Incidental Mutation 'R2850:Prkd3'
ID 252138
Institutional Source Beutler Lab
Gene Symbol Prkd3
Ensembl Gene ENSMUSG00000024070
Gene Name protein kinase D3
Synonyms 4930557O20Rik, PKD3, 5730497N19Rik, Prkcn
MMRRC Submission 040443-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R2850 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 79256834-79328245 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79262025 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 763 (V763A)
Ref Sequence ENSEMBL: ENSMUSP00000132004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003191] [ENSMUST00000118768] [ENSMUST00000119284] [ENSMUST00000168887]
AlphaFold Q8K1Y2
Predicted Effect possibly damaging
Transcript: ENSMUST00000003191
AA Change: V763A

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000003191
Gene: ENSMUSG00000024070
AA Change: V763A

DomainStartEndE-ValueType
C1 155 204 1.95e-13 SMART
C1 272 321 1.26e-16 SMART
PH 417 534 1.18e-10 SMART
S_TKc 575 831 4.5e-90 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000118768
AA Change: V669A

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113232
Gene: ENSMUSG00000024070
AA Change: V669A

DomainStartEndE-ValueType
C1 60 109 1.95e-13 SMART
C1 177 226 1.26e-16 SMART
PH 322 439 1.18e-10 SMART
S_TKc 481 737 4.5e-90 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000119284
AA Change: V764A

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113395
Gene: ENSMUSG00000024070
AA Change: V764A

DomainStartEndE-ValueType
C1 155 204 1.95e-13 SMART
C1 272 321 1.26e-16 SMART
PH 417 534 1.18e-10 SMART
S_TKc 576 832 4.5e-90 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000168887
AA Change: V763A

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132004
Gene: ENSMUSG00000024070
AA Change: V763A

