Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01538:Pdk2'

90050

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pdk2

Ensembl Gene

ENSMUSG00000038967

Gene Name

pyruvate dehydrogenase kinase, isoenzyme 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01538

Quality Score

Status

Chromosome

Chromosomal Location

94917084-94932180 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94918111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 374 (Y374C)

Ref Sequence

ENSEMBL: ENSMUSP00000041447 (fasta)

Gene Model

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

AlphaFold

Q9JK42

Predicted Effect

probably damaging
Transcript: ENSMUST00000038431
AA Change: Y374C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041447
Gene: ENSMUSG00000038967
AA Change: Y374C

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: ENSMUST00000141712

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155857

Coding Region Coverage

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	A	G	10: 70,708,032 (GRCm39)		noncoding transcript	Het
Abca3	G	T	17: 24,595,447 (GRCm39)	C328F	possibly damaging	Het
Aldh5a1	T	C	13: 25,102,495 (GRCm39)	N323D	possibly damaging	Het
Atp5f1c	T	C	2: 10,073,477 (GRCm39)	Y32C	probably damaging	Het
Capn3	T	G	2: 120,332,667 (GRCm39)		probably null	Het
Ccdc113	C	A	8: 96,277,866 (GRCm39)	D275E	probably benign	Het
Ccdc40	T	A	11: 119,133,545 (GRCm39)	F562I	possibly damaging	Het
Ccn6	A	G	10: 39,034,306 (GRCm39)	Y99H	probably damaging	Het
Cd96	T	C	16: 45,929,490 (GRCm39)	T152A	possibly damaging	Het
Cdh20	T	A	1: 109,988,870 (GRCm39)	D257E	probably damaging	Het
Cilp2	T	C	8: 70,333,854 (GRCm39)	D1048G	probably benign	Het
Clrn2	T	G	5: 45,617,408 (GRCm39)	L93R	probably damaging	Het
Crat	C	A	2: 30,299,978 (GRCm39)	G134V	probably damaging	Het
Dis3	A	T	14: 99,335,181 (GRCm39)	N140K	probably benign	Het
Dmxl2	T	A	9: 54,352,660 (GRCm39)		probably benign	Het
Dus1l	T	A	11: 120,683,905 (GRCm39)	Q181L	probably damaging	Het
Ece1	A	G	4: 137,675,855 (GRCm39)	T410A	probably benign	Het
Gcc1	T	A	6: 28,421,047 (GRCm39)	H90L	probably damaging	Het
Gpr152	T	A	19: 4,192,951 (GRCm39)	V164E	probably damaging	Het
Grik3	A	C	4: 125,587,829 (GRCm39)	I650L	possibly damaging	Het
Gvin3	T	C	7: 106,201,744 (GRCm39)	D500G	probably damaging	Het
Gzmm	A	T	10: 79,530,896 (GRCm39)	T233S	probably benign	Het
H2-Q4	T	A	17: 35,602,288 (GRCm39)	V341D	probably benign	Het
Igsf21	A	G	4: 139,755,029 (GRCm39)		probably benign	Het
Kmt2d	T	C	15: 98,758,538 (GRCm39)		probably benign	Het
Kntc1	T	G	5: 123,919,721 (GRCm39)	V864G	probably damaging	Het
Lnx1	T	C	5: 74,780,816 (GRCm39)	E235G	possibly damaging	Het
Man2b1	G	T	8: 85,824,059 (GRCm39)	K985N	probably benign	Het
Map4k1	C	A	7: 28,701,044 (GRCm39)	P670Q	probably damaging	Het
Mapk8ip1	C	A	2: 92,219,319 (GRCm39)		probably null	Het
Mettl16	T	A	11: 74,683,093 (GRCm39)	Y178*	probably null	Het
Mrpl11	T	A	19: 5,013,449 (GRCm39)		probably null	Het
Nup85	T	C	11: 115,460,540 (GRCm39)	S140P	possibly damaging	Het
Or14c44	T	C	7: 86,062,167 (GRCm39)	L199P	possibly damaging	Het
Or1j20	T	C	2: 36,760,532 (GRCm39)		probably benign	Het
Or4k51	T	A	2: 111,585,350 (GRCm39)	V252E	probably damaging	Het
Or5w16	T	C	2: 87,576,942 (GRCm39)	V134A	probably benign	Het
Pcdhb2	T	A	18: 37,428,375 (GRCm39)	L116*	probably null	Het
Pdcd7	C	A	9: 65,253,985 (GRCm39)	R188S	probably damaging	Het
Ppp1r12a	G	T	10: 108,069,882 (GRCm39)	D224Y	probably damaging	Het
Ppp2r2d	T	A	7: 138,478,364 (GRCm39)	Y169N	probably damaging	Het
Prcp	A	C	7: 92,559,421 (GRCm39)	T162P	probably benign	Het
Prkd1	A	G	12: 50,388,925 (GRCm39)	S873P	probably benign	Het
Ptpn2	T	C	18: 67,814,623 (GRCm39)	T129A	probably benign	Het
Rtkn	G	A	6: 83,123,042 (GRCm39)	R68H	probably damaging	Het
Sall4	C	T	2: 168,597,776 (GRCm39)	D355N	probably damaging	Het
Scn7a	A	G	2: 66,534,196 (GRCm39)	V493A	probably benign	Het
Sema4b	G	A	7: 79,865,444 (GRCm39)	A140T	probably damaging	Het
Shisa6	C	A	11: 66,108,654 (GRCm39)	G408C	possibly damaging	Het
Slc7a9	G	T	7: 35,153,589 (GRCm39)	V197F	probably damaging	Het
Spata2	A	T	2: 167,326,071 (GRCm39)	D249E	probably damaging	Het
Stk36	T	A	1: 74,672,797 (GRCm39)	V1013E	probably benign	Het
Tcp10a	T	C	17: 7,610,899 (GRCm39)	V336A	probably damaging	Het
Tfb2m	A	T	1: 179,365,409 (GRCm39)	V185D	possibly damaging	Het
Tgm7	T	A	2: 120,937,396 (GRCm39)	Y76F	probably benign	Het
Tph1	T	C	7: 46,303,177 (GRCm39)	Y267C	probably damaging	Het
Trgv1	G	A	13: 19,520,740 (GRCm39)		probably benign	Het
Ube2d1	A	G	10: 71,091,656 (GRCm39)		probably benign	Het
Vmn2r12	C	A	5: 109,239,716 (GRCm39)	R282S	probably damaging	Het
Vps4a	A	G	8: 107,763,556 (GRCm39)	D72G	probably benign	Het
Wipf2	T	A	11: 98,781,629 (GRCm39)	V56D	possibly damaging	Het
Zfp750	C	A	11: 121,402,991 (GRCm39)	V586L	probably benign	Het
Zfp831	A	G	2: 174,486,399 (GRCm39)	E358G	possibly 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
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
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

Posted On

2013-12-03