Mutagenetix > Incidental Mutation

Incidental Mutation 'R7227:Pdk1'

562208

Institutional Source

Beutler Lab

Gene Symbol

Pdk1

Ensembl Gene

ENSMUSG00000006494

Gene Name

pyruvate dehydrogenase kinase, isoenzyme 1

Synonyms

D530020C15Rik

MMRRC Submission

045299-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7227 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71703568-71734202 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71714245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 218 (N218K)

Ref Sequence

ENSEMBL: ENSMUSP00000006669 (fasta)

Gene Model

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

AlphaFold

Q8BFP9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006669
AA Change: N218K

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000006669
Gene: ENSMUSG00000006494
AA Change: N218K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

97% (57/59)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 130,952,449 (GRCm39)	L344H	probably damaging	Het
Abcb1b	T	A	5: 8,875,593 (GRCm39)	S589T	probably damaging	Het
Acsm2	A	C	7: 119,190,556 (GRCm39)	I520L	probably benign	Het
Ap2a2	T	C	7: 141,200,784 (GRCm39)	Y544H	probably damaging	Het
Ascc1	T	A	10: 59,843,560 (GRCm39)	Y41N	probably benign	Het
Bend3	T	A	10: 43,387,401 (GRCm39)	L598Q	probably damaging	Het
Cfap74	T	G	4: 155,545,405 (GRCm39)	Y1108*	probably null	Het
Cxcl17	C	A	7: 25,102,319 (GRCm39)	R41S	probably damaging	Het
Cyp2c69	C	A	19: 39,869,610 (GRCm39)	M136I	possibly damaging	Het
Dnah2	A	G	11: 69,312,222 (GRCm39)	Y4370H	probably damaging	Het
Dzip3	T	A	16: 48,771,932 (GRCm39)	Q579L	probably damaging	Het
Enpp3	C	T	10: 24,693,742 (GRCm39)	M195I	unknown	Het
Esyt2	A	G	12: 116,305,745 (GRCm39)	D325G	probably damaging	Het
Fat1	T	G	8: 45,463,646 (GRCm39)	I1396S	probably benign	Het
Gigyf1	T	A	5: 137,522,085 (GRCm39)	I661K	unknown	Het
Gja1	T	A	10: 56,263,752 (GRCm39)	L37Q	probably damaging	Het
Hivep1	T	C	13: 42,310,387 (GRCm39)	S876P	probably benign	Het
Hk3	C	T	13: 55,160,053 (GRCm39)	R362H	probably benign	Het
Ier3ip1	T	A	18: 77,027,330 (GRCm39)	M53K	probably benign	Het
Klhl5	T	C	5: 65,298,631 (GRCm39)	S137P	probably benign	Het
Kremen2	G	T	17: 23,963,573 (GRCm39)	Y70*	probably null	Het
Lag3	C	T	6: 124,885,457 (GRCm39)	G308S	possibly damaging	Het
Mab21l4	G	T	1: 93,079,736 (GRCm39)	N451K	probably benign	Het
Map4k2	T	A	19: 6,396,624 (GRCm39)	L542Q	probably damaging	Het
Mef2d	G	A	3: 88,065,514 (GRCm39)		probably null	Het
Mkrn3	C	A	7: 62,069,415 (GRCm39)	R125S	probably benign	Het
Mpp3	T	A	11: 101,895,904 (GRCm39)	Y457F	possibly damaging	Het
Mrpl12	T	A	11: 120,379,178 (GRCm39)	I175N	probably damaging	Het
Mybbp1a	G	T	11: 72,338,585 (GRCm39)	K728N	possibly damaging	Het
Nfkb1	C	T	3: 135,332,420 (GRCm39)	V112M	probably damaging	Het
Nucb2	A	T	7: 116,125,311 (GRCm39)	D123V	probably damaging	Het
Or12j2	A	G	7: 139,915,534 (GRCm39)		probably benign	Het
Orc3	T	C	4: 34,572,542 (GRCm39)	T629A	probably benign	Het
Plce1	A	G	19: 38,715,346 (GRCm39)	T1298A	probably benign	Het
Ppan	T	A	9: 20,799,496 (GRCm39)		probably benign	Het
Rap1gds1	C	T	3: 138,663,228 (GRCm39)	G373R	probably damaging	Het
Scn2a	A	C	2: 65,582,367 (GRCm39)	I1572L	probably damaging	Het
Sec16a	A	T	2: 26,328,935 (GRCm39)	Y1027N	probably benign	Het
Serpinb3a	T	A	1: 106,979,359 (GRCm39)	T48S	probably damaging	Het
Slc30a8	A	G	15: 52,195,032 (GRCm39)	M264V	probably benign	Het
Slc44a3	A	T	3: 121,303,879 (GRCm39)	C286S	possibly damaging	Het
Slc8a2	T	C	7: 15,878,906 (GRCm39)	I464T	possibly damaging	Het
Smco1	T	C	16: 32,092,833 (GRCm39)	M168T	possibly damaging	Het
Spns2	A	T	11: 72,349,513 (GRCm39)	Y246*	probably null	Het
Ssbp2	T	C	13: 91,823,244 (GRCm39)	M213T	probably benign	Het
Stk40	G	T	4: 126,017,559 (GRCm39)	A29S	probably benign	Het
Thrap3	A	T	4: 126,067,296 (GRCm39)	F683I	probably damaging	Het
Tmc5	A	G	7: 118,269,889 (GRCm39)	T880A	possibly damaging	Het
Trim38	T	A	13: 23,969,946 (GRCm39)	N168K	possibly damaging	Het
Ube2d1	T	A	10: 71,091,702 (GRCm39)	Y134F	possibly damaging	Het
Vmn1r67	T	A	7: 10,181,475 (GRCm39)	Y246*	probably null	Het
Vmn2r18	T	C	5: 151,496,264 (GRCm39)	T485A	probably damaging	Het
Wrn	T	A	8: 33,738,974 (GRCm39)	I1285F	probably damaging	Het
Xrcc1	C	A	7: 24,246,757 (GRCm39)	H8Q	probably damaging	Het
Zkscan4	T	C	13: 21,668,413 (GRCm39)	V317A	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
R2570:Pdk1	UTSW	2	71,703,904 (GRCm39)	missense	possibly damaging	0.56
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
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'- CATTACTGCTCTTCAAAGAAGGC -3'
(R):5'- AGAATTCTACTGGGAAGACACTC -3'

Sequencing Primer
(F):5'- GCAAAATACCCTCTTTACACTTAAGG -3'
(R):5'- TTCTACTGGGAAGACACTCACCTTAC -3'

Posted On

2019-06-26