Mutagenetix > Incidental Mutation

Incidental Mutation 'R7423:Pdpk1'

575873

Institutional Source

Beutler Lab

Gene Symbol

Pdpk1

Ensembl Gene

ENSMUSG00000024122

Gene Name

3-phosphoinositide dependent protein kinase 1

Synonyms

Pkb kinase, Pdk1

MMRRC Submission

045501-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7423 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24292654-24369898 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 24329874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 81 (R81L)

Ref Sequence

ENSEMBL: ENSMUSP00000099991 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052462] [ENSMUST00000102927] [ENSMUST00000115407] [ENSMUST00000115409] [ENSMUST00000115411] [ENSMUST00000128997] [ENSMUST00000144533] [ENSMUST00000154982]

AlphaFold

Q9Z2A0

Predicted Effect

probably benign
Transcript: ENSMUST00000052462
AA Change: R54L

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000061942
Gene: ENSMUSG00000024122
AA Change: R54L

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: R81L

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000099991
Gene: ENSMUSG00000024122
AA Change: R81L

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: R81L

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000111066
Gene: ENSMUSG00000024122
AA Change: R81L

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: R81L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111068
Gene: ENSMUSG00000024122
AA Change: R81L

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: R81L

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000111070
Gene: ENSMUSG00000024122
AA Change: R81L

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

probably benign
Transcript: ENSMUST00000128997
AA Change: R54L

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000120548
Gene: ENSMUSG00000024122
AA Change: R54L

Domain	Start	End	E-Value	Type
low complexity region	8	17	N/A	INTRINSIC
low complexity region	38	50	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144533
AA Change: R54L

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000121771
Gene: ENSMUSG00000024122
AA Change: R54L

Domain	Start	End	E-Value	Type
low complexity region	8	17	N/A	INTRINSIC
low complexity region	38	50	N/A	INTRINSIC
Pfam:Pkinase	58	128	2.8e-12	PFAM
Pfam:Pkinase_Tyr	58	128	9.2e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154982
AA Change: R54L

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000115618
Gene: ENSMUSG00000024122
AA Change: R54L

Domain	Start	End	E-Value	Type
low complexity region	8	17	N/A	INTRINSIC
low complexity region	38	50	N/A	INTRINSIC
Pfam:Pkinase	58	111	6e-7	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

96% (91/95)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg2	A	T	17: 57,175,257 (GRCm39)	M85K	probably benign	Het
Actn4	C	T	7: 28,593,680 (GRCm39)	A905T	probably damaging	Het
Aff1	T	A	5: 103,994,967 (GRCm39)	V1055D	probably damaging	Het
Aox3	A	G	1: 58,160,228 (GRCm39)	E137G	possibly damaging	Het
Apaf1	A	T	10: 90,895,468 (GRCm39)	D443E	probably damaging	Het
Arl5b	C	A	2: 15,072,983 (GRCm39)	A28E	probably damaging	Het
Atg16l1	T	C	1: 87,714,023 (GRCm39)	V478A	probably damaging	Het
Atp6v1f	G	C	6: 29,468,105 (GRCm39)	E13Q	probably null	Het
Atpaf1	A	T	4: 115,647,827 (GRCm39)	K162M	probably damaging	Het
C3	A	T	17: 57,521,767 (GRCm39)	L1100Q	probably damaging	Het
Ccr1	A	G	9: 123,764,422 (GRCm39)	L36P	probably damaging	Het
Cct3	T	C	3: 88,216,503 (GRCm39)	L153S	probably benign	Het
Chd4	A	G	6: 125,105,822 (GRCm39)	D1813G	possibly damaging	Het
Chrm3	T	C	13: 9,928,845 (GRCm39)	I64V	probably benign	Het
Cnot2	A	T	10: 116,328,303 (GRCm39)	V477E	probably damaging	Het
Csf2rb2	T	A	15: 78,176,760 (GRCm39)	I211F	possibly damaging	Het
Dnah8	T	C	17: 30,923,743 (GRCm39)	L1237P	possibly damaging	Het
Dnttip2	T	C	3: 122,069,175 (GRCm39)	V130A	probably benign	Het
Dock10	G	A	1: 80,501,497 (GRCm39)	A1852V	possibly damaging	Het
Dock3	A	G	9: 106,844,370 (GRCm39)	V910A	probably damaging	Het
Drgx	A	G	14: 32,350,778 (GRCm39)	S205G	probably damaging	Het
Fbrs	G	A	7: 127,088,633 (GRCm39)	W738*	probably null	Het
Fmnl3	T	A	15: 99,227,281 (GRCm39)	D162V	probably damaging	Het
Fosl2	A	G	5: 32,307,807 (GRCm39)	R133G	probably damaging	Het
Frmpd1	A	G	4: 45,256,948 (GRCm39)	Q172R	probably damaging	Het
Fsd1l	A	T	4: 53,686,406 (GRCm39)	D273V	probably damaging	Het
Fstl4	T	A	11: 52,959,382 (GRCm39)	M141K	possibly damaging	Het
Gcfc2	A	G	6: 81,923,541 (GRCm39)	D535G	probably damaging	Het
Gm19410	A	C	8: 36,271,761 (GRCm39)	D1277A	probably benign	Het
Gnmt	T	A	17: 47,037,066 (GRCm39)	N211Y	probably damaging	Het
Hic2	A	G	16: 17,075,993 (GRCm39)	D274G	probably damaging	Het
Hnrnpu	A	G	1: 178,156,849 (GRCm39)		probably benign	Het
Icam5	T	C	9: 20,948,201 (GRCm39)	S670P	probably benign	Het
Ighv5-4	A	T	12: 113,561,120 (GRCm39)	L100Q	probably damaging	Het
Il17rb	A	T	14: 29,719,072 (GRCm39)	S337T	probably damaging	Het
Inf2	G	T	12: 112,576,172 (GRCm39)	R883L	unknown	Het
Inhbc	C	T	10: 127,193,275 (GRCm39)	C247Y	probably damaging	Het
Ints4	A	G	7: 97,156,926 (GRCm39)	K333E	probably damaging	Het
Iyd	A	T	10: 3,497,088 (GRCm39)	I148F	probably damaging	Het
Klk1b26	A	T	7: 43,664,193 (GRCm39)	D16V	probably damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lama2	A	T	10: 27,088,222 (GRCm39)	S852T	probably benign	Het
Mbtd1	A	G	11: 93,834,622 (GRCm39)	E600G	probably benign	Het
Mfap3	T	G	11: 57,420,329 (GRCm39)	N103K	probably damaging	Het
Mtor	G	A	4: 148,640,801 (GRCm39)	E2536K	possibly damaging	Het
Mug2	G	A	6: 122,056,685 (GRCm39)	S1210N	probably benign	Het
Nat8	G	A	6: 85,807,477 (GRCm39)	L219F	probably benign	Het
Nisch	A	G	14: 30,893,658 (GRCm39)	V1305A	probably benign	Het
