Mutagenetix > Incidental Mutation

Incidental Mutation 'R6049:Pdpk1'

483477

Institutional Source

Beutler Lab

Gene Symbol

Pdpk1

Ensembl Gene

ENSMUSG00000024122

Gene Name

3-phosphoinositide dependent protein kinase 1

Synonyms

Pkb kinase, Pdk1

MMRRC Submission

044217-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6049 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24292654-24369898 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 24317109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 251 (Y251*)

Ref Sequence

ENSEMBL: ENSMUSP00000111070 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052462] [ENSMUST00000102927] [ENSMUST00000115407] [ENSMUST00000115409] [ENSMUST00000115411]

AlphaFold

Q9Z2A0

Predicted Effect

probably null
Transcript: ENSMUST00000052462
AA Change: Y224*

SMART Domains

Protein: ENSMUSP00000061942
Gene: ENSMUSG00000024122
AA Change: Y224*

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 null
Transcript: ENSMUST00000102927
AA Change: Y251*

SMART Domains

Protein: ENSMUSP00000099991
Gene: ENSMUSG00000024122
AA Change: Y251*

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 null
Transcript: ENSMUST00000115407
AA Change: Y251*

SMART Domains

Protein: ENSMUSP00000111066
Gene: ENSMUSG00000024122
AA Change: Y251*

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 null
Transcript: ENSMUST00000115409
AA Change: Y124*

SMART Domains

Protein: ENSMUSP00000111068
Gene: ENSMUSG00000024122
AA Change: Y124*

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 null
Transcript: ENSMUST00000115411
AA Change: Y251*

SMART Domains

Protein: ENSMUSP00000111070
Gene: ENSMUSG00000024122
AA Change: Y251*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

