Incidental Mutation 'IGL02178:Prkcq'
ID283211
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkcq
Ensembl Gene ENSMUSG00000026778
Gene Nameprotein kinase C, theta
SynonymsPKC theta, PKC-0, PKCtheta, PKC-theta, A130035A12Rik, Pkcq
Accession Numbers

Genbank: NM_008859; MGI: 97601

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02178
Quality Score
Status
Chromosome2
Chromosomal Location11172108-11301222 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 11277040 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Serine at position 460 (Y460S)
Ref Sequence ENSEMBL: ENSMUSP00000028118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028118] [ENSMUST00000102970]
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 possibly damaging
Transcript: ENSMUST00000028118
AA Change: Y460S

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028118
Gene: ENSMUSG00000026778
AA Change: Y460S

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000102970
AA Change: Y460S

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000100035
Gene: ENSMUSG00000026778
AA Change: Y460S

DomainStartEndE-ValueType
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
Coding Region Coverage
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,662,461 T516S possibly damaging Het
6820408C15Rik T C 2: 152,428,001 probably benign Het
Ak5 T C 3: 152,526,785 D331G probably benign Het
Ar A G X: 98,305,438 D675G probably damaging Het
Arhgap23 A G 11: 97,452,353 D276G probably benign Het
Arhgef3 C T 14: 27,265,529 R40* probably null Het
Atp1b4 G T X: 38,332,818 R293L possibly damaging Het
Borcs8 T C 8: 70,165,247 L85P probably damaging Het
Carmil1 T G 13: 24,094,403 K194N probably damaging Het
Catsper4 T A 4: 134,227,326 K4N probably benign Het
Ccdc30 T C 4: 119,349,724 probably benign Het
Cd101 A G 3: 100,993,766 S997P probably damaging Het
Cdkl5 G A X: 160,816,893 T792I probably benign Het
Cep135 A G 5: 76,595,474 Y185C probably damaging Het
Clcn5 A G X: 7,186,324 Y59H possibly damaging Het
Col6a1 A T 10: 76,711,075 I771N unknown Het
Crispld1 C T 1: 17,762,103 probably benign Het
Fam109b T A 15: 82,343,326 D15E possibly damaging Het
Fbxl13 A G 5: 21,620,720 I128T possibly damaging Het
Gga1 T A 15: 78,892,047 M430K probably benign Het
Has2 A G 15: 56,682,060 Y49H probably damaging Het
Ivd A G 2: 118,871,434 I116V probably benign Het
Krt75 T C 15: 101,572,791 N183D probably benign Het
Map3k9 A T 12: 81,743,837 I314N probably damaging Het
Map6d1 T G 16: 20,236,698 E129D probably damaging Het
Mettl22 T C 16: 8,478,282 V145A probably benign Het
Muc5ac T A 7: 141,805,447 probably benign Het
Mycbp2 A G 14: 103,224,366 F1416L probably benign Het
Nlrc4 T C 17: 74,446,843 I182V probably damaging Het
Olfr1351 T C 10: 79,017,720 Y133H possibly damaging Het
Olfr1444 T A 19: 12,862,543 I256N possibly damaging Het
Phc3 T C 3: 30,929,863 T668A possibly damaging Het
Ppp2r2a T C 14: 67,023,097 Y244C probably damaging Het
Prmt8 T A 6: 127,697,807 E286V probably benign Het
Ptprb A T 10: 116,322,532 M503L probably benign Het
Ptprq A T 10: 107,686,319 D590E probably benign Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Rps6kc1 A T 1: 190,871,836 S196R possibly damaging Het
Ryr3 A G 2: 112,825,799 Y1951H probably benign Het
