Mutagenetix > Incidental Mutation

Incidental Mutation 'R1968:Prkcq'

219154

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

039981-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1968 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11176922-11306033 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11250208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 175 (V175A)

Ref Sequence

ENSEMBL: ENSMUSP00000028118 (fasta)

Gene Model

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

AlphaFold

Q02111

PDB Structure

Identification of the Activator Binding Residues in the Second Cysteine-Rich Regulatory Domain of Protein Kinase C Theta [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000028118
AA Change: V175A

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

SMART Domains

Protein: ENSMUSP00000028118
Gene: ENSMUSG00000026778
AA Change: V175A

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 damaging
Transcript: ENSMUST00000102970
AA Change: V175A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100035
Gene: ENSMUSG00000026778
AA Change: V175A

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: ENSMUST00000114853

SMART Domains

Protein: ENSMUSP00000110503
Gene: ENSMUSG00000026778

Domain	Start	End	E-Value	Type
PDB:2ENJ\|A	3	126	9e-86	PDB
Blast:C2	6	101	2e-44	BLAST
C1	160	209	3.27e-15	SMART
C1	232	281	2.22e-17	SMART
Pfam:Pkinase	380	465	1.7e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192461

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195207

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein kinase C (PKC) 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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	G	4: 144,397,193 (GRCm39)	Y180H	possibly damaging	Het
Abcc10	A	T	17: 46,633,125 (GRCm39)	L528Q	probably damaging	Het
Adam18	T	A	8: 25,136,463 (GRCm39)	T353S	probably benign	Het
Aldh1a3	A	G	7: 66,061,248 (GRCm39)		probably null	Het
Aldh3b2	T	A	19: 4,030,705 (GRCm39)	M390K	probably benign	Het
Arhgap45	T	C	10: 79,863,536 (GRCm39)	I793T	probably damaging	Het
Arsb	A	G	13: 93,944,067 (GRCm39)	M253V	probably benign	Het
Atcay	T	C	10: 81,048,312 (GRCm39)	D258G	possibly damaging	Het
Atf1	G	T	15: 100,152,395 (GRCm39)		probably null	Het
Atp1a4	C	T	1: 172,067,731 (GRCm39)	E511K	probably benign	Het
Atp8a1	A	G	5: 67,825,000 (GRCm39)	V777A	probably benign	Het
Baz1a	T	C	12: 54,947,122 (GRCm39)	T1173A	possibly damaging	Het
Bdh2	A	T	3: 134,991,370 (GRCm39)	D15V	probably benign	Het
Cacna1e	T	C	1: 154,576,240 (GRCm39)	Y69C	probably damaging	Het
Caskin2	A	G	11: 115,694,440 (GRCm39)	L387P	probably benign	Het
Cat	T	C	2: 103,315,334 (GRCm39)	E17G	probably benign	Het
Ccdc15	T	C	9: 37,259,091 (GRCm39)	I54M	probably benign	Het
Ccn1	T	C	3: 145,353,965 (GRCm39)	Y275C	probably damaging	Het
Cdhr1	T	G	14: 36,801,682 (GRCm39)	I754L	probably benign	Het
Cep120	G	A	18: 53,856,313 (GRCm39)	T368I	probably benign	Het
Cep126	C	A	9: 8,100,909 (GRCm39)	D542Y	probably damaging	Het
Cep135	T	C	5: 76,772,594 (GRCm39)	S660P	possibly damaging	Het
Cfap70	A	T	14: 20,470,879 (GRCm39)	S455R	possibly damaging	Het
Chd8	A	G	14: 52,458,450 (GRCm39)	M886T	probably damaging	Het
Ckap5	T	C	2: 91,416,688 (GRCm39)	S1098P	probably benign	Het
Clec4e	A	T	6: 123,260,533 (GRCm39)	I204N	probably damaging	Het
Cntnap5c	G	A	17: 58,666,291 (GRCm39)	R1107H	probably damaging	Het
Cramp1	T	C	17: 25,183,913 (GRCm39)	D1234G	probably damaging	Het
Csf1r	A	T	18: 61,245,867 (GRCm39)	I275L	probably benign	Het
Cyp27a1	A	G	1: 74,776,435 (GRCm39)	E457G	probably benign	Het
Cyp2d11	T	C	15: 82,273,749 (GRCm39)	T410A	probably benign	Het
Cyp2d22	G	C	15: 82,257,373 (GRCm39)	T264S	probably benign	Het
Daam2	G	A	17: 49,790,088 (GRCm39)	R390W	probably damaging	Het
Decr2	T	C	17: 26,302,053 (GRCm39)	S226G	probably benign	Het
Dennd6b	T	C	15: 89,074,544 (GRCm39)	D91G	possibly damaging	Het
