Incidental Mutation 'R8279:Pdpk1'
| ID |
638127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdpk1
|
| Ensembl Gene |
ENSMUSG00000024122 |
| Gene Name |
3-phosphoinositide dependent protein kinase 1 |
| Synonyms |
Pkb kinase, Pdk1 |
| MMRRC Submission |
067702-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8279 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
24292654-24369898 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24307147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 395
(S395P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052462]
[ENSMUST00000102927]
[ENSMUST00000115407]
[ENSMUST00000115409]
[ENSMUST00000115411]
|
| AlphaFold |
Q9Z2A0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052462
AA Change: S368P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000061942
Gene: ENSMUSG00000024122
AA Change: S368P
| 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 |
probably benign
Transcript: ENSMUST00000102927
AA Change: S395P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099991
Gene: ENSMUSG00000024122
AA Change: S395P
| 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 |
probably benign
Transcript: ENSMUST00000115407
AA Change: S395P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000111066
Gene: ENSMUSG00000024122
AA Change: S395P
| 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: S268P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111068
Gene: ENSMUSG00000024122
AA Change: S268P
| 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: S395P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111070
Gene: ENSMUSG00000024122
AA Change: S395P
| 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 |
|
| Meta Mutation Damage Score |
0.0634 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (33/33) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,069,549 (GRCm39) |
N1282S |
probably benign |
Het |
| Als2cl |
A |
G |
9: 110,723,653 (GRCm39) |
H683R |
probably damaging |
Het |
| Ank2 |
C |
T |
3: 126,726,820 (GRCm39) |
D825N |
probably benign |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| Axl |
C |
T |
7: 25,463,379 (GRCm39) |
D633N |
probably benign |
Het |
| C3 |
A |
G |
17: 57,522,809 (GRCm39) |
V1025A |
probably benign |
Het |
| Cc2d2a |
T |
C |
5: 43,893,487 (GRCm39) |
S1489P |
probably benign |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cdk14 |
G |
A |
5: 5,316,125 (GRCm39) |
|
probably benign |
Het |
| Clpb |
T |
C |
7: 101,355,695 (GRCm39) |
V183A |
possibly damaging |
Het |
| Cpa3 |
C |
T |
3: 20,277,478 (GRCm39) |
M232I |
possibly damaging |
Het |
| Cyp2j7 |
A |
G |
4: 96,116,796 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
A |
G |
11: 69,366,399 (GRCm39) |
I1907T |
probably damaging |
Het |
| Efemp1 |
T |
C |
11: 28,871,795 (GRCm39) |
F437L |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,483,384 (GRCm39) |
|
probably null |
Het |
| Fry |
A |
T |
5: 150,419,726 (GRCm39) |
T599S |
|
Het |
| Gm10142 |
T |
A |
10: 77,552,001 (GRCm39) |
*121R |
probably null |
Het |
| Kcng3 |
A |
C |
17: 83,895,254 (GRCm39) |
F404C |
probably damaging |
Het |
| Mefv |
T |
G |
16: 3,533,086 (GRCm39) |
H395P |
unknown |
Het |
| Mrc1 |
T |
A |
2: 14,271,168 (GRCm39) |
D357E |
possibly damaging |
Het |
| Muc15 |
A |
G |
2: 110,562,052 (GRCm39) |
T163A |
probably benign |
Het |
| Ncdn |
T |
C |
4: 126,644,199 (GRCm39) |
T208A |
probably benign |
Het |
| Or2q1 |
A |
T |
6: 42,794,557 (GRCm39) |
I51F |
probably damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Slc27a6 |
T |
C |
18: 58,705,251 (GRCm39) |
V211A |
probably benign |
Het |
| Slco3a1 |
T |
C |
7: 73,934,144 (GRCm39) |
D676G |
possibly damaging |
Het |
| Slfn4 |
T |
G |
11: 83,077,482 (GRCm39) |
M90R |
possibly damaging |
Het |
| Ssbp4 |
T |
C |
8: 71,054,955 (GRCm39) |
D68G |
probably damaging |
Het |
| Sval3 |
A |
G |
6: 41,949,371 (GRCm39) |
T70A |
possibly damaging |
Het |
| Taf1c |
C |
T |
8: 120,325,750 (GRCm39) |
R704Q |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,061,765 (GRCm39) |
D398E |
probably damaging |
Het |
| Tmprss3 |
A |
T |
17: 31,416,709 (GRCm39) |
V9E |
probably benign |
Het |
| Vps35l |
T |
A |
7: 118,345,722 (GRCm39) |
M109K |
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 |
|
|
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 |
|
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'- TCTAGACAGGGCTGCTAATGC -3'
(R):5'- ACATCAAAAGGGACCGGTAGTC -3'
Sequencing Primer
(F):5'- ATGCCTATAGTTCTTACCAAGGG -3'
(R):5'- ACCGGTAGTCCATCTGCC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation