Mutagenetix > Incidental Mutation

Incidental Mutation 'R5687:Pdk2'

443443

Institutional Source

Beutler Lab

Gene Symbol

Pdk2

Ensembl Gene

ENSMUSG00000038967

Gene Name

pyruvate dehydrogenase kinase, isoenzyme 2

Synonyms

MMRRC Submission

043320-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5687 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94917084-94932180 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 94919851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000062231 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038431] [ENSMUST00000055947]

AlphaFold

Q9JK42

Predicted Effect

probably benign
Transcript: ENSMUST00000038431

SMART Domains

Protein: ENSMUSP00000041447
Gene: ENSMUSG00000038967

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

probably benign
Transcript: ENSMUST00000055947

SMART Domains

Protein: ENSMUSP00000062231
Gene: ENSMUSG00000047181

Domain	Start	End	E-Value	Type
low complexity region	42	57	N/A	INTRINSIC
low complexity region	138	153	N/A	INTRINSIC
low complexity region	244	260	N/A	INTRINSIC
low complexity region	276	289	N/A	INTRINSIC
SAM	323	389	7.96e-12	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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (72/73)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	T	A	15: 94,223,852 (GRCm39)	D1292V	probably benign	Het
Adcy2	A	T	13: 68,768,938 (GRCm39)	C1063*	probably null	Het
Adcy2	A	T	13: 68,790,688 (GRCm39)	V892D	probably damaging	Het
Agtpbp1	T	C	13: 59,648,329 (GRCm39)	D497G	probably benign	Het
Anks1b	A	C	10: 90,750,573 (GRCm39)	I195L	probably benign	Het
Asmt	G	T	X: 169,111,749 (GRCm39)	S377I	unknown	Het
C1s1	T	A	6: 124,517,909 (GRCm39)	T24S	probably benign	Het
Ccdc85a	A	T	11: 28,342,854 (GRCm39)		probably benign	Het
Ccndbp1	T	C	2: 120,845,183 (GRCm39)		probably benign	Het
Cct8	T	C	16: 87,285,709 (GRCm39)	I250V	probably benign	Het
Cmya5	T	C	13: 93,234,684 (GRCm39)	T135A	possibly damaging	Het
Col11a1	T	C	3: 114,010,752 (GRCm39)		probably benign	Het
Crybg3	A	G	16: 59,379,529 (GRCm39)	M575T	probably benign	Het
Dmp1	C	T	5: 104,354,952 (GRCm39)		probably benign	Het
Emc1	G	T	4: 139,102,691 (GRCm39)	R950L	probably damaging	Het
Enpep	T	C	3: 129,092,743 (GRCm39)		probably null	Het
Eya1	G	A	1: 14,253,476 (GRCm39)	T500I	probably damaging	Het
Fam169a	T	C	13: 97,230,126 (GRCm39)	F54L	probably damaging	Het
Fbxo8	A	G	8: 57,044,552 (GRCm39)	K285R	probably damaging	Het
Galnt1	A	T	18: 24,405,807 (GRCm39)	E416D	probably benign	Het
Gcc1	T	A	6: 28,419,232 (GRCm39)		probably null	Het
Gm10800	T	A	2: 98,496,965 (GRCm39)	Y196F	probably benign	Het
Gmpr	T	A	13: 45,692,496 (GRCm39)		probably null	Het
Jrkl	C	T	9: 13,244,387 (GRCm39)	E425K	probably benign	Het
Kl	T	G	5: 150,911,931 (GRCm39)	I560S	possibly damaging	Het
