Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02749:Pdpr'

306222

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pdpr

Ensembl Gene

ENSMUSG00000033624

Gene Name

pyruvate dehydrogenase phosphatase regulatory subunit

Synonyms

4930402E16Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.283) question?

Stock #

IGL02749

Quality Score

Status

Chromosome

Chromosomal Location

111821262-111863706 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111844722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 373 (V373E)

Ref Sequence

ENSEMBL: ENSMUSP00000046639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039333] [ENSMUST00000144377]

AlphaFold

Q7TSQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000039333
AA Change: V373E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000046639
Gene: ENSMUSG00000033624
AA Change: V373E

Domain	Start	End	E-Value	Type
low complexity region	20	35	N/A	INTRINSIC
Pfam:FAD_binding_2	43	235	8.3e-8	PFAM
Pfam:DAO	43	401	1.5e-58	PFAM
Pfam:FAO_M	404	459	1.2e-19	PFAM
Pfam:GCV_T	461	738	4.7e-71	PFAM
Pfam:GCV_T_C	746	854	1.4e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144377
AA Change: V373E

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

SMART Domains

Protein: ENSMUSP00000121325
Gene: ENSMUSG00000033624
AA Change: V373E

Domain	Start	End	E-Value	Type
low complexity region	20	35	N/A	INTRINSIC
Pfam:FAD_binding_2	43	236	2.4e-8	PFAM
Pfam:DAO	43	401	3.3e-72	PFAM
Pfam:GCV_T	522	667	1.4e-29	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pyruvate dehydrogenase complex (PDC) catalyzes the oxidative decarboxylation of pyruvate and links glycolysis to the tricarboxylic acid cycle and fatty acid synthesis. The dephosphorylation and reactivation of PDC is catalyzed by pyruvate dehydrogenase phosphatase (PDP). The dimeric PDP has a catalytic subunit and a regulatory subunit. This gene encodes the FAD-containing regulatory subunit of PDP. The encoded protein acts to decrease the sensitivity of the PDP catalytic subunit to magnesium ions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230104M06Rik	T	C	12: 112,963,795 (GRCm39)	D61G	probably benign	Het
Albfm1	T	C	5: 90,719,624 (GRCm39)	V240A	possibly damaging	Het
Ascc2	G	A	11: 4,590,481 (GRCm39)		probably null	Het
Atrn	C	T	2: 130,812,064 (GRCm39)	Q670*	probably null	Het
Atrn	G	T	2: 130,789,654 (GRCm39)		probably benign	Het
Calr	A	C	8: 85,571,117 (GRCm39)	W236G	probably damaging	Het
Camk2g	T	A	14: 20,816,084 (GRCm39)		probably null	Het
Cd101	G	T	3: 100,927,715 (GRCm39)	T122K	probably damaging	Het
Cert1	T	A	13: 96,765,643 (GRCm39)	N469K	possibly damaging	Het
Cryl1	T	C	14: 57,541,181 (GRCm39)	T168A	probably benign	Het
Diaph3	A	G	14: 87,156,261 (GRCm39)	I684T	probably damaging	Het
Ednrb	A	T	14: 104,060,495 (GRCm39)	M266K	possibly damaging	Het
Eif4h	T	C	5: 134,668,146 (GRCm39)	D3G	probably damaging	Het
Eny2	C	T	15: 44,293,031 (GRCm39)	R28C	possibly damaging	Het
Epsti1	A	G	14: 78,177,363 (GRCm39)	E181G	probably damaging	Het
Ezh2	A	G	6: 47,510,698 (GRCm39)	F598S	probably damaging	Het
Fat3	G	T	9: 15,918,007 (GRCm39)	T1472K	possibly damaging	Het
Gabra4	T	A	5: 71,795,490 (GRCm39)	I262F	probably benign	Het
Gpat4	A	T	8: 23,670,886 (GRCm39)	Y109N	probably damaging	Het
Gpsm1	C	T	2: 26,229,687 (GRCm39)	T36I	probably damaging	Het
Hikeshi	C	T	7: 89,585,097 (GRCm39)	V36I	possibly damaging	Het
Hip1	T	C	5: 135,473,605 (GRCm39)	M238V	probably benign	Het
Hnrnpll	A	T	17: 80,369,420 (GRCm39)	M1K	probably null	Het
Irx2	G	A	13: 72,779,429 (GRCm39)	D238N	probably damaging	Het
Kcnip4	T	A	5: 48,567,127 (GRCm39)		probably benign	Het
Lair1	G	A	7: 4,031,900 (GRCm39)	T69I	possibly damaging	Het
Lamc1	A	G	1: 153,125,599 (GRCm39)	I558T	possibly damaging	Het
Map4k5	C	T	12: 69,862,580 (GRCm39)	E639K	probably benign	Het
Mc4r	A	G	18: 66,992,733 (GRCm39)	S127P	probably damaging	Het
Mmp23	A	G	4: 155,735,989 (GRCm39)	M221T	possibly damaging	Het
Mre11a	T	C	9: 14,737,887 (GRCm39)	S587P	possibly damaging	Het
Myh9	A	T	15: 77,692,186 (GRCm39)	Y124*	probably null	Het
Nek9	C	A	12: 85,352,281 (GRCm39)	A861S	probably benign	Het
Nup155	T	A	15: 8,163,560 (GRCm39)	Y576N	probably damaging	Het
Or5w10	C	T	2: 87,375,001 (GRCm39)	V296M	probably damaging	Het
Pcca	A	T	14: 122,771,800 (GRCm39)	T8S	probably benign	Het
Pcdh15	A	G	10: 74,466,900 (GRCm39)	D1573G	probably benign	Het
Pdzph1	A	T	17: 59,239,478 (GRCm39)	L950Q	possibly damaging	Het
Pira13	A	G	7: 3,825,624 (GRCm39)	I415T	probably damaging	Het
Prss35	A	C	9: 86,638,297 (GRCm39)	K356Q	probably damaging	Het
Psg22	A	T	7: 18,456,944 (GRCm39)	T237S	possibly damaging	Het
Rdh13	A	G	7: 4,430,703 (GRCm39)	Y252H	probably damaging	Het
Sema3d	T	C	5: 12,613,112 (GRCm39)		probably benign	Het
Slc35b2	G	A	17: 45,877,493 (GRCm39)	V207I	probably benign	Het
Sparcl1	T	G	5: 104,240,746 (GRCm39)	E226A	possibly damaging	Het
Srms	C	A	2: 180,851,302 (GRCm39)	A155S	possibly damaging	Het
Tas2r107	A	T	6: 131,636,917 (GRCm39)	I44N	probably damaging	Het
Tmem236	C	T	2: 14,224,132 (GRCm39)	T307M	probably damaging	Het
Ush2a	C	T	1: 188,679,155 (GRCm39)	P4788S	probably damaging	Het
Vmn1r170	A	T	7: 23,305,716 (GRCm39)	L39F	probably benign	Het
Vmn2r90	T	A	17: 17,947,122 (GRCm39)	*121R	probably null	Het

