Incidental Mutation 'R2108:Prkcq'
ID 232224
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 040112-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2108 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 11176922-11306033 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 11237380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 53 (Y53F)
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: Y53F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028118
Gene: ENSMUSG00000026778
AA Change: Y53F

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 probably damaging
Transcript: ENSMUST00000102970
AA Change: Y53F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000100035
Gene: ENSMUSG00000026778
AA Change: Y53F

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: ENSMUST00000114853
SMART Domains Protein: ENSMUSP00000110503
Gene: ENSMUSG00000026778

DomainStartEndE-ValueType
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: ENSMUST00000192244
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195207
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd10 A G 16: 45,552,303 (GRCm39) M190T probably benign Het
Abhd5 A G 9: 122,207,005 (GRCm39) Y250C probably damaging Het
Ace2 A G X: 162,923,728 (GRCm39) N24S probably benign Het
Adamtsl2 A G 2: 26,985,570 (GRCm39) M485V probably benign Het
Adamtsl4 G T 3: 95,588,357 (GRCm39) P577H probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Apc T C 18: 34,402,282 (GRCm39) Y141H probably damaging Het
Arsi A T 18: 61,049,443 (GRCm39) T109S possibly damaging Het
Asb3 G A 11: 31,031,355 (GRCm39) probably null Het
Atm T C 9: 53,355,297 (GRCm39) D2899G probably damaging Het
Bcas3 G A 11: 85,348,704 (GRCm39) V199I probably damaging Het
Bub1 T C 2: 127,661,255 (GRCm39) K279E probably damaging Het
C3 A T 17: 57,530,974 (GRCm39) probably null Het
Cabcoco1 T C 10: 68,267,153 (GRCm39) K185E probably benign Het
Cadm2 A T 16: 66,528,357 (GRCm39) I326N probably benign Het
Ccr3 T C 9: 123,829,336 (GRCm39) S224P possibly damaging Het
Cdhr4 A G 9: 107,874,843 (GRCm39) T638A probably damaging Het
Cfap46 T C 7: 139,263,677 (GRCm39) I4V probably benign Het
Csf2rb2 A T 15: 78,176,744 (GRCm39) V216E probably damaging Het
Csmd3 A T 15: 47,868,257 (GRCm39) D754E possibly damaging Het
Dnaaf1 T C 8: 120,309,471 (GRCm39) probably null Het
Dnah11 A C 12: 117,984,088 (GRCm39) Y2466D probably damaging Het
Dtx2 C T 5: 136,059,431 (GRCm39) S493F probably damaging Het
E2f7 T C 10: 110,616,763 (GRCm39) Y668H probably benign Het
Ehmt1 A T 2: 24,727,630 (GRCm39) S735T probably damaging Het
Eomes T C 9: 118,307,920 (GRCm39) F65L probably benign Het
Ercc6l2 T C 13: 64,019,802 (GRCm39) probably benign Het
Fbrsl1 A T 5: 110,526,300 (GRCm39) L439Q probably damaging Het
Fyco1 C T 9: 123,626,581 (GRCm39) probably null Het
Gfm2 A G 13: 97,291,950 (GRCm39) T229A probably benign Het
Gm7735 G A 16: 88,966,433 (GRCm39) G19D unknown Het
Gnpda1 T C 18: 38,466,243 (GRCm39) probably null Het
Gpr6 T A 10: 40,946,649 (GRCm39) Y311F possibly damaging Het
Gprc6a A T 10: 51,491,304 (GRCm39) V744E probably damaging Het
Grin3a C T 4: 49,665,510 (GRCm39) D1042N possibly damaging Het
Gstm3 A G 3: 107,873,450 (GRCm39) C174R probably damaging Het
Hectd4 A G 5: 121,471,487 (GRCm39) E2670G possibly damaging Het
Hsd3b6 A T 3: 98,713,503 (GRCm39) Y265* probably null Het
Hus1 T A 11: 8,961,110 (GRCm39) M1L probably null Het
Idi2l G A 13: 8,991,764 (GRCm39) P221S possibly damaging Het
Ifi213 T G 1: 173,396,668 (GRCm39) probably null Het
Igf2r A C 17: 12,917,138 (GRCm39) N1587K probably benign Het
