Incidental Mutation 'R0240:Prkcd'
ID 65875
Institutional Source Beutler Lab
Gene Symbol Prkcd
Ensembl Gene ENSMUSG00000021948
Gene Name protein kinase C, delta
Synonyms PKC[d], D14Ertd420e, Pkcd, PKCdelta
MMRRC Submission 038478-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.458) question?
Stock # R0240 (G1)
Quality Score 205
Status Not validated
Chromosome 14
Chromosomal Location 30317311-30348167 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 30324045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 311 (A311V)
Ref Sequence ENSEMBL: ENSMUSP00000107821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022521] [ENSMUST00000112202] [ENSMUST00000112203] [ENSMUST00000112206] [ENSMUST00000112207] [ENSMUST00000112210] [ENSMUST00000112211]
AlphaFold P28867
Predicted Effect possibly damaging
Transcript: ENSMUST00000022521
AA Change: A426V

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022521
Gene: ENSMUSG00000021948
AA Change: A426V

DomainStartEndE-ValueType
C2 11 100 1.28e0 SMART
C1 159 208 1.38e-13 SMART
C1 231 280 3.19e-18 SMART
S_TKc 373 627 1.17e-97 SMART
S_TK_X 628 691 8.92e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112202
AA Change: A311V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107821
Gene: ENSMUSG00000021948
AA Change: A311V

DomainStartEndE-ValueType
C1 44 93 1.38e-13 SMART
C1 116 165 3.19e-18 SMART
S_TKc 258 512 1.17e-97 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112203
AA Change: A285V

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107822
Gene: ENSMUSG00000021948
AA Change: A285V

DomainStartEndE-ValueType
C1 44 93 1.38e-13 SMART
C1 116 165 3.19e-18 SMART
S_TKc 232 486 1.17e-97 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112206
AA Change: A311V

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107825
Gene: ENSMUSG00000021948
AA Change: A311V

DomainStartEndE-ValueType
C1 44 93 1.38e-13 SMART
C1 116 165 3.19e-18 SMART
S_TKc 258 512 1.17e-97 SMART
S_TK_X 513 576 8.92e-25 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112207
AA Change: A285V

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107826
Gene: ENSMUSG00000021948
AA Change: A285V

DomainStartEndE-ValueType
C1 44 93 1.38e-13 SMART
C1 116 165 3.19e-18 SMART
S_TKc 232 486 1.17e-97 SMART
S_TK_X 487 550 8.92e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000112208
SMART Domains Protein: ENSMUSP00000107827
Gene: ENSMUSG00000021948

DomainStartEndE-ValueType
C2 11 100 1.28e0 SMART
C1 159 208 1.38e-13 SMART
C1 231 280 3.19e-18 SMART
S_TKc 347 601 1.17e-97 SMART
S_TK_X 602 665 8.92e-25 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112210
AA Change: A400V

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107829
Gene: ENSMUSG00000021948
AA Change: A400V

DomainStartEndE-ValueType
C2 11 100 1.28e0 SMART
C1 159 208 1.38e-13 SMART
C1 231 280 3.19e-18 SMART
S_TKc 347 601 1.17e-97 SMART
S_TK_X 602 665 8.92e-25 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112211
AA Change: A426V

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107830
Gene: ENSMUSG00000021948
AA Change: A426V