Sbno1 A T 5: 124,400,195 probably null Het
Sde2 T G 1: 180,851,231 L20R possibly damaging Het
Slco1a5 A T 6: 142,262,688 C81* probably null Het
Snx2 A G 18: 53,199,785 E177G possibly damaging Het
Spg11 A T 2: 122,097,302 V667D probably damaging Het
Tas2r115 T C 6: 132,737,308 T227A probably benign Het
Tmed9 A G 13: 55,593,295 H41R possibly damaging Het
Vmn1r35 T G 6: 66,679,102 S28R probably damaging Het
Vmn2r110 A C 17: 20,584,444 probably null Het
Vstm2l T C 2: 157,935,417 Y72H probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Zbtb4 A T 11: 69,776,429 R187* probably null Het
Zfp598 A G 17: 24,677,543 D198G probably damaging Het
Zp2 G T 7: 120,133,750 A629E possibly damaging Het
Other mutations in Prkcq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01654:Prkcq APN 2 11283843 missense probably damaging 1.00
IGL01656:Prkcq APN 2 11226955 missense probably damaging 1.00
IGL01732:Prkcq APN 2 11260833 splice site probably benign
IGL02136:Prkcq APN 2 11260668 missense probably benign 0.00
IGL02161:Prkcq APN 2 11277076 missense probably benign
IGL03107:Prkcq APN 2 11260786 missense probably damaging 1.00
IGL03149:Prkcq APN 2 11232545 missense probably benign 0.11
celina UTSW 2 11283849 missense possibly damaging 0.82
celina2 UTSW 2 11226986 critical splice donor site probably null
3-1:Prkcq UTSW 2 11300094 missense probably damaging 1.00
K3955:Prkcq UTSW 2 11246793 splice site probably benign
R0049:Prkcq UTSW 2 11283832 missense probably benign 0.04
R0049:Prkcq UTSW 2 11283832 missense probably benign 0.04
R0183:Prkcq UTSW 2 11253162 missense probably damaging 1.00
R0366:Prkcq UTSW 2 11246838 splice site probably benign
R0388:Prkcq UTSW 2 11254234 missense probably benign
R1385:Prkcq UTSW 2 11256286 missense probably damaging 1.00
R1687:Prkcq UTSW 2 11290533 missense probably damaging 1.00
R1693:Prkcq UTSW 2 11254199 missense probably damaging 0.99
R1760:Prkcq UTSW 2 11300070 missense probably damaging 1.00
R1764:Prkcq UTSW 2 11232631 missense probably damaging 1.00
R1968:Prkcq UTSW 2 11245397 missense probably damaging 1.00
R2020:Prkcq UTSW 2 11279521 missense probably benign
R2108:Prkcq UTSW 2 11232569 missense probably damaging 1.00
R2762:Prkcq UTSW 2 11232640 missense possibly damaging 0.75
R3402:Prkcq UTSW 2 11283849 missense possibly damaging 0.82
R3429:Prkcq UTSW 2 11246970 missense probably damaging 1.00
R3545:Prkcq UTSW 2 11283816 missense probably benign 0.11
R3547:Prkcq UTSW 2 11283816 missense probably benign 0.11
R3893:Prkcq UTSW 2 11226971 missense probably damaging 1.00
R4086:Prkcq UTSW 2 11283868 missense probably damaging 0.97
R4423:Prkcq UTSW 2 11256169 missense possibly damaging 0.66
R4541:Prkcq UTSW 2 11283812 missense possibly damaging 0.84
R4649:Prkcq UTSW 2 11279522 missense possibly damaging 0.83
R4652:Prkcq UTSW 2 11279522 missense possibly damaging 0.83
R4820:Prkcq UTSW 2 11226986 critical splice donor site probably null
R5197:Prkcq UTSW 2 11299416 missense probably damaging 1.00
R6008:Prkcq UTSW 2 11256286 missense probably damaging 1.00
R7030:Prkcq UTSW 2 11226850 splice site probably null
R7231:Prkcq UTSW 2 11290451 nonsense probably null
R7461:Prkcq UTSW 2 11299410 missense probably damaging 1.00
R7613:Prkcq UTSW 2 11299410 missense probably damaging 1.00
Posted On2015-04-16