Mutagenetix > Incidental Mutation

Incidental Mutation 'R5642:Pdpk1'

440795

Institutional Source

Beutler Lab

Gene Symbol

Pdpk1

Ensembl Gene

ENSMUSG00000024122

Gene Name

3-phosphoinositide dependent protein kinase 1

Synonyms

Pkb kinase, Pdk1

MMRRC Submission

043290-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5642 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24073680-24150924 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C at 24106855 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 122 (Y122*)

Ref Sequence

ENSEMBL: ENSMUSP00000121771 (fasta)

Gene Model

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

AlphaFold

Q9Z2A0

Predicted Effect

probably null
Transcript: ENSMUST00000052462
AA Change: Y122*

SMART Domains

Protein: ENSMUSP00000061942
Gene: ENSMUSG00000024122
AA Change: Y122*

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: Y149*

SMART Domains

Protein: ENSMUSP00000099991
Gene: ENSMUSG00000024122
AA Change: Y149*

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: Y149*

SMART Domains

Protein: ENSMUSP00000111066
Gene: ENSMUSG00000024122
AA Change: Y149*

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

SMART Domains

Protein: ENSMUSP00000111068
Gene: ENSMUSG00000024122

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: Y149*

SMART Domains

Protein: ENSMUSP00000111070
Gene: ENSMUSG00000024122
AA Change: Y149*

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

SMART Domains

Protein: ENSMUSP00000120548
Gene: ENSMUSG00000024122

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

probably null
Transcript: ENSMUST00000144533
AA Change: Y122*

SMART Domains

Protein: ENSMUSP00000121771
Gene: ENSMUSG00000024122
AA Change: Y122*

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

noncoding transcript
Transcript: ENSMUST00000150578

Predicted Effect

probably benign
Transcript: ENSMUST00000154982

SMART Domains

Protein: ENSMUSP00000115618
Gene: ENSMUSG00000024122

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: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	C	4: 42,971,831 (GRCm38)	L388P	possibly damaging	Het
4930432K21Rik	C	T	8: 84,167,485 (GRCm38)	T427I	probably damaging	Het
4932415D10Rik	T	A	10: 82,284,483 (GRCm38)	Q4231L	probably damaging	Het
Abcc1	A	G	16: 14,443,455 (GRCm38)	E699G	probably damaging	Het
Ap4e1	T	A	2: 127,064,979 (GRCm38)	V1053D	possibly damaging	Het
Apobec1	T	A	6: 122,581,497 (GRCm38)	I100F	probably damaging	Het
Atp6v1g3	G	T	1: 138,283,742 (GRCm38)	K53N	probably damaging	Het
Bag3	C	T	7: 128,546,106 (GRCm38)	R482W	probably damaging	Het
Cacna1i	A	G	15: 80,395,078 (GRCm38)	T2007A	possibly damaging	Het
Cd44	T	C	2: 102,901,342 (GRCm38)	D2G	probably damaging	Het