Nup153	A	T	13: 46,850,120 (GRCm39)		probably null	Het
Or3a1b	G	A	11: 74,012,811 (GRCm39)	R232H	probably benign	Het
Otud6b	A	T	4: 14,825,858 (GRCm39)		probably null	Het
Pbld2	A	G	10: 62,883,783 (GRCm39)	T83A	probably damaging	Het
Pcx	A	T	19: 4,671,206 (GRCm39)	M1144L	probably benign	Het
Pik3cd	A	T	4: 149,736,220 (GRCm39)		probably null	Het
Plch2	A	C	4: 155,068,194 (GRCm39)	D1477E	probably damaging	Het
Plek2	A	G	12: 78,946,884 (GRCm39)	I51T	probably damaging	Het
Plekhn1	A	G	4: 156,315,142 (GRCm39)	V505A	probably benign	Het
Pofut2	T	C	10: 77,098,273 (GRCm39)	S129P	possibly damaging	Het
Prdx5	C	A	19: 6,887,370 (GRCm39)		probably benign	Het
Proca1	G	T	11: 78,085,643 (GRCm39)		probably benign	Het
Ptprs	A	C	17: 56,721,793 (GRCm39)	Y1752D	probably damaging	Het
Pum1	G	A	4: 130,501,856 (GRCm39)	V1127M	probably damaging	Het
Ralbp1	T	C	17: 66,165,976 (GRCm39)	R403G	probably damaging	Het
Reps1	A	T	10: 17,969,635 (GRCm39)	H246L	possibly damaging	Het
Rps6kc1	A	C	1: 190,531,293 (GRCm39)	M903R	probably damaging	Het
Rubcnl	A	G	14: 75,287,083 (GRCm39)	T584A	probably benign	Het
Samd9l	A	T	6: 3,374,408 (GRCm39)	V951E	probably damaging	Het
Sbf2	A	G	7: 110,038,055 (GRCm39)	F463L	possibly damaging	Het
Sdr16c6	G	A	4: 4,076,921 (GRCm39)		probably benign	Het
Shoc1	A	T	4: 59,076,264 (GRCm39)	S560T	probably benign	Het
Slc26a8	A	G	17: 28,867,177 (GRCm39)	I548T	probably benign	Het
Slc2a13	T	A	15: 91,456,883 (GRCm39)	I140F	probably damaging	Het
Smtn	A	T	11: 3,481,200 (GRCm39)		probably null	Het
Sobp	G	T	10: 42,898,564 (GRCm39)	C340*	probably null	Het
Sox6	A	T	7: 115,149,258 (GRCm39)	V413E	probably benign	Het
Spin1	T	C	13: 51,277,326 (GRCm39)		probably null	Het
Sra1	T	C	18: 36,800,536 (GRCm39)	T224A	probably benign	Het
Sv2c	A	T	13: 96,185,056 (GRCm39)	F207Y	probably benign	Het
Tcp10c	T	A	17: 13,581,503 (GRCm39)		probably null	Het
Tkt	G	A	14: 30,292,992 (GRCm39)	G490S	possibly damaging	Het
Tpgs1	G	T	10: 79,511,655 (GRCm39)	A266S	probably damaging	Het
Tprg1	T	G	16: 25,241,003 (GRCm39)	S260A	probably damaging	Het
Trdv2-1	T	A	14: 54,183,935 (GRCm39)	W56R	probably damaging	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Trpc4	T	A	3: 54,225,450 (GRCm39)	V933E	probably benign	Het
Ulk4	A	T	9: 120,932,687 (GRCm39)	M1051K	possibly damaging	Het
Unc119b	A	G	5: 115,272,743 (GRCm39)	L76P	probably damaging	Het
Vmn2r15	G	A	5: 109,445,394 (GRCm39)	S10F	probably benign	Het
Vwce	A	G	19: 10,641,704 (GRCm39)	E810G	probably benign	Het
Wdr7	T	A	18: 63,910,451 (GRCm39)		probably null	Het
Wnk2	T	A	13: 49,191,608 (GRCm39)	E1283V	probably benign	Het
Zfp28	T	C	7: 6,396,956 (GRCm39)	C464R	probably damaging	Het
Zpld1	C	T	16: 55,054,027 (GRCm39)	C255Y	probably damaging	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
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'- TCTAGTGGCATGCACAGCAG -3'
(R):5'- ATGACGCTGTGCCCATTCAG -3'

Sequencing Primer
(F):5'- GCAGACAACCACAGGGGC -3'
(R):5'- CCCATTCAGTCCAGTGTGGTG -3'

Posted On

2019-10-07