Mutagenetix > Incidental Mutation

Incidental Mutation 'R2570:Pdk1'

252318

Institutional Source

Beutler Lab

Gene Symbol

Pdk1

Ensembl Gene

ENSMUSG00000006494

Gene Name

pyruvate dehydrogenase kinase, isoenzyme 1

Synonyms

D530020C15Rik

MMRRC Submission

040428-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2570 (G1)

Quality Score

162

Status

Not validated

Chromosome

Chromosomal Location

71703568-71734202 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 71703904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 64 (D64A)

Ref Sequence

ENSEMBL: ENSMUSP00000006669 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006669]

AlphaFold

Q8BFP9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006669
AA Change: D64A

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000006669
Gene: ENSMUSG00000006494
AA Change: D64A

Domain	Start	End	E-Value	Type
low complexity region	22	38	N/A	INTRINSIC
Pfam:BCDHK_Adom3	56	218	6.4e-52	PFAM
HATPase_c	266	391	1.82e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129887

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134362

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148249

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151358

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156036

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,768,267 (GRCm39)	N763I	probably damaging	Het
Actr8	T	C	14: 29,709,239 (GRCm39)	V281A	probably damaging	Het
Adam1b	A	T	5: 121,639,811 (GRCm39)	N411K	probably damaging	Het
Adamdec1	T	A	14: 68,816,657 (GRCm39)	Q77L	probably damaging	Het
Adgre4	T	A	17: 56,085,878 (GRCm39)	F59Y	possibly damaging	Het
Akr1c18	T	C	13: 4,192,163 (GRCm39)	N178S	probably benign	Het
Aldh1a7	T	A	19: 20,677,320 (GRCm39)	T434S	probably benign	Het
Bcl10	T	A	3: 145,638,785 (GRCm39)	N142K	probably benign	Het
C1qc	T	C	4: 136,617,402 (GRCm39)	I231M	probably benign	Het
Cacna1b	A	T	2: 24,496,649 (GRCm39)	L2307*	probably null	Het
Cadm2	G	A	16: 66,612,271 (GRCm39)	S106L	probably damaging	Het
Cdc42bpa	G	A	1: 179,977,742 (GRCm39)	R1518Q	possibly damaging	Het
Cdk12	T	G	11: 98,094,618 (GRCm39)	M142R	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cspg4b	C	T	13: 113,455,121 (GRCm39)	T389I	probably benign	Het
Cyp2c50	C	G	19: 40,078,764 (GRCm39)	H90D	probably benign	Het
Dach1	A	G	14: 98,138,847 (GRCm39)	M480T	probably benign	Het
Dennd1a	A	T	2: 37,734,795 (GRCm39)	F57L	probably damaging	Het
Dhcr24	T	C	4: 106,443,029 (GRCm39)	F355L	probably benign	Het
Drc1	A	G	5: 30,512,609 (GRCm39)	R339G	probably damaging	Het
Efcab3	T	A	11: 104,624,490 (GRCm39)	S840R	probably damaging	Het
Efna5	A	T	17: 63,188,023 (GRCm39)	Y35N	probably benign	Het
Ehmt1	A	G	2: 24,705,753 (GRCm39)	V811A	probably damaging	Het
Fam135a	A	T	1: 24,061,045 (GRCm39)	V1114E	probably damaging	Het
Frmd8	C	A	19: 5,924,740 (GRCm39)	R28L	probably damaging	Het
Gm9936	A	G	5: 114,995,605 (GRCm39)		probably benign	Het
Hgsnat	C	T	8: 26,435,280 (GRCm39)	W618*	probably null	Het
Itgal	T	C	7: 126,913,268 (GRCm39)	F622L	probably damaging	Het
Kalrn	C	T	16: 34,130,865 (GRCm39)	E451K	probably damaging	Het
Kat2a	A	T	11: 100,601,648 (GRCm39)	F256I	probably damaging	Het
Lama4	A	T	10: 38,951,354 (GRCm39)	D1033V	possibly damaging	Het
Lama4	T	A	10: 38,982,043 (GRCm39)	D1757E	probably damaging	Het
Laptm5	T	C	4: 130,659,358 (GRCm39)	Y212H	probably damaging	Het
Lsm10	T	C	4: 125,991,716 (GRCm39)	L24P	probably damaging	Het
Mtcl3	A	T	10: 29,022,761 (GRCm39)	Q36L	possibly damaging	Het
Mtfp1	T	C	11: 4,044,504 (GRCm39)	E27G	probably damaging	Het
Ncaph2	C	A	15: 89,254,678 (GRCm39)	D399E	probably benign	Het
Ncor2	T	C	5: 125,105,864 (GRCm39)		probably null	Het
Nek9	A	C	12: 85,379,320 (GRCm39)	Y195*	probably null	Het
Npas1	T	C	7: 16,208,628 (GRCm39)	D83G	probably damaging	Het
Nrsn2	A	T	2: 152,211,741 (GRCm39)	F97I	possibly damaging	Het
Oas1c	T	C	5: 120,943,503 (GRCm39)	N10S	probably benign	Het
Or2ag12	A	G	7: 106,276,874 (GRCm39)	I273T	probably benign	Het
Or55b10	T	C	7: 102,143,106 (GRCm39)	N292S	probably damaging	Het
Or7e165	T	A	9: 19,695,305 (GRCm39)	L292Q	probably damaging	Het
Pcdha4	A	T	18: 37,086,665 (GRCm39)	T283S	probably benign	Het
Pramel17	T	C	4: 101,694,443 (GRCm39)	T147A	probably benign	Het
Ptpdc1	C	T	13: 48,739,539 (GRCm39)	A631T	probably benign	Het
Rasal2	G	T	1: 156,988,870 (GRCm39)	A660E	possibly damaging	Het
Sgpp2	T	A	1: 78,336,787 (GRCm39)	V55E	possibly damaging	Het
Shank2	A	T	7: 143,622,507 (GRCm39)	I214F	probably damaging	Het
Slfn14	T	C	11: 83,174,433 (GRCm39)	N186S	probably benign	Het
Sptbn5	A	T	2: 119,879,121 (GRCm39)		noncoding transcript	Het
Stradb	C	T	1: 59,027,743 (GRCm39)	T91I	probably damaging	Het
Sulf2	T	C	2: 165,927,721 (GRCm39)	I359V	probably benign	Het
Tbl3	A	T	17: 24,922,290 (GRCm39)	M405K	possibly damaging	Het
Tecta	G	T	9: 42,243,848 (GRCm39)	D2001E	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tgfbi	T	A	13: 56,786,521 (GRCm39)		probably null	Het
Tmem132a	A	T	19: 10,837,106 (GRCm39)	L612Q	probably null	Het
Tnf	T	C	17: 35,419,476 (GRCm39)	N102S	probably damaging	Het
Trib3	A	T	2: 152,185,156 (GRCm39)	V31D	probably benign	Het
Ube2q2	T	A	9: 55,099,140 (GRCm39)	F248L	probably benign	Het
Usf3	T	C	16: 44,036,744 (GRCm39)	V408A	probably benign	Het
Vmn1r159	T	C	7: 22,542,307 (GRCm39)	M242V	probably benign	Het
Vmn2r105	A	T	17: 20,447,585 (GRCm39)	L413H	probably damaging	Het
Zbtb2	T	G	10: 4,318,673 (GRCm39)	N451T	probably damaging	Het
Zfp593	C	A	4: 133,972,869 (GRCm39)		probably benign	Het

