Incidental Mutation 'R3783:Pdpk1'
ID |
272146 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdpk1
|
Ensembl Gene |
ENSMUSG00000024122 |
Gene Name |
3-phosphoinositide dependent protein kinase 1 |
Synonyms |
Pkb kinase, Pdk1 |
MMRRC Submission |
040875-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3783 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
24292654-24369898 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24329824 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 71
(T71A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000061942
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052462]
[ENSMUST00000102927]
[ENSMUST00000115407]
[ENSMUST00000115409]
[ENSMUST00000115411]
[ENSMUST00000128997]
[ENSMUST00000154982]
[ENSMUST00000144533]
|
AlphaFold |
Q9Z2A0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052462
AA Change: T71A
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000061942 Gene: ENSMUSG00000024122 AA Change: T71A
Domain | Start | End | E-Value | Type |
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: T98A
PolyPhen 2
Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000099991 Gene: ENSMUSG00000024122 AA Change: T98A
Domain | Start | End | E-Value | Type |
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: T98A
PolyPhen 2
Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000111066 Gene: ENSMUSG00000024122 AA Change: T98A
Domain | Start | End | E-Value | Type |
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: T98A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000111068 Gene: ENSMUSG00000024122 AA Change: T98A
Domain | Start | End | E-Value | Type |
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: T98A
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000111070 Gene: ENSMUSG00000024122 AA Change: T98A
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
17 |
N/A |
INTRINSIC |
low complexity region
|
38 |
50 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140906
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154982
AA Change: T71A
PolyPhen 2
Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000115618 Gene: ENSMUSG00000024122 AA Change: T71A
Domain | Start | End | E-Value | Type |
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 |
possibly damaging
Transcript: ENSMUST00000144533
AA Change: T71A
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000121771 Gene: ENSMUSG00000024122 AA Change: T71A
Domain | Start | End | E-Value | Type |
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
|
Meta Mutation Damage Score |
0.4750 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
98% (45/46) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Akap6 |
A |
G |
12: 52,927,552 (GRCm39) |
H154R |
probably damaging |
Het |
Aoc1 |
T |
C |
6: 48,882,589 (GRCm39) |
L177P |
probably damaging |
Het |
Ascc3 |
A |
G |
10: 50,604,350 (GRCm39) |
T1357A |
probably damaging |
Het |
Atp13a3 |
A |
T |
16: 30,173,067 (GRCm39) |
V270D |
probably damaging |
Het |
Carmil3 |
T |
C |
14: 55,734,433 (GRCm39) |
F418S |
probably damaging |
Het |
Ccdc93 |
A |
G |
1: 121,365,598 (GRCm39) |
N77S |
probably damaging |
Het |
Cpt1b |
T |
C |
15: 89,309,392 (GRCm39) |
K47R |
probably damaging |
Het |
Cyp4f14 |
A |
G |
17: 33,135,736 (GRCm39) |
Y42H |
probably benign |
Het |
Dmxl1 |
G |
A |
18: 49,998,189 (GRCm39) |
S763N |
probably damaging |
Het |
Fancd2 |
T |
G |
6: 113,542,165 (GRCm39) |
S770A |
probably damaging |
Het |
Firrm |
A |
T |
1: 163,815,252 (GRCm39) |
C90S |
probably benign |
Het |
Flnb |
T |
G |
14: 7,889,236 (GRCm38) |
W529G |
probably benign |
Het |
Fryl |
T |
C |
5: 73,258,819 (GRCm39) |
Y655C |
probably benign |
Het |
Gml |
C |
T |
15: 74,685,521 (GRCm39) |
V155M |
probably damaging |
Het |
Gpr174 |
A |
G |
X: 106,336,670 (GRCm39) |
T161A |
probably benign |
Het |
Heatr1 |
G |
T |
13: 12,449,341 (GRCm39) |
L1946F |
probably damaging |
Het |
Inpp5k |
T |
C |
11: 75,538,512 (GRCm39) |
L461P |
probably damaging |
Het |
Isy1 |
T |
C |
6: 87,798,527 (GRCm39) |
E209G |
possibly damaging |
Het |
Kdm5b |
A |
G |
1: 134,558,280 (GRCm39) |
H1429R |
probably benign |
Het |
Magi2 |
C |
T |
5: 20,670,907 (GRCm39) |
T580M |
probably damaging |
Het |
Map3k1 |
C |
T |
13: 111,892,754 (GRCm39) |
V834I |
probably benign |
Het |
Mdn1 |
A |
T |
4: 32,720,818 (GRCm39) |
E2310D |
probably benign |
Het |
Myo15a |
A |
T |
11: 60,368,398 (GRCm39) |
Y386F |
probably damaging |
Het |
Neurod1 |
T |
A |
2: 79,284,939 (GRCm39) |
N148I |
probably damaging |
Het |
Niban1 |
C |
T |
1: 151,565,399 (GRCm39) |
S243L |
possibly damaging |
Het |
Nsa2 |
G |
T |
13: 97,272,042 (GRCm39) |
Q60K |
possibly damaging |
Het |
Pcdha1 |
T |
A |
18: 37,063,855 (GRCm39) |
L173Q |
probably damaging |
Het |
Plxna2 |
T |
A |
1: 194,489,829 (GRCm39) |
V1692E |
probably damaging |
Het |
Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
Psg27 |
T |
A |
7: 18,294,279 (GRCm39) |
Q376L |
probably damaging |
Het |
Psmd4 |
T |
C |
3: 94,942,562 (GRCm39) |
D6G |
possibly damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rala |
T |
A |
13: 18,057,031 (GRCm39) |
E185V |
probably benign |
Het |
Sall4 |
A |
G |
2: 168,598,043 (GRCm39) |
S266P |
probably damaging |
Het |
Scn10a |
T |
C |
9: 119,520,628 (GRCm39) |
T91A |
probably damaging |
Het |
Synrg |
T |
C |
11: 83,892,746 (GRCm39) |
F613S |
probably damaging |
Het |
Tekt1 |
A |
G |
11: 72,235,720 (GRCm39) |
I376T |
probably damaging |
Het |
Tet2 |
T |
C |
3: 133,185,124 (GRCm39) |
K1182R |
possibly damaging |
Het |
Thbs4 |
T |
C |
13: 92,909,672 (GRCm39) |
N375S |
probably benign |
Het |
Thoc5 |
A |
G |
11: 4,870,372 (GRCm39) |
|
probably benign |
Het |
Tmprss9 |
G |
T |
10: 80,723,301 (GRCm39) |
V254F |
probably damaging |
Het |
Tro |
G |
A |
X: 149,438,048 (GRCm39) |
T203I |
possibly damaging |
Het |
Ttbk2 |
A |
T |
2: 120,604,296 (GRCm39) |
|
probably benign |
Het |
Usf2 |
A |
G |
7: 30,655,256 (GRCm39) |
V133A |
probably benign |
Het |
Wap |
G |
A |
11: 6,588,550 (GRCm39) |
Q25* |
probably null |
Het |
Xdh |
C |
T |
17: 74,200,590 (GRCm39) |
|
probably benign |
Het |
Xrn1 |
G |
T |
9: 95,851,338 (GRCm39) |
M153I |
probably benign |
Het |
|
Other mutations in Pdpk1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- CCACTGCTTTCTTCAGGTGG -3'
(R):5'- TCAATGGTGAGGTCCCAGACTG -3'
Sequencing Primer
(F):5'- GTGGCTAGGCTAAGTACACTCTC -3'
(R):5'- GTCCCCTGGCATTCCTAGTGG -3'
|
Posted On |
2015-03-25 |