Incidental Mutation 'R4849:Prkcd'
ID 373423
Institutional Source Beutler Lab
Gene Symbol Prkcd
Ensembl Gene ENSMUSG00000021948
Gene Name protein kinase C, delta
Synonyms PKC[d], D14Ertd420e, Pkcd, PKCdelta
MMRRC Submission 042461-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.420) question?
Stock # R4849 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 30317311-30348167 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30321700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 498 (L498P)
Ref Sequence ENSEMBL: ENSMUSP00000107830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022521] [ENSMUST00000112202] [ENSMUST00000112203] [ENSMUST00000112206] [ENSMUST00000112207] [ENSMUST00000112210] [ENSMUST00000112211]
AlphaFold P28867
Predicted Effect probably damaging
Transcript: ENSMUST00000022521
AA Change: L498P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022521
Gene: ENSMUSG00000021948
AA Change: L498P

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: L383P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107821
Gene: ENSMUSG00000021948
AA Change: L383P

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 damaging
Transcript: ENSMUST00000112203
AA Change: L357P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107822
Gene: ENSMUSG00000021948
AA Change: L357P

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 damaging
Transcript: ENSMUST00000112206
AA Change: L383P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107825
Gene: ENSMUSG00000021948
AA Change: L383P

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 damaging
Transcript: ENSMUST00000112207
AA Change: L357P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107826
Gene: ENSMUSG00000021948
AA Change: L357P

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 probably damaging
Transcript: ENSMUST00000112208
AA Change: L472P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107827
Gene: ENSMUSG00000021948
AA Change: L472P

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 damaging
Transcript: ENSMUST00000112210
AA Change: L472P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107829
Gene: ENSMUSG00000021948
AA Change: L472P

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 damaging
Transcript: ENSMUST00000112211
AA Change: L498P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107830
Gene: ENSMUSG00000021948
AA Change: L498P

