Mutagenetix > Incidental Mutation

Incidental Mutation 'R0049:Prkcq'

16196

Institutional Source

Beutler Lab

Gene Symbol

Prkcq

Ensembl Gene

ENSMUSG00000026778

Gene Name

protein kinase C, theta

Synonyms

A130035A12Rik, PKC-theta, PKC theta, PKC-0, Pkcq, PKCtheta

MMRRC Submission

038343-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0049 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

11176922-11306033 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 11288643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 532 (G532E)

Ref Sequence

ENSEMBL: ENSMUSP00000100035 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028118] [ENSMUST00000102970]

AlphaFold

Q02111

Predicted Effect

probably benign
Transcript: ENSMUST00000028118
AA Change: G532E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000028118
Gene: ENSMUSG00000026778
AA Change: G532E

Domain	Start	End	E-Value	Type
PDB:2ENJ\|A	3	126	6e-83	PDB
C1	160	209	3.27e-15	SMART
C1	232	281	2.22e-17	SMART
S_TKc	380	634	1.17e-97	SMART
S_TK_X	635	698	2.6e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102970
AA Change: G532E

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000100035
Gene: ENSMUSG00000026778
AA Change: G532E

Domain	Start	End	E-Value	Type
PDB:2ENJ\|A	3	126	2e-84	PDB
C1	160	209	3.27e-15	SMART
C1	232	281	2.22e-17	SMART
Pfam:Pkinase_Tyr	380	558	2.8e-27	PFAM
Pfam:Pkinase	380	560	2.2e-47	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195207

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195628

Meta Mutation Damage Score

0.1819

Coding Region Coverage

1x: 90.0%
3x: 87.7%
10x: 82.4%
20x: 74.6%

Validation Efficiency

89% (108/122)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipid-dependent protein kinase. This kinase is important for T-cell activation. It is required for the activation of the transcription factors NF-kappaB and AP-1, and may link the T cell receptor (TCR) signaling complex to the activation of the transcription factors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced T cell proliferative responses and interleukin 2 production and a lack of T cell receptor-initiated NF-kappaB activation in mature T lymphocytes. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, knock-out(2) Targeted, other(1)

