Incidental Mutation 'R9255:Pdpk1'
ID 701839
Institutional Source Beutler Lab
Gene Symbol Pdpk1
Ensembl Gene ENSMUSG00000024122
Gene Name 3-phosphoinositide dependent protein kinase 1
Synonyms Pkb kinase, Pdk1
MMRRC Submission 068961-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9255 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 24292654-24369898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24325938 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 113 (I113T)
Ref Sequence ENSEMBL: ENSMUSP00000099991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052462] [ENSMUST00000102927] [ENSMUST00000115407] [ENSMUST00000115409] [ENSMUST00000115411] [ENSMUST00000128997] [ENSMUST00000144533] [ENSMUST00000154982]
AlphaFold Q9Z2A0
Predicted Effect possibly damaging
Transcript: ENSMUST00000052462
AA Change: I86T

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000061942
Gene: ENSMUSG00000024122
AA Change: I86T

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 possibly damaging
Transcript: ENSMUST00000102927
AA Change: I113T

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099991
Gene: ENSMUSG00000024122
AA Change: I113T

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 possibly damaging
Transcript: ENSMUST00000115407
AA Change: I113T

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000111066
Gene: ENSMUSG00000024122
AA Change: I113T

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 possibly damaging
Transcript: ENSMUST00000115411
AA Change: I113T

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000111070
Gene: ENSMUSG00000024122
AA Change: I113T

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 possibly damaging
Transcript: ENSMUST00000144533
AA Change: I86T

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121771
Gene: ENSMUSG00000024122
AA Change: I86T

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 possibly damaging
Transcript: ENSMUST00000154982
AA Change: I86T

