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 |
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
| 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 |
|---|
| 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 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
Incidental Mutation