: 83,258,733 (GRCm39)	K735*	probably null	Het
Aqp4	T	C	18: 15,533,033 (GRCm39)	E20G	probably benign	Het
Atp6v1b1	G	T	6: 83,729,440 (GRCm39)	V117L	probably benign	Het
C1rb	A	G	6: 124,557,390 (GRCm39)	N509S	probably benign	Het
Cep44	A	G	8: 56,985,842 (GRCm39)	V350A	probably benign	Het
Cmya5	T	C	13: 93,234,680 (GRCm39)	Q136R	probably benign	Het
Cntrl	T	C	2: 35,001,691 (GRCm39)	S32P	probably damaging	Het
Cyp2d12	A	T	15: 82,441,164 (GRCm39)	E201V	possibly damaging	Het
Cyp4a14	G	T	4: 115,350,861 (GRCm39)	Q138K	probably damaging	Het
Dapk1	T	C	13: 60,899,007 (GRCm39)	Y826H	possibly damaging	Het
Dbh	A	G	2: 27,061,448 (GRCm39)	D294G	probably benign	Het
Ddx10	A	T	9: 53,136,904 (GRCm39)	L336Q	probably damaging	Het
Dop1a	A	G	9: 86,371,755 (GRCm39)	T149A	possibly damaging	Het
Epg5	A	G	18: 77,991,560 (GRCm39)	T86A	possibly damaging	Het
Fam171a1	A	T	2: 3,179,354 (GRCm39)	Q60L	probably damaging	Het
Farsb	T	A	1: 78,456,740 (GRCm39)	E41D	probably benign	Het
Frem1	T	C	4: 82,832,217 (GRCm39)	D1956G	probably benign	Het
Fzd4	T	A	7: 89,056,992 (GRCm39)	Y346*	probably null	Het
Fzd7	A	T	1: 59,522,641 (GRCm39)	S175C	probably benign	Het
Gdi2	A	G	13: 3,598,956 (GRCm39)	T47A	probably benign	Het
Gpr155	A	T	2: 73,212,550 (GRCm39)	H24Q	probably benign	Het
Hdac7	A	T	15: 97,698,642 (GRCm39)	N638K	possibly damaging	Het
Hdac7	G	T	15: 97,704,369 (GRCm39)	N515K	probably benign	Het
Hnrnpul2	T	C	19: 8,802,336 (GRCm39)	V401A	probably damaging	Het
Ifi27l2b	T	A	12: 103,417,519 (GRCm39)	R223*	probably null	Het
Igkv4-91	T	G	6: 68,745,761 (GRCm39)	S46R	probably benign	Het
Itk	T	A	11: 46,222,722 (GRCm39)	L582F	probably damaging	Het
Kcnab2	T	C	4: 152,481,218 (GRCm39)	I181V	probably benign	Het
Krtap5-2	GCCACAGCCTCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCTCC	GCCACAGCCTCC	7: 141,729,136 (GRCm39)		probably benign	Het
Lce1m	C	A	3: 92,925,815 (GRCm39)	G41W	unknown	Het
Mapk10	T	A	5: 103,186,419 (GRCm39)	K98*	probably null	Het
Mapk8ip2	A	G	15: 89,345,856 (GRCm39)	E812G	probably damaging	Het
Mlh1	C	A	9: 111,081,931 (GRCm39)		probably null	Het
Mroh1	A	G	15: 76,317,475 (GRCm39)	D784G	possibly damaging	Het
Neo1	A	T	9: 58,863,288 (GRCm39)	D426E	probably benign	Het
Nol4	T	A	18: 23,171,659 (GRCm39)	M1L	probably benign	Het
Nr1h3	A	G	2: 91,015,370 (GRCm39)	F338S	probably damaging	Het
Oasl2	A	G	5: 115,043,118 (GRCm39)	K297E	probably benign	Het
Or10ag59	A	G	2: 87,406,141 (GRCm39)	T238A	probably benign	Het
Or10z1	C	T	1: 174,078,236 (GRCm39)	V86I	probably benign	Het