DomainStartEndE-ValueType
C2 11 100 1.28e0 SMART
C1 159 208 1.38e-13 SMART
C1 231 280 3.19e-18 SMART
S_TKc 373 627 1.17e-97 SMART
S_TK_X 628 691 8.92e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140701
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145806
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135714
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130736
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128135
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.3%
  • 10x: 91.2%
  • 20x: 69.9%
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 distinct roles in cells. The protein encoded by this gene is one of the PKC family members. Studies both in human and mice demonstrate that this kinase is involved in B cell signaling and in the regulation of growth, apoptosis, and differentiation of a variety of cell types. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased neutrophil cell numbers and activity, increased B cell numbers and proliferation, increased acute inflammation, and increased IgG1 and IgA serum levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf3 T C 8: 123,506,920 (GRCm39) L71P probably damaging Het
Adamts2 A T 11: 50,666,201 (GRCm39) D399V probably damaging Het
Adck2 T A 6: 39,560,752 (GRCm39) V380E probably benign Het
Ankrd27 T A 7: 35,318,864 (GRCm39) L585Q probably damaging Het
Atp7a T A X: 105,153,447 (GRCm39) N1117K probably damaging Het
Cacna1d T A 14: 29,818,926 (GRCm39) M1210L probably benign Het
Cotl1 C T 8: 120,567,063 (GRCm39) W26* probably null Het
Csmd3 T C 15: 47,492,635 (GRCm39) T3000A probably benign Het
Ddhd2 A T 8: 26,229,617 (GRCm39) probably null Het
Dnah8 T C 17: 30,984,653 (GRCm39) I3117T probably damaging Het
Dnm3 G T 1: 162,181,194 (GRCm39) Q162K probably benign Het
Dpy19l2 G T 9: 24,569,876 (GRCm39) A359D probably damaging Het
Eif4g3 A G 4: 137,897,873 (GRCm39) K1025R probably damaging Het
Eml2 C A 7: 18,918,797 (GRCm39) Y82* probably null Het
Eml6 A G 11: 29,742,367 (GRCm39) V1057A possibly damaging Het
Espl1 T C 15: 102,220,976 (GRCm39) S911P probably benign Het
Flrt1 A T 19: 7,074,475 (GRCm39) probably benign Het
G3bp1 G A 11: 55,382,854 (GRCm39) G139D probably damaging Het
Galc A T 12: 98,218,293 (GRCm39) H186Q probably damaging Het
Ganab A G 19: 8,890,177 (GRCm39) D702G possibly damaging Het
Hdac10 T C 15: 89,010,085 (GRCm39) E291G possibly damaging Het
Hectd3 T G 4: 116,859,810 (GRCm39) V749G probably damaging Het
Kcnh1 T A 1: 192,187,648 (GRCm39) I703N probably benign Het
Kcnma1 G A 14: 23,544,647 (GRCm39) T505I probably damaging Het
Kctd11 A G 11: 69,770,640 (GRCm39) C133R probably damaging Het
Lama3 A T 18: 12,672,880 (GRCm39) probably null Het
Lamb3 T C 1: 193,017,335 (GRCm39) L842P probably damaging Het
Lipk G A 19: 34,024,210 (GRCm39) R336H probably benign Het
Lrrc24 T A 15: 76,607,409 (GRCm39) D58V probably damaging Het
Milr1 G A 11: 106,645,722 (GRCm39) W88* probably null Het
Mmp10 A G 9: 7,506,544 (GRCm39) D340G probably damaging Het
Mybpc1 T A 10: 88,391,600 (GRCm39) Y285F possibly damaging Het
Ncoa3 A G 2: 165,896,320 (GRCm39) T408A probably benign Het
Nefm T A 14: 68,358,583 (GRCm39) K484* probably null Het