Cdadc1	T	A	14: 59,589,923 (GRCm38)	I100F	possibly damaging	Het
Cdh16	A	G	8: 104,618,045 (GRCm38)	F485L	probably damaging	Het
Cdhr5	T	A	7: 141,269,197 (GRCm38)	K817*	probably null	Het
Cfap46	G	T	7: 139,678,577 (GRCm38)	P260Q	probably damaging	Het
Clec11a	C	T	7: 44,306,408 (GRCm38)	E72K	possibly damaging	Het
Cnr2	C	A	4: 135,916,765 (GRCm38)	N51K	probably damaging	Het
Col3a1	T	A	1: 45,331,712 (GRCm38)		probably benign	Het
Cxcr1	G	A	1: 74,191,828 (GRCm38)	T345M	probably damaging	Het
Cyp2s1	T	C	7: 25,816,319 (GRCm38)		probably null	Het
Dalrd3	C	T	9: 108,572,290 (GRCm38)	T474M	probably damaging	Het
Ddit4	C	T	10: 59,951,505 (GRCm38)	S3N	probably benign	Het
Ddx41	T	C	13: 55,535,895 (GRCm38)	K108E	possibly damaging	Het
Ece2	A	T	16: 20,643,727 (GRCm38)	H732L	probably benign	Het
Etv3	T	G	3: 87,536,015 (GRCm38)	L302R	possibly damaging	Het
Fam135b	A	G	15: 71,462,136 (GRCm38)	S1070P	probably damaging	Het
Fam160a2	A	T	7: 105,389,882 (GRCm38)	I50N	probably damaging	Het
Gm11567	T	A	11: 99,879,611 (GRCm38)	I125N	unknown	Het
Grm3	A	G	5: 9,570,536 (GRCm38)	L236P	probably benign	Het
Hip1	T	A	5: 135,433,085 (GRCm38)	R97*	probably null	Het
Hoxa5	T	C	6: 52,204,217 (GRCm38)	Y45C	probably damaging	Het
Ighg1	T	A	12: 113,329,034 (GRCm38)	H305L	probably damaging	Het
Inpp5b	T	A	4: 124,782,436 (GRCm38)	C362S	probably benign	Het
Kif1c	A	G	11: 70,708,447 (GRCm38)	K391E	probably benign	Het
Klf9	T	C	19: 23,141,882 (GRCm38)	V43A	probably benign	Het
Krt28	T	A	11: 99,374,494 (GRCm38)	I116F	probably damaging	Het
Lct	A	T	1: 128,295,232 (GRCm38)	D1439E	probably damaging	Het
Liph	G	A	16: 21,965,995 (GRCm38)	T284M	possibly damaging	Het
Lrrc75b	T	C	10: 75,557,221 (GRCm38)	K98R	possibly damaging	Het
Lypd4	T	C	7: 24,865,179 (GRCm38)	Q178R	probably benign	Het
Map1a	T	A	2: 121,306,043 (GRCm38)	S2209T	probably damaging	Het
Map3k21	C	T	8: 125,938,824 (GRCm38)	T584I	probably benign	Het
Map3k6	T	C	4: 133,245,544 (GRCm38)	V338A	probably damaging	Het
Mapk8ip3	A	T	17: 24,903,311 (GRCm38)	V699E	possibly damaging	Het
Marc1	A	C	1: 184,810,919 (GRCm38)	S71A	probably damaging	Het
Nckap1l	T	C	15: 103,455,025 (GRCm38)	S53P	probably benign	Het
Nt5e	T	C	9: 88,327,687 (GRCm38)	M1T	probably null	Het
Nudt22	T	C	19: 6,995,528 (GRCm38)	H64R	probably damaging	Het
Olfr1048	T	C	2: 86,235,932 (GRCm38)	N294S	probably damaging	Het
Olfr108	A	T	17: 37,445,772 (GRCm38)	T84S	probably damaging	Het
Olfr198	A	G	16: 59,202,006 (GRCm38)	L140P	probably damaging	Het
Olfr314	A	T	11: 58,786,828 (GRCm38)	Y198F	probably damaging	Het
Olfr322	T	C	11: 58,666,399 (GRCm38)	I280T	possibly damaging	Het
Olfr690	A	T	7: 105,329,565 (GRCm38)	V209D	probably damaging	Het
Otogl	T	C	10: 107,886,552 (GRCm38)	I314V	probably benign	Het
