Incidental Mutation 'R4914:Prkcd'
ID 379859
Institutional Source Beutler Lab
Gene Symbol Prkcd
Ensembl Gene ENSMUSG00000021948
Gene Name protein kinase C, delta
Synonyms PKC[d], D14Ertd420e, Pkcd, PKCdelta
MMRRC Submission 042516-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.458) question?
Stock # R4914 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 30317311-30348167 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 30327395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022521] [ENSMUST00000112202] [ENSMUST00000112203] [ENSMUST00000112206] [ENSMUST00000112207] [ENSMUST00000112210] [ENSMUST00000112211] [ENSMUST00000112211]
AlphaFold P28867
Predicted Effect probably null
Transcript: ENSMUST00000022521
SMART Domains Protein: ENSMUSP00000022521
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 373 627 1.17e-97 SMART
S_TK_X 628 691 8.92e-25 SMART
Predicted Effect probably null
Transcript: ENSMUST00000112202
SMART Domains Protein: ENSMUSP00000107821
Gene: ENSMUSG00000021948

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 probably null
Transcript: ENSMUST00000112203
SMART Domains Protein: ENSMUSP00000107822
Gene: ENSMUSG00000021948

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 probably null
Transcript: ENSMUST00000112206
SMART Domains Protein: ENSMUSP00000107825
Gene: ENSMUSG00000021948

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 probably null
Transcript: ENSMUST00000112207
SMART Domains Protein: ENSMUSP00000107826
Gene: ENSMUSG00000021948