Nfasc A G 1: 132,529,721 (GRCm39) S814P probably damaging Het
Nlrp4a T C 7: 26,161,941 (GRCm39) V863A probably benign Het
Nos1 C T 5: 118,005,948 (GRCm39) P223S probably benign Het
Or13c7 T A 4: 43,854,512 (GRCm39) S68T probably damaging Het
Or4c108 A T 2: 88,803,740 (GRCm39) L165Q probably damaging Het
Or5an6 A T 19: 12,372,327 (GRCm39) E233D probably benign Het
Or8k41 A G 2: 86,313,730 (GRCm39) S119P possibly damaging Het
Otog C A 7: 45,913,456 (GRCm39) probably null Het
Pacs1 A T 19: 5,206,402 (GRCm39) I261N possibly damaging Het
Pbx1 G A 1: 168,031,051 (GRCm39) T189I possibly damaging Het
Pcnx1 T C 12: 81,993,792 (GRCm39) I908T possibly damaging Het
Pdxdc1 A T 16: 13,697,309 (GRCm39) W124R probably damaging Het
Phex C A X: 155,969,214 (GRCm39) D587Y probably damaging Het
Plcb3 A T 19: 6,940,363 (GRCm39) D435E probably benign Het
Plce1 A C 19: 38,717,330 (GRCm39) K1373T probably damaging Het
Ptpn3 A T 4: 57,232,374 (GRCm39) S421T probably benign Het
Ptprs T C 17: 56,743,087 (GRCm39) probably null Het
Qrich1 A G 9: 108,411,333 (GRCm39) D286G probably damaging Het
Rcc1 C A 4: 132,060,226 (GRCm39) G393V probably damaging Het
Reln T C 5: 22,311,043 (GRCm39) N290S probably benign Het
Rhpn1 C T 15: 75,585,971 (GRCm39) T628I probably benign Het
Rnf224 T C 2: 25,126,219 (GRCm39) T45A probably damaging Het
Rpa1 A G 11: 75,219,513 (GRCm39) V137A probably benign Het
Rps6ka1 C A 4: 133,575,842 (GRCm39) Q693H probably benign Het
Scn2a G T 2: 65,566,118 (GRCm39) V1381F probably benign Het
Scp2 T A 4: 107,955,275 (GRCm39) H112L probably benign Het
Sdk1 T C 5: 141,984,502 (GRCm39) W696R probably damaging Het
Slc26a7 C A 4: 14,532,651 (GRCm39) V408F probably damaging Het
Slc28a2 T A 2: 122,285,008 (GRCm39) I332N probably benign Het
Slc45a4 T A 15: 73,453,755 (GRCm39) E674D probably benign Het
Smpd3 T C 8: 106,991,788 (GRCm39) E255G probably damaging Het
Snx29 C T 16: 11,478,417 (GRCm39) R658W probably damaging Het
Sppl2a A T 2: 126,762,256 (GRCm39) M275K probably benign Het
Stac T C 9: 111,464,089 (GRCm39) N59S probably damaging Het
Stk25 A T 1: 93,554,782 (GRCm39) L131Q probably damaging Het
Thbs1 C A 2: 117,944,874 (GRCm39) N229K probably damaging Het
Tmx2 A T 2: 84,506,186 (GRCm39) H89Q probably damaging Het
Trappc3l A T 10: 33,974,928 (GRCm39) R119* probably null Het
Ublcp1 G T 11: 44,349,104 (GRCm39) Y243* probably null Het
Usp24 C A 4: 106,271,601 (GRCm39) C2158* probably null Het
Usp34 A T 11: 23,383,206 (GRCm39) K2088N probably damaging Het
Vmn1r53 G C 6: 90,200,925 (GRCm39) S133C probably damaging Het
Vmn2r52 A G 7: 9,893,327 (GRCm39) V604A probably damaging Het
Vmn2r93 A G 17: 18,525,061 (GRCm39) K240E probably benign Het
Wdr13 T G X: 7,994,284 (GRCm39) D242A probably damaging Het
Wwp1 C T 4: 19,641,734 (GRCm39) probably null Het
Zan G A 5: 137,396,624 (GRCm39) H4311Y unknown Het
Zc3h12c C A 9: 52,055,383 (GRCm39) R123L possibly damaging Het
Zfp318 C T 17: 46,707,739 (GRCm39) P266S probably benign Het
Other mutations in Prkcd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Prkcd APN 14 30,324,379 (GRCm39) splice site probably benign
IGL00715:Prkcd APN 14 30,317,960 (GRCm39) missense probably damaging 1.00