98% (60/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	G	A	4: 103,088,520 (GRCm39)	H229Y	probably benign	Het
Aadacl2fm2	A	C	3: 59,659,570 (GRCm39)	D341A	probably damaging	Het
Abcd2	A	G	15: 91,062,439 (GRCm39)	F500L	probably benign	Het
Adgb	A	G	10: 10,253,770 (GRCm39)	L1190P	probably damaging	Het
Adgrv1	A	G	13: 81,545,473 (GRCm39)	V5604A	probably benign	Het
Ank2	T	A	3: 126,736,669 (GRCm39)	T3072S	possibly damaging	Het
Arhgap39	A	G	15: 76,611,601 (GRCm39)		probably null	Het
C6	T	C	15: 4,764,654 (GRCm39)	C117R	probably damaging	Het
Cacna1a	A	G	8: 85,365,475 (GRCm39)	E2206G	probably damaging	Het
Cd2bp2	A	T	7: 126,793,007 (GRCm39)	F338L	probably damaging	Het
Cemip2	A	T	19: 21,803,490 (GRCm39)	Q841L	probably benign	Het
Cngb1	T	C	8: 95,997,470 (GRCm39)	D575G	probably damaging	Het
Cplane2	T	A	4: 140,945,473 (GRCm39)	V108D	probably benign	Het
Crat	A	G	2: 30,293,553 (GRCm39)	F63S	probably damaging	Het
Crybg3	T	C	16: 59,364,417 (GRCm39)	T2402A	probably benign	Het
Ctsq	A	G	13: 61,186,572 (GRCm39)		probably null	Het
Cux1	T	C	5: 136,361,564 (GRCm39)	R248G	probably damaging	Het
D7Ertd443e	T	C	7: 133,899,961 (GRCm39)	H420R	probably benign	Het
Deup1	A	G	9: 15,472,552 (GRCm39)	F587L	possibly damaging	Het
Dnah6	T	C	6: 73,063,149 (GRCm39)	K2651R	probably benign	Het
Dnah7b	A	G	1: 46,124,762 (GRCm39)	I144V	probably benign	Het
Dnajc1	T	C	2: 18,236,511 (GRCm39)		probably null	Het
Fscb	T	C	12: 64,521,094 (GRCm39)	N124S	possibly damaging	Het
Gabbr2	A	G	4: 46,787,641 (GRCm39)	Y341H	probably damaging	Het
Greb1	T	A	12: 16,731,395 (GRCm39)	I1648F	probably damaging	Het
Hace1	A	T	10: 45,562,758 (GRCm39)	N758Y	probably damaging	Het
Irs2	A	C	8: 11,056,805 (GRCm39)	D542E	probably benign	Het
Kat6a	T	A	8: 23,429,053 (GRCm39)	H1469Q	possibly damaging	Het
Kif15	G	A	9: 122,840,687 (GRCm39)	R36K	probably damaging	Het
Krt42	C	T	11: 100,157,886 (GRCm39)	V193M	probably damaging	Het
Limch1	A	T	5: 67,188,203 (GRCm39)	E878V	probably benign	Het
Med18	G	T	4: 132,187,024 (GRCm39)	D158E	probably benign	Het
Med6	T	C	12: 81,638,097 (GRCm39)	N38S	probably damaging	Het
Mup13	T	C	4: 61,183,596 (GRCm39)	T76A	probably benign	Het
Nlrp4b	T	A	7: 10,448,640 (GRCm39)	L281*	probably null	Het
Or5h23	A	T	16: 58,906,509 (GRCm39)	C112*	probably null	Het
Or7g28	C	A	9: 19,272,640 (GRCm39)	G4*	probably null	Het
Or9r3	A	T	10: 129,948,481 (GRCm39)	H59Q	probably benign	Het
Pde4d	A	T	13: 109,169,119 (GRCm39)	R54*	probably null	Het
Pdzk1	A	G	3: 96,758,979 (GRCm39)	E128G	probably benign	Het
Phf12	A	G	11: 77,918,996 (GRCm39)		probably null	Het
Pnliprp2	A	G	19: 58,748,884 (GRCm39)	E63G	possibly damaging	Het
Prkcd	T	C	14: 30,329,254 (GRCm39)	E62G	possibly damaging	Het
Prl7b1	G	T	13: 27,790,161 (GRCm39)	D77E	probably benign	Het
Rbck1	G	T	2: 152,165,094 (GRCm39)	C85*	probably null	Het
Rfx3	A	T	19: 27,779,795 (GRCm39)	M481K	probably damaging	Het
Rmdn3	A	G	2: 118,983,906 (GRCm39)	F159L	probably damaging	Het
Rpusd3	A	C	6: 113,394,802 (GRCm39)		probably null	Het
Ska1	T	C	18: 74,335,671 (GRCm39)	T100A	probably benign	Het
Slc1a3	T	C	15: 8,675,177 (GRCm39)	E276G	probably damaging	Het
Slc27a6	T	A	18: 58,731,732 (GRCm39)	Y361N	probably damaging	Het
Smc1b	A	G	15: 85,005,896 (GRCm39)	L336S	probably damaging	Het
St7	A	G	6: 17,694,347 (GRCm39)	D46G	possibly damaging	Het
Supt5	A	G	7: 28,014,622 (GRCm39)	I1059T	probably benign	Het
Syne1	A	T	10: 5,297,926 (GRCm39)	S1124T	possibly damaging	Het
Szt2	A	G	4: 118,260,185 (GRCm39)	S54P	probably damaging	Het
Tanc2	G	A	11: 105,758,543 (GRCm39)	R768Q	probably damaging	Het
Tbc1d7	A	C	13: 43,312,836 (GRCm39)	M19R	probably damaging	Het
Tbpl2	T	C	2: 23,985,004 (GRCm39)	N47D	possibly damaging	Het
Tgfbr3	C	T	5: 107,266,351 (GRCm39)	A790T	probably damaging	Het
Tnr	T	C	1: 159,740,324 (GRCm39)	V1166A	probably damaging	Het
Ttn	G	A	2: 76,676,654 (GRCm39)		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
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'- CCACTGGATGGCTTTCTACC -3'
(R):5'- ATTCCAGGTGACCAGTTAAGC -3'

Sequencing Primer
(F):5'- AGGGATTTATCACTGTACCAGGCTC -3'
(R):5'- CTGATGACCAGCTTCCATCTGTATAG -3'

Posted On

2017-07-14