Incidental Mutation 'R5429:Pdpk1'
ID 427097
Institutional Source Beutler Lab
Gene Symbol Pdpk1
Ensembl Gene ENSMUSG00000024122
Gene Name 3-phosphoinositide dependent protein kinase 1
Synonyms Pkb kinase, Pdk1
MMRRC Submission 042995-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5429 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 24073680-24150924 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24091560 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 205 (E205G)
Ref Sequence ENSEMBL: ENSMUSP00000111068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052462] [ENSMUST00000102927] [ENSMUST00000115407] [ENSMUST00000115409] [ENSMUST00000115411]
AlphaFold Q9Z2A0
Predicted Effect probably benign
Transcript: ENSMUST00000052462
AA Change: E305G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000061942
Gene: ENSMUSG00000024122
AA Change: E305G

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: E332G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000099991
Gene: ENSMUSG00000024122
AA Change: E332G

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: E332G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000111066
Gene: ENSMUSG00000024122
AA Change: E332G

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
AA Change: E205G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000111068
Gene: ENSMUSG00000024122
AA Change: E205G

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: E332G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000111070
Gene: ENSMUSG00000024122
AA Change: E332G

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410141K09Rik G A 13: 66,431,828 (GRCm38) P199S probably benign Het
Akap13 T G 7: 75,602,904 (GRCm38) S261A possibly damaging Het
Ankrd34a G A 3: 96,597,521 (GRCm38) G14R probably damaging Het
Auts2 G A 5: 131,472,335 (GRCm38) T289M probably damaging Het
Btaf1 G A 19: 36,994,857 (GRCm38) V1331I possibly damaging Het
Ciz1 T A 2: 32,376,043 (GRCm38) I609K possibly damaging Het
Clca3b C T 3: 144,846,459 (GRCm38) V154I probably damaging Het
Csde1 A G 3: 103,052,841 (GRCm38) T564A possibly damaging Het
Csrnp2 A G 15: 100,482,054 (GRCm38) V452A probably benign Het
Ctnnd1 C T 2: 84,616,789 (GRCm38) V371M probably damaging Het
Dock6 T C 9: 21,832,881 (GRCm38) D677G probably damaging Het
Filip1l A T 16: 57,570,255 (GRCm38) E402V probably damaging Het
Gad1-ps G A 10: 99,445,147 (GRCm38) noncoding transcript Het
Ghr G A 15: 3,388,675 (GRCm38) Q37* probably null Het
Gm10770 C T 2: 150,179,423 (GRCm38) R58H probably benign Het
Gm12789 T C 4: 101,989,961 (GRCm38) Y148H possibly damaging Het
Herc4 T A 10: 63,275,013 (GRCm38) N234K probably benign Het
Itih3 A G 14: 30,923,521 (GRCm38) V10A probably benign Het
Kat14 T A 2: 144,393,323 (GRCm38) D234E probably benign Het
Kif13a A G 13: 46,772,769 (GRCm38) probably null Het
Kif2b A G 11: 91,577,229 (GRCm38) V76A probably benign Het
Mboat1 A G 13: 30,219,667 (GRCm38) T150A probably benign Het
Mfsd1 T A 3: 67,599,960 (GRCm38) L398H probably damaging Het
Myt1l G A 12: 29,832,332 (GRCm38) G509R unknown Het
Nfx1 T C 4: 41,004,343 (GRCm38) C705R probably damaging Het
Olfr318 T A 11: 58,720,524 (GRCm38) N175Y probably damaging Het
Olfr60 A G 7: 140,345,273 (GRCm38) F239L possibly damaging Het
Pcdh10 T C 3: 45,384,200 (GRCm38) S931P probably benign Het
Ppp2r2a A T 14: 67,023,756 (GRCm38) F172I probably damaging Het
Ppp2r5e T A 12: 75,453,763 (GRCm38) D452V probably damaging Het
