Mutagenetix > Incidental Mutation

Incidental Mutation 'R6889:Pdpr'

537114

Institutional Source

Beutler Lab

Gene Symbol

Pdpr

Ensembl Gene

ENSMUSG00000033624

Gene Name

pyruvate dehydrogenase phosphatase regulatory subunit

Synonyms

4930402E16Rik

MMRRC Submission

044983-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.416) question?

Stock #

R6889 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111094630-111137074 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 111124613 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000046639 (fasta)

Gene Model

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

AlphaFold

Q7TSQ8

Predicted Effect

probably null
Transcript: ENSMUST00000039333

SMART Domains

Protein: ENSMUSP00000046639
Gene: ENSMUSG00000033624

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

SMART Domains

Protein: ENSMUSP00000121325
Gene: ENSMUSG00000033624

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

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,943,053	D103E	probably benign	Het
Abcc3	A	T	11: 94,375,555	S70T	possibly damaging	Het
Atp6v0a1	A	G	11: 101,029,183	Y214C	possibly damaging	Het
Azi2	A	G	9: 118,049,895		probably null	Het
BC067074	C	A	13: 113,318,378	S319R	probably damaging	Het
Cacnb2	T	A	2: 14,986,015	V636E	possibly damaging	Het
Cd8a	A	C	6: 71,374,562	T169P	probably damaging	Het
Cfap44	G	A	16: 44,404,132	V68I	probably benign	Het
Eea1	G	T	10: 96,037,478	C1134F	probably benign	Het
Ehmt2	T	G	17: 34,912,772	F1192V	probably damaging	Het
Emc1	T	C	4: 139,365,350	F531L	probably damaging	Het
Eme1	G	A	11: 94,650,477	T173I	probably benign	Het
Gli2	A	T	1: 118,844,416	C520S	probably damaging	Het
Gm43302	T	C	5: 105,280,138	K186E	probably benign	Het
Gpr108	A	T	17: 57,236,990	N405K	probably damaging	Het
Hmgcl	C	A	4: 135,955,642	T135N	probably benign	Het
Hydin	G	A	8: 110,532,856	D2487N	possibly damaging	Het
Igfl3	G	T	7: 18,179,800	R25L	probably benign	Het
Igsf10	A	C	3: 59,331,933	S276A	probably benign	Het
Kctd1	A	G	18: 14,973,988	S211P	probably damaging	Het
Kctd7	A	T	5: 130,152,501	Q255L	probably benign	Het
Lrig1	A	G	6: 94,625,063	Y270H	probably benign	Het
Muc5ac	C	T	7: 141,809,744		probably benign	Het
Myh15	A	G	16: 49,153,111	N1248S	possibly damaging	Het
Nod1	A	G	6: 54,944,109	F408S	probably benign	Het
Nrp1	T	C	8: 128,493,057	F652S	probably damaging	Het
Olfr1338	G	A	4: 118,754,307	T79I	probably damaging	Het
Olfr487	A	T	7: 108,211,918	F204I	probably benign	Het
Olfr574	A	T	7: 102,948,768	H91L	possibly damaging	Het
Olfr821	T	C	10: 130,034,532	M302T	probably benign	Het
Opa1	G	T	16: 29,620,868	R792L	probably benign	Het
Pcdha6	G	T	18: 36,968,343	L196F	probably damaging	Het
Pdia2	A	T	17: 26,196,970	Y347*	probably null	Het
Pigt	T	A	2: 164,507,331	L518Q	probably damaging	Het
Ppfibp2	A	C	7: 107,737,981	D591A	possibly damaging	Het
Prrg2	G	A	7: 45,059,989	T97M	possibly damaging	Het
Qars	A	G	9: 108,513,183	T428A	probably damaging	Het
Rai1	T	C	11: 60,185,715	F202L	probably damaging	Het
Rars	A	T	11: 35,808,486	M660K	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,579,925		probably benign	Het
Slc16a6	A	C	11: 109,455,040	F382V	probably damaging	Het
Slc30a7	T	C	3: 115,954,153	T330A	probably damaging	Het
Smc1b	A	T	15: 85,067,759	L1157Q	probably damaging	Het
Snx4	G	T	16: 33,251,470	A4S	possibly damaging	Het
Sv2b	A	C	7: 75,125,767		probably null	Het
Syt9	A	T	7: 107,425,286	I129L	probably damaging	Het
Ttbk2	T	C	2: 120,773,353	E198G	probably damaging	Het
Ubr3	A	T	2: 69,944,300	D488V	possibly damaging	Het
Ush2a	T	A	1: 188,797,871	C3286S	probably damaging	Het
Vill	A	G	9: 119,065,882	D56G	possibly damaging	Het
Vmn1r41	A	T	6: 89,747,370	I298F	probably damaging	Het
Vmn2r2	A	T	3: 64,117,267	V631D	probably damaging	Het
Vmn2r32	A	G	7: 7,472,574	S437P	possibly damaging	Het
Vmn2r53	A	G	7: 12,601,142	V197A	probably benign	Het
Wasf1	A	T	10: 40,920,369	I32F	probably damaging	Het
Wasf2	G	T	4: 133,194,730	A387S	unknown	Het
Wdr92	G	A	11: 17,222,309	V133M	probably damaging	Het
Zbtb14	G	A	17: 69,387,679	C124Y	probably damaging	Het
Zfp462	G	T	4: 55,007,671	A37S	probably damaging	Het
Zfp532	A	G	18: 65,686,990	E882G	possibly damaging	Het

