Mutagenetix > Incidental Mutation

Incidental Mutation 'R4074:Pdk4'

316456

Institutional Source

Beutler Lab

Gene Symbol

Pdk4

Ensembl Gene

ENSMUSG00000019577

Gene Name

pyruvate dehydrogenase kinase, isoenzyme 4

Synonyms

MMRRC Submission

040855-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4074 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5483351-5496278 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5491865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 69 (N69S)

Ref Sequence

ENSEMBL: ENSMUSP00000145377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019721] [ENSMUST00000203347]

AlphaFold

O70571

Predicted Effect

probably benign
Transcript: ENSMUST00000019721
AA Change: N165S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000019721
Gene: ENSMUSG00000019577
AA Change: N165S

Domain	Start	End	E-Value	Type
low complexity region	10	19	N/A	INTRINSIC
Pfam:BCDHK_Adom3	34	195	1.2e-51	PFAM
HATPase_c	243	368	2.05e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134068

Predicted Effect

probably benign
Transcript: ENSMUST00000203347
AA Change: N69S

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000145377
Gene: ENSMUSG00000019577
AA Change: N69S

Domain	Start	End	E-Value	Type
Pfam:BCDHK_Adom3	1	99	2.3e-25	PFAM

Meta Mutation Damage Score

0.0876

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

95% (63/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain. This protein is located in the matrix of the mitrochondria and inhibits the pyruvate dehydrogenase complex by phosphorylating one of its subunits, thereby contributing to the regulation of glucose metabolism. Expression of this gene is regulated by glucocorticoids, retinoic acid and insulin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered glucose homoeostasis during starvation. [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
4921504E06Rik	T	C	2: 19,485,401 (GRCm39)	E422G	probably damaging	Het
Ace3	A	G	11: 105,888,040 (GRCm39)	Y287C	probably damaging	Het
Adam34l	A	T	8: 44,079,387 (GRCm39)	F279Y	probably damaging	Het
Albfm1	T	A	5: 90,740,727 (GRCm39)		probably null	Het
Arfgap3	C	T	15: 83,187,330 (GRCm39)	A510T	probably damaging	Het
Atg12	A	G	18: 46,870,491 (GRCm39)	F92L	probably benign	Het
Axl	A	G	7: 25,463,336 (GRCm39)		probably benign	Het
Chgb	C	A	2: 132,635,847 (GRCm39)	D596E	possibly damaging	Het
Cmtr2	T	A	8: 110,947,849 (GRCm39)	F53Y	possibly damaging	Het
Cnot10	A	G	9: 114,452,015 (GRCm39)	F254L	possibly damaging	Het
Crb2	G	T	2: 37,676,855 (GRCm39)	C251F	probably damaging	Het
Crybg3	A	T	16: 59,376,120 (GRCm39)		probably benign	Het
Cytl1	A	G	5: 37,892,940 (GRCm39)	I17V	unknown	Het
D930020B18Rik	A	G	10: 121,492,123 (GRCm39)		probably benign	Het
Depp1	A	G	6: 116,629,029 (GRCm39)	N124S	possibly damaging	Het
Dnah11	A	G	12: 118,009,413 (GRCm39)	M2083T	probably benign	Het
Dst	A	G	1: 34,231,350 (GRCm39)	E2656G	probably benign	Het
Dst	T	C	1: 34,267,542 (GRCm39)	F4995L	probably damaging	Het
Egf	C	T	3: 129,529,618 (GRCm39)	R264Q	probably benign	Het
Eps15l1	A	G	8: 73,134,128 (GRCm39)	I482T	probably damaging	Het
Eqtn	A	G	4: 94,808,199 (GRCm39)	I201T	possibly damaging	Het
Ero1a	A	T	14: 45,529,893 (GRCm39)		probably null	Het
Etl4	T	C	2: 20,814,030 (GRCm39)		probably benign	Het
Fcho1	T	C	8: 72,163,013 (GRCm39)	H672R	probably damaging	Het
Glt6d1	T	C	2: 25,684,139 (GRCm39)	D289G	probably damaging	Het
Gm5134	T	A	10: 75,844,365 (GRCm39)	W574R	probably damaging	Het
Gm5414	T	C	15: 101,533,988 (GRCm39)	N332D	probably benign	Het
Gnb3	T	A	6: 124,813,942 (GRCm39)	E215D	probably benign	Het
Ighv1-30	C	T	12: 114,781,021 (GRCm39)		noncoding transcript	Het
Ighv1-4	A	G	12: 114,451,147 (GRCm39)	S15P	possibly damaging	Het
Igkv1-133	T	G	6: 67,702,505 (GRCm39)	Y74*	probably null	Het
Il17f	G	A	1: 20,847,987 (GRCm39)		probably benign	Het
Itpr2	C	T	6: 146,274,742 (GRCm39)		probably null	Het
Krtap31-1	T	C	11: 99,799,058 (GRCm39)	I87T	possibly damaging	Het
Lilra6	A	T	7: 3,917,889 (GRCm39)	F85Y	probably benign	Het
Lrig3	C	T	10: 125,849,277 (GRCm39)	T999I	probably benign	Het
Myh7b	T	C	2: 155,460,678 (GRCm39)	I277T	probably damaging	Het
Myo3b	T	C	2: 70,119,808 (GRCm39)	F984S	probably damaging	Het
Naip5	G	A	13: 100,382,572 (GRCm39)	R46W	probably damaging	Het
Nup205	T	A	6: 35,168,975 (GRCm39)		probably null	Het
Or52e18	A	T	7: 104,609,923 (GRCm39)	N5K	probably damaging	Het
Pde11a	C	T	2: 76,168,242 (GRCm39)	R237H	probably damaging	Het
Pot1a	T	C	6: 25,752,356 (GRCm39)		probably null	Het
Pramel33	A	T	5: 93,633,057 (GRCm39)	M50K	probably damaging	Het
Psg23	A	T	7: 18,341,043 (GRCm39)	S404T	possibly damaging	Het
Rev1	T	G	1: 38,093,319 (GRCm39)	K1075T	possibly damaging	Het
Rrbp1	T	G	2: 143,805,030 (GRCm39)	Q1045P	probably benign	Het
Scg2	A	C	1: 79,414,574 (GRCm39)	F50V	probably damaging	Het
Sel1l3	A	G	5: 53,311,629 (GRCm39)	Y619H	probably damaging	Het
Slco1a5	A	T	6: 142,213,950 (GRCm39)	I57K	possibly damaging	Het
Srp72	C	A	5: 77,146,098 (GRCm39)	T633K	probably benign	Het
Swt1	A	G	1: 151,270,520 (GRCm39)	V565A	probably benign	Het
Tesk1	A	G	4: 43,443,606 (GRCm39)	I58V	possibly damaging	Het
Tm2d3	T	A	7: 65,347,498 (GRCm39)	L49*	probably null	Het
Tmprss11e	T	C	5: 86,863,502 (GRCm39)	T188A	possibly damaging	Het
Tnxb	A	G	17: 34,890,845 (GRCm39)	N396S	probably benign	Het
Tuba8	T	A	6: 121,199,756 (GRCm39)	S147T	probably damaging	Het
Usp8	A	G	2: 126,594,290 (GRCm39)	D822G	probably damaging	Het
Vmn2r13	T	A	5: 109,304,566 (GRCm39)	I622F	probably damaging	Het
Vmn2r24	A	T	6: 123,764,374 (GRCm39)	H417L	possibly damaging	Het
Zfp608	A	T	18: 55,031,180 (GRCm39)	V920E	probably damaging	Het
Zmym2	T	C	14: 57,140,461 (GRCm39)	L100P	probably damaging	Het