Rims2 A T 15: 39,345,355 (GRCm38) T185S probably damaging Het
Rpusd4 T C 9: 35,272,602 (GRCm38) V209A probably benign Het
Safb T C 17: 56,588,822 (GRCm38) V20A probably benign Het
Scaf8 C A 17: 3,197,110 (GRCm38) P903T probably benign Het
Slc30a7 A G 3: 116,006,925 (GRCm38) S31P possibly damaging Het
Slc9b1 T C 3: 135,373,263 (GRCm38) probably null Het
Sntb1 C G 15: 55,642,795 (GRCm38) G461R probably damaging Het
Tbc1d32 T C 10: 56,027,993 (GRCm38) D1226G probably damaging Het
Tlnrd1 G T 7: 83,882,314 (GRCm38) T303N probably damaging Het
Tmc1 G T 19: 20,789,622 (GRCm38) N738K possibly damaging Het
Tmem41a A G 16: 21,934,856 (GRCm38) I255T probably benign Het
Trim7 G A 11: 48,849,955 (GRCm38) C293Y probably damaging Het
Trpc6 C T 9: 8,634,074 (GRCm38) Q385* probably null Het
Ttc39b A G 4: 83,243,953 (GRCm38) I330T possibly damaging Het
Vil1 C T 1: 74,432,331 (GRCm38) T757I probably benign Het
Zfp462 T C 4: 55,060,077 (GRCm38) V1201A probably damaging Het
Zfp473 T A 7: 44,732,848 (GRCm38) E686V possibly damaging Het
Other mutations in Pdpk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00767:Pdpk1 APN 17 24,106,861 (GRCm38) missense possibly damaging 0.87
IGL01467:Pdpk1 APN 17 24,088,170 (GRCm38) missense probably damaging 0.98
IGL02251:Pdpk1 APN 17 24,079,638 (GRCm38) missense probably damaging 1.00
IGL03411:Pdpk1 APN 17 24,101,644 (GRCm38) missense probably damaging 1.00
R0152:Pdpk1 UTSW 17 24,106,946 (GRCm38) missense possibly damaging 0.93
R0610:Pdpk1 UTSW 17 24,098,171 (GRCm38) critical splice acceptor site probably null
R1208:Pdpk1 UTSW 17 24,093,609 (GRCm38) critical splice acceptor site probably null
R1208:Pdpk1 UTSW 17 24,093,609 (GRCm38) critical splice acceptor site probably null
R1817:Pdpk1 UTSW 17 24,110,904 (GRCm38) missense probably damaging 1.00
R1819:Pdpk1 UTSW 17 24,110,904 (GRCm38) missense probably damaging 1.00
R1822:Pdpk1 UTSW 17 24,098,176 (GRCm38) splice site probably benign
R1823:Pdpk1 UTSW 17 24,098,176 (GRCm38) splice site probably benign
R3783:Pdpk1 UTSW 17 24,110,850 (GRCm38) missense possibly damaging 0.95
R4653:Pdpk1 UTSW 17 24,106,897 (GRCm38) missense probably benign 0.25
R5000:Pdpk1 UTSW 17 24,111,045 (GRCm38) missense possibly damaging 0.66
R5385:Pdpk1 UTSW 17 24,098,140 (GRCm38) nonsense probably null
R5425:Pdpk1 UTSW 17 24,098,121 (GRCm38) missense probably damaging 1.00
R5642:Pdpk1 UTSW 17 24,106,855 (GRCm38) nonsense probably null
R5936:Pdpk1 UTSW 17 24,093,229 (GRCm38) missense probably damaging 1.00
R6049:Pdpk1 UTSW 17 24,098,135 (GRCm38) nonsense probably null
R6332:Pdpk1 UTSW 17 24,106,922 (GRCm38) missense probably damaging 0.99
R6693:Pdpk1 UTSW 17 24,111,126 (GRCm38) splice site probably null
R7423:Pdpk1 UTSW 17 24,110,900 (GRCm38) missense probably benign 0.08
R7432:Pdpk1 UTSW 17 24,101,669 (GRCm38) missense probably benign 0.43
R8279:Pdpk1 UTSW 17 24,088,173 (GRCm38) missense probably benign
R8698:Pdpk1 UTSW 17 24,079,568 (GRCm38) missense probably damaging 1.00
R8827:Pdpk1 UTSW 17 24,088,217 (GRCm38) missense probably benign 0.02
R9255:Pdpk1 UTSW 17 24,106,964 (GRCm38) missense possibly damaging 0.83
RF016:Pdpk1 UTSW 17 24,093,281 (GRCm38) missense probably benign 0.01
Z1177:Pdpk1 UTSW 17 24,088,013 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGCAGAATTTCTTTTGCCTGGG -3'
(R):5'- TGGTCTGAGGCAAGAGTCCTAG -3'

Sequencing Primer
(F):5'- AGAATTTCTTTTGCCTGGGCTACAC -3'
(R):5'- GTCTGAGGCAAGAGTCCTAGTTAATC -3'
Posted On 2016-09-01