Pan2	G	T	10: 128,308,100 (GRCm38)	E106D	probably benign	Het
Papss1	T	A	3: 131,631,804 (GRCm38)	Y554*	probably null	Het
Pcnx	T	C	12: 81,895,029 (GRCm38)	V67A	possibly damaging	Het
Pkd1l1	A	T	11: 8,879,202 (GRCm38)	N1463K	probably damaging	Het
Ptgfrn	C	A	3: 101,043,362 (GRCm38)	M878I	probably damaging	Het
Ranbp3	G	A	17: 56,710,703 (GRCm38)	G453E	probably benign	Het
Rapgef2	T	C	3: 79,094,850 (GRCm38)	D261G	probably damaging	Het
Reep2	A	G	18: 34,846,218 (GRCm38)	S199G	probably benign	Het
Rnpep	G	A	1: 135,277,521 (GRCm38)	T202I	probably damaging	Het
Sass6	T	A	3: 116,607,496 (GRCm38)		probably null	Het
Sema3e	A	G	5: 14,162,243 (GRCm38)	D111G	probably damaging	Het
Slc29a4	A	G	5: 142,711,972 (GRCm38)	E60G	probably damaging	Het
Sptlc3	T	C	2: 139,546,408 (GRCm38)	Y107H	probably damaging	Het
Stx6	T	C	1: 155,198,179 (GRCm38)	I245T	probably benign	Het
Syne2	T	C	12: 75,918,532 (GRCm38)	S774P	probably damaging	Het
Tbc1d16	T	A	11: 119,158,791 (GRCm38)	Q293L	probably damaging	Het
Tbc1d30	T	C	10: 121,296,787 (GRCm38)	D224G	probably damaging	Het
Tbc1d32	T	A	10: 56,150,877 (GRCm38)	N759Y	possibly damaging	Het
Tdrd12	G	T	7: 35,511,300 (GRCm38)	A166E	probably damaging	Het
Tex14	A	G	11: 87,514,220 (GRCm38)	R653G	probably benign	Het
Them6	A	T	15: 74,721,805 (GRCm38)	R171W	probably null	Het
Tln2	T	C	9: 67,296,358 (GRCm38)	T489A	probably benign	Het
Tmem87a	A	G	2: 120,403,946 (GRCm38)	F39L	probably benign	Het
Toporsl	T	A	4: 52,611,515 (GRCm38)	C469*	probably null	Het
Tpr	T	C	1: 150,423,818 (GRCm38)	S1147P	probably damaging	Het
Trp53bp1	T	C	2: 121,236,662 (GRCm38)	M528V	probably benign	Het
Trpm6	T	A	19: 18,830,207 (GRCm38)	C1039S	probably damaging	Het
Ttc16	T	A	2: 32,775,336 (GRCm38)	S5C	probably damaging	Het
Ttn	T	C	2: 76,787,068 (GRCm38)	Y14607C	probably damaging	Het
Usp6nl	T	C	2: 6,430,464 (GRCm38)	F345L	probably damaging	Het
Vmn1r205	C	T	13: 22,592,036 (GRCm38)	G299R	probably benign	Het
Vmn2r74	G	A	7: 85,957,380 (GRCm38)	H253Y	probably benign	Het
Vps13d	A	T	4: 145,170,302 (GRCm38)	D343E	possibly damaging	Het
Vwf	A	G	6: 125,603,418 (GRCm38)	E543G		Het
Wdr92	A	G	11: 17,227,263 (GRCm38)	N207S	possibly damaging	Het
Zfat	A	T	15: 68,180,916 (GRCm38)	V343E	probably damaging	Het
Zfp316	T	C	5: 143,264,091 (GRCm38)	E139G	unknown	Het
Zfp943	T	A	17: 21,992,832 (GRCm38)	C300S	probably damaging	Het
Zkscan16	A	G	4: 58,957,748 (GRCm38)	K677E	probably benign	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
R5429:Pdpk1	UTSW	17	24,091,560 (GRCm38)	missense	probably benign	0.01
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'- GCTGTCTATTGCCTCCAAGG -3'
(R):5'- AACCTTCTAACCGTGGGTGG -3'

Sequencing Primer
(F):5'- GTCTATTGCCTCCAAGGAGATCAG -3'
(R):5'- TGGGACAACTTCAGTTTATACCAG -3'

Posted On

2016-11-08