Incidental Mutation 'R7177:Prkcd'
ID 558719
Institutional Source Beutler Lab
Gene Symbol Prkcd
Ensembl Gene ENSMUSG00000021948
Gene Name protein kinase C, delta
Synonyms PKC[d], D14Ertd420e, Pkcd, PKCdelta
MMRRC Submission 045268-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.458) question?
Stock # R7177 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 30317311-30348167 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30321664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 510 (H510L)
Ref Sequence ENSEMBL: ENSMUSP00000022521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022521] [ENSMUST00000112202] [ENSMUST00000112203] [ENSMUST00000112206] [ENSMUST00000112207] [ENSMUST00000112210] [ENSMUST00000112211]
AlphaFold P28867
PDB Structure PROTEIN KINASE C DELTA CYS2 DOMAIN [X-RAY DIFFRACTION]
PROTEIN KINASE C DELTA CYS2 DOMAIN COMPLEXED WITH PHORBOL-13-ACETATE [X-RAY DIFFRACTION]
Structural and functional characterization of an anesthetic binding site in the second cysteine-rich domain of protein kinase Cdelta [X-RAY DIFFRACTION]
Structural and functional characterization of an anesthetic binding site in the second cysteine-rich domain of protein kinase Cdelta [X-RAY DIFFRACTION]
Structural and functional characterization of an anesthetic binding site in the second cysteine-rich domain of protein kinase Cdelta [X-RAY DIFFRACTION]
Structural and functional characterization of an anesthetic binding site in the second cysteine-rich domain of protein kinase C delta [X-RAY DIFFRACTION]
Structural and functional characterization of an anesthetic binding site in the second cysteine-rich domain of protein kinase C delta [X-RAY DIFFRACTION]
Structural and functional characterization of an anesthetic binding site in the second cysteine-rich domain of protein kinase C delta [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000022521
AA Change: H510L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022521
Gene: ENSMUSG00000021948
AA Change: H510L

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: H395L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107821
Gene: ENSMUSG00000021948
AA Change: H395L

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: H369L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107822
Gene: ENSMUSG00000021948
AA Change: H369L

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: H395L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107825
Gene: ENSMUSG00000021948
AA Change: H395L

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: H369L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107826
Gene: ENSMUSG00000021948
AA Change: H369L

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: ENSMUST00000112210
AA Change: H484L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107829
Gene: ENSMUSG00000021948
AA Change: H484L