Other mutations in Pdpr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Pdpr	APN	8	111,828,704 (GRCm39)	missense	possibly damaging	0.69
IGL01116:Pdpr	APN	8	111,839,342 (GRCm39)	missense	possibly damaging	0.84
IGL01353:Pdpr	APN	8	111,847,910 (GRCm39)	splice site	probably null
IGL01681:Pdpr	APN	8	111,859,568 (GRCm39)	missense	probably damaging	1.00
IGL01785:Pdpr	APN	8	111,856,288 (GRCm39)	missense	probably damaging	0.98
IGL02115:Pdpr	APN	8	111,830,630 (GRCm39)	missense	probably damaging	1.00
IGL02292:Pdpr	APN	8	111,852,312 (GRCm39)	missense	probably damaging	1.00
IGL03296:Pdpr	APN	8	111,841,430 (GRCm39)	missense	probably damaging	1.00
R0730:Pdpr	UTSW	8	111,852,387 (GRCm39)	critical splice donor site	probably null
R1510:Pdpr	UTSW	8	111,851,107 (GRCm39)	splice site	probably benign
R1837:Pdpr	UTSW	8	111,861,366 (GRCm39)	missense	probably damaging	1.00
R1838:Pdpr	UTSW	8	111,861,366 (GRCm39)	missense	probably damaging	1.00
R2144:Pdpr	UTSW	8	111,844,668 (GRCm39)	missense	probably damaging	0.97
R4214:Pdpr	UTSW	8	111,856,212 (GRCm39)	intron	probably benign
R4812:Pdpr	UTSW	8	111,843,349 (GRCm39)	missense	probably benign	0.00
R4863:Pdpr	UTSW	8	111,828,583 (GRCm39)	missense	probably benign	0.01
R4998:Pdpr	UTSW	8	111,841,400 (GRCm39)	missense	probably damaging	1.00
R5579:Pdpr	UTSW	8	111,850,448 (GRCm39)	missense	probably damaging	1.00
R5665:Pdpr	UTSW	8	111,841,443 (GRCm39)	missense	possibly damaging	0.55
R5739:Pdpr	UTSW	8	111,861,252 (GRCm39)	missense	possibly damaging	0.78
R6675:Pdpr	UTSW	8	111,828,532 (GRCm39)	nonsense	probably null
R6785:Pdpr	UTSW	8	111,851,243 (GRCm39)	missense	probably benign	0.00
R6889:Pdpr	UTSW	8	111,851,245 (GRCm39)	critical splice donor site	probably null
R7397:Pdpr	UTSW	8	111,839,385 (GRCm39)	missense	possibly damaging	0.73
R7543:Pdpr	UTSW	8	111,859,520 (GRCm39)	missense	probably damaging	1.00
R7634:Pdpr	UTSW	8	111,852,317 (GRCm39)	missense	probably damaging	1.00
R8683:Pdpr	UTSW	8	111,850,492 (GRCm39)	missense	probably damaging	1.00
R8794:Pdpr	UTSW	8	111,852,240 (GRCm39)	missense	possibly damaging	0.53
R8833:Pdpr	UTSW	8	111,852,312 (GRCm39)	missense	probably damaging	1.00
R9283:Pdpr	UTSW	8	111,856,268 (GRCm39)	missense	possibly damaging	0.62
R9487:Pdpr	UTSW	8	111,852,925 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16