DomainStartEndE-ValueType
C1 155 204 1.95e-13 SMART
C1 272 321 1.26e-16 SMART
PH 417 534 1.18e-10 SMART
S_TKc 575 831 4.5e-90 SMART
Meta Mutation Damage Score 0.9362 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the multigene protein kinase D family of serine/threonine kinases, which bind diacylglycerol and phorbol esters. Members of this family are characterized by an N-terminal regulatory domain comprised of a tandem repeat of cysteine-rich zinc-finger motifs and a pleckstrin domain. The C-terminal region contains the catalytic domain and is distantly related to calcium-regulated kinases. Catalytic activity of this enzyme promotes its nuclear localization. This protein has been implicated in a variety of functions including negative regulation of human airway epithelial barrier formation, growth regulation of breast and prostate cancer cells, and vesicle trafficking. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygous mutation of this gene results in abnormal vertebral trabecular bone morphology and abnormal femur morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T A 13: 12,290,065 (GRCm39) T734S probably damaging Het
Ago1 T C 4: 126,336,868 (GRCm39) probably benign Het
Ahi1 C T 10: 20,876,492 (GRCm39) T801I probably benign Het
Alms1 T C 6: 85,598,281 (GRCm39) S1505P probably benign Het
Alms1 C A 6: 85,644,945 (GRCm39) probably benign Het
Anxa6 T A 11: 54,901,852 (GRCm39) Y95F possibly damaging Het
Cacna1b C T 2: 24,651,800 (GRCm39) M126I probably damaging Het
Clk1 A G 1: 58,451,438 (GRCm39) L457S probably damaging Het
Cngb3 T C 4: 19,415,690 (GRCm39) I400T possibly damaging Het
Cntnap5c T A 17: 58,717,343 (GRCm39) probably benign Het
Corin A G 5: 72,462,298 (GRCm39) V837A probably damaging Het
Ctr9 C T 7: 110,652,653 (GRCm39) R984C unknown Het
Cubn G A 2: 13,327,764 (GRCm39) T2687I probably damaging Het
Cypt3 T A X: 152,342,274 (GRCm39) N168K probably damaging Het
E330020D12Rik A G 1: 153,282,336 (GRCm39) noncoding transcript Het
Fbxl4 T C 4: 22,403,624 (GRCm39) M399T probably benign Het
Fbxo22 T C 9: 55,130,699 (GRCm39) F323L probably damaging Het
Fnip1 A T 11: 54,393,503 (GRCm39) E646D probably benign Het
Gid4 G A 11: 60,329,400 (GRCm39) probably null Het
Gnb5 A T 9: 75,234,511 (GRCm39) D70V probably damaging Het
Gpank1 A G 17: 35,343,557 (GRCm39) S346G probably benign Het
Gtf3c6 T C 10: 40,130,254 (GRCm39) probably benign Het
Hdx T C X: 110,502,720 (GRCm39) I562V probably benign Het
Ifrd2 T C 9: 107,468,908 (GRCm39) probably benign Het
Itch A C 2: 155,044,141 (GRCm39) Q482P probably benign Het
Kif11 C A 19: 37,397,941 (GRCm39) D630E probably benign Het
Lpl G T 8: 69,352,164 (GRCm39) E372* probably null Het
Mrps26 T C 2: 130,406,967 (GRCm39) V198A probably benign Het
Mucl1 T C 15: 103,782,348 (GRCm39) N201S possibly damaging Het
Nedd4 C T 9: 72,632,356 (GRCm39) L397F possibly damaging Het
Nfat5 A G 8: 108,020,492 (GRCm39) D12G probably damaging Het
Or5b102 T C 19: 13,040,934 (GRCm39) L53P probably damaging Het
Pik3r3 A G 4: 116,127,981 (GRCm39) probably benign Het
Pkd1l3 T A 8: 110,350,622 (GRCm39) V489E possibly damaging Het
Pkhd1 T C 1: 20,579,300 (GRCm39) E1802G possibly damaging Het
Plb1 T A 5: 32,450,568 (GRCm39) S370T probably benign Het
Ppat G A 5: 77,067,222 (GRCm39) T337I probably benign Het
Prr9 A T 3: 92,030,476 (GRCm39) S55T probably benign Het
Rbpms G T 8: 34,324,405 (GRCm39) N108K possibly damaging Het
Rc3h2 A T 2: 37,267,427 (GRCm39) D972E probably benign Het
Rrbp1 C T 2: 143,791,269 (GRCm39) R1378Q probably benign Het
Slc26a7 T A 4: 14,593,806 (GRCm39) probably benign Het
Stard6 T A 18: 70,616,522 (GRCm39) H60Q probably benign Het
Sult6b2 T C 6: 142,743,613 (GRCm39) T138A probably benign Het
Th G A 7: 142,447,812 (GRCm39) Q329* probably null Het
Tmco3 A G 8: 13,345,024 (GRCm39) H268R probably benign Het
Tnn T C 1: 159,966,857 (GRCm39) D429G probably benign Het
Tnrc6a G A 7: 122,779,023 (GRCm39) G1245R probably damaging Het
Trem3 C A 17: 48,556,669 (GRCm39) L47M probably benign Het
Trpm6 T A 19: 18,769,454 (GRCm39) C307S possibly damaging Het
