Mutagenetix > Incidental Mutation

Incidental Mutation 'R8827:Pdpk1'

673574

Institutional Source

Beutler Lab

Gene Symbol

Pdpk1

Ensembl Gene

ENSMUSG00000024122

Gene Name

3-phosphoinositide dependent protein kinase 1

Synonyms

Pkb kinase, Pdk1

MMRRC Submission

068658-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8827 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24292654-24369898 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24307191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 380 (D380G)

Ref Sequence

ENSEMBL: ENSMUSP00000099991 (fasta)

Gene Model

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

AlphaFold

Q9Z2A0

Predicted Effect

probably benign
Transcript: ENSMUST00000052462
AA Change: D353G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000061942
Gene: ENSMUSG00000024122
AA Change: D353G

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: D380G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000099991
Gene: ENSMUSG00000024122
AA Change: D380G

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: D380G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000111066
Gene: ENSMUSG00000024122
AA Change: D380G

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: D253G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000111068
Gene: ENSMUSG00000024122
AA Change: D253G

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: D380G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000111070
Gene: ENSMUSG00000024122
AA Change: D380G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 89,839,324 (GRCm39)	I810V	probably benign	Het
Adcy7	T	C	8: 89,036,327 (GRCm39)	F128S	possibly damaging	Het
Ankhd1	C	T	18: 36,757,633 (GRCm39)	Q188*	probably null	Het
Asxl2	A	T	12: 3,550,501 (GRCm39)	I748L	probably benign	Het
Atp8b2	T	C	3: 89,853,307 (GRCm39)	N70S		Het
Bmp1	A	G	14: 70,728,082 (GRCm39)	Y616H	probably damaging	Het
Brap	T	A	5: 121,810,261 (GRCm39)	D248E	probably benign	Het
Ccdc13	G	A	9: 121,645,765 (GRCm39)	S294L	probably benign	Het
Cdkl1	T	C	12: 69,794,123 (GRCm39)	Y338C	probably benign	Het
Cfap54	A	T	10: 92,774,110 (GRCm39)	S1993T	unknown	Het
Chl1	G	T	6: 103,670,111 (GRCm39)	M500I	probably benign	Het
Cntn3	G	C	6: 102,246,094 (GRCm39)	L352V	probably benign	Het
Cog6	T	C	3: 52,890,535 (GRCm39)	D635G	probably benign	Het
Col22a1	C	A	15: 71,774,665 (GRCm39)		probably null	Het
Cyp3a16	A	T	5: 145,387,008 (GRCm39)	D327E	probably benign	Het
D6Ertd527e	A	T	6: 87,088,226 (GRCm39)	S130C	unknown	Het
Dhodh	T	C	8: 110,334,928 (GRCm39)		probably benign	Het
Dync2li1	C	T	17: 84,955,079 (GRCm39)	S246L	possibly damaging	Het
Eif3c	A	T	7: 126,157,894 (GRCm39)	F316Y	probably damaging	Het
Esp34	A	T	17: 38,865,091 (GRCm39)		probably benign	Het
Fam98a	T	C	17: 75,851,824 (GRCm39)	M86V	possibly damaging	Het
Gm29394	G	T	15: 57,932,717 (GRCm39)	Q7K	probably damaging	Het
Gtf2i	C	T	5: 134,269,096 (GRCm39)		probably null	Het
H2bc27	C	T	11: 58,839,917 (GRCm39)	P51L	probably benign	Het
Hecw1	A	G	13: 14,438,720 (GRCm39)	Y888H	probably damaging	Het
Kcnma1	A	T	14: 23,417,548 (GRCm39)	W894R	probably damaging	Het
Klhl25	C	A	7: 75,516,391 (GRCm39)	D432E	possibly damaging	Het
Klhl7	G	A	5: 24,363,635 (GRCm39)		probably null	Het
