Incidental Mutation 'R7900:Prkd2'
ID 609940
Institutional Source Beutler Lab
Gene Symbol Prkd2
Ensembl Gene ENSMUSG00000041187
Gene Name protein kinase D2
Synonyms PKD2
MMRRC Submission 045952-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7900 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 16576827-16604386 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16587269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 405 (V405A)
Ref Sequence ENSEMBL: ENSMUSP00000083273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086104] [ENSMUST00000168093]
AlphaFold Q8BZ03
Predicted Effect probably benign
Transcript: ENSMUST00000086104
AA Change: V405A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000083273
Gene: ENSMUSG00000041187
AA Change: V405A

DomainStartEndE-ValueType
low complexity region 2 43 N/A INTRINSIC
C1 139 188 2.87e-11 SMART
C1 266 315 1.28e-17 SMART
low complexity region 353 373 N/A INTRINSIC
PH 399 512 2.07e-6 SMART
S_TKc 552 808 6.12e-92 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168093
AA Change: V405A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000131192
Gene: ENSMUSG00000041187
AA Change: V405A

DomainStartEndE-ValueType
low complexity region 2 43 N/A INTRINSIC
C1 139 188 2.87e-11 SMART
C1 266 315 1.28e-17 SMART
low complexity region 353 373 N/A INTRINSIC
PH 399 512 2.07e-6 SMART
S_TKc 552 808 6.12e-92 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the protein kinase D (PKD) family of serine/threonine protein kinases. This kinase can be activated by phorbol esters as well as by gastrin via the cholecystokinin B receptor (CCKBR) in gastric cancer cells. It can bind to diacylglycerol (DAG) in the trans-Golgi network (TGN) and may regulate basolateral membrane protein exit from TGN. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit impaired IgM and IgG1 antigen responses and CD4+ and CD8+ T cell production of IL2 and IFN-gamma in response to TCR stimulation. Mice homozygous for a gene trap allele exhibit normal T lymphocyte maturation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530084C06Rik G T 13: 31,742,978 (GRCm39) R92S unknown Het
Adamtsl5 A G 10: 80,177,735 (GRCm39) F309S probably damaging Het
Ankle1 C T 8: 71,860,061 (GRCm39) T213I probably damaging Het
C4b A G 17: 34,958,751 (GRCm39) S528P probably benign Het
Camk2a A G 18: 61,090,438 (GRCm39) Y222C probably damaging Het
Cnst A G 1: 179,450,453 (GRCm39) D639G probably damaging Het
Ctbp2 A C 7: 132,616,328 (GRCm39) S202R probably benign Het
Cwf19l2 G T 9: 3,460,107 (GRCm39) L798F probably damaging Het
Cyp11a1 T A 9: 57,923,667 (GRCm39) V124E possibly damaging Het
Ddx3y C T Y: 1,266,594 (GRCm39) probably null Het
Dlst G T 12: 85,177,292 (GRCm39) R346L probably benign Het
Dnah2 A G 11: 69,409,254 (GRCm39) S375P probably damaging Het
Dnm3 T A 1: 162,182,940 (GRCm39) Y125F probably benign Het
Dock9 C T 14: 121,783,491 (GRCm39) A2011T possibly damaging Het
