Mutagenetix > Incidental Mutation

Incidental Mutation 'R0335:Pdk4'

26186

Institutional Source

Beutler Lab

Gene Symbol

Pdk4

Ensembl Gene

ENSMUSG00000019577

Gene Name

pyruvate dehydrogenase kinase, isoenzyme 4

Synonyms

MMRRC Submission

038544-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0335 (G1)

Quality Score

193

Status

Validated

Chromosome

Chromosomal Location

5483351-5496278 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5491138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 209 (E209G)

Ref Sequence

ENSEMBL: ENSMUSP00000019721 (fasta)

Gene Model

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

AlphaFold

O70571

Predicted Effect

probably benign
Transcript: ENSMUST00000019721
AA Change: E209G

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

SMART Domains

Protein: ENSMUSP00000019721
Gene: ENSMUSG00000019577
AA Change: E209G

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

SMART Domains

Protein: ENSMUSP00000145377
Gene: ENSMUSG00000019577

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

Meta Mutation Damage Score

0.3566

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 94.6%
20x: 87.5%

Validation Efficiency

100% (89/89)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	G	T	15: 11,311,144 (GRCm39)	D1134Y	possibly damaging	Het
Add3	A	G	19: 53,225,259 (GRCm39)	T460A	probably benign	Het
Amer3	A	C	1: 34,618,381 (GRCm39)		probably benign	Het
Arhgap22	C	T	14: 33,081,065 (GRCm39)		probably benign	Het
Arhgap32	T	G	9: 32,171,056 (GRCm39)	S1279A	probably benign	Het
Bcas1	G	A	2: 170,260,601 (GRCm39)	T26M	probably damaging	Het
Begain	A	T	12: 109,004,860 (GRCm39)	F256I	probably damaging	Het
Bltp1	T	C	3: 37,023,301 (GRCm39)	V2210A	probably damaging	Het
Cabin1	A	T	10: 75,492,883 (GRCm39)	I1804N	probably damaging	Het
Cad	G	A	5: 31,231,329 (GRCm39)		probably benign	Het
Carmil1	G	A	13: 24,257,966 (GRCm39)	S762L	probably damaging	Het
Ccdc93	T	A	1: 121,420,706 (GRCm39)	L529Q	probably damaging	Het
Cdh12	T	A	15: 21,578,635 (GRCm39)		probably null	Het
Cep15	A	G	14: 12,301,266 (GRCm38)	E124G	possibly damaging	Het
Clip2	T	A	5: 134,564,069 (GRCm39)		probably benign	Het
Cmip	T	C	8: 118,172,105 (GRCm39)	I480T	probably damaging	Het
Cnot1	A	T	8: 96,498,628 (GRCm39)	I203K	probably benign	Het
Col18a1	G	A	10: 76,895,197 (GRCm39)	P1155S	probably damaging	Het
Col1a2	T	A	6: 4,531,956 (GRCm39)		probably benign	Het
Crybg3	A	T	16: 59,364,503 (GRCm39)	L2373Q	probably damaging	Het
D130043K22Rik	A	T	13: 25,071,860 (GRCm39)	I935F	probably damaging	Het
Dapl1	T	A	2: 59,326,938 (GRCm39)	D61E	possibly damaging	Het
Def6	A	G	17: 28,447,043 (GRCm39)	D558G	possibly damaging	Het
Dnah6	T	C	6: 73,046,382 (GRCm39)		probably benign	Het
Dvl2	G	A	11: 69,891,861 (GRCm39)		probably benign	Het
Ecd	A	C	14: 20,370,802 (GRCm39)	V639G	probably benign	Het
Epg5	C	T	18: 78,029,687 (GRCm39)	T1350M	probably benign	Het
Erbb4	C	A	1: 68,298,418 (GRCm39)	M657I	probably benign	Het
Evi5	T	C	5: 107,960,277 (GRCm39)	R431G	probably benign	Het
Fbxo11	G	A	17: 88,323,041 (GRCm39)	A115V	possibly damaging	Het
Fgfr2	T	C	7: 129,797,979 (GRCm39)	T192A	probably benign	Het
Gas7	C	T	11: 67,552,878 (GRCm39)	A146V	possibly damaging	Het
Gatad2b	T	A	3: 90,263,489 (GRCm39)	S529T	probably benign	Het
Gm10722	G	T	9: 3,001,048 (GRCm39)	Q41H	probably null	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gm7535	A	G	17: 18,131,374 (GRCm39)		probably benign	Het
Gstm1	T	A	3: 107,920,012 (GRCm39)	N193I	possibly damaging	Het
