Mutagenetix > Incidental Mutation

Incidental Mutation 'R5429:Pdpk1'

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5429 (G1)

Quality Score

225

Status

Not validated

Chromosome

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	P199S	probably benign	Het
Akap13	T	G	7: 75,602,904	S261A	possibly damaging	Het
Ankrd34a	G	A	3: 96,597,521	G14R	probably damaging	Het
Auts2	G	A	5: 131,472,335	T289M	probably damaging	Het
Btaf1	G	A	19: 36,994,857	V1331I	possibly damaging	Het
Ciz1	T	A	2: 32,376,043	I609K	possibly damaging	Het
Clca3b	C	T	3: 144,846,459	V154I	probably damaging	Het
Csde1	A	G	3: 103,052,841	T564A	possibly damaging	Het
Csrnp2	A	G	15: 100,482,054	V452A	probably benign	Het
Ctnnd1	C	T	2: 84,616,789	V371M	probably damaging	Het
Dock6	T	C	9: 21,832,881	D677G	probably damaging	Het
Filip1l	A	T	16: 57,570,255	E402V	probably damaging	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Ghr	G	A	15: 3,388,675	Q37*	probably null	Het
Gm10770	C	T	2: 150,179,423	R58H	probably benign	Het
Gm12789	T	C	4: 101,989,961	Y148H	possibly damaging	Het
Herc4	T	A	10: 63,275,013	N234K	probably benign	Het
Itih3	A	G	14: 30,923,521	V10A	probably benign	Het
Kat14	T	A	2: 144,393,323	D234E	probably benign	Het
Kif13a	A	G	13: 46,772,769		probably null	Het
Kif2b	A	G	11: 91,577,229	V76A	probably benign	Het
Mboat1	A	G	13: 30,219,667	T150A	probably benign	Het
Mfsd1	T	A	3: 67,599,960	L398H	probably damaging	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Nfx1	T	C	4: 41,004,343	C705R	probably damaging	Het
Olfr318	T	A	11: 58,720,524	N175Y	probably damaging	Het
Olfr60	A	G	7: 140,345,273	F239L	possibly damaging	Het
Pcdh10	T	C	3: 45,384,200	S931P	probably benign	Het
Ppp2r2a	A	T	14: 67,023,756	F172I	probably damaging	Het
Ppp2r5e	T	A	12: 75,453,763	D452V	probably damaging	Het
Rims2	A	T	15: 39,345,355	T185S	probably damaging	Het
Rpusd4	T	C	9: 35,272,602	V209A	probably benign	Het
Safb	T	C	17: 56,588,822	V20A	probably benign	Het
Scaf8	C	A	17: 3,197,110	P903T	probably benign	Het
Slc30a7	A	G	3: 116,006,925	S31P	possibly damaging	Het
Slc9b1	T	C	3: 135,373,263		probably null	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Tbc1d32	T	C	10: 56,027,993	D1226G	probably damaging	Het
Tlnrd1	G	T	7: 83,882,314	T303N	probably damaging	Het
Tmc1	G	T	19: 20,789,622	N738K	possibly damaging	Het
Tmem41a	A	G	16: 21,934,856	I255T	probably benign	Het
Trim7	G	A	11: 48,849,955	C293Y	probably damaging	Het
Trpc6	C	T	9: 8,634,074	Q385*	probably null	Het
Ttc39b	A	G	4: 83,243,953	I330T	possibly damaging	Het
Vil1	C	T	1: 74,432,331	T757I	probably benign	Het
Zfp462	T	C	4: 55,060,077	V1201A	probably damaging	Het
Zfp473	T	A	7: 44,732,848	E686V	possibly damaging	Het

Other mutations in Pdpk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00767:Pdpk1	APN	17	24106861	missense	possibly damaging	0.87
IGL01467:Pdpk1	APN	17	24088170	missense	probably damaging	0.98
IGL02251:Pdpk1	APN	17	24079638	missense	probably damaging	1.00
IGL03411:Pdpk1	APN	17	24101644	missense	probably damaging	1.00
R0152:Pdpk1	UTSW	17	24106946	missense	possibly damaging	0.93
R0610:Pdpk1	UTSW	17	24098171	critical splice acceptor site	probably null
R1208:Pdpk1	UTSW	17	24093609	critical splice acceptor site	probably null
R1208:Pdpk1	UTSW	17	24093609	critical splice acceptor site	probably null
R1817:Pdpk1	UTSW	17	24110904	missense	probably damaging	1.00
R1819:Pdpk1	UTSW	17	24110904	missense	probably damaging	1.00
R1822:Pdpk1	UTSW	17	24098176	splice site	probably benign
R1823:Pdpk1	UTSW	17	24098176	splice site	probably benign
R3783:Pdpk1	UTSW	17	24110850	missense	possibly damaging	0.95
R4653:Pdpk1	UTSW	17	24106897	missense	probably benign	0.25
R5000:Pdpk1	UTSW	17	24111045	missense	possibly damaging	0.66
R5385:Pdpk1	UTSW	17	24098140	nonsense	probably null
R5425:Pdpk1	UTSW	17	24098121	missense	probably damaging	1.00
R5642:Pdpk1	UTSW	17	24106855	nonsense	probably null
R5936:Pdpk1	UTSW	17	24093229	missense	probably damaging	1.00
R6049:Pdpk1	UTSW	17	24098135	nonsense	probably null
R6332:Pdpk1	UTSW	17	24106922	missense	probably damaging	0.99
R6693:Pdpk1	UTSW	17	24111126	splice site	probably null
R7423:Pdpk1	UTSW	17	24110900	missense	probably benign	0.08
R7432:Pdpk1	UTSW	17	24101669	missense	probably benign	0.43
R8279:Pdpk1	UTSW	17	24088173	missense	probably benign
R8698:Pdpk1	UTSW	17	24079568	missense	probably damaging	1.00
R8827:Pdpk1	UTSW	17	24088217	missense	probably benign	0.02
R9255:Pdpk1	UTSW	17	24106964	missense	possibly damaging	0.83
RF016:Pdpk1	UTSW	17	24093281	missense	probably benign	0.01
Z1177:Pdpk1	UTSW	17	24088013	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