Efr3a T A 15: 65,719,984 (GRCm39) probably null Het
Egln1 A T 8: 125,640,879 (GRCm39) I319N possibly damaging Het
Gata3 T A 2: 9,863,461 (GRCm39) N351I probably damaging Het
Gjd3 T C 11: 102,690,920 (GRCm39) N361S probably benign Het
Gpcpd1 T C 2: 132,376,659 (GRCm39) T546A probably damaging Het
Gpihbp1 T C 15: 75,469,791 (GRCm39) F169L probably benign Het
Gpnmb A T 6: 49,027,400 (GRCm39) I375L possibly damaging Het
Itpka A T 2: 119,580,994 (GRCm39) T381S probably benign Het
Lhx4 T C 1: 155,617,709 (GRCm39) probably benign Het
Lrguk T C 6: 34,106,129 (GRCm39) L718P probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nr1d1 T A 11: 98,660,537 (GRCm39) T477S probably benign Het
Nxnl1 A T 8: 72,019,170 (GRCm39) D18E probably damaging Het
Onecut2 G T 18: 64,474,658 (GRCm39) R403L probably damaging Het
Or51v14 T C 7: 103,260,900 (GRCm39) Y220C possibly damaging Het
Or5an1 T A 19: 12,260,705 (GRCm39) C98S probably damaging Het
Pla2r1 T C 2: 60,258,858 (GRCm39) T1177A possibly damaging Het
Ranbp1 T C 16: 18,063,161 (GRCm39) T72A probably damaging Het
Retnla A C 16: 48,663,977 (GRCm39) R90S probably benign Het
Sec31b A T 19: 44,514,669 (GRCm39) I385N probably damaging Het
Slc6a19 C T 13: 73,848,583 (GRCm39) R57H probably damaging Het
Smurf1 T C 5: 144,836,183 (GRCm39) D110G probably damaging Het
Specc1 A G 11: 62,110,187 (GRCm39) Y975C probably damaging Het
Tas2r136 T A 6: 132,754,599 (GRCm39) N176I possibly damaging Het
Tecrl A C 5: 83,427,188 (GRCm39) V320G probably benign Het
Tmem245 A G 4: 56,924,973 (GRCm39) probably null Het
Tpd52l1 T A 10: 31,214,178 (GRCm39) probably null Het
Trbv2 A G 6: 41,024,908 (GRCm39) Y108C probably damaging Het
Trpm7 T C 2: 126,639,418 (GRCm39) M1689V probably benign Het
Usp24 A G 4: 106,266,597 (GRCm39) Y1855C probably damaging Het
Usp9y A T Y: 1,384,354 (GRCm39) S721R possibly damaging Het
Vwf G A 6: 125,605,439 (GRCm39) probably null Het
Washc4 T A 10: 83,409,637 (GRCm39) probably null Het
Yeats4 G A 10: 117,056,464 (GRCm39) H71Y possibly damaging Het
Zbtb38 A C 9: 96,570,989 (GRCm39) L32V probably damaging Het
Zfy1 T C Y: 725,519 (GRCm39) T749A possibly damaging Het
Other mutations in Prkd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Prkd2 APN 7 16,599,787 (GRCm39) missense probably damaging 1.00
IGL01138:Prkd2 APN 7 16,582,736 (GRCm39) missense probably damaging 1.00
IGL01714:Prkd2 APN 7 16,597,867 (GRCm39) missense probably damaging 1.00
IGL01968:Prkd2 APN 7 16,603,501 (GRCm39) splice site probably null
IGL01969:Prkd2 APN 7 16,599,682 (GRCm39) missense probably damaging 1.00
IGL02354:Prkd2 APN 7 16,581,583 (GRCm39) missense probably damaging 1.00
IGL02361:Prkd2 APN 7 16,581,583 (GRCm39) missense probably damaging 1.00
IGL02504:Prkd2 APN 7 16,591,757 (GRCm39) missense probably damaging 1.00
IGL02804:Prkd2 APN 7 16,589,815 (GRCm39) missense probably benign 0.04
IGL02834:Prkd2 APN 7 16,579,859 (GRCm39) missense probably damaging 0.97
IGL02962:Prkd2 APN 7 16,603,757 (GRCm39) missense probably benign 0.01