Heatr5b	G	A	17: 79,135,375 (GRCm39)	P252L	probably benign	Het
Hmgb1	A	G	5: 148,987,441 (GRCm39)	V36A	probably benign	Het
Hrh1	G	T	6: 114,457,193 (GRCm39)	W158L	probably damaging	Het
Ighv6-4	T	C	12: 114,370,294 (GRCm39)	M53V	probably benign	Het
Iqgap2	T	A	13: 95,772,141 (GRCm39)	D1346V	probably damaging	Het
Kcng3	A	T	17: 83,895,166 (GRCm39)	N433K	possibly damaging	Het
Kif1a	T	A	1: 92,980,288 (GRCm39)		probably benign	Het
Lctl	C	A	9: 64,026,169 (GRCm39)	Q75K	probably benign	Het
Ldb3	T	A	14: 34,300,608 (GRCm39)	I89F	possibly damaging	Het
Lrrc49	A	T	9: 60,584,378 (GRCm39)	L156Q	probably damaging	Het
Mark2	G	T	19: 7,259,193 (GRCm39)	T83K	probably benign	Het
Ms4a15	A	T	19: 10,957,574 (GRCm39)	D170E	probably damaging	Het
Msantd2	A	G	9: 37,434,056 (GRCm39)	S99G	possibly damaging	Het
Nemf	G	T	12: 69,400,577 (GRCm39)	T124N	probably benign	Het
Nlrp9c	A	T	7: 26,093,561 (GRCm39)	F35I	possibly damaging	Het
Nwd2	A	G	5: 63,962,116 (GRCm39)	I567V	probably benign	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or11l3	T	C	11: 58,516,566 (GRCm39)	Y102C	probably damaging	Het
Or13p8	A	G	4: 118,584,367 (GRCm39)	I308V	probably null	Het
Or5v1b	A	C	17: 37,841,533 (GRCm39)	I222L	probably benign	Het
Or7g16	T	A	9: 18,727,290 (GRCm39)	Q100L	probably damaging	Het
Plch1	T	C	3: 63,618,399 (GRCm39)	Q712R	probably damaging	Het
Pnpla1	T	A	17: 29,105,852 (GRCm39)	V569E	possibly damaging	Het
Prkar2a	A	T	9: 108,596,457 (GRCm39)	D134V	probably damaging	Het
Ptov1	T	A	7: 44,514,046 (GRCm39)	Q40L	possibly damaging	Het
Ptprq	T	C	10: 107,544,589 (GRCm39)	I314V	probably benign	Het
Rabl2	T	C	15: 89,468,169 (GRCm39)	K66E	probably damaging	Het
Rnf38	A	G	4: 44,152,507 (GRCm39)	V19A	possibly damaging	Het
Scn2a	T	A	2: 65,512,435 (GRCm39)	W191R	probably damaging	Het
Sec22b	T	A	3: 97,828,572 (GRCm39)	F212I	possibly damaging	Het
Sec24c	T	A	14: 20,738,783 (GRCm39)		probably null	Het
Septin2	T	C	1: 93,423,321 (GRCm39)	S51P	probably damaging	Het
Serpinb1a	T	C	13: 33,032,639 (GRCm39)	N90S	probably damaging	Het
Slc1a2	C	T	2: 102,574,208 (GRCm39)	T206I	probably benign	Het
Slc25a19	C	A	11: 115,515,032 (GRCm39)	R42L	probably damaging	Het
St14	G	A	9: 31,002,620 (GRCm39)		probably benign	Het
Stxbp1	C	T	2: 32,692,917 (GRCm39)		probably benign	Het
Tas2r131	C	T	6: 132,934,792 (GRCm39)	V6I	probably benign	Het
Tdo2	T	A	3: 81,871,307 (GRCm39)	M235L	probably benign	Het
Tenm3	T	G	8: 48,685,140 (GRCm39)	H2432P	probably damaging	Het
Tmprss15	C	T	16: 78,821,630 (GRCm39)		probably benign	Het
Tmx1	A	G	12: 70,500,030 (GRCm39)	N30D	probably benign	Het
Tom1	A	G	8: 75,791,020 (GRCm39)		probably null	Het
Top2a	T	C	11: 98,913,781 (GRCm39)	N20S	probably benign	Het
Ttc23l	T	A	15: 10,540,049 (GRCm39)	T145S	probably benign	Het
Unc13b	T	A	4: 43,236,983 (GRCm39)	M3351K	possibly damaging	Het
Vmn1r47	T	C	6: 89,999,641 (GRCm39)	S258P	probably damaging	Het
Vmn2r8	T	G	5: 108,945,317 (GRCm39)		probably null	Het
Vps11	T	C	9: 44,265,135 (GRCm39)	Q641R	probably null	Het
Wapl	T	A	14: 34,414,281 (GRCm39)	I381N	probably damaging	Het
Zmym6	G	A	4: 127,016,601 (GRCm39)	G794E	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
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
R4074:Pdk4	UTSW	6	5,491,865 (GRCm39)	missense	probably benign	0.13
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'- AGAACACAAAAGCTGCCTTGTATTTGC -3'
(R):5'- CCACATTGGAAGTATCGACCCAAACTG -3'

Sequencing Primer
(F):5'- TTGCAAAGACCCACAGTACTAC -3'
(R):5'- TCGACCCAAACTGTGATGTG -3'

Posted On

2013-04-16