Incidental Mutation 'R4653:Pdpk1'
ID 351500
Institutional Source Beutler Lab
Gene Symbol Pdpk1
Ensembl Gene ENSMUSG00000024122
Gene Name 3-phosphoinositide dependent protein kinase 1
Synonyms Pkb kinase, Pdk1
MMRRC Submission 041913-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4653 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 24292654-24369898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24325871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 108 (D108E)
Ref Sequence ENSEMBL: ENSMUSP00000121771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052462] [ENSMUST00000102927] [ENSMUST00000115407] [ENSMUST00000115409] [ENSMUST00000115411] [ENSMUST00000128997] [ENSMUST00000154982] [ENSMUST00000144533]
AlphaFold Q9Z2A0
Predicted Effect probably benign
Transcript: ENSMUST00000052462
AA Change: D108E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000061942
Gene: ENSMUSG00000024122
AA Change: D108E

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 benign
Transcript: ENSMUST00000102927
AA Change: D135E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099991
Gene: ENSMUSG00000024122
AA Change: D135E

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 benign
Transcript: ENSMUST00000115407
AA Change: D135E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111066
Gene: ENSMUSG00000024122
AA Change: D135E

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 benign
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 benign
Transcript: ENSMUST00000115411
AA Change: D135E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111070
Gene: ENSMUSG00000024122
AA Change: D135E

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 probably benign
Transcript: ENSMUST00000128997
SMART Domains Protein: ENSMUSP00000120548
Gene: ENSMUSG00000024122

DomainStartEndE-ValueType
low complexity region 8 17 N/A INTRINSIC
low complexity region 38 50 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154982
AA Change: D108E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115618
Gene: ENSMUSG00000024122
AA Change: D108E

DomainStartEndE-ValueType
low complexity region 8 17 N/A INTRINSIC
low complexity region 38 50 N/A INTRINSIC
Pfam:Pkinase 58 111 6e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144533
AA Change: D108E

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000121771
Gene: ENSMUSG00000024122
AA Change: D108E