Lamc1	A	T	1: 153,097,424 (GRCm39)	L1540Q	probably damaging	Het
Map3k5	T	A	10: 19,902,003 (GRCm39)	V358E	probably damaging	Het
Map4k5	C	T	12: 69,903,635 (GRCm39)	D57N	possibly damaging	Het
Mpped2	T	C	2: 106,691,928 (GRCm39)	M211T	possibly damaging	Het
Nat9	T	C	11: 115,075,339 (GRCm39)	T101A	probably benign	Het
Nprl3	A	T	11: 32,184,742 (GRCm39)	F447L	probably benign	Het
Nup50l	G	T	6: 96,142,293 (GRCm39)	N250K	probably benign	Het
Or4p22	T	C	2: 88,317,165 (GRCm39)	S30P	probably damaging	Het
Or5h24	G	A	16: 58,919,061 (GRCm39)	T98I	unknown	Het
Or5w16	C	T	2: 87,576,777 (GRCm39)	P79L	possibly damaging	Het
Orc3	A	T	4: 34,605,569 (GRCm39)	F104Y	probably benign	Het
Pcdha6	T	A	18: 37,102,802 (GRCm39)	V665E	probably damaging	Het
Phkg1	T	A	5: 129,893,894 (GRCm39)	E280D	probably benign	Het
Pkdrej	T	A	15: 85,699,732 (GRCm39)	Y2068F	possibly damaging	Het
Plekhg5	A	G	4: 152,191,462 (GRCm39)		probably benign	Het
Plekhh3	G	A	11: 101,058,380 (GRCm39)	P222L	probably damaging	Het
Prdm1	A	T	10: 44,334,476 (GRCm39)	V10E	probably benign	Het
Prdm6	G	T	18: 53,701,267 (GRCm39)	Q513H	probably damaging	Het
Pros1	T	C	16: 62,746,827 (GRCm39)	V593A	probably benign	Het
Radil	T	C	5: 142,493,859 (GRCm39)	H250R	probably damaging	Het
Rasa2	C	T	9: 96,434,403 (GRCm39)	R628Q	probably damaging	Het
Ryr2	T	C	13: 11,572,934 (GRCm39)	E4884G	possibly damaging	Het
Shh	A	G	5: 28,663,125 (GRCm39)	S348P	probably damaging	Het
Slc1a4	A	T	11: 20,270,237 (GRCm39)		probably benign	Het
Slc32a1	A	C	2: 158,453,274 (GRCm39)	D38A	probably damaging	Het
Slc35f3	TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,780 (GRCm39)		probably benign	Het
Slc45a4	A	T	15: 73,458,316 (GRCm39)	I411N	probably benign	Het
Slc49a4	A	T	16: 35,554,320 (GRCm39)	C274S	probably benign	Het
Slc7a10	C	A	7: 34,897,313 (GRCm39)	S248Y	probably damaging	Het
Smc3	T	A	19: 53,611,085 (GRCm39)	D258E	probably benign	Het
Spata31h1	T	A	10: 82,129,617 (GRCm39)	Q1131L	probably benign	Het
Sphk1	A	G	11: 116,426,590 (GRCm39)	D182G	probably damaging	Het
Srgap3	A	G	6: 112,716,302 (GRCm39)	Y633H	probably damaging	Het
Sspo	T	G	6: 48,434,606 (GRCm39)	F1033V	possibly damaging	Het
Syne2	T	C	12: 76,095,357 (GRCm39)	V488A	probably benign	Het
Tead1	A	C	7: 112,475,449 (GRCm39)	K299N	probably damaging	Het
Tmem150c	A	C	5: 100,240,654 (GRCm39)	S69R	probably damaging	Het
Tnfaip3	T	A	10: 18,880,795 (GRCm39)	K424M	probably damaging	Het
Trib3	A	G	2: 152,180,188 (GRCm39)	V335A	possibly damaging	Het
Ttc39c	G	A	18: 12,828,436 (GRCm39)	V199I	probably benign	Het
Vangl1	A	T	3: 102,070,736 (GRCm39)	F400Y	probably damaging	Het
Vmn2r106	A	T	17: 20,487,868 (GRCm39)	S844T	probably benign	Het
Wwtr1	A	G	3: 57,482,616 (GRCm39)	V77A	probably damaging	Het
Yju2b	T	A	8: 84,986,987 (GRCm39)	Q170L	possibly damaging	Het
Zc3h4	C	A	7: 16,163,123 (GRCm39)	P500T	unknown	Het
Zfand2a	C	T	5: 139,460,607 (GRCm39)		probably null	Het
Zfr2	A	G	10: 81,078,619 (GRCm39)	T284A	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
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
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'- TTACCAAGGGTTTCCACCG -3'
(R):5'- AGTCGCCCAATAGCTGTTGG -3'

Sequencing Primer
(F):5'- AAGGGTTTCCACCGGCTTG -3'
(R):5'- CAATAGCTGTTGGAAGAGAATCTGTC -3'

Posted On

2021-07-15