Kyat3	C	A	3: 142,440,343 (GRCm39)	R356S	probably null	Het
Lrig2	C	T	3: 104,371,388 (GRCm39)		probably null	Het
Lrrc47	A	G	4: 154,100,140 (GRCm39)	T239A	probably benign	Het
Map4k2	T	C	19: 6,395,672 (GRCm39)		probably benign	Het
Mon2	A	G	10: 122,844,144 (GRCm39)	S1469P	probably damaging	Het
Mthfd1l	G	A	10: 3,940,002 (GRCm39)		probably null	Het
Mvk	G	T	5: 114,588,826 (GRCm39)	G144V	probably damaging	Het
Nasp	T	A	4: 116,463,002 (GRCm39)		probably benign	Het
Ndst4	A	C	3: 125,232,258 (GRCm39)	N276H	possibly damaging	Het
Nsmf	C	T	2: 24,946,079 (GRCm39)	P189S	probably damaging	Het
Nt5m	T	G	11: 59,743,649 (GRCm39)	D92E	probably benign	Het
Or10g6	T	G	9: 39,933,731 (GRCm39)	L14R	probably damaging	Het
Or4k39	T	C	2: 111,239,033 (GRCm39)		noncoding transcript	Het
Or4p23	A	T	2: 88,577,094 (GRCm39)	I46N	probably damaging	Het
Pan3	T	A	5: 147,391,982 (GRCm39)	I119N	probably damaging	Het
Pard6b	A	T	2: 167,940,546 (GRCm39)	S178C	probably damaging	Het
Parl	A	G	16: 20,106,728 (GRCm39)		probably benign	Het
Prag1	A	G	8: 36,613,967 (GRCm39)	E1173G	probably benign	Het
Prph2	T	A	17: 47,234,391 (GRCm39)	L320Q	probably damaging	Het
Psmd3	T	C	11: 98,584,495 (GRCm39)	I200T	probably damaging	Het
Rhbdd3	T	A	11: 5,055,707 (GRCm39)	S324T	probably damaging	Het
Rps6-ps2	A	T	8: 89,533,112 (GRCm39)		noncoding transcript	Het
Rps8	G	C	4: 117,012,352 (GRCm39)		probably benign	Het
Samd4	A	G	14: 47,254,022 (GRCm39)	N61S	probably benign	Het
Sfrp2	G	A	3: 83,674,146 (GRCm39)	A100T	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc6a13	A	G	6: 121,279,700 (GRCm39)	T25A	probably benign	Het
Sntg1	C	A	1: 8,533,667 (GRCm39)	R329L	possibly damaging	Het
Sorbs2	T	C	8: 46,228,669 (GRCm39)	F285L	probably damaging	Het
Speg	T	C	1: 75,395,773 (GRCm39)		probably null	Het
Srgap1	T	C	10: 121,661,541 (GRCm39)	Y533C	probably damaging	Het
Supt5	C	A	7: 28,017,188 (GRCm39)	S668I	probably benign	Het
Taf6l	T	G	19: 8,750,676 (GRCm39)	I133L	probably benign	Het
Thrap3	G	A	4: 126,074,279 (GRCm39)		probably benign	Het
Tmem115	A	G	9: 107,412,054 (GRCm39)	N126S	probably benign	Het
Trgc1	A	T	13: 19,400,729 (GRCm39)	I153F	unknown	Het
Tspoap1	T	A	11: 87,667,952 (GRCm39)	I1192N	probably damaging	Het
Vcan	T	C	13: 89,826,253 (GRCm39)	I3184V	probably damaging	Het
Yeats4	G	A	10: 117,051,585 (GRCm39)	T224M	probably benign	Het
Zc3h13	A	T	14: 75,569,400 (GRCm39)	R1416*	probably null	Het
Zmynd12	T	A	4: 119,299,098 (GRCm39)	Y193N	probably damaging	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
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
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'- CCAAAGGTACCTGCTGAAGCTG -3'
(R):5'- ACCAGCATCTTCATCGAGAGG -3'

Sequencing Primer
(F):5'- CTGAAGCTGGGGGCCAAG -3'
(R):5'- AGCATCTTCATCGAGAGGTGCTTC -3'

Posted On

2016-11-09