DomainStartEndE-ValueType
low complexity region 8 17 N/A INTRINSIC
low complexity region 38 50 N/A INTRINSIC
Pfam:Pkinase 58 128 2.8e-12 PFAM
Pfam:Pkinase_Tyr 58 128 9.2e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150578
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140906
Meta Mutation Damage Score 0.0597 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (66/68)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,264 (GRCm39) T351A probably benign Het
3930402G23Rik A T 8: 10,976,075 (GRCm39) noncoding transcript Het
4933409G03Rik G A 2: 68,436,559 (GRCm39) E168K unknown Het
Abca4 G T 3: 121,932,230 (GRCm39) E295* probably null Het
Abi3 T C 11: 95,723,637 (GRCm39) I215V probably benign Het
Adhfe1 G T 1: 9,620,803 (GRCm39) probably benign Het
Akr1a1 A G 4: 116,495,156 (GRCm39) probably benign Het
Ank T A 15: 27,590,447 (GRCm39) W344R probably null Het
Cast A G 13: 74,894,133 (GRCm39) S171P probably benign Het
Ccdc39 A G 3: 33,873,955 (GRCm39) probably null Het
Cd180 T A 13: 102,841,416 (GRCm39) L154H probably damaging Het
Cnp A T 11: 100,467,342 (GRCm39) D95V probably benign Het
Cul1 T C 6: 47,461,897 (GRCm39) I20T probably damaging Het
Dnah6 T C 6: 73,050,440 (GRCm39) K3042R possibly damaging Het
Dpy19l1 A C 9: 24,393,350 (GRCm39) S140A possibly damaging Het
Dpys C A 15: 39,656,642 (GRCm39) R475L probably damaging Het
Dync1i2 A G 2: 71,078,199 (GRCm39) N276S probably damaging Het
Ext2 T C 2: 93,526,504 (GRCm39) S711G probably benign Het
Fancm A G 12: 65,129,828 (GRCm39) Y223C probably damaging Het
Folh1 C A 7: 86,393,633 (GRCm39) G360* probably null Het
Garin5b T C 7: 4,761,054 (GRCm39) R553G possibly damaging Het
Gcat T C 15: 78,919,487 (GRCm39) S151P probably damaging Het
Gcm2 A T 13: 41,256,317 (GRCm39) D477E probably benign Het
Git1 A G 11: 77,395,869 (GRCm39) N468S possibly damaging Het
Gtf3c1 T C 7: 125,273,272 (GRCm39) I622V probably benign Het
Hsd17b13 G A 5: 104,113,702 (GRCm39) L251F probably damaging Het
Lamc1 T G 1: 153,104,523 (GRCm39) S59R probably damaging Het
Llgl1 A G 11: 60,599,477 (GRCm39) D486G possibly damaging Het
Lrrk1 T C 7: 65,922,801 (GRCm39) I1366V probably benign Het
Ly9 G T 1: 171,421,597 (GRCm39) H441Q probably benign Het
Mtcl2 A G 2: 156,882,511 (GRCm39) F514L probably damaging Het
Myo15b G A 11: 115,770,813 (GRCm39) probably null Het
Nomo1 G T 7: 45,711,237 (GRCm39) A639S probably benign Het
P3h2 T C 16: 25,924,027 (GRCm39) D136G probably damaging Het
Pde4dip A T 3: 97,674,654 (GRCm39) D87E probably damaging Het
Pex26 C T 6: 121,167,084 (GRCm39) S231L probably damaging Het
Prpf38b G A 3: 108,811,408 (GRCm39) probably benign Het
Prpf4b A T 13: 35,083,954 (GRCm39) M908L probably benign Het
Prps2 T C X: 166,135,288 (GRCm39) D183G probably damaging Het
R3hdm1 T C 1: 128,112,181 (GRCm39) S422P probably damaging Het
Rhox2a G C X: 36,508,962 (GRCm39) R43P probably benign Het
Rps6-ps2 A G 8: 89,533,319 (GRCm39) noncoding transcript Het
Ryr3 T A 2: 112,483,108 (GRCm39) N4213I probably damaging Het
Slc7a14 A G 3: 31,311,831 (GRCm39) V63A probably damaging Het
Sppl2a C T 2: 126,762,233 (GRCm39) probably null Het
Sspo T A 6: 48,455,580 (GRCm39) W3077R probably damaging Het
Stag1 T A 9: 100,678,769 (GRCm39) M230K probably damaging Het
Sv2a T C 3: 96,098,078 (GRCm39) probably null Het
Themis2 A G 4: 132,510,287 (GRCm39) S638P probably benign Het
Trabd A G 15: 88,970,042 (GRCm39) Y346C probably damaging Het
Trim38 A T 13: 23,966,952 (GRCm39) D133V probably damaging Het
Trmt1l G A 1: 151,315,320 (GRCm39) V16I probably benign Het
Ube2b A G 11: 51,886,199 (GRCm39) probably null Het
Usp13 A T 3: 32,892,073 (GRCm39) Q84L probably damaging Het
Vmn1r172 G T 7: 23,359,997 (GRCm39) G294V probably damaging Het
Vmn2r59 A T 7: 41,693,228 (GRCm39) H457Q probably benign Het
Vmn2r63 A G 7: 42,553,114 (GRCm39) I714T possibly damaging Het
Vps8 T C 16: 21,318,960 (GRCm39) Y602H probably damaging Het
Zbp1 G A 2: 173,049,608 (GRCm39) P385S possibly damaging 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
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
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'- GCCTCCAAGGAGATCAGTACAC -3'
(R):5'- TCAAACCTTCTAACCGTGGGTG -3'

Sequencing Primer
(F):5'- CAGAGATCTGTGCTGTGCC -3'
(R):5'- CTTCTAACCGTGGGTGGGTGG -3'
Posted On 2015-10-08