Ube2j1 T A 4: 33,049,696 (GRCm39) N231K probably benign Het
Urb1 A G 16: 90,571,144 (GRCm39) Y1222H probably benign Het
Wdr81 A T 11: 75,341,998 (GRCm39) S1090T probably damaging Het
Ythdf3 T C 3: 16,257,982 (GRCm39) probably benign Het
Zfp280d A G 9: 72,219,371 (GRCm39) T183A probably benign Het
Zfp354c G A 11: 50,706,158 (GRCm39) Q306* probably null Het
Zp2 T C 7: 119,737,529 (GRCm39) H252R probably benign Het
Other mutations in Prkd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Prkd3 APN 17 79,261,952 (GRCm39) missense probably benign 0.00
IGL01775:Prkd3 APN 17 79,320,189 (GRCm39) missense probably damaging 1.00
IGL01875:Prkd3 APN 17 79,264,635 (GRCm39) missense possibly damaging 0.95
IGL01892:Prkd3 APN 17 79,279,930 (GRCm39) missense probably benign 0.13
FR4304:Prkd3 UTSW 17 79,283,249 (GRCm39) splice site probably null
R0070:Prkd3 UTSW 17 79,261,939 (GRCm39) missense probably damaging 1.00
R0070:Prkd3 UTSW 17 79,261,939 (GRCm39) missense probably damaging 1.00
R0374:Prkd3 UTSW 17 79,264,644 (GRCm39) missense probably null 1.00
R0688:Prkd3 UTSW 17 79,264,662 (GRCm39) missense probably damaging 0.99
R1112:Prkd3 UTSW 17 79,273,837 (GRCm39) missense probably damaging 1.00
R1364:Prkd3 UTSW 17 79,264,687 (GRCm39) missense probably damaging 1.00
R1382:Prkd3 UTSW 17 79,264,674 (GRCm39) missense probably damaging 1.00
R1459:Prkd3 UTSW 17 79,278,796 (GRCm39) missense probably damaging 1.00
R1522:Prkd3 UTSW 17 79,260,125 (GRCm39) missense probably damaging 1.00
R1645:Prkd3 UTSW 17 79,263,949 (GRCm39) critical splice donor site probably null
R2035:Prkd3 UTSW 17 79,282,802 (GRCm39) critical splice donor site probably null
R2187:Prkd3 UTSW 17 79,282,983 (GRCm39) missense probably benign
R2250:Prkd3 UTSW 17 79,275,507 (GRCm39) missense probably benign 0.15
R3625:Prkd3 UTSW 17 79,292,733 (GRCm39) missense probably damaging 1.00
R3773:Prkd3 UTSW 17 79,266,535 (GRCm39) missense possibly damaging 0.52
R3973:Prkd3 UTSW 17 79,266,570 (GRCm39) splice site probably benign
R4089:Prkd3 UTSW 17 79,278,817 (GRCm39) missense possibly damaging 0.64
R4407:Prkd3 UTSW 17 79,290,987 (GRCm39) missense probably damaging 1.00
R4453:Prkd3 UTSW 17 79,290,975 (GRCm39) missense probably damaging 1.00
R4697:Prkd3 UTSW 17 79,268,600 (GRCm39) missense probably benign 0.02
R4715:Prkd3 UTSW 17 79,259,366 (GRCm39) missense possibly damaging 0.73
R4754:Prkd3 UTSW 17 79,264,043 (GRCm39) missense probably damaging 1.00
R4955:Prkd3 UTSW 17 79,260,156 (GRCm39) missense probably null 0.95
R5412:Prkd3 UTSW 17 79,262,140 (GRCm39) missense possibly damaging 0.85
R6163:Prkd3 UTSW 17 79,273,784 (GRCm39) missense possibly damaging 0.94
R6280:Prkd3 UTSW 17 79,289,360 (GRCm39) missense probably damaging 0.97
R7074:Prkd3 UTSW 17 79,282,236 (GRCm39) nonsense probably null
R7153:Prkd3 UTSW 17 79,273,784 (GRCm39) missense probably benign 0.04
R7335:Prkd3 UTSW 17 79,261,995 (GRCm39) missense probably damaging 0.99
R7492:Prkd3 UTSW 17 79,269,974 (GRCm39) nonsense probably null
R7819:Prkd3 UTSW 17 79,279,930 (GRCm39) missense probably benign 0.13
R7962:Prkd3 UTSW 17 79,315,691 (GRCm39) start codon destroyed not run
R8884:Prkd3 UTSW 17 79,282,193 (GRCm39) missense probably damaging 0.99
R8956:Prkd3 UTSW 17 79,278,883 (GRCm39) missense probably damaging 0.98
R9039:Prkd3 UTSW 17 79,280,003 (GRCm39) missense probably benign 0.01
R9110:Prkd3 UTSW 17 79,292,751 (GRCm39) missense probably damaging 1.00
R9139:Prkd3 UTSW 17 79,269,969 (GRCm39) missense possibly damaging 0.55
R9219:Prkd3 UTSW 17 79,273,628 (GRCm39) missense probably benign 0.13
R9399:Prkd3 UTSW 17 79,264,719 (GRCm39) missense probably damaging 1.00
R9466:Prkd3 UTSW 17 79,264,049 (GRCm39) missense probably damaging 0.97
R9566:Prkd3 UTSW 17 79,292,652 (GRCm39) missense probably damaging 1.00
X0063:Prkd3 UTSW 17 79,264,042 (GRCm39) missense probably damaging 1.00
X0066:Prkd3 UTSW 17 79,268,611 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAAGAGACGGGATGATTTTGATC -3'
(R):5'- CACTGAGCATAGCTAGGGACAG -3'

Sequencing Primer
(F):5'- CCCAAAGATTTCAGACTAAAGGTG -3'
(R):5'- CATAGCTAGGGACAGGTATTGATAC -3'
Posted On 2014-12-04