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,615,267 (GRCm39)	H9L	possibly damaging	Het
Aars1	T	A	8: 111,779,083 (GRCm39)	I739K	possibly damaging	Het
Acod1	T	A	14: 103,292,643 (GRCm39)	I389K	possibly damaging	Het
Akap1	C	A	11: 88,730,450 (GRCm39)		probably null	Het
Anxa7	T	C	14: 20,512,678 (GRCm39)	D285G	probably damaging	Het
Arhgap1	T	C	2: 91,500,514 (GRCm39)	Y308H	probably damaging	Het
Arhgef11	T	A	3: 87,636,500 (GRCm39)		probably null	Het
Atosb	A	T	4: 43,036,441 (GRCm39)	S97T	probably benign	Het
Atp6v0a4	G	A	6: 38,059,016 (GRCm39)	R256C	probably damaging	Het
Camsap3	C	A	8: 3,648,772 (GRCm39)	S163R	probably benign	Het
Ccdc110	A	T	8: 46,395,663 (GRCm39)	E518V	probably damaging	Het
Ccdc180	G	A	4: 45,930,119 (GRCm39)		probably null	Het
Ccnt1	T	C	15: 98,462,960 (GRCm39)	M71V	probably benign	Het
Celsr2	T	A	3: 108,304,570 (GRCm39)	Y2263F	probably benign	Het
Cfap69	T	C	5: 5,663,734 (GRCm39)	T498A	probably benign	Het
Clstn3	T	A	6: 124,436,812 (GRCm39)	I132F	possibly damaging	Het
Cnot4	A	G	6: 35,028,212 (GRCm39)	V468A	probably benign	Het
Crmp1	T	G	5: 37,422,617 (GRCm39)	D141E	possibly damaging	Het
Cryz	C	A	3: 154,317,189 (GRCm39)	A136D	probably damaging	Het
Dcst2	T	C	3: 89,278,913 (GRCm39)	V550A	probably benign	Het
Dph6	A	G	2: 114,353,525 (GRCm39)	V221A	probably benign	Het
Ecm2	A	T	13: 49,677,922 (GRCm39)	K403*	probably null	Het
Eif3d	T	C	15: 77,843,924 (GRCm39)	N474S	probably benign	Het
F12	T	C	13: 55,574,130 (GRCm39)	D34G	probably benign	Het
Fam228b	A	T	12: 4,798,117 (GRCm39)	F200Y	probably damaging	Het
Fgl2	T	A	5: 21,580,661 (GRCm39)	D334E	possibly damaging	Het
Fras1	T	A	5: 96,924,481 (GRCm39)	F3641I	probably benign	Het
Gabrb2	T	G	11: 42,484,674 (GRCm39)	Y244D	probably damaging	Het
Gcc1	A	T	6: 28,421,268 (GRCm39)	D16E	probably benign	Het
Gm10648	T	C	7: 28,561,202 (GRCm39)		probably benign	Het
Gorasp2	T	C	2: 70,521,067 (GRCm39)	S346P	possibly damaging	Het
Htt	A	C	5: 35,066,006 (GRCm39)	K3060N	probably damaging	Het
Ibsp	C	T	5: 104,450,024 (GRCm39)	L8F	probably damaging	Het
Kif27	A	T	13: 58,451,378 (GRCm39)	D983E	probably damaging	Het
Kif3a	T	A	11: 53,481,560 (GRCm39)		probably benign	Het
Kif3c	A	C	12: 3,417,090 (GRCm39)	K370N	possibly damaging	Het
Loxhd1	T	C	18: 77,468,256 (GRCm39)		probably benign	Het
Maz	A	T	7: 126,623,758 (GRCm39)	D74E	probably damaging	Het
Med21	T	C	6: 146,551,732 (GRCm39)	S128P	probably damaging	Het