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115618
Gene: ENSMUSG00000024122
AA Change: I86T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,626,795 (GRCm39) Y549C probably damaging Het
Abca13 A C 11: 9,278,213 (GRCm39) N3131T probably damaging Het
Acap3 T C 4: 155,990,145 (GRCm39) V775A probably benign Het
Actn3 T A 19: 4,921,820 (GRCm39) I149F probably damaging Het
Adcy2 A T 13: 69,036,199 (GRCm39) M154K possibly damaging Het
Agbl1 A T 7: 76,416,150 (GRCm39) M976L unknown Het
Agbl3 T A 6: 34,789,840 (GRCm39) M531K probably damaging Het
Armc8 A C 9: 99,379,441 (GRCm39) M495R possibly damaging Het
Astn2 T A 4: 65,563,085 (GRCm39) K899* probably null Het
Atp10b T A 11: 43,107,148 (GRCm39) H727Q probably damaging Het
Bach1 A G 16: 87,519,401 (GRCm39) I564V possibly damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Ccdc136 T A 6: 29,409,237 (GRCm39) H183Q probably benign Het
Celf3 T C 3: 94,392,594 (GRCm39) F98L probably benign Het
Chrd G A 16: 20,558,801 (GRCm39) C845Y probably damaging Het
Clec1a T G 6: 129,409,208 (GRCm39) K139N probably benign Het
Cntln T G 4: 85,019,103 (GRCm39) N130K possibly damaging Het
Cog1 A T 11: 113,547,019 (GRCm39) T538S probably benign Het
Cog8 A G 8: 107,779,383 (GRCm39) I298T probably damaging Het
Dio1 A T 4: 107,164,102 (GRCm39) W72R probably damaging Het
Elapor1 T C 3: 108,376,864 (GRCm39) R453G probably damaging Het
Exph5 T A 9: 53,284,609 (GRCm39) N563K possibly damaging Het
Foxn1 C A 11: 78,252,399 (GRCm39) E330* probably null Het
Fzd7 G T 1: 59,522,495 (GRCm39) R126L possibly damaging Het
Gmnn A G 13: 24,937,351 (GRCm39) Y147H probably benign Het
Gpa33 A G 1: 165,980,186 (GRCm39) N83S probably benign Het
Hdac4 A G 1: 91,889,173 (GRCm39) probably null Het
Hydin A G 8: 111,261,972 (GRCm39) D2691G probably benign Het
Ifi203 A T 1: 173,756,787 (GRCm39) I332N unknown Het
Inpp1 A G 1: 52,829,306 (GRCm39) S238P probably benign Het
Jmy A G 13: 93,589,894 (GRCm39) probably null Het
Kcnab3 C T 11: 69,222,337 (GRCm39) Q327* probably null Het
Kctd1 A G 18: 15,194,853 (GRCm39) V590A probably benign Het
Lrrc8e A T 8: 4,284,504 (GRCm39) H243L probably damaging Het
Lsr A G 7: 30,657,670 (GRCm39) L498S probably benign Het
Mapkbp1 A G 2: 119,843,556 (GRCm39) D268G probably damaging Het
Mfn1 T C 3: 32,598,287 (GRCm39) V203A possibly damaging Het
Micu1 T A 10: 59,604,051 (GRCm39) I212N probably damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Or11i1 A G 3: 106,729,737 (GRCm39) I46T probably benign Het
Or12j4 T C 7: 140,046,423 (GRCm39) F103S probably damaging Het
Or8g30 T C 9: 39,230,487 (GRCm39) Y141C probably benign Het
Pabpc6 T C 17: 9,886,769 (GRCm39) E594G probably damaging Het
Pald1 A T 10: 61,176,989 (GRCm39) probably null Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pi4kb T C 3: 94,906,219 (GRCm39) S589P probably damaging Het
Pik3ca G A 3: 32,496,981 (GRCm39) probably null Het
Plekhg4 A T 8: 106,103,271 (GRCm39) M315L probably benign Het
Proz G A 8: 13,123,472 (GRCm39) V248M possibly damaging Het
Prss1 T C 6: 41,438,183 (GRCm39) Y37H probably damaging Het
R3hdml T A 2: 163,337,612 (GRCm39) W89R probably damaging Het
Ranbp3l A G 15: 9,057,293 (GRCm39) T319A probably benign Het
Scn4a C T 11: 106,215,054 (GRCm39) A1246T probably damaging Het
Sdr42e1 T A 8: 118,389,999 (GRCm39) Y214F probably benign Het
Slc10a2 C T 8: 5,148,565 (GRCm39) V127I probably benign Het
Slc16a1 T A 3: 104,560,148 (GRCm39) M151K possibly damaging Het
Slc25a25 C T 2: 32,310,391 (GRCm39) E123K probably damaging Het
Ssbp2 T A 13: 91,818,525 (GRCm39) M171K possibly damaging Het
Styk1 A G 6: 131,286,946 (GRCm39) V183A probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tspan18 T G 2: 93,040,200 (GRCm39) D185A probably benign Het
Tti2 T A 8: 31,645,570 (GRCm39) F320Y probably damaging Het
Ttn T C 2: 76,608,621 (GRCm39) I17798M probably damaging Het
Ube2j1 C A 4: 33,036,759 (GRCm39) H28N probably benign Het
Vmn1r195 A C 13: 22,463,342 (GRCm39) I271L possibly damaging Het
Vmn2r81 A C 10: 79,103,166 (GRCm39) T120P possibly damaging Het
Vmn2r-ps158 A T 7: 42,673,965 (GRCm39) Y348F possibly damaging Het
Wtip A G 7: 33,824,908 (GRCm39) probably null Het
Zc3h12d C T 10: 7,729,022 (GRCm39) H129Y probably damaging Het
Zfp600 T G 4: 146,131,673 (GRCm39) S114A 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
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
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'- CAGACCATGGTTTGCATTGAC -3'
(R):5'- CCAGTGAGCTGTATGTCTGG -3'

Sequencing Primer
(F):5'- CCATGCAAAGGATACACAGCTTTTC -3'
(R):5'- TATATAAGGCAATCTGGGTAGTCGC -3'
Posted On 2022-03-25