Mutagenetix > Incidental Mutation

Incidental Mutation 'R1817:Pdpk1'

204543

Institutional Source

Beutler Lab

Gene Symbol

Pdpk1

Ensembl Gene

ENSMUSG00000024122

Gene Name

3-phosphoinositide dependent protein kinase 1

Synonyms

Pkb kinase, Pdk1

MMRRC Submission

039845-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1817 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24292654-24369898 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24329878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 53 (K53E)

Ref Sequence

ENSEMBL: ENSMUSP00000115618 (fasta)

Gene Model

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

AlphaFold

Q9Z2A0

Predicted Effect

probably damaging
Transcript: ENSMUST00000052462
AA Change: K53E

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000061942
Gene: ENSMUSG00000024122
AA Change: K53E

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 damaging
Transcript: ENSMUST00000102927
AA Change: K80E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099991
Gene: ENSMUSG00000024122
AA Change: K80E

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 damaging
Transcript: ENSMUST00000115407
AA Change: K80E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111066
Gene: ENSMUSG00000024122
AA Change: K80E

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: K80E

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

SMART Domains

Protein: ENSMUSP00000111068
Gene: ENSMUSG00000024122
AA Change: K80E

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

possibly damaging
Transcript: ENSMUST00000115411
AA Change: K80E

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111070
Gene: ENSMUSG00000024122
AA Change: K80E

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

possibly damaging
Transcript: ENSMUST00000128997
AA Change: K53E

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000120548
Gene: ENSMUSG00000024122
AA Change: K53E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140906

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144533
AA Change: K53E

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121771
Gene: ENSMUSG00000024122
AA Change: K53E

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 damaging
Transcript: ENSMUST00000154982
AA Change: K53E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115618
Gene: ENSMUSG00000024122
AA Change: K53E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150578