Other mutations in Pdk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01337:Pdk4	APN	6	5,491,869 (GRCm39)	missense	probably benign	0.16
IGL01524:Pdk4	APN	6	5,491,979 (GRCm39)	missense	probably damaging	1.00
IGL01814:Pdk4	APN	6	5,491,828 (GRCm39)	critical splice donor site	probably null
IGL02136:Pdk4	APN	6	5,486,715 (GRCm39)	missense	probably damaging	1.00
IGL02630:Pdk4	APN	6	5,491,671 (GRCm39)	missense	possibly damaging	0.63
IGL02689:Pdk4	APN	6	5,487,408 (GRCm39)	missense	probably benign	0.44
R0277:Pdk4	UTSW	6	5,491,620 (GRCm39)	missense	probably damaging	1.00
R0335:Pdk4	UTSW	6	5,491,138 (GRCm39)	missense	probably benign	0.00
R0990:Pdk4	UTSW	6	5,485,577 (GRCm39)	missense	probably benign	0.39
R1792:Pdk4	UTSW	6	5,489,166 (GRCm39)	missense	probably damaging	1.00
R2043:Pdk4	UTSW	6	5,485,502 (GRCm39)	missense	probably benign	0.05
R2091:Pdk4	UTSW	6	5,494,857 (GRCm39)	intron	probably benign
R4916:Pdk4	UTSW	6	5,489,157 (GRCm39)	missense	possibly damaging	0.79
R5414:Pdk4	UTSW	6	5,485,499 (GRCm39)	missense	probably benign
R5867:Pdk4	UTSW	6	5,487,452 (GRCm39)	missense	probably benign
R6772:Pdk4	UTSW	6	5,487,141 (GRCm39)	missense	probably benign
R7146:Pdk4	UTSW	6	5,491,068 (GRCm39)	critical splice donor site	probably null
R7193:Pdk4	UTSW	6	5,487,089 (GRCm39)	missense	probably benign
R7774:Pdk4	UTSW	6	5,492,757 (GRCm39)	missense	possibly damaging	0.50
R7873:Pdk4	UTSW	6	5,487,086 (GRCm39)	missense	probably benign	0.00
R7995:Pdk4	UTSW	6	5,487,093 (GRCm39)	missense	probably benign	0.42
R8782:Pdk4	UTSW	6	5,494,962 (GRCm39)	missense	possibly damaging	0.95
R9483:Pdk4	UTSW	6	5,486,716 (GRCm39)	missense	probably benign	0.00
R9501:Pdk4	UTSW	6	5,491,084 (GRCm39)	missense	probably damaging	0.99
R9596:Pdk4	UTSW	6	5,491,842 (GRCm39)	missense	probably benign
Z1176:Pdk4	UTSW	6	5,487,170 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAATGTGGCTTGGGTTTCCC -3'
(R):5'- CACTAACTATGAATGTCTGGCTTAGG -3'

Sequencing Primer
(F):5'- CCCGTCTTTGAGTCACTGAATATGAG -3'
(R):5'- GTTTGTAGACACGCTGGTCAAAG -3'

Posted On

2015-05-15