Mutagenetix > Incidental Mutation

Incidental Mutation 'R0063:Pdk2'

43795

Institutional Source

Beutler Lab

Gene Symbol

Pdk2

Ensembl Gene

ENSMUSG00000038967

Gene Name

pyruvate dehydrogenase kinase, isoenzyme 2

Synonyms

MMRRC Submission

038355-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0063 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94917084-94932180 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94923306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 106 (H106R)

Ref Sequence

ENSEMBL: ENSMUSP00000041447 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038431]

AlphaFold

Q9JK42

Predicted Effect

probably benign
Transcript: ENSMUST00000038431
AA Change: H106R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000041447
Gene: ENSMUSG00000038967
AA Change: H106R

Domain	Start	End	E-Value	Type
Pfam:BCDHK_Adom3	30	192	3.8e-52	PFAM
HATPase_c	240	364	9.32e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126730

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129262

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141712

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155857

Meta Mutation Damage Score

0.0635

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.8%

Validation Efficiency

97% (69/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the pyruvate dehydrogenase kinase family. The encoded protein phosphorylates pyruvate dehydrogenase, down-regulating the activity of the mitochondrial pyruvate dehydrogenase complex. Overexpression of this gene may play a role in both cancer and diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased muscle contractile force. [provided by MGI curators]

Allele List at MGI

none

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	C	T	16: 4,678,912 (GRCm39)	R245*	probably null	Het
4930563I02Rik	T	A	14: 60,333,477 (GRCm39)		probably benign	Het
Acss1	T	C	2: 150,469,212 (GRCm39)	T435A	probably damaging	Het
Aoc2	T	A	11: 101,216,897 (GRCm39)	S327T	probably damaging	Het
Arid5a	T	A	1: 36,357,645 (GRCm39)	Y252N	probably damaging	Het
AU040320	T	C	4: 126,733,465 (GRCm39)	Y662H	probably damaging	Het
B4gat1	T	A	19: 5,089,735 (GRCm39)	L244*	probably null	Het
Bcam	C	T	7: 19,500,773 (GRCm39)	V134I	probably benign	Het
Btbd16	A	T	7: 130,424,896 (GRCm39)	T426S	probably benign	Het
Btn1a1	C	T	13: 23,649,267 (GRCm39)		probably null	Het
Cap2	T	C	13: 46,791,508 (GRCm39)		probably benign	Het
Capn8	T	A	1: 182,429,677 (GRCm39)	D299E	probably damaging	Het
Cdipt	G	A	7: 126,578,772 (GRCm39)	V160I	probably benign	Het
Cep164	A	G	9: 45,679,916 (GRCm39)	S1267P	possibly damaging	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Col3a1	T	C	1: 45,369,701 (GRCm39)		probably benign	Het
Cyb5r3	T	C	15: 83,046,137 (GRCm39)	T60A	probably benign	Het
Dgkb	T	G	12: 38,654,112 (GRCm39)	S744A	probably benign	Het
Dock2	T	A	11: 34,647,111 (GRCm39)		probably null	Het
Ece1	C	T	4: 137,675,892 (GRCm39)	T422M	probably benign	Het
Ece2	A	G	16: 20,461,067 (GRCm39)	T442A	probably benign	Het
Elapor2	T	C	5: 9,490,709 (GRCm39)		probably benign	Het
Eml3	C	A	19: 8,915,842 (GRCm39)	A644D	probably damaging	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Foxp1	A	G	6: 98,921,684 (GRCm39)		probably benign	Het
Gm10801	G	T	2: 98,494,185 (GRCm39)	S109I	probably benign	Het
Il17rd	G	A	14: 26,804,690 (GRCm39)	C88Y	probably damaging	Het
Il17rd	C	A	14: 26,804,691 (GRCm39)	C88*	probably null	Het
Ino80c	A	G	18: 24,239,681 (GRCm39)	F160S	probably damaging	Het
Ints8	T	C	4: 11,252,857 (GRCm39)	N75S	probably damaging	Het
Irf2bp1	C	T	7: 18,739,772 (GRCm39)	R471C	possibly damaging	Het
Irs1	T	A	1: 82,266,580 (GRCm39)	E545D	probably damaging	Het
Lama3	T	C	18: 12,661,762 (GRCm39)		probably benign	Het
Mast4	C	A	13: 103,470,723 (GRCm39)		probably benign	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Nat8f2	A	T	6: 85,844,815 (GRCm39)	S182R	possibly damaging	Het
Nrcam	G	T	12: 44,596,811 (GRCm39)	V343F	possibly damaging	Het
Opn5	T	C	17: 42,907,517 (GRCm39)	S120G	probably damaging	Het
Pkhd1	G	A	1: 20,282,174 (GRCm39)	T2889I	probably benign	Het
Pkhd1l1	T	A	15: 44,392,633 (GRCm39)	L1656H	probably damaging	Het
Plxna2	A	T	1: 194,327,247 (GRCm39)	T394S	probably benign	Het
Pnpla8	T	A	12: 44,329,615 (GRCm39)	C56S	probably damaging	Het
Prdm8	G	T	5: 98,332,453 (GRCm39)	R118L	probably damaging	Het
Prkce	T	C	17: 86,789,539 (GRCm39)		probably benign	Het
Ptprk	T	A	10: 28,139,763 (GRCm39)	Y163N	probably damaging	Het
Rbbp8	T	A	18: 11,867,614 (GRCm39)		probably benign	Het
Rnh1	A	T	7: 140,744,109 (GRCm39)		probably null	Het
Rtn4	T	A	11: 29,655,527 (GRCm39)		probably benign	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Slc2a2	T	C	3: 28,771,589 (GRCm39)	M173T	probably damaging	Het
Slc2a8	T	A	2: 32,870,011 (GRCm39)		probably null	Het
Tdpoz1	A	T	3: 93,578,121 (GRCm39)	M221K	probably benign	Het
Tgm7	G	T	2: 120,924,577 (GRCm39)	H533Q	probably benign	Het
Timm29	C	A	9: 21,504,304 (GRCm39)	A17E	probably benign	Het
Tmem131	C	T	1: 36,858,209 (GRCm39)	V713I	probably benign	Het
Tmem89	A	G	9: 108,743,880 (GRCm39)	N60S	probably benign	Het
Tpx2	A	G	2: 152,722,043 (GRCm39)	T212A	probably damaging	Het
Trio	G	T	15: 27,881,523 (GRCm39)		probably benign	Het
Tulp2	T	C	7: 45,170,284 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,244,542 (GRCm39)		probably benign	Het
Vmn2r5	T	A	3: 64,411,221 (GRCm39)	E449V	probably benign	Het
Vwa8	A	G	14: 79,401,656 (GRCm39)		probably benign	Het
Xirp2	A	G	2: 67,339,427 (GRCm39)	D556G	probably damaging	Het
Xrn1	T	C	9: 95,851,588 (GRCm39)	L202P	probably damaging	Het
Zfp354a	A	T	11: 50,960,398 (GRCm39)	H203L	probably damaging	Het
Zfp53	A	C	17: 21,728,367 (GRCm39)	R133S	probably benign	Het
Zfp787	C	T	7: 6,135,322 (GRCm39)		probably null	Het

