Incidental Mutation 'R1208:Pdpk1'
ID 164839
Institutional Source Beutler Lab
Gene Symbol Pdpk1
Ensembl Gene ENSMUSG00000024122
Gene Name 3-phosphoinositide dependent protein kinase 1
Synonyms Pkb kinase, Pdk1
MMRRC Submission 039277-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1208 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 24292654-24369898 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) C to A at 24312583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000111070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052462] [ENSMUST00000102927] [ENSMUST00000115407] [ENSMUST00000115409] [ENSMUST00000115411]
AlphaFold Q9Z2A0
Predicted Effect probably null
Transcript: ENSMUST00000052462
SMART Domains Protein: ENSMUSP00000061942
Gene: ENSMUSG00000024122

DomainStartEndE-ValueType
low complexity region 8 17 N/A INTRINSIC
low complexity region 38 50 N/A INTRINSIC
S_TKc 58 318 4.07e-97 SMART
low complexity region 364 380 N/A INTRINSIC
Pfam:PH_3 422 524 1.6e-47 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000102927
SMART Domains Protein: ENSMUSP00000099991
Gene: ENSMUSG00000024122

DomainStartEndE-ValueType
low complexity region 16 27 N/A INTRINSIC
low complexity region 35 44 N/A INTRINSIC
low complexity region 65 77 N/A INTRINSIC
S_TKc 85 345 4.07e-97 SMART
low complexity region 391 407 N/A INTRINSIC
Pfam:PH_3 449 551 1.3e-46 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000115407
SMART Domains Protein: ENSMUSP00000111066
Gene: ENSMUSG00000024122

DomainStartEndE-ValueType
low complexity region 16 27 N/A INTRINSIC
low complexity region 35 44 N/A INTRINSIC
low complexity region 65 77 N/A INTRINSIC
S_TKc 85 345 4.07e-97 SMART
low complexity region 391 407 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000115409
SMART Domains Protein: ENSMUSP00000111068
Gene: ENSMUSG00000024122

DomainStartEndE-ValueType
low complexity region 16 27 N/A INTRINSIC
low complexity region 35 44 N/A INTRINSIC
low complexity region 65 77 N/A INTRINSIC
Pfam:Pkinase 110 217 3.6e-18 PFAM
low complexity region 264 280 N/A INTRINSIC
Pfam:PH_3 322 424 2.3e-48 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000115411
SMART Domains Protein: ENSMUSP00000111070
Gene: ENSMUSG00000024122

DomainStartEndE-ValueType
low complexity region 16 27 N/A INTRINSIC
low complexity region 35 44 N/A INTRINSIC
low complexity region 65 77 N/A INTRINSIC
S_TKc 85 345 4.07e-97 SMART
low complexity region 391 407 N/A INTRINSIC
Pfam:PH_3 449 522 4.9e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140906
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147199
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutant mice exhibit embryogenesis defects, impaired forebrain development, and die by mid gestation. Cardiac muscle-specific conditional mutants exhibit thin ventricular walls and die of heart failure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik C A 7: 29,260,708 (GRCm39) noncoding transcript Het
Aadacl2fm3 C T 3: 59,772,715 (GRCm39) P73L probably benign Het
Asb14 T C 14: 26,622,375 (GRCm39) probably benign Het
Atp13a3 A T 16: 30,173,065 (GRCm39) C271S probably benign Het
Ccl25 T A 8: 4,407,631 (GRCm39) S199T possibly damaging Het
Cdh15 G C 8: 123,584,234 (GRCm39) E112Q probably damaging Het
Cep104 A T 4: 154,069,836 (GRCm39) D270V probably damaging Het
Dnah5 T A 15: 28,327,877 (GRCm39) Y2084N probably damaging Het
Eftud2 A G 11: 102,755,592 (GRCm39) V214A probably benign Het
Epb41l4b C T 4: 57,077,252 (GRCm39) probably null Het
Gys2 A G 6: 142,396,193 (GRCm39) probably null Het
Lig4 T C 8: 10,021,062 (GRCm39) E906G probably damaging Het
Mast3 G A 8: 71,240,916 (GRCm39) probably null Het
Mta2 G A 19: 8,928,381 (GRCm39) R560H probably damaging Het
Myom2 T C 8: 15,134,631 (GRCm39) L478P probably damaging Het
Neb A T 2: 52,193,912 (GRCm39) L673* probably null Het
Niban3 A T 8: 72,053,119 (GRCm39) T125S probably damaging Het
Or4c35 G A 2: 89,808,836 (GRCm39) C238Y probably damaging Het
Pphln1 T C 15: 93,357,610 (GRCm39) W162R probably damaging Het
Ppp1r13b A G 12: 111,811,339 (GRCm39) V183A probably damaging Het
Recql5 T C 11: 115,783,982 (GRCm39) K951E probably damaging Het
Rev1 T C 1: 38,098,199 (GRCm39) probably benign Het
Slc25a25 T C 2: 32,307,437 (GRCm39) E309G probably benign Het
Slc25a36 T C 9: 96,967,188 (GRCm39) probably benign Het
Sycp2 A T 2: 177,998,421 (GRCm39) I1033N possibly damaging Het
Tbpl2 A T 2: 23,984,783 (GRCm39) N120K probably benign Het
Unc5b A T 10: 60,602,771 (GRCm39) L876Q probably damaging Het
Usp9y T C Y: 1,356,282 (GRCm39) T1140A probably benign Homo
Vmn1r40 A G 6: 89,691,326 (GRCm39) I48V probably benign Het
Zbbx T C 3: 74,945,299 (GRCm39) I708V possibly damaging Het
Zfp318 AGAAGA AGAAGAGGAAGA 17: 46,723,446 (GRCm39) probably benign Het
Other mutations in Pdpk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00767:Pdpk1 APN 17 24,325,835 (GRCm39) missense possibly damaging 0.87
IGL01467:Pdpk1 APN 17 24,307,144 (GRCm39) missense probably damaging 0.98
IGL02251:Pdpk1 APN 17 24,298,612 (GRCm39) missense probably damaging 1.00
IGL03411:Pdpk1 APN 17 24,320,618 (GRCm39) missense probably damaging 1.00
R0152:Pdpk1 UTSW 17 24,325,920 (GRCm39) missense possibly damaging 0.93
R0610:Pdpk1 UTSW 17 24,317,145 (GRCm39) critical splice acceptor site probably null
R1208:Pdpk1 UTSW 17 24,312,583 (GRCm39) critical splice acceptor site probably null
R1817:Pdpk1 UTSW 17 24,329,878 (GRCm39) missense probably damaging 1.00
R1819:Pdpk1 UTSW 17 24,329,878 (GRCm39) missense probably damaging 1.00
R1822:Pdpk1 UTSW 17 24,317,150 (GRCm39) splice site probably benign
R1823:Pdpk1 UTSW 17 24,317,150 (GRCm39) splice site probably benign
R3783:Pdpk1 UTSW 17 24,329,824 (GRCm39) missense possibly damaging 0.95
R4653:Pdpk1 UTSW 17 24,325,871 (GRCm39) missense probably benign 0.25
R5000:Pdpk1 UTSW 17 24,330,019 (GRCm39) missense possibly damaging 0.66
R5385:Pdpk1 UTSW 17 24,317,114 (GRCm39) nonsense probably null
R5425:Pdpk1 UTSW 17 24,317,095 (GRCm39) missense probably damaging 1.00
R5429:Pdpk1 UTSW 17 24,310,534 (GRCm39) missense probably benign 0.01
R5642:Pdpk1 UTSW 17 24,325,829 (GRCm39) nonsense probably null
R5936:Pdpk1 UTSW 17 24,312,203 (GRCm39) missense probably damaging 1.00
R6049:Pdpk1 UTSW 17 24,317,109 (GRCm39) nonsense probably null
R6332:Pdpk1 UTSW 17 24,325,896 (GRCm39) missense probably damaging 0.99
R6693:Pdpk1 UTSW 17 24,330,100 (GRCm39) splice site probably null
R7423:Pdpk1 UTSW 17 24,329,874 (GRCm39) missense probably benign 0.08
R7432:Pdpk1 UTSW 17 24,320,643 (GRCm39) missense probably benign 0.43
R8279:Pdpk1 UTSW 17 24,307,147 (GRCm39) missense probably benign
R8698:Pdpk1 UTSW 17 24,298,542 (GRCm39) missense probably damaging 1.00
R8827:Pdpk1 UTSW 17 24,307,191 (GRCm39) missense probably benign 0.02
R9255:Pdpk1 UTSW 17 24,325,938 (GRCm39) missense possibly damaging 0.83
RF016:Pdpk1 UTSW 17 24,312,255 (GRCm39) missense probably benign 0.01
Z1177:Pdpk1 UTSW 17 24,306,987 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACTTCTGCCCCAACTGGGTACAAC -3'
(R):5'- TGCGGTGACAAAGCTGTCTCTTC -3'

Sequencing Primer
(F):5'- AACTGGGTACAACCAGTAGC -3'
(R):5'- CACATGGGAAAGTTGTTACCCTG -3'
Posted On 2014-03-28