Ints1 A T 5: 139,753,505 (GRCm39) V709E probably damaging Het
Ints8 C A 4: 11,235,552 (GRCm39) R359L probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrp1b C T 2: 41,000,769 (GRCm39) E2152K probably damaging Het
Lrp2 A T 2: 69,336,968 (GRCm39) V1268D possibly damaging Het
Mpo T C 11: 87,686,901 (GRCm39) Y177H probably damaging Het
Mpp4 G A 1: 59,182,941 (GRCm39) P322L possibly damaging Het
Mprip A G 11: 59,660,717 (GRCm39) K2166R probably damaging Het
Myo15a T C 11: 60,382,636 (GRCm39) Y1544H probably damaging Het
Neu1 G A 17: 35,153,374 (GRCm39) R299Q probably benign Het
Nfxl1 C A 5: 72,671,675 (GRCm39) probably null Het
Nrp2 T A 1: 62,783,436 (GRCm39) I179N probably damaging Het
Nup153 A G 13: 46,846,986 (GRCm39) probably null Het
Or1j4 C A 2: 36,740,355 (GRCm39) A99E possibly damaging Het
Or2g7 G T 17: 38,378,746 (GRCm39) R228L possibly damaging Het
Or5p54 A T 7: 107,554,709 (GRCm39) H287L probably benign Het
Or6c6c A T 10: 129,541,490 (GRCm39) I248L probably benign Het
Or8g27 A T 9: 39,129,318 (GRCm39) I222F probably damaging Het
P2ry12 A T 3: 59,124,774 (GRCm39) D300E probably damaging Het
Pkhd1 C A 1: 20,623,798 (GRCm39) G766* probably null Het
Plagl1 A C 10: 13,004,391 (GRCm39) probably benign Het
Psg18 T C 7: 18,084,799 (GRCm39) E99G probably damaging Het
Ptprz1 T A 6: 23,033,476 (GRCm39) H1921Q probably damaging Het
Rcc1l A G 5: 134,184,629 (GRCm39) V391A probably benign Het
Sdr42e1 C T 8: 118,391,763 (GRCm39) V11I probably damaging Het
Slc12a3 C A 8: 95,067,158 (GRCm39) N404K probably damaging Het
Slc38a4 T C 15: 96,906,878 (GRCm39) M287V probably benign Het
Slc6a8 A T X: 72,720,492 (GRCm39) I96F possibly damaging Het
Smyd2 A G 1: 189,629,623 (GRCm39) S136P probably damaging Het
Sox11 A G 12: 27,391,702 (GRCm39) Y236H probably damaging Het
Tbc1d2 G A 4: 46,637,652 (GRCm39) P198L possibly damaging Het
Tcof1 G T 18: 60,968,845 (GRCm39) A256E probably damaging Het
Tenm4 A G 7: 96,555,497 (GRCm39) Y2726C probably damaging Het
Tnfsf14 T A 17: 57,497,867 (GRCm39) R122W probably damaging Het
Tril T C 6: 53,796,068 (GRCm39) T385A probably damaging Het
Trrap A G 5: 144,762,684 (GRCm39) T2386A probably benign Het
Tspear T A 10: 77,706,253 (GRCm39) L341H possibly damaging Het
Uba7 A G 9: 107,856,487 (GRCm39) M595V probably benign Het
Usp43 GC G 11: 67,746,566 (GRCm39) probably null Het
Utrn C A 10: 12,312,108 (GRCm39) D616Y probably damaging Het
Vmn2r69 T C 7: 85,059,404 (GRCm39) I502V probably benign Het
Vps13d C A 4: 144,801,617 (GRCm39) G419C probably damaging Het
Zbtb25 A T 12: 76,396,880 (GRCm39) M114K probably benign Het
Zcchc4 A G 5: 52,953,474 (GRCm39) Y161C probably damaging Het
Zfp292 A T 4: 34,808,593 (GRCm39) F1484I possibly damaging Het
Zfp326 A G 5: 106,062,646 (GRCm39) probably benign Het
Zfp395 T A 14: 65,630,565 (GRCm39) S372T probably benign Het
Zfp423 T A 8: 88,507,806 (GRCm39) E825V possibly damaging Het
Zfp445 A T 9: 122,681,305 (GRCm39) Y879N probably benign Het
Zfp451 A G 1: 33,818,248 (GRCm39) I77T possibly damaging Het
Zfp85 A T 13: 67,897,003 (GRCm39) S356R probably benign Het
Other mutations in Prkcq
AlleleSourceChrCoordTypePredicted EffectPPH 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
R1968:Prkcq UTSW 2 11,250,208 (GRCm39) missense probably damaging 1.00
R2020:Prkcq UTSW 2 11,284,332 (GRCm39) missense probably benign
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'- CTGCCCTAGATTGTCTCAGAG -3'
(R):5'- AGCTAGCATCATGGTGCAC -3'

Sequencing Primer
(F):5'- AGATTGTCTCAGAGTTATTTCTGCC -3'
(R):5'- ATCATGGTGCACACTAGCTG -3'
Posted On 2014-09-18