IGL01914:Prkcd APN 14 30,329,383 (GRCm39) missense possibly damaging 0.49
IGL02177:Prkcd APN 14 30,327,844 (GRCm39) missense probably damaging 1.00
IGL02547:Prkcd APN 14 30,321,426 (GRCm39) missense probably damaging 1.00
IGL02681:Prkcd APN 14 30,323,190 (GRCm39) critical splice acceptor site probably null
Rigged UTSW 14 30,332,258 (GRCm39) start codon destroyed probably null 0.99
rigged2 UTSW 14 30,321,700 (GRCm39) missense probably damaging 1.00
IGL03014:Prkcd UTSW 14 30,329,294 (GRCm39) missense probably damaging 1.00
R0240:Prkcd UTSW 14 30,324,045 (GRCm39) missense probably damaging 0.97
R1385:Prkcd UTSW 14 30,329,362 (GRCm39) missense probably damaging 1.00
R1567:Prkcd UTSW 14 30,329,405 (GRCm39) missense probably benign 0.35
R2114:Prkcd UTSW 14 30,327,808 (GRCm39) missense probably damaging 1.00
R2983:Prkcd UTSW 14 30,321,435 (GRCm39) missense probably damaging 1.00
R3716:Prkcd UTSW 14 30,321,669 (GRCm39) missense probably benign 0.00
R4162:Prkcd UTSW 14 30,323,154 (GRCm39) missense probably damaging 0.98
R4164:Prkcd UTSW 14 30,323,154 (GRCm39) missense probably damaging 0.98
R4180:Prkcd UTSW 14 30,332,261 (GRCm39) utr 5 prime probably benign
R4637:Prkcd UTSW 14 30,320,722 (GRCm39) missense probably benign 0.00
R4750:Prkcd UTSW 14 30,332,258 (GRCm39) start codon destroyed probably null 0.99
R4756:Prkcd UTSW 14 30,321,623 (GRCm39) missense probably benign 0.00
R4849:Prkcd UTSW 14 30,321,700 (GRCm39) missense probably damaging 1.00
R4850:Prkcd UTSW 14 30,321,700 (GRCm39) missense probably damaging 1.00
R4893:Prkcd UTSW 14 30,321,382 (GRCm39) missense probably damaging 1.00
R4914:Prkcd UTSW 14 30,327,395 (GRCm39) critical splice donor site probably null
R4925:Prkcd UTSW 14 30,329,570 (GRCm39) missense probably damaging 0.98
R5644:Prkcd UTSW 14 30,329,370 (GRCm39) missense probably benign 0.06
R5832:Prkcd UTSW 14 30,327,778 (GRCm39) missense probably damaging 0.99
R5910:Prkcd UTSW 14 30,317,938 (GRCm39) missense probably benign 0.01
R6049:Prkcd UTSW 14 30,329,254 (GRCm39) missense possibly damaging 0.95
R6322:Prkcd UTSW 14 30,321,620 (GRCm39) missense probably damaging 1.00
R7177:Prkcd UTSW 14 30,321,664 (GRCm39) missense probably damaging 1.00
R7358:Prkcd UTSW 14 30,327,793 (GRCm39) missense probably benign
R7494:Prkcd UTSW 14 30,331,150 (GRCm39) missense probably benign 0.00
R7554:Prkcd UTSW 14 30,331,220 (GRCm39) missense probably damaging 0.96
R7778:Prkcd UTSW 14 30,327,772 (GRCm39) critical splice donor site probably null
R7810:Prkcd UTSW 14 30,320,407 (GRCm39) splice site probably null
R8020:Prkcd UTSW 14 30,331,201 (GRCm39) missense possibly damaging 0.58
R8145:Prkcd UTSW 14 30,324,019 (GRCm39) missense probably benign 0.03
R8417:Prkcd UTSW 14 30,331,208 (GRCm39) missense probably benign 0.36
R9009:Prkcd UTSW 14 30,329,297 (GRCm39) missense probably damaging 0.99
R9246:Prkcd UTSW 14 30,327,432 (GRCm39) missense probably damaging 1.00
R9528:Prkcd UTSW 14 30,323,768 (GRCm39) missense probably damaging 1.00
R9748:Prkcd UTSW 14 30,320,800 (GRCm39) missense possibly damaging 0.87
R9783:Prkcd UTSW 14 30,321,444 (GRCm39) missense probably damaging 0.99
Z1176:Prkcd UTSW 14 30,332,206 (GRCm39) missense possibly damaging 0.78
Predicted Primers
Posted On 2013-08-19