Other mutations in Pdpr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Pdpr	APN	8	111102072	missense	possibly damaging	0.69
IGL01116:Pdpr	APN	8	111112710	missense	possibly damaging	0.84
IGL01353:Pdpr	APN	8	111121278	splice site	probably null
IGL01681:Pdpr	APN	8	111132936	missense	probably damaging	1.00
IGL01785:Pdpr	APN	8	111129656	missense	probably damaging	0.98
IGL02115:Pdpr	APN	8	111103998	missense	probably damaging	1.00
IGL02292:Pdpr	APN	8	111125680	missense	probably damaging	1.00
IGL02749:Pdpr	APN	8	111118090	missense	probably benign	0.01
IGL03296:Pdpr	APN	8	111114798	missense	probably damaging	1.00
R0730:Pdpr	UTSW	8	111125755	critical splice donor site	probably null
R1510:Pdpr	UTSW	8	111124475	splice site	probably benign
R1837:Pdpr	UTSW	8	111134734	missense	probably damaging	1.00
R1838:Pdpr	UTSW	8	111134734	missense	probably damaging	1.00
R2144:Pdpr	UTSW	8	111118036	missense	probably damaging	0.97
R4214:Pdpr	UTSW	8	111129580	intron	probably benign
R4812:Pdpr	UTSW	8	111116717	missense	probably benign	0.00
R4863:Pdpr	UTSW	8	111101951	missense	probably benign	0.01
R4998:Pdpr	UTSW	8	111114768	missense	probably damaging	1.00
R5579:Pdpr	UTSW	8	111123816	missense	probably damaging	1.00
R5665:Pdpr	UTSW	8	111114811	missense	possibly damaging	0.55
R5739:Pdpr	UTSW	8	111134620	missense	possibly damaging	0.78
R6675:Pdpr	UTSW	8	111101900	nonsense	probably null
R6785:Pdpr	UTSW	8	111124611	missense	probably benign	0.00
R7397:Pdpr	UTSW	8	111112753	missense	possibly damaging	0.73
R7543:Pdpr	UTSW	8	111132888	missense	probably damaging	1.00
R7634:Pdpr	UTSW	8	111125685	missense	probably damaging	1.00
R8683:Pdpr	UTSW	8	111123860	missense	probably damaging	1.00
R8794:Pdpr	UTSW	8	111125608	missense	possibly damaging	0.53
R8833:Pdpr	UTSW	8	111125680	missense	probably damaging	1.00
R9283:Pdpr	UTSW	8	111129636	missense	possibly damaging	0.62
R9487:Pdpr	UTSW	8	111126293	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAAAACTCTTTACTTTCCACCGTGTT -3'
(R):5'- CTTCCAGAATCAGTTTTGAGGTAAT -3'

Sequencing Primer
(F):5'- TTTTTCTGCTTCATAGACCTTCTTG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'

Posted On

2018-10-18