Incidental Mutation 'R1648:Prkd2'
ID 174019
Institutional Source Beutler Lab
Gene Symbol Prkd2
Ensembl Gene ENSMUSG00000041187
Gene Name protein kinase D2
Synonyms PKD2
MMRRC Submission 039684-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1648 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 16576827-16604386 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 16591732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 588 (F588I)
Ref Sequence ENSEMBL: ENSMUSP00000131192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086104] [ENSMUST00000168093]
AlphaFold Q8BZ03
Predicted Effect possibly damaging
Transcript: ENSMUST00000086104
AA Change: F588I

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000083273
Gene: ENSMUSG00000041187
AA Change: F588I

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 possibly damaging
Transcript: ENSMUST00000168093
AA Change: F588I

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000131192
Gene: ENSMUSG00000041187
AA Change: F588I

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: ENSMUST00000205456
Meta Mutation Damage Score 0.6751 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 95% (73/77)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,775,181 (GRCm39) N1457D probably benign Het
Adgb A G 10: 10,271,115 (GRCm39) F817L probably damaging Het
Akap6 A T 12: 53,188,789 (GRCm39) K2068* probably null Het
Alms1 T C 6: 85,655,384 (GRCm39) L3310P probably damaging Het
Ankrd27 T A 7: 35,303,278 (GRCm39) D219E probably benign Het
Atp10a T C 7: 58,434,575 (GRCm39) V283A probably damaging Het
Atp11a C T 8: 12,897,495 (GRCm39) S270L probably damaging Het
Casp3 T C 8: 47,091,109 (GRCm39) S254P probably benign Het
Cep104 G A 4: 154,063,553 (GRCm39) probably null Het
Cep170b C T 12: 112,702,806 (GRCm39) T423I probably damaging Het
Cfap58 A G 19: 47,943,844 (GRCm39) E348G probably benign Het
Chd6 A G 2: 160,883,978 (GRCm39) L89S probably damaging Het
Cyp2a22 T C 7: 26,631,793 (GRCm39) S488G probably damaging Het
D130040H23Rik C A 8: 69,755,633 (GRCm39) H363Q probably benign Het
Dcaf7 T A 11: 105,942,628 (GRCm39) F192I probably damaging Het
Ddx20 T C 3: 105,586,504 (GRCm39) I614V probably benign Het
Ehbp1 G A 11: 22,046,000 (GRCm39) T558I probably damaging Het
Eif2ak3 T A 6: 70,860,615 (GRCm39) V397D possibly damaging Het
Eif2b5 T C 16: 20,321,335 (GRCm39) V296A possibly damaging Het
Esr1 A G 10: 4,951,260 (GRCm39) E546G possibly damaging Het
Fras1 T A 5: 96,874,472 (GRCm39) probably null Het
G930045G22Rik T C 6: 50,823,698 (GRCm39) noncoding transcript Het
Gemin5 A T 11: 58,038,805 (GRCm39) L568* probably null Het
Gm22697+Rbm27 AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC AGGTCCCGGCCCAGGCCC 18: 42,434,948 (GRCm39) probably benign Het
Gpr155 T C 2: 73,194,508 (GRCm39) probably null Het
Has1 A G 17: 18,070,247 (GRCm39) Y225H probably damaging Het
Hk3 A G 13: 55,162,274 (GRCm39) F110S probably damaging Het
Iars1 A G 13: 49,876,478 (GRCm39) K848E possibly damaging Het
Kif17 A G 4: 137,997,206 (GRCm39) Y43C probably damaging Het
Kif20b A T 19: 34,914,190 (GRCm39) T355S possibly damaging Het
Kif21a T C 15: 90,878,570 (GRCm39) T237A probably damaging Het
Klc1 T C 12: 111,743,321 (GRCm39) L216P probably damaging Het
Krt7 A C 15: 101,310,448 (GRCm39) S32R probably damaging Het
Lama3 A G 18: 12,665,256 (GRCm39) D2330G possibly damaging Het
Limch1 T A 5: 67,156,599 (GRCm39) S511R probably damaging Het
Luzp2 T A 7: 54,914,018 (GRCm39) probably null Het
Macc1 T C 12: 119,410,156 (GRCm39) M308T probably benign Het
Mroh9 T G 1: 162,873,625 (GRCm39) E510A probably damaging Het
Myo1h G T 5: 114,474,336 (GRCm39) L458F probably damaging Het
Neto1 A T 18: 86,518,179 (GRCm39) Y528F probably damaging Het
Nlrp9b T A 7: 19,760,469 (GRCm39) C187S possibly damaging Het
Nup160 T C 2: 90,540,432 (GRCm39) Y854H probably damaging Het
Odc1 T C 12: 17,598,538 (GRCm39) probably benign Het
Or10a3n A G 7: 108,492,972 (GRCm39) I214T probably damaging Het
Or51a10 A G 7: 103,699,376 (GRCm39) Y62H probably damaging Het
Or5an10 T A 19: 12,276,023 (GRCm39) I158L probably benign Het
Plcb2 A T 2: 118,554,261 (GRCm39) M64K possibly damaging Het
Plcxd3 A T 15: 4,405,291 (GRCm39) I33F probably benign Het
Postn A G 3: 54,283,522 (GRCm39) T534A probably damaging Het
Prrg4 C A 2: 104,663,088 (GRCm39) A173S probably benign Het
Rinl C T 7: 28,497,057 (GRCm39) A519V probably damaging Het
Rpgrip1l A C 8: 91,979,517 (GRCm39) V975G probably damaging Het
Rps6ka4 C A 19: 6,816,730 (GRCm39) V118L probably benign Het
Rtkn T C 6: 83,112,975 (GRCm39) S16P probably damaging Het
Sbspon C A 1: 15,953,983 (GRCm39) R99L probably damaging Het
Sdf4 G A 4: 156,083,886 (GRCm39) A119T probably damaging Het
Sgpp1 T A 12: 75,762,990 (GRCm39) H397L possibly damaging Het
Shc2 T A 10: 79,461,945 (GRCm39) M367L probably benign Het
Slc26a5 T A 5: 22,018,974 (GRCm39) K590* probably null Het
Slc39a12 T C 2: 14,456,803 (GRCm39) V597A probably benign Het
Smcp A T 3: 92,491,788 (GRCm39) C20S unknown Het
Tdrd6 A C 17: 43,938,000 (GRCm39) V1016G possibly damaging Het
Tmem132c T A 5: 127,540,120 (GRCm39) probably benign Het
Tmem170b A T 13: 41,759,738 (GRCm39) Q16L probably null Het
Tmem30a A G 9: 79,700,311 (GRCm39) F61S probably damaging Het
Tnfsf13b T C 8: 10,081,534 (GRCm39) M232T probably damaging Het
Trip11 T A 12: 101,850,651 (GRCm39) K853* probably null Het
Tusc3 C A 8: 39,513,721 (GRCm39) S64* probably null Het
Vmn2r111 A T 17: 22,788,042 (GRCm39) D436E probably benign Het
Zfp607a T C 7: 27,578,493 (GRCm39) V521A probably benign Het
Zfp704 A T 3: 9,536,099 (GRCm39) S140R probably 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
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
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 PCR Primer
(F):5'- CCTATCCCACCCCTCATGTTGAGAA -3'
(R):5'- AAGCCCACTGACTGTCTTGCCA -3'

Sequencing Primer
(F):5'- GTTGAGAACTCTTCAGAGAAACC -3'
(R):5'- TGTCACCTGCACAGACTG -3'
Posted On 2014-04-24