Mms19	A	C	19: 41,943,607 (GRCm39)	M374R	probably damaging	Het
Mrpl3	T	C	9: 104,932,872 (GRCm39)	V111A	probably benign	Het
Mtfr2	T	A	10: 20,224,158 (GRCm39)	Y31N	probably damaging	Het
Neb	A	C	2: 52,060,479 (GRCm39)	M2286R	possibly damaging	Het
Ngf	A	T	3: 102,427,661 (GRCm39)	R137*	probably null	Het
Nr1i3	T	A	1: 171,041,982 (GRCm39)	V22E	probably damaging	Het
Nxpe5	T	C	5: 138,249,566 (GRCm39)	V452A	probably damaging	Het
Or11g27	A	T	14: 50,771,151 (GRCm39)	K94M	probably damaging	Het
Pax3	A	G	1: 78,080,141 (GRCm39)	L415P	probably damaging	Het
Pcnt	G	T	10: 76,205,655 (GRCm39)		probably benign	Het
Peg3	G	T	7: 6,714,672 (GRCm39)	D183E	possibly damaging	Het
Pglyrp1	G	T	7: 18,623,313 (GRCm39)	G120V	probably damaging	Het
Pomt1	T	A	2: 32,142,023 (GRCm39)	H584Q	possibly damaging	Het
Pwp1	A	G	10: 85,721,480 (GRCm39)	T361A	possibly damaging	Het
Rab4a	A	T	8: 124,554,081 (GRCm39)	H5L	probably damaging	Het
Ramp1	T	C	1: 91,124,592 (GRCm39)	I51T	possibly damaging	Het
Raph1	G	T	1: 60,565,058 (GRCm39)	T143K	probably benign	Het
Rhpn1	A	G	15: 75,581,088 (GRCm39)	E110G	possibly damaging	Het
Rnf168	A	T	16: 32,117,287 (GRCm39)	T283S	possibly damaging	Het
Ros1	T	A	10: 51,977,857 (GRCm39)	Y1463F	possibly damaging	Het
Rtn4ip1	A	G	10: 43,797,430 (GRCm39)	Q223R	probably null	Het
Rtp4	G	T	16: 23,431,679 (GRCm39)	M70I	probably benign	Het
Sag	C	A	1: 87,762,340 (GRCm39)	T335K	probably damaging	Het
Sgo1	C	T	17: 53,986,691 (GRCm39)	D167N	probably damaging	Het
Slco1a8	T	C	6: 141,936,147 (GRCm39)	T313A	probably benign	Het
St6gal1	G	T	16: 23,139,891 (GRCm39)	A21S	probably damaging	Het
Stard9	C	A	2: 120,530,300 (GRCm39)	L2186I	probably damaging	Het
Sun2	T	A	15: 79,611,810 (GRCm39)		probably benign	Het
Taf4	G	A	2: 179,565,884 (GRCm39)	T849M	probably damaging	Het
Taok2	G	A	7: 126,465,583 (GRCm39)	H404Y	possibly damaging	Het
Tdrd7	A	G	4: 45,987,582 (GRCm39)	I72V	probably damaging	Het
Trav1	T	A	14: 52,666,155 (GRCm39)	S52T	probably damaging	Het
Trim30a	C	T	7: 104,078,559 (GRCm39)		probably null	Het
Tro	T	C	X: 149,437,565 (GRCm39)	N364S	possibly damaging	Het
Tshz3	A	G	7: 36,469,534 (GRCm39)	T508A	probably damaging	Het
Ttc21b	A	G	2: 66,053,908 (GRCm39)	L757P	probably damaging	Het
Vmn1r218	C	T	13: 23,321,225 (GRCm39)	Q111*	probably null	Het
Vmn2r75	G	A	7: 85,797,309 (GRCm39)	Q835*	probably null	Het
Xcr1	T	A	9: 123,684,940 (GRCm39)	D274V	possibly damaging	Het
Ypel5	C	T	17: 73,153,332 (GRCm39)	T12I	probably benign	Het