Other mutations in Pdk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00786:Pdk2	APN	11	94,922,761 (GRCm39)	missense	probably benign
IGL01489:Pdk2	APN	11	94,922,848 (GRCm39)	critical splice acceptor site	probably null
IGL01538:Pdk2	APN	11	94,918,111 (GRCm39)	missense	probably damaging	1.00
IGL02057:Pdk2	APN	11	94,919,324 (GRCm39)	missense	probably benign	0.00
IGL02439:Pdk2	APN	11	94,930,323 (GRCm39)	unclassified	probably benign
IGL02539:Pdk2	APN	11	94,923,321 (GRCm39)	missense	probably benign	0.05
IGL02551:Pdk2	APN	11	94,919,412 (GRCm39)	missense	probably benign	0.01
B5639:Pdk2	UTSW	11	94,923,324 (GRCm39)	missense	possibly damaging	0.57
R0063:Pdk2	UTSW	11	94,923,306 (GRCm39)	missense	probably benign
R0864:Pdk2	UTSW	11	94,918,759 (GRCm39)	missense	probably damaging	1.00
R1435:Pdk2	UTSW	11	94,922,721 (GRCm39)	missense	probably damaging	1.00
R1704:Pdk2	UTSW	11	94,919,376 (GRCm39)	missense	possibly damaging	0.75
R2114:Pdk2	UTSW	11	94,918,088 (GRCm39)	missense	probably damaging	1.00
R2566:Pdk2	UTSW	11	94,918,028 (GRCm39)	splice site	probably null
R3613:Pdk2	UTSW	11	94,918,072 (GRCm39)	missense	probably benign	0.39
R4259:Pdk2	UTSW	11	94,931,970 (GRCm39)	missense	probably benign	0.17
R5051:Pdk2	UTSW	11	94,919,598 (GRCm39)	missense	probably benign	0.29
R5055:Pdk2	UTSW	11	94,930,242 (GRCm39)	missense	probably benign	0.18
R5457:Pdk2	UTSW	11	94,919,408 (GRCm39)	missense	probably damaging	0.98
R5512:Pdk2	UTSW	11	94,930,292 (GRCm39)	missense	probably damaging	1.00
R5570:Pdk2	UTSW	11	94,920,826 (GRCm39)	missense	probably damaging	0.98
R5687:Pdk2	UTSW	11	94,919,851 (GRCm39)	unclassified	probably benign
R6328:Pdk2	UTSW	11	94,930,228 (GRCm39)	missense	possibly damaging	0.72
R6675:Pdk2	UTSW	11	94,919,568 (GRCm39)	missense	probably benign	0.00
R7658:Pdk2	UTSW	11	94,919,791 (GRCm39)	missense	probably damaging	1.00
R8436:Pdk2	UTSW	11	94,930,259 (GRCm39)	missense	probably damaging	1.00
R8809:Pdk2	UTSW	11	94,923,339 (GRCm39)	missense	probably damaging	1.00
R9260:Pdk2	UTSW	11	94,930,260 (GRCm39)	missense	probably damaging	1.00
Z1176:Pdk2	UTSW	11	94,918,744 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GTTTTCCCAGAAGTAGCCTGTCTCC -3'
(R):5'- TGAGCCCTCTGTTACTGTAGGACAC -3'

Sequencing Primer
(F):5'- CCCCCTTTCTTGGCACATC -3'
(R):5'- CCAAGGTTGCTGCTAATCG -3'

Posted On

2013-05-29