Other mutations in Pdk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01409:Pdk1	APN	2	71,726,123 (GRCm39)	missense	probably benign	0.00
IGL01643:Pdk1	APN	2	71,728,049 (GRCm39)	missense	probably damaging	1.00
IGL02672:Pdk1	APN	2	71,726,096 (GRCm39)	missense	probably damaging	1.00
IGL02833:Pdk1	APN	2	71,727,989 (GRCm39)	critical splice acceptor site	probably null
IGL03271:Pdk1	APN	2	71,710,374 (GRCm39)	splice site	probably benign
IGL03400:Pdk1	APN	2	71,726,091 (GRCm39)	missense	probably benign	0.25
R0329:Pdk1	UTSW	2	71,726,018 (GRCm39)	splice site	probably benign
R0564:Pdk1	UTSW	2	71,710,383 (GRCm39)	nonsense	probably null
R1653:Pdk1	UTSW	2	71,719,339 (GRCm39)	critical splice donor site	probably null
R5137:Pdk1	UTSW	2	71,713,913 (GRCm39)	missense	possibly damaging	0.90
R5932:Pdk1	UTSW	2	71,713,760 (GRCm39)	splice site	probably null
R6109:Pdk1	UTSW	2	71,713,850 (GRCm39)	missense	probably benign	0.23
R7107:Pdk1	UTSW	2	71,726,085 (GRCm39)	missense	probably benign	0.00
R7227:Pdk1	UTSW	2	71,714,245 (GRCm39)	missense	possibly damaging	0.75
R7663:Pdk1	UTSW	2	71,705,742 (GRCm39)	splice site	probably null
R8011:Pdk1	UTSW	2	71,705,796 (GRCm39)	missense	probably benign	0.05
R9178:Pdk1	UTSW	2	71,730,402 (GRCm39)	missense	probably benign	0.00
RF020:Pdk1	UTSW	2	71,714,240 (GRCm39)	missense	possibly damaging	0.84
RF060:Pdk1	UTSW	2	71,703,789 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGGGCGTGTCTTTAACCAGG -3'
(R):5'- TAGTCGCACGTCCCTGTTAC -3'

Sequencing Primer
(F):5'- CTCGGTATGAGGCTGGCAAG -3'
(R):5'- GTCCCTGTTACGTGCCCG -3'

Posted On

2014-12-04