Meta Mutation Damage Score

0.2112

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 91.9%

Validation Efficiency

95% (90/95)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,110,144 (GRCm39)	S600T	probably benign	Het
Acly	T	A	11: 100,386,717 (GRCm39)	Q615L	probably benign	Het
Adgrf1	C	A	17: 43,620,924 (GRCm39)	T387K	probably benign	Het
Afg3l1	G	T	8: 124,228,670 (GRCm39)	K745N	probably damaging	Het
Armc8	T	C	9: 99,418,312 (GRCm39)	T39A	possibly damaging	Het
Atm	C	A	9: 53,403,533 (GRCm39)		probably benign	Het
Babam2	A	G	5: 32,214,890 (GRCm39)	T324A	probably damaging	Het
Btd	C	A	14: 31,384,246 (GRCm39)	D77E	possibly damaging	Het
Cadm1	T	A	9: 47,740,668 (GRCm39)		probably benign	Het
Card11	A	T	5: 140,871,315 (GRCm39)	D729E	probably benign	Het
Ccni	G	T	5: 93,335,967 (GRCm39)	T144K	possibly damaging	Het
Ceacam23	C	T	7: 17,607,255 (GRCm39)		noncoding transcript	Het
Cecr2	A	G	6: 120,708,228 (GRCm39)	T77A	probably damaging	Het
Cgas	A	G	9: 78,341,593 (GRCm39)		probably null	Het
Cpsf7	T	C	19: 10,512,803 (GRCm39)	F296L	possibly damaging	Het
Cyfip1	C	A	7: 55,523,196 (GRCm39)	N70K	possibly damaging	Het
Cyp4a12b	A	G	4: 115,271,259 (GRCm39)		probably benign	Het
Ddx20	A	T	3: 105,585,896 (GRCm39)	Y816*	probably null	Het
Ddx59	A	G	1: 136,360,245 (GRCm39)	I420V	probably damaging	Het
Dgat1	T	A	15: 76,386,703 (GRCm39)	M445L	probably damaging	Het
Dnah5	T	A	15: 28,246,546 (GRCm39)	L628*	probably null	Het
Dnah7a	A	C	1: 53,598,307 (GRCm39)	D1409E	probably benign	Het
Dnmt1	T	C	9: 20,838,422 (GRCm39)	T215A	probably benign	Het
Dsg4	C	T	18: 20,604,302 (GRCm39)	T923M	probably damaging	Het
Enox1	A	G	14: 77,852,915 (GRCm39)	I394V	possibly damaging	Het
Esrp2	A	T	8: 106,861,250 (GRCm39)	M183K	probably damaging	Het
Fam171a1	C	T	2: 3,179,410 (GRCm39)	P79S	probably benign	Het
Fga	A	G	3: 82,939,082 (GRCm39)	T486A	probably benign	Het
Fkbp10	G	T	11: 100,306,715 (GRCm39)	A36S	probably benign	Het
Fnip1	A	G	11: 54,393,279 (GRCm39)	T572A	probably benign	Het
Fxn	A	C	19: 24,257,765 (GRCm39)		probably null	Het
Gaa	C	T	11: 119,175,324 (GRCm39)	Q901*	probably null	Het
Gabrg1	A	G	5: 70,911,594 (GRCm39)	M344T	probably benign	Het
Galnt7	C	T	8: 57,991,212 (GRCm39)	V433M	probably damaging	Het
Gin1	A	G	1: 97,712,951 (GRCm39)		probably null	Het
Hydin	A	C	8: 111,259,459 (GRCm39)	D2477A	probably benign	Het
Igsf6	T	C	7: 120,670,031 (GRCm39)	Y37C	probably damaging	Het
Il18rap	A	G	1: 40,570,687 (GRCm39)	I210V	probably benign	Het
Kif3a	T	C	11: 53,489,561 (GRCm39)	Y138H	probably damaging	Het
Klra17	A	G	6: 129,845,681 (GRCm39)		probably null	Het
Lcorl	A	T	5: 45,952,688 (GRCm39)	I55N	probably damaging	Het
Lrrc49	A	G	9: 60,510,059 (GRCm39)	S398P	possibly damaging	Het
Ltv1	A	G	10: 13,055,018 (GRCm39)	L384S	probably damaging	Het
Mageb3	A	T	2: 121,784,918 (GRCm39)	Y261*	probably null	Het
Mical3	T	G	6: 121,019,196 (GRCm39)	T9P	probably benign	Het
Myrip	C	T	9: 120,217,228 (GRCm39)	S49L	probably damaging	Het
Nrap	T	C	19: 56,372,487 (GRCm39)		probably benign	Het
Or2m12	T	C	16: 19,104,627 (GRCm39)	N289D	probably damaging	Het
Or4k5	A	G	14: 50,385,728 (GRCm39)	V201A	probably benign	Het
Otoa	A	T	7: 120,759,753 (GRCm39)		probably benign	Het
Pals2	T	G	6: 50,140,411 (GRCm39)	F144V	probably benign	Het
Parp11	T	A	6: 127,467,008 (GRCm39)	I133N	probably damaging	Het
Pcnx1	A	G	12: 81,965,416 (GRCm39)	T528A	probably benign	Het
Pde4c	A	G	8: 71,179,638 (GRCm39)	H63R	probably benign	Het
Pdzd7	A	T	19: 45,024,615 (GRCm39)	M468K	probably damaging	Het
Perm1	C	A	4: 156,303,061 (GRCm39)	P535Q	possibly damaging	Het
Pgap1	C	A	1: 54,575,128 (GRCm39)	A265S	probably benign	Het
Pik3c2a	A	T	7: 115,975,747 (GRCm39)		probably null	Het
Plxnd1	T	C	6: 115,957,562 (GRCm39)	T491A	possibly damaging	Het
Pms1	A	T	1: 53,246,128 (GRCm39)	D470E	probably benign	Het
Prf1	C	A	10: 61,138,762 (GRCm39)	T240N	probably damaging	Het
Prune2	A	G	19: 17,099,445 (GRCm39)	T1650A	probably benign	Het
Ptprf	A	G	4: 118,080,462 (GRCm39)	L1264P	probably benign	Het
Ptprs	A	G	17: 56,726,527 (GRCm39)	S948P	probably damaging	Het
Rapgef1	T	C	2: 29,576,268 (GRCm39)	V117A	probably damaging	Het
Rnf123	A	G	9: 107,940,125 (GRCm39)	V756A	probably benign	Het
Sez6l2	A	G	7: 126,566,291 (GRCm39)	E741G	probably damaging	Het
Shc3	A	T	13: 51,626,888 (GRCm39)	I125K	possibly damaging	Het
Smr3a	A	T	5: 88,155,917 (GRCm39)		probably benign	Het
Spef2	C	T	15: 9,584,194 (GRCm39)	E1624K	probably damaging	Het
St6gal1	A	T	16: 23,140,083 (GRCm39)	K85*	probably null	Het
Taf1b	T	G	12: 24,597,121 (GRCm39)	D353E	possibly damaging	Het
Tcp10b	C	T	17: 13,286,590 (GRCm39)	P180S	possibly damaging	Het
Tlr9	A	T	9: 106,102,142 (GRCm39)	M478L	probably benign	Het
Tpr	A	T	1: 150,295,654 (GRCm39)	E892D	probably damaging	Het
Trio	C	T	15: 27,742,581 (GRCm39)	W22*	probably null	Het
Usp14	A	G	18: 10,024,673 (GRCm39)	V8A	probably damaging	Het
Vmn2r19	A	T	6: 123,307,011 (GRCm39)	K506N	possibly damaging	Het
Vmn2r45	T	A	7: 8,475,372 (GRCm39)	N552I	probably damaging	Het
Vmn2r56	A	T	7: 12,449,542 (GRCm39)	M232K	probably benign	Het
Vps13b	T	A	15: 35,910,788 (GRCm39)	F3517L	possibly damaging	Het
Yif1a	C	T	19: 5,142,333 (GRCm39)	R247*	probably null	Het
Zbtb5	A	G	4: 44,993,767 (GRCm39)	V539A	probably benign	Het
Zfp180	G	A	7: 23,804,652 (GRCm39)	R357Q	probably damaging	Het
Zfp536	A	G	7: 37,268,042 (GRCm39)	L458P	probably damaging	Het
Zfp646	G	A	7: 127,482,292 (GRCm39)	G1490S	probably benign	Het
Zfp970	C	T	2: 177,167,976 (GRCm39)	H517Y	probably damaging	Het
Zranb3	A	T	1: 127,945,293 (GRCm39)		probably null	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
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
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'- CTCTCTCCAAGACTCTAGTGGC -3'
(R):5'- CATTCAGTCCAGTGTGGTGC -3'

Sequencing Primer
(F):5'- ACTCTAGTGGCATGCACAG -3'
(R):5'- GTGGTGCTATGTTCCTGCCC -3'

Posted On

2014-06-23