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: ENSMUST00000135714
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128135
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130736
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145806
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140701
Meta Mutation Damage Score 0.9738 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (90/92)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 G T 7: 28,314,877 (GRCm39) R239S possibly damaging Het
Angptl1 C A 1: 156,684,735 (GRCm39) N301K probably benign Het
Ankrd26 T A 6: 118,509,257 (GRCm39) T603S probably benign Het
App T C 16: 84,853,322 (GRCm39) D252G unknown Het
Atxn3 A G 12: 101,900,627 (GRCm39) S219P probably benign Het
Birc6 T C 17: 74,954,383 (GRCm39) S3397P probably damaging Het
Bivm A G 1: 44,182,033 (GRCm39) I414V possibly damaging Het
Cemip A G 7: 83,584,945 (GRCm39) F1324L possibly damaging Het
Ckap5 T A 2: 91,445,616 (GRCm39) N1724K probably damaging Het
Corin T A 5: 72,460,178 (GRCm39) M1035L probably damaging Het
Ctnna3 T C 10: 64,709,094 (GRCm39) I711T probably damaging Het
Cts6 A T 13: 61,349,415 (GRCm39) W98R probably null Het
Dip2a A G 10: 76,130,367 (GRCm39) S580P probably damaging Het
Dock6 A G 9: 21,723,068 (GRCm39) probably null Het
Dusp15 T A 2: 152,791,002 (GRCm39) T32S probably damaging Het
Eogt T A 6: 97,093,016 (GRCm39) N387I probably damaging Het
Evx2 T C 2: 74,489,675 (GRCm39) D29G probably benign Het
Fat1 A G 8: 45,466,007 (GRCm39) N1422S probably benign Het
Fat2 T C 11: 55,201,463 (GRCm39) D537G probably damaging Het
Fat3 A C 9: 16,289,244 (GRCm39) I93S probably benign Het
Fem1b T C 9: 62,704,576 (GRCm39) E228G probably damaging Het
Fh1 A G 1: 175,448,072 (GRCm39) T25A probably benign Het
Fndc3b A G 3: 27,514,097 (GRCm39) W695R probably damaging Het
Gaa G A 11: 119,163,813 (GRCm39) V222I possibly damaging Het
Ggnbp1 T C 17: 27,251,947 (GRCm39) probably null Het
Gipc1 A G 8: 84,388,756 (GRCm39) Y154C probably benign Het
Gm5356 G T 8: 89,913,670 (GRCm39) noncoding transcript Het
Gnl1 T A 17: 36,298,603 (GRCm39) probably null Het
Gpcpd1 C T 2: 132,376,019 (GRCm39) G605R probably damaging Het
Guca1a T C 17: 47,705,662 (GRCm39) T177A possibly damaging Het
Ifit1bl1 T C 19: 34,572,076 (GRCm39) E127G probably damaging Het
Ift81 A T 5: 122,729,282 (GRCm39) I350N probably damaging Het
Ikbke GCC G 1: 131,203,004 (GRCm39) probably null Het
Ing4 A G 6: 125,020,946 (GRCm39) R23G probably damaging Het
Ins1 A G 19: 52,253,384 (GRCm39) N108S probably damaging Het
Iqce A T 5: 140,679,214 (GRCm39) M72K possibly damaging Het
Itga3 C A 11: 94,967,097 (GRCm39) M22I probably benign Het
Kctd18 T C 1: 58,001,152 (GRCm39) E201G probably damaging Het
Klc1 A G 12: 111,748,129 (GRCm39) N344S probably damaging Het
Klrb1f A T 6: 129,033,347 (GRCm39) I192F probably damaging Het
Klrg2 A T 6: 38,607,214 (GRCm39) probably null Het
Kntc1 A C 5: 123,897,128 (GRCm39) I164L probably benign Het
Ltf T A 9: 110,855,058 (GRCm39) I357K probably benign Het
Mr1 T C 1: 155,006,436 (GRCm39) T304A probably benign Het
Msh6 C T 17: 88,290,947 (GRCm39) R178C possibly damaging Het
Mtch1 T C 17: 29,566,565 (GRCm39) D66G probably benign Het
Mtmr7 A G 8: 41,062,040 (GRCm39) V15A probably benign Het
Mtss2 A T 8: 111,452,875 (GRCm39) H40L possibly damaging Het
Mxra8 A G 4: 155,925,331 (GRCm39) probably benign Het
Myo3b T C 2: 70,075,253 (GRCm39) L535P probably damaging Het
Neurl2 T A 2: 164,674,739 (GRCm39) probably null Het
Nfia A C 4: 97,970,048 (GRCm39) T503P probably damaging Het
Noa1 T C 5: 77,454,179 (GRCm39) E487G possibly damaging Het
Nuak1 A T 10: 84,211,143 (GRCm39) V315D probably damaging Het
Nup205 A G 6: 35,207,505 (GRCm39) N1519S possibly damaging Het
Or10x1 T A 1: 174,196,966 (GRCm39) I161K probably damaging Het
Or1l4b T C 2: 37,036,266 (GRCm39) L14P probably damaging Het
Or1o1 T C 17: 37,716,589 (GRCm39) V50A probably benign Het
Or51f1e A G 7: 102,747,526 (GRCm39) I193V possibly damaging Het
Or6b13 G T 7: 139,782,340 (GRCm39) C114* probably null Het
Or9s18 G A 13: 65,300,493 (GRCm39) V152M possibly damaging Het
Peli1 T A 11: 21,098,528 (GRCm39) probably benign Het
Ppp6r1 A G 7: 4,646,206 (GRCm39) L175P probably damaging Het
Prss30 T A 17: 24,191,769 (GRCm39) I251F probably benign Het
Psme3 A T 11: 101,207,907 (GRCm39) N21Y probably benign Het
Ptpra T C 2: 130,374,081 (GRCm39) Y271H probably damaging Het
Ralgapa1 T A 12: 55,745,588 (GRCm39) N1303Y probably damaging Het
Rims4 T C 2: 163,707,463 (GRCm39) I121V probably benign Het
Rnf123 A T 9: 107,933,290 (GRCm39) L1149Q probably damaging Het
Ryr3 T A 2: 112,738,807 (GRCm39) L593F probably damaging Het
Sec23b T C 2: 144,427,519 (GRCm39) F582S probably damaging Het
Sgpl1 T C 10: 60,940,297 (GRCm39) K335R probably benign Het
Sirpa C T 2: 129,451,163 (GRCm39) T141I probably damaging Het
Slit1 G T 19: 41,637,983 (GRCm39) A270E probably benign Het
Snap91 T C 9: 86,674,613 (GRCm39) T533A possibly damaging Het
Sphkap T G 1: 83,255,105 (GRCm39) E881D probably benign Het
Sptan1 C A 2: 29,901,054 (GRCm39) R1407S probably damaging Het
Tfdp1 A G 8: 13,423,895 (GRCm39) T353A probably benign Het
Ttyh1 A G 7: 4,125,533 (GRCm39) I62V possibly damaging Het
Vwde A T 6: 13,196,047 (GRCm39) V326D possibly damaging Het
Zfp398 T C 6: 47,836,446 (GRCm39) I82T possibly damaging Het
Zp1 A G 19: 10,896,198 (GRCm39) Y176H possibly damaging 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
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 PCR Primer
(F):5'- TCTGGTTCTACCCACCCAAG -3'
(R):5'- GGACTAAGGTACTGTGTGTCAC -3'

Sequencing Primer
(F):5'- CAAGGCCAAAAGCATAGCTG -3'
(R):5'- GGTACTGTGTGTCACATTTAACACCG -3'
Posted On 2016-03-01