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)
|
Stock # |
R5429 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
24292654-24369898 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24310534 bp (GRCm39)
|
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
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: E332G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000099991 Gene: ENSMUSG00000024122 AA Change: E332G
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: E332G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000111066 Gene: ENSMUSG00000024122 AA Change: E332G
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: E205G
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000111068 Gene: ENSMUSG00000024122 AA Change: E205G
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: E332G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000111070 Gene: ENSMUSG00000024122 AA Change: E332G
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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap13 |
T |
G |
7: 75,252,652 (GRCm39) |
S261A |
possibly damaging |
Het |
Ankrd34a |
G |
A |
3: 96,504,837 (GRCm39) |
G14R |
probably damaging |
Het |
Auts2 |
G |
A |
5: 131,501,173 (GRCm39) |
T289M |
probably damaging |
Het |
Btaf1 |
G |
A |
19: 36,972,257 (GRCm39) |
V1331I |
possibly damaging |
Het |
Ciz1 |
T |
A |
2: 32,266,055 (GRCm39) |
I609K |
possibly damaging |
Het |
Clca3b |
C |
T |
3: 144,552,220 (GRCm39) |
V154I |
probably damaging |
Het |
Csde1 |
A |
G |
3: 102,960,157 (GRCm39) |
T564A |
possibly damaging |
Het |
Csrnp2 |
A |
G |
15: 100,379,935 (GRCm39) |
V452A |
probably benign |
Het |
Ctnnd1 |
C |
T |
2: 84,447,133 (GRCm39) |
V371M |
probably damaging |
Het |
Dock6 |
T |
C |
9: 21,744,177 (GRCm39) |
D677G |
probably damaging |
Het |
Filip1l |
A |
T |
16: 57,390,618 (GRCm39) |
E402V |
probably damaging |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
Ghr |
G |
A |
15: 3,418,157 (GRCm39) |
Q37* |
probably null |
Het |
Gm10770 |
C |
T |
2: 150,021,343 (GRCm39) |
R58H |
probably benign |
Het |
Gm12789 |
T |
C |
4: 101,847,158 (GRCm39) |
Y148H |
possibly damaging |
Het |
Herc4 |
T |
A |
10: 63,110,792 (GRCm39) |
N234K |
probably benign |
Het |
Itih3 |
A |
G |
14: 30,645,478 (GRCm39) |
V10A |
probably benign |
Het |
Kat14 |
T |
A |
2: 144,235,243 (GRCm39) |
D234E |
probably benign |
Het |
Kif13a |
A |
G |
13: 46,926,245 (GRCm39) |
|
probably null |
Het |
Kif2b |
A |
G |
11: 91,468,055 (GRCm39) |
V76A |
probably benign |
Het |
Mboat1 |
A |
G |
13: 30,403,650 (GRCm39) |
T150A |
probably benign |
Het |
Mfsd1 |
T |
A |
3: 67,507,293 (GRCm39) |
L398H |
probably damaging |
Het |
Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
Nfx1 |
T |
C |
4: 41,004,343 (GRCm39) |
C705R |
probably damaging |
Het |
Or13a27 |
A |
G |
7: 139,925,186 (GRCm39) |
F239L |
possibly damaging |
Het |
Or2ak5 |
T |
A |
11: 58,611,350 (GRCm39) |
N175Y |
probably damaging |
Het |
Pcdh10 |
T |
C |
3: 45,338,635 (GRCm39) |
S931P |
probably benign |
Het |
Ppp2r2a |
A |
T |
14: 67,261,205 (GRCm39) |
F172I |
probably damaging |
Het |
Ppp2r5e |
T |
A |
12: 75,500,537 (GRCm39) |
D452V |
probably damaging |
Het |
Rims2 |
A |
T |
15: 39,208,751 (GRCm39) |
T185S |
probably damaging |
Het |
Rpusd4 |
T |
C |
9: 35,183,898 (GRCm39) |
V209A |
probably benign |
Het |
Safb |
T |
C |
17: 56,895,822 (GRCm39) |
V20A |
probably benign |
Het |
Scaf8 |
C |
A |
17: 3,247,385 (GRCm39) |
P903T |
probably benign |
Het |
Slc30a7 |
A |
G |
3: 115,800,574 (GRCm39) |
S31P |
possibly damaging |
Het |
Slc9b1 |
T |
C |
3: 135,079,024 (GRCm39) |
|
probably null |
Het |
Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
Tbc1d32 |
T |
C |
10: 55,904,089 (GRCm39) |
D1226G |
probably damaging |
Het |
Tlnrd1 |
G |
T |
7: 83,531,522 (GRCm39) |
T303N |
probably damaging |
Het |
Tmc1 |
G |
T |
19: 20,766,986 (GRCm39) |
N738K |
possibly damaging |
Het |
Tmem41a |
A |
G |
16: 21,753,606 (GRCm39) |
I255T |
probably benign |
Het |
Trim7 |
G |
A |
11: 48,740,782 (GRCm39) |
C293Y |
probably damaging |
Het |
Trpc6 |
C |
T |
9: 8,634,075 (GRCm39) |
Q385* |
probably null |
Het |
Ttc39b |
A |
G |
4: 83,162,190 (GRCm39) |
I330T |
possibly damaging |
Het |
Vil1 |
C |
T |
1: 74,471,490 (GRCm39) |
T757I |
probably benign |
Het |
Zfp462 |
T |
C |
4: 55,060,077 (GRCm39) |
V1201A |
probably damaging |
Het |
Zfp473 |
T |
A |
7: 44,382,272 (GRCm39) |
E686V |
possibly damaging |
Het |
Zfp998 |
G |
A |
13: 66,579,887 (GRCm39) |
P199S |
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 |
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'- AGCAGAATTTCTTTTGCCTGGG -3'
(R):5'- TGGTCTGAGGCAAGAGTCCTAG -3'
Sequencing Primer
(F):5'- AGAATTTCTTTTGCCTGGGCTACAC -3'
(R):5'- GTCTGAGGCAAGAGTCCTAGTTAATC -3'
|
Posted On |
2016-09-01 |