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: H510L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107830
Gene: ENSMUSG00000021948
AA Change: H510L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik T C 9: 53,325,685 (GRCm39) L74S probably damaging Het
5730409E04Rik A G 4: 126,505,525 (GRCm39) S18G probably benign Het
Adam29 A G 8: 56,325,659 (GRCm39) I265T probably benign Het
Aff4 C T 11: 53,297,466 (GRCm39) S896L probably benign Het
Ankrd27 T C 7: 35,318,822 (GRCm39) I571T probably damaging Het
Bdp1 C A 13: 100,186,478 (GRCm39) R1658I probably damaging Het
Carm1 C T 9: 21,458,323 (GRCm39) T7M unknown Het
Ccdc183 A G 2: 25,506,296 (GRCm39) V100A probably damaging Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Ceacam2 T G 7: 25,220,341 (GRCm39) D239A probably benign Het
Cfap96 T A 8: 46,423,444 (GRCm39) E89D possibly damaging Het
Cimap1c T A 9: 56,757,262 (GRCm39) M139L possibly damaging Het
Cmya5 T C 13: 93,231,836 (GRCm39) D1084G probably benign Het
Cog5 T A 12: 31,810,888 (GRCm39) I194K probably damaging Het
Col20a1 C T 2: 180,636,007 (GRCm39) Q211* probably null Het
Col9a1 T A 1: 24,234,498 (GRCm39) L13Q unknown Het
Cracr2a A T 6: 127,585,669 (GRCm39) M156L probably benign Het
Cts8 C T 13: 61,399,505 (GRCm39) M151I possibly damaging Het
Cyp2ab1 A T 16: 20,135,469 (GRCm39) L11Q probably null Het
Dhrs13 T A 11: 77,925,208 (GRCm39) C160S probably benign Het
Enthd1 T A 15: 80,358,415 (GRCm39) E368D probably damaging Het
Fbh1 A G 2: 11,760,522 (GRCm39) I676T probably damaging Het
Fcgrt T C 7: 44,751,421 (GRCm39) R176G probably benign Het
Gatd1 A G 7: 140,990,947 (GRCm39) F67L possibly damaging Het
Gm4353 G A 7: 115,683,727 (GRCm39) P23S probably damaging Het
Gm6882 T A 7: 21,161,677 (GRCm39) I64F possibly damaging Het
Grwd1 A T 7: 45,480,204 (GRCm39) M1K probably null Het
Hook2 T A 8: 85,718,046 (GRCm39) S58T probably benign Het
Iqch T G 9: 63,329,117 (GRCm39) *1072C probably null Het
Kmt2d G A 15: 98,748,267 (GRCm39) T3019I unknown Het
Lmx1a T C 1: 167,674,247 (GRCm39) S356P probably benign Het
Lrig3 A G 10: 125,842,712 (GRCm39) M546V probably benign Het
Lrrc1 C A 9: 77,379,504 (GRCm39) E96* probably null Het
Lrtm2 C A 6: 119,294,113 (GRCm39) M339I probably damaging Het
Map10 T C 8: 126,398,584 (GRCm39) V659A probably benign Het
Map7d1 A G 4: 126,130,778 (GRCm39) C384R probably damaging Het
Mcur1 T C 13: 43,698,012 (GRCm39) D296G probably damaging Het
Mettl24 A T 10: 40,686,508 (GRCm39) H295L probably damaging Het
Mgat4f T C 1: 134,318,163 (GRCm39) S312P probably benign Het
Mpl A G 4: 118,305,741 (GRCm39) probably null Het
Mrps5 T C 2: 127,437,617 (GRCm39) V148A probably benign Het
N4bp2 T C 5: 65,964,891 (GRCm39) V980A probably damaging Het
Ncaph A T 2: 126,958,506 (GRCm39) D504E probably damaging Het
Nxph1 A G 6: 9,247,497 (GRCm39) N156S probably damaging Het
Or2t26 T A 11: 49,040,012 (GRCm39) C309* probably null Het
Or4f14b T A 2: 111,775,501 (GRCm39) Q100L probably damaging Het
Pafah1b3 T A 7: 24,994,657 (GRCm39) I186L probably benign Het
Papola C A 12: 105,775,790 (GRCm39) N235K possibly damaging Het
Pcnx3 A T 19: 5,737,527 (GRCm39) M98K probably benign Het
Pip4p1 A C 14: 51,167,634 (GRCm39) M104R possibly damaging Het
Pkhd1l1 A G 15: 44,330,800 (GRCm39) N125S probably damaging Het
Pls1 T A 9: 95,655,612 (GRCm39) H380L probably benign Het
Plxna1 T C 6: 89,300,311 (GRCm39) T1591A possibly damaging Het
Pparg T G 6: 115,418,581 (GRCm39) S147A probably benign Het
Prdm10 T C 9: 31,279,003 (GRCm39) S1025P probably benign Het
Ptprh T A 7: 4,572,480 (GRCm39) E499D possibly damaging Het
Rad51ap1 A G 6: 126,901,983 (GRCm39) S256P probably benign Het
Rad54b A G 4: 11,599,755 (GRCm39) T320A probably damaging Het
Rnf207 A G 4: 152,396,634 (GRCm39) I459T probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Ryr3 A T 2: 112,731,188 (GRCm39) D727E probably damaging Het
Sdk2 C T 11: 113,720,795 (GRCm39) R1378H possibly damaging Het
Slc7a11 A G 3: 50,397,680 (GRCm39) S11P probably benign Het
Sox4 A G 13: 29,137,000 (GRCm39) V2A probably damaging Het
Srf A G 17: 46,866,318 (GRCm39) F146S probably damaging Het
Srrm2 T C 17: 24,035,747 (GRCm39) V797A unknown Het
Stk32c T C 7: 138,684,218 (GRCm39) D463G possibly damaging Het
Syne2 C A 12: 76,018,654 (GRCm39) Y3384* probably null Het
Tektl1 T C 10: 78,588,324 (GRCm39) D162G probably damaging Het
Traip T A 9: 107,838,184 (GRCm39) M139K possibly damaging Het
Trappc2l T A 8: 123,341,051 (GRCm39) F100Y probably damaging Het
Ush1c T C 7: 45,878,643 (GRCm39) D124G probably damaging Het
Uty A G Y: 1,099,691 (GRCm39) V1168A probably benign Het
Vmn2r25 T C 6: 123,816,882 (GRCm39) D233G possibly damaging Het
Zdbf2 C T 1: 63,334,120 (GRCm39) R31C 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
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
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'- AAGGAGTACTTCAGGCCCTG -3'
(R):5'- GGGACTAAGGTACTGTGTGTCAC -3'

Sequencing Primer
(F):5'- TACTTCAGGCCCTGCAGGATC -3'
(R):5'- GGTACTGTGTGTCACATTTAACACCG -3'
Posted On 2019-06-26