IGL03053:Prkd2 APN 7 16,584,188 (GRCm39) missense possibly damaging 0.63
IGL03168:Prkd2 APN 7 16,584,188 (GRCm39) missense possibly damaging 0.63
alila UTSW 7 16,581,579 (GRCm39) missense probably damaging 1.00
Beaches UTSW 7 16,583,128 (GRCm39) nonsense probably null
Purnama UTSW 7 16,603,490 (GRCm39) missense probably damaging 1.00
Sandals UTSW 7 16,599,639 (GRCm39) missense probably damaging 1.00
R0024:Prkd2 UTSW 7 16,581,568 (GRCm39) missense probably damaging 1.00
R0173:Prkd2 UTSW 7 16,582,969 (GRCm39) missense probably benign
R0190:Prkd2 UTSW 7 16,603,815 (GRCm39) missense probably damaging 1.00
R0834:Prkd2 UTSW 7 16,599,602 (GRCm39) splice site probably benign
R1418:Prkd2 UTSW 7 16,603,470 (GRCm39) missense probably benign 0.03
R1488:Prkd2 UTSW 7 16,592,364 (GRCm39) missense probably damaging 1.00
R1648:Prkd2 UTSW 7 16,591,732 (GRCm39) missense possibly damaging 0.51
R2015:Prkd2 UTSW 7 16,581,602 (GRCm39) nonsense probably null
R2042:Prkd2 UTSW 7 16,590,193 (GRCm39) missense possibly damaging 0.86
R2101:Prkd2 UTSW 7 16,603,490 (GRCm39) missense probably damaging 1.00
R3884:Prkd2 UTSW 7 16,587,180 (GRCm39) missense probably benign 0.02
R4601:Prkd2 UTSW 7 16,577,573 (GRCm39) unclassified probably benign
R4979:Prkd2 UTSW 7 16,582,652 (GRCm39) missense probably damaging 1.00
R5240:Prkd2 UTSW 7 16,589,711 (GRCm39) missense probably benign 0.09
R5643:Prkd2 UTSW 7 16,577,717 (GRCm39) missense probably benign 0.02
R5994:Prkd2 UTSW 7 16,584,261 (GRCm39) missense probably benign 0.00
R6033:Prkd2 UTSW 7 16,599,639 (GRCm39) missense probably damaging 1.00
R6033:Prkd2 UTSW 7 16,599,639 (GRCm39) missense probably damaging 1.00
R6361:Prkd2 UTSW 7 16,581,579 (GRCm39) missense probably damaging 1.00
R6738:Prkd2 UTSW 7 16,599,830 (GRCm39) missense possibly damaging 0.64
R6798:Prkd2 UTSW 7 16,583,128 (GRCm39) nonsense probably null
R6815:Prkd2 UTSW 7 16,577,718 (GRCm39) missense probably benign 0.00
R7241:Prkd2 UTSW 7 16,591,730 (GRCm39) missense probably benign 0.44
R7293:Prkd2 UTSW 7 16,579,865 (GRCm39) missense possibly damaging 0.88
R7323:Prkd2 UTSW 7 16,581,547 (GRCm39) missense probably benign 0.07
R7943:Prkd2 UTSW 7 16,584,244 (GRCm39) missense probably benign 0.30
R8723:Prkd2 UTSW 7 16,591,702 (GRCm39) missense possibly damaging 0.90
R8729:Prkd2 UTSW 7 16,583,052 (GRCm39) missense probably damaging 1.00
R8923:Prkd2 UTSW 7 16,599,682 (GRCm39) missense probably damaging 1.00
R9111:Prkd2 UTSW 7 16,584,131 (GRCm39) missense probably benign 0.01
R9222:Prkd2 UTSW 7 16,577,699 (GRCm39) missense probably damaging 0.98
R9466:Prkd2 UTSW 7 16,589,696 (GRCm39) missense probably damaging 1.00
R9564:Prkd2 UTSW 7 16,591,744 (GRCm39) missense possibly damaging 0.92
X0062:Prkd2 UTSW 7 16,589,716 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CTCACGTGACTGCTCAAAGC -3'
(R):5'- TTAAATCTAGTCACACCCAACTGG -3'

Sequencing Primer
(F):5'- ACTGCTCAAAGCCGTCCCTG -3'
(R):5'- GGGCCACCCATAACTCTG -3'
Posted On 2019-12-20