Other mutations in Prkcq

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01654:Prkcq	APN	2	11,288,654 (GRCm39)	missense	probably damaging	1.00
IGL01656:Prkcq	APN	2	11,231,766 (GRCm39)	missense	probably damaging	1.00
IGL01732:Prkcq	APN	2	11,265,644 (GRCm39)	splice site	probably benign
IGL02136:Prkcq	APN	2	11,265,479 (GRCm39)	missense	probably benign	0.00
IGL02161:Prkcq	APN	2	11,281,887 (GRCm39)	missense	probably benign
IGL02178:Prkcq	APN	2	11,281,851 (GRCm39)	missense	possibly damaging	0.93
IGL03107:Prkcq	APN	2	11,265,597 (GRCm39)	missense	probably damaging	1.00
IGL03149:Prkcq	APN	2	11,237,356 (GRCm39)	missense	probably benign	0.11
banks	UTSW	2	11,304,221 (GRCm39)	missense	probably damaging	1.00
celina	UTSW	2	11,288,660 (GRCm39)	missense	possibly damaging	0.82
celina2	UTSW	2	11,231,797 (GRCm39)	critical splice donor site	probably null
Megabytes	UTSW	2	11,295,262 (GRCm39)	nonsense	probably null
Monmouth	UTSW	2	11,284,335 (GRCm39)	missense	probably damaging	1.00
3-1:Prkcq	UTSW	2	11,304,905 (GRCm39)	missense	probably damaging	1.00
K3955:Prkcq	UTSW	2	11,251,604 (GRCm39)	splice site	probably benign
R0049:Prkcq	UTSW	2	11,288,643 (GRCm39)	missense	probably benign	0.04
R0183:Prkcq	UTSW	2	11,257,973 (GRCm39)	missense	probably damaging	1.00
R0366:Prkcq	UTSW	2	11,251,649 (GRCm39)	splice site	probably benign
R0388:Prkcq	UTSW	2	11,259,045 (GRCm39)	missense	probably benign
R1385:Prkcq	UTSW	2	11,261,097 (GRCm39)	missense	probably damaging	1.00
R1687:Prkcq	UTSW	2	11,295,344 (GRCm39)	missense	probably damaging	1.00
R1693:Prkcq	UTSW	2	11,259,010 (GRCm39)	missense	probably damaging	0.99
R1760:Prkcq	UTSW	2	11,304,881 (GRCm39)	missense	probably damaging	1.00
R1764:Prkcq	UTSW	2	11,237,442 (GRCm39)	missense	probably damaging	1.00
R1968:Prkcq	UTSW	2	11,250,208 (GRCm39)	missense	probably damaging	1.00
R2020:Prkcq	UTSW	2	11,284,332 (GRCm39)	missense	probably benign
R2108:Prkcq	UTSW	2	11,237,380 (GRCm39)	missense	probably damaging	1.00
R2762:Prkcq	UTSW	2	11,237,451 (GRCm39)	missense	possibly damaging	0.75
R3402:Prkcq	UTSW	2	11,288,660 (GRCm39)	missense	possibly damaging	0.82
R3429:Prkcq	UTSW	2	11,251,781 (GRCm39)	missense	probably damaging	1.00
R3545:Prkcq	UTSW	2	11,288,627 (GRCm39)	missense	probably benign	0.11
R3547:Prkcq	UTSW	2	11,288,627 (GRCm39)	missense	probably benign	0.11
R3893:Prkcq	UTSW	2	11,231,782 (GRCm39)	missense	probably damaging	1.00
R4086:Prkcq	UTSW	2	11,288,679 (GRCm39)	missense	probably damaging	0.97
R4423:Prkcq	UTSW	2	11,260,980 (GRCm39)	missense	possibly damaging	0.66
R4541:Prkcq	UTSW	2	11,288,623 (GRCm39)	missense	possibly damaging	0.84
R4649:Prkcq	UTSW	2	11,284,333 (GRCm39)	missense	possibly damaging	0.83
R4652:Prkcq	UTSW	2	11,284,333 (GRCm39)	missense	possibly damaging	0.83
R4820:Prkcq	UTSW	2	11,231,797 (GRCm39)	critical splice donor site	probably null
R5197:Prkcq	UTSW	2	11,304,227 (GRCm39)	missense	probably damaging	1.00
R6008:Prkcq	UTSW	2	11,261,097 (GRCm39)	missense	probably damaging	1.00
R7030:Prkcq	UTSW	2	11,231,661 (GRCm39)	splice site	probably null
R7231:Prkcq	UTSW	2	11,295,262 (GRCm39)	nonsense	probably null
R7461:Prkcq	UTSW	2	11,304,221 (GRCm39)	missense	probably damaging	1.00
R7613:Prkcq	UTSW	2	11,304,221 (GRCm39)	missense	probably damaging	1.00
R8441:Prkcq	UTSW	2	11,253,037 (GRCm39)	missense	probably benign	0.11
R8491:Prkcq	UTSW	2	11,284,335 (GRCm39)	missense	probably damaging	1.00
R8724:Prkcq	UTSW	2	11,304,784 (GRCm39)	missense	probably benign	0.17
R9031:Prkcq	UTSW	2	11,251,819 (GRCm39)	missense	probably damaging	0.99
R9164:Prkcq	UTSW	2	11,231,716 (GRCm39)	missense	probably damaging	0.96
R9621:Prkcq	UTSW	2	11,261,014 (GRCm39)	missense	probably benign	0.00
R9661:Prkcq	UTSW	2	11,250,141 (GRCm39)	nonsense	probably null
Z1177:Prkcq	UTSW	2	11,304,192 (GRCm39)	missense	probably benign

Posted On

2013-01-08