Or4f14	A	G	2: 111,742,927 (GRCm39)	I116T	probably benign	Het
Or56a5	T	C	7: 104,793,007 (GRCm39)	I164M	probably benign	Het
Or5m5	A	G	2: 85,815,060 (GRCm39)	N292S	possibly damaging	Het
Osbpl9	T	C	4: 108,990,970 (GRCm39)	T97A	possibly damaging	Het
P3h2	A	T	16: 25,789,687 (GRCm39)	Y527N	probably damaging	Het
Papss2	A	T	19: 32,597,579 (GRCm39)	H9L	probably benign	Het
Pcdha4	C	A	18: 37,086,354 (GRCm39)	S179Y	possibly damaging	Het
Ppt1	A	T	4: 122,730,131 (GRCm39)	D28V	possibly damaging	Het
Prr14l	G	T	5: 32,984,597 (GRCm39)	L1633I	probably damaging	Het
Prss51	T	A	14: 64,333,376 (GRCm39)	V13D	possibly damaging	Het
Qrich2	TTGCAACACACCAGGCTGAACTGGACCTTGCTG	TTG	11: 116,347,868 (GRCm39)		probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Slc2a7	T	C	4: 150,239,141 (GRCm39)	I122T	possibly damaging	Het
Spata31e4	A	T	13: 50,855,817 (GRCm39)	D485V	probably damaging	Het
Sprr3	G	A	3: 92,364,415 (GRCm39)	P143L	probably benign	Het
Sugct	A	T	13: 17,752,104 (GRCm39)	S181T	possibly damaging	Het
Syne2	G	A	12: 76,085,697 (GRCm39)	R141Q	probably benign	Het
Taok1	T	C	11: 77,428,725 (GRCm39)	I992V	probably benign	Het
Tbc1d21	A	C	9: 58,269,306 (GRCm39)		probably null	Het
Thada	T	C	17: 84,559,818 (GRCm39)	D1453G	probably damaging	Het
Thoc5	T	C	11: 4,852,156 (GRCm39)	L104S	probably damaging	Het
Tln2	T	G	9: 67,302,755 (GRCm39)	Y72S	probably damaging	Het
Tmem98	A	G	11: 80,705,137 (GRCm39)	E75G	probably damaging	Het
Tox3	A	G	8: 90,975,560 (GRCm39)	L357P	probably damaging	Het
Ubr4	T	C	4: 139,197,603 (GRCm39)	V4492A	unknown	Het
Ulk4	A	G	9: 121,095,578 (GRCm39)		probably null	Het
Ush2a	A	G	1: 188,175,603 (GRCm39)	T1234A	probably benign	Het
Usp53	G	A	3: 122,742,887 (GRCm39)	T683I	probably damaging	Het
Vcan	T	A	13: 89,837,442 (GRCm39)	I2701F	probably damaging	Het
Vmn2r72	G	A	7: 85,399,834 (GRCm39)	A405V	probably damaging	Het
Vmn2r96	A	T	17: 18,806,663 (GRCm39)	T537S	possibly damaging	Het
Vstm2a	G	T	11: 16,213,040 (GRCm39)	A142S	probably damaging	Het
Zbtb41	A	G	1: 139,374,895 (GRCm39)	D785G	probably benign	Het
Zfp397	A	T	18: 24,090,129 (GRCm39)	Q144H	probably benign	Het
Zfp518a	A	T	19: 40,904,249 (GRCm39)	T1393S	possibly 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
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'- TCAAAGTCTGGAGAGGGACC -3'
(R):5'- ATCTCTGTAAGAGGCAGCCG -3'

Sequencing Primer
(F):5'- CAGTCCTGGGCACAAAGC -3'
(R):5'- CTGTAAGAGGCAGCCGGTCAG -3'

Posted On

2019-11-26