Incidental Mutation 'R6033:Prkd2'
ID 480504
Institutional Source Beutler Lab
Gene Symbol Prkd2
Ensembl Gene ENSMUSG00000041187
Gene Name protein kinase D2
Synonyms PKD2
MMRRC Submission 044205-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6033 (G1)
Quality Score 212.009
Status Not validated
Chromosome 7
Chromosomal Location 16576827-16604386 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 16599639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 701 (R701C)
Ref Sequence ENSEMBL: ENSMUSP00000131192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086104] [ENSMUST00000168093]
AlphaFold Q8BZ03
Predicted Effect probably damaging
Transcript: ENSMUST00000086104
AA Change: R701C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083273
Gene: ENSMUSG00000041187
AA Change: R701C

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 damaging
Transcript: ENSMUST00000168093
AA Change: R701C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131192
Gene: ENSMUSG00000041187
AA Change: R701C

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 noncoding transcript
Transcript: ENSMUST00000205798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206510
Meta Mutation Damage Score 0.9415 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 96.9%
  • 20x: 89.0%
Validation Efficiency
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 T A 8: 84,645,551 (GRCm39) V58E probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alas1 A G 9: 106,118,403 (GRCm39) S240P probably damaging Het
Alox12e C T 11: 70,206,839 (GRCm39) G616D probably benign Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Ccdc150 G T 1: 54,324,787 (GRCm39) probably null Het
Chct1 A G 11: 85,069,198 (GRCm39) E72G probably damaging Het
Cmtm8 T C 9: 114,625,141 (GRCm39) T97A probably damaging Het
Cnmd T C 14: 79,898,945 (GRCm39) S36G probably benign Het
Dnah3 A C 7: 119,670,870 (GRCm39) N609K probably benign Het
Dph1 C T 11: 75,082,023 (GRCm39) probably benign Het
Drosha G A 15: 12,926,085 (GRCm39) A1225T probably benign Het
Eid3 T A 10: 82,703,487 (GRCm39) I316K probably damaging Het
Erich6 A G 3: 58,530,622 (GRCm39) L449S probably benign Het
Fhod1 T C 8: 106,063,066 (GRCm39) probably benign Het
Glra1 A G 11: 55,418,245 (GRCm39) Y250H probably damaging Het
Hivep1 A G 13: 42,310,583 (GRCm39) E941G probably benign Het
Homer2 A C 7: 81,268,427 (GRCm39) S78A possibly damaging Het
Ica1 T A 6: 8,630,799 (GRCm39) probably null Het
Ifna12 T C 4: 88,521,154 (GRCm39) E131G possibly damaging Het
Igbp1b T C 6: 138,635,207 (GRCm39) Y79C probably damaging Het
Incenp C T 19: 9,850,061 (GRCm39) V871I probably damaging Het
Jaml G A 9: 45,000,008 (GRCm39) G60D probably damaging Het
Kcp C T 6: 29,493,193 (GRCm39) C110Y probably damaging Het
Manba T C 3: 135,255,022 (GRCm39) V460A probably benign Het
Myrfl A T 10: 116,685,006 (GRCm39) C125S probably benign Het
Ncan T C 8: 70,565,240 (GRCm39) D229G probably damaging Het
Ncoa4-ps A G 12: 119,225,475 (GRCm39) noncoding transcript Het
Nlrp10 A T 7: 108,523,784 (GRCm39) D565E probably benign Het
Npas2 T C 1: 39,377,261 (GRCm39) V541A probably damaging Het
Nsg2 G A 11: 32,005,058 (GRCm39) V87M possibly damaging Het
Or5al6 A T 2: 85,976,613 (GRCm39) V155E probably damaging Het
Prr5 A G 15: 84,626,126 (GRCm39) E67G probably damaging Het
Prss36 T C 7: 127,533,739 (GRCm39) R22G probably benign Het
Psmd1 T C 1: 86,064,817 (GRCm39) Y950H probably damaging Het
Slc45a4 G A 15: 73,453,825 (GRCm39) A716V probably damaging Het
Slc46a1 T C 11: 78,356,833 (GRCm39) probably null Het
Slc6a5 T C 7: 49,609,099 (GRCm39) I768T probably benign Het
Slco6c1 C T 1: 97,009,041 (GRCm39) probably null Het
Taar2 A T 10: 23,816,874 (GRCm39) H138L probably benign Het
Taf2 A C 15: 54,922,297 (GRCm39) L330R probably damaging Het
Tgm5 T C 2: 120,901,210 (GRCm39) probably null Het
Tmed4 A T 11: 6,224,491 (GRCm39) Y56* probably null Het
Tmem156 A T 5: 65,232,964 (GRCm39) F135L probably benign Het
Ttll6 T C 11: 96,025,713 (GRCm39) S65P probably damaging Het
Ttn C T 2: 76,557,171 (GRCm39) G28199R probably damaging Het
Ubn2 T A 6: 38,447,159 (GRCm39) probably null Het
Unc80 A T 1: 66,512,419 (GRCm39) T110S possibly damaging Het
Vmn2r72 A T 7: 85,387,137 (GRCm39) V809E probably damaging Het
Zbtb2 A G 10: 4,318,599 (GRCm39) F476L probably damaging Het
Zbtb24 T C 10: 41,340,397 (GRCm39) F498L probably damaging Het
Zfp280d T A 9: 72,236,419 (GRCm39) L494Q probably damaging Het
Zfp281 T C 1: 136,554,464 (GRCm39) S481P probably benign 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
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
R7900:Prkd2 UTSW 7 16,587,269 (GRCm39) missense probably benign 0.01
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
Posted On 2017-06-26