Dglucy	T	C	12: 100,825,903 (GRCm39)	V515A	possibly damaging	Het
Dlg5	A	T	14: 24,214,187 (GRCm39)	L734*	probably null	Het
Dop1b	A	G	16: 93,579,307 (GRCm39)	N1690D	probably damaging	Het
Exoc5	A	G	14: 49,272,347 (GRCm39)	Y356H	probably benign	Het
Fut7	T	A	2: 25,315,738 (GRCm39)	V332D	probably benign	Het
Gnas	T	C	2: 174,140,526 (GRCm39)	S232P	probably damaging	Het
Gramd4	A	G	15: 86,017,106 (GRCm39)	E522G	probably damaging	Het
Gys1	A	G	7: 45,092,970 (GRCm39)	T297A	probably damaging	Het
Herc4	T	C	10: 63,109,304 (GRCm39)	S180P	probably benign	Het
Hivep3	C	T	4: 119,953,435 (GRCm39)	P584S	possibly damaging	Het
Irag2	T	A	6: 145,115,499 (GRCm39)	S310T	probably damaging	Het
Itpk1	G	T	12: 102,641,729 (GRCm39)		probably null	Het
Jmjd1c	A	T	10: 67,061,219 (GRCm39)	S1191C	probably damaging	Het
Lima1	T	C	15: 99,717,565 (GRCm39)	N147S	probably benign	Het
Map4k5	G	A	12: 69,865,266 (GRCm39)	T506I	probably damaging	Het
Mat1a	A	T	14: 40,832,991 (GRCm39)	E58V	probably damaging	Het
Mfsd13a	T	C	19: 46,360,492 (GRCm39)	L348P	probably damaging	Het
Mon2	A	G	10: 122,845,470 (GRCm39)	Y1413H	probably damaging	Het
Mpp3	C	A	11: 101,909,378 (GRCm39)		probably benign	Het
Mpp4	T	A	1: 59,183,961 (GRCm39)	I260F	probably damaging	Het
Myocd	C	A	11: 65,091,733 (GRCm39)	G70C	probably damaging	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Nckap5	T	A	1: 125,942,367 (GRCm39)	D209V	probably damaging	Het
Nlrp9a	A	G	7: 26,264,366 (GRCm39)	K707R	probably benign	Het
Npr3	A	G	15: 11,905,055 (GRCm39)	L224S	probably benign	Het
Or5m9b	T	A	2: 85,905,549 (GRCm39)	L155Q	probably damaging	Het
Or5w20	T	A	2: 87,727,383 (GRCm39)	V280E	probably damaging	Het
Or6c74	A	G	10: 129,869,602 (GRCm39)	S36G	probably damaging	Het
Otof	C	T	5: 30,545,998 (GRCm39)	D467N	probably damaging	Het
Paxx	T	C	2: 25,350,640 (GRCm39)		probably benign	Het
Pcmt1	G	A	10: 7,516,474 (GRCm39)	R179*	probably null	Het
Phkb	T	A	8: 86,697,580 (GRCm39)	V463D	probably benign	Het
Rasl11b	T	G	5: 74,356,797 (GRCm39)	I58S	probably damaging	Het
Rb1cc1	A	T	1: 6,318,419 (GRCm39)		probably null	Het
Reck	T	A	4: 43,913,771 (GRCm39)		probably null	Het
Riox1	G	T	12: 83,998,156 (GRCm39)	D231Y	probably damaging	Het
Rlf	T	A	4: 121,005,617 (GRCm39)	N1231I	probably damaging	Het
Rpn1	A	G	6: 88,072,530 (GRCm39)	D291G	possibly damaging	Het
Samsn1	C	T	16: 75,742,461 (GRCm39)		noncoding transcript	Het
Scara5	T	C	14: 65,927,249 (GRCm39)	C49R	possibly damaging	Het
Serpini1	A	G	3: 75,521,785 (GRCm39)	D92G	probably benign	Het
Setdb2	A	T	14: 59,656,858 (GRCm39)	L153Q	probably damaging	Het
Sh3rf3	C	T	10: 58,649,809 (GRCm39)	T138M	probably benign	Het
Shkbp1	C	T	7: 27,054,825 (GRCm39)		probably null	Het
Slc22a29	G	A	19: 8,195,707 (GRCm39)	P111S	probably benign	Het
Smarca1	A	G	X: 46,941,564 (GRCm39)	V618A	probably damaging	Het
Spef2	T	A	15: 9,609,602 (GRCm39)	M1308L	probably damaging	Het
Spink5	A	G	18: 44,123,775 (GRCm39)	N354S	probably benign	Het
Srrm2	T	C	17: 24,040,465 (GRCm39)	S2370P	probably damaging	Het
Ssxb3	A	T	X: 8,454,905 (GRCm39)	I28N	probably damaging	Het
Sucla2	A	G	14: 73,831,119 (GRCm39)	T411A	probably damaging	Het
Tex38	A	C	4: 115,637,537 (GRCm39)	S89A	probably benign	Het
Tjp2	A	T	19: 24,088,437 (GRCm39)	D723E	probably damaging	Het
Tln2	A	T	9: 67,163,183 (GRCm39)	N1121K	probably damaging	Het
Tti1	T	C	2: 157,850,966 (GRCm39)	E91G	possibly damaging	Het
Wbp2	A	T	11: 115,973,191 (GRCm39)	M72K	possibly damaging	Het
Wdfy4	C	A	14: 32,828,001 (GRCm39)	C1062F	possibly damaging	Het
Wiz	A	G	17: 32,578,346 (GRCm39)	Y389H	probably damaging	Het
Zcchc3	T	C	2: 152,256,012 (GRCm39)	K229R	probably damaging	Het
Zmat3	C	A	3: 32,415,131 (GRCm39)	D60Y	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTTCACAAGCCCATGGAGG -3'
(R):5'- TGAATCAGCCTTTGTAGACCTTC -3'

Sequencing Primer
(F):5'- TTCACAAGCCCATGGAGGCTTAG -3'
(R):5'- ACCTTCTCTGTGCTGGTGAGC -3'

Posted On

2014-08-25