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 noncoding transcript
Transcript: ENSMUST00000135714
Predicted Effect probably null
Transcript: ENSMUST00000112210
SMART Domains Protein: ENSMUSP00000107829
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 probably null
Transcript: ENSMUST00000112211
SMART Domains Protein: ENSMUSP00000107830
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 373 627 1.17e-97 SMART
S_TK_X 628 691 8.92e-25 SMART
Predicted Effect probably null
Transcript: ENSMUST00000112211
SMART Domains Protein: ENSMUSP00000107830
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 373 627 1.17e-97 SMART
S_TK_X 628 691 8.92e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128135
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130736
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145806
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227078
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace G A 11: 105,870,423 (GRCm39) V281M probably damaging Het
Ap1b1 C T 11: 4,974,400 (GRCm39) T363I possibly damaging Het
Apobec2 T C 17: 48,730,153 (GRCm39) E171G probably benign Het
Arhgef1 T A 7: 24,623,264 (GRCm39) L436Q probably damaging Het
Atxn2 T A 5: 121,887,159 (GRCm39) D276E probably damaging Het
AU040320 A T 4: 126,729,469 (GRCm39) K544* probably null Het
Baz2b T A 2: 59,744,387 (GRCm39) T1373S possibly damaging Het
Bcas1 T C 2: 170,220,806 (GRCm39) D324G probably damaging Het
Bdp1 A G 13: 100,192,844 (GRCm39) V1330A probably benign Het
Bfsp1 C T 2: 143,669,391 (GRCm39) R396Q probably benign Het
Bpifb9b T A 2: 154,156,026 (GRCm39) probably null Het
Cabs1 T C 5: 88,128,296 (GRCm39) Y316H probably damaging Het
Carmil2 A G 8: 106,420,175 (GRCm39) K908E possibly damaging Het
Ccdc188 C A 16: 18,036,083 (GRCm39) P86Q probably benign Het
Cdh26 T C 2: 178,091,614 (GRCm39) S58P probably benign Het
Cemip2 G A 19: 21,786,653 (GRCm39) V472I probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dclk2 A T 3: 86,732,049 (GRCm39) probably null Het
Dennd5a A G 7: 109,500,296 (GRCm39) F943S probably damaging Het
Disp2 A T 2: 118,620,935 (GRCm39) S556C probably damaging Het
Dnai3 A G 3: 145,772,582 (GRCm39) I488T probably damaging Het
Dpp4 A T 2: 62,178,236 (GRCm39) M632K probably benign Het
E030030I06Rik G A 10: 21,990,197 (GRCm39) T192M possibly damaging Het
Ece2 C T 16: 20,462,820 (GRCm39) R582C probably damaging Het
Ehbp1 T C 11: 22,096,592 (GRCm39) D299G probably benign Het
Emc1 C T 4: 139,102,476 (GRCm39) R924* probably null Het
Etaa1 A T 11: 17,896,532 (GRCm39) S528R probably benign Het
Exoc2 A T 13: 31,060,796 (GRCm39) N569K probably benign Het
Fasn T G 11: 120,707,472 (GRCm39) N799T probably benign Het
Fbxo3 T G 2: 103,885,311 (GRCm39) N388K probably damaging Het
Fbxw16 C T 9: 109,267,245 (GRCm39) V329I probably benign Het
Fer1l4 T C 2: 155,873,220 (GRCm39) K1287E probably benign Het
Fermt1 A G 2: 132,748,760 (GRCm39) V621A probably damaging Het
Fnbp4 A G 2: 90,581,513 (GRCm39) T189A probably benign Het
Fut8 G T 12: 77,521,818 (GRCm39) A486S probably damaging Het
G6pd2 T A 5: 61,967,672 (GRCm39) Y482* probably null Het
Gfra1 A T 19: 58,255,522 (GRCm39) S308R probably damaging Het
Glp2r G T 11: 67,648,419 (GRCm39) Y94* probably null Het
Gper1 A G 5: 139,412,623 (GRCm39) I323V probably benign Het
Grm5 C A 7: 87,779,337 (GRCm39) R958S probably benign Het
H2-DMb2 A G 17: 34,369,503 (GRCm39) T85A probably benign Het
Hgsnat A G 8: 26,454,866 (GRCm39) S220P probably damaging Het
Hspa12a A T 19: 58,787,884 (GRCm39) M646K probably damaging Het
Inpp5f A T 7: 128,286,840 (GRCm39) D573V probably damaging Het
Jmjd1c A G 10: 67,054,750 (GRCm39) N344D probably damaging Het
Kif1c A G 11: 70,599,681 (GRCm39) E471G probably damaging Het
Lalba T A 15: 98,380,061 (GRCm39) N63I probably benign Het
Mcoln1 T A 8: 3,557,483 (GRCm39) L163* probably null Het
Mllt1 T C 17: 57,206,813 (GRCm39) T344A probably benign Het
Mpzl2 T A 9: 44,955,146 (GRCm39) D114E probably benign Het
Myef2 T A 2: 124,951,659 (GRCm39) K259* probably null Het
Myh8 C A 11: 67,183,510 (GRCm39) D740E probably damaging Het
Myo1b A T 1: 51,863,367 (GRCm39) probably null Het
Nfix T C 8: 85,498,458 (GRCm39) I172V probably benign Het
Or1b1 A T 2: 36,995,170 (GRCm39) I164N possibly damaging Het
Or2h2 T C 17: 37,396,883 (GRCm39) Y58C probably damaging Het
Or2w1b A T 13: 21,300,567 (GRCm39) Q235L probably benign Het
Or3a1b A T 11: 74,012,705 (GRCm39) I197F probably benign Het
Or5b106 T A 19: 13,123,355 (GRCm39) I223L possibly damaging Het
Orc1 T C 4: 108,461,755 (GRCm39) F584S probably damaging Het
Osgin1 C A 8: 120,169,283 (GRCm39) A60D possibly damaging Het
Pde4dip C A 3: 97,622,644 (GRCm39) V1522L probably benign Het
Phactr1 A G 13: 43,287,439 (GRCm39) T556A possibly damaging Het
Ppfia2 G C 10: 106,597,978 (GRCm39) L180F probably damaging Het
Ppm1k T A 6: 57,487,762 (GRCm39) N354Y probably damaging Het
Ppp1r1a A G 15: 103,446,265 (GRCm39) V14A probably damaging Het
Ranbp17 T C 11: 33,163,425 (GRCm39) S1082G probably benign Het
Rere T A 4: 150,703,601 (GRCm39) W1528R probably damaging Het
Rnf103 T A 6: 71,487,248 (GRCm39) F626L possibly damaging Het
Rsrc2 A G 5: 123,877,613 (GRCm39) probably benign Het
Scin T A 12: 40,119,373 (GRCm39) I552F possibly damaging Het
Scn3a T C 2: 65,291,799 (GRCm39) N1649S probably damaging Het
Slain2 T A 5: 73,115,609 (GRCm39) M448K probably benign Het
Slc25a54 T C 3: 109,018,395 (GRCm39) F292L probably benign Het
Slc4a1 A G 11: 102,243,279 (GRCm39) V784A probably damaging Het
Slco1b2 G A 6: 141,615,096 (GRCm39) V334I probably benign Het
Slf2 T G 19: 44,960,100 (GRCm39) D1022E probably damaging Het
Smg8 T C 11: 86,971,536 (GRCm39) E745G probably damaging Het
Smyd1 T G 6: 71,196,321 (GRCm39) I322L probably benign Het
Snx13 G A 12: 35,182,032 (GRCm39) V694I possibly damaging Het
Sox6 T C 7: 115,076,199 (GRCm39) D814G probably damaging Het
Spag6 A T 2: 18,750,360 (GRCm39) I469F probably benign Het
Spsb2 A C 6: 124,786,711 (GRCm39) E148A probably benign Het
Srprb C A 9: 103,079,147 (GRCm39) V747L possibly damaging Het
Stam A G 2: 14,107,227 (GRCm39) E16G probably damaging Het
Taar5 A T 10: 23,847,468 (GRCm39) I289F possibly damaging Het
Tgif1 C T 17: 71,152,242 (GRCm39) R70H probably damaging Het
Top2a A T 11: 98,893,786 (GRCm39) L1036H probably damaging Het
Tph1 T A 7: 46,303,283 (GRCm39) I232F probably damaging Het
Ttn T C 2: 76,577,175 (GRCm39) T24573A probably damaging Het
Tub C T 7: 108,620,161 (GRCm39) R102* probably null Het
Ube2n T A 10: 95,377,607 (GRCm39) W129R possibly damaging Het
Usp8 A T 2: 126,562,060 (GRCm39) K85* probably null Het
Vmn2r81 A T 10: 79,106,357 (GRCm39) K445M probably null Het
Vps45 T C 3: 95,926,943 (GRCm39) T535A probably damaging Het
Zfp1007 A G 5: 109,826,396 (GRCm39) S59P probably damaging Het
Zfp157 T C 5: 138,454,557 (GRCm39) S252P possibly damaging Het
Zfp605 T A 5: 110,275,567 (GRCm39) C228* probably null Het
Zfp791 T A 8: 85,837,580 (GRCm39) I95L 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
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
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 PCR Primer
(F):5'- AAGGGTCCTTTGACTTAGTGTAAG -3'
(R):5'- TGGGAGAACTAGCATGTGACC -3'

Sequencing Primer
(F):5'- CTTAGTGTAAGAACTATCAGAGCCG -3'
(R):5'- GAGAACTAGCATGTGACCCCCTTAC -3'
Posted On 2016-04-15