Mutagenetix > Incidental Mutation

Incidental Mutation 'R6785:Pdpr'

531630

Institutional Source

Beutler Lab

Gene Symbol

Pdpr

Ensembl Gene

ENSMUSG00000033624

Gene Name

pyruvate dehydrogenase phosphatase regulatory subunit

Synonyms

4930402E16Rik

MMRRC Submission

044899-MU

Accession Numbers

Essential gene?

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

Stock #

R6785 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111821262-111863706 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 111851243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 534 (T534N)

Ref Sequence

ENSEMBL: ENSMUSP00000121325 (fasta)

Gene Model

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

AlphaFold

Q7TSQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000039333
AA Change: T534N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000046639
Gene: ENSMUSG00000033624
AA Change: T534N

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: T534N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000121325
Gene: ENSMUSG00000033624
AA Change: T534N

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (59/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	A	G	2: 22,843,479 (GRCm39)	V316A	probably benign	Het
Acad12	T	C	5: 121,747,908 (GRCm39)	Y170C	probably damaging	Het
Acss2	T	C	2: 155,402,605 (GRCm39)	V587A	probably damaging	Het
Adamtsl3	A	G	7: 82,171,212 (GRCm39)	I422V	probably damaging	Het
Aldh18a1	A	G	19: 40,556,788 (GRCm39)	L375P	probably damaging	Het
B020011L13Rik	A	G	1: 117,728,799 (GRCm39)	D102G	possibly damaging	Het
Cfap74	T	A	4: 155,538,481 (GRCm39)		probably benign	Het
Coa4	G	A	7: 100,188,460 (GRCm39)	V58M	probably damaging	Het
Crybg1	T	C	10: 43,875,167 (GRCm39)	N647S	probably benign	Het
Dync1h1	G	A	12: 110,596,113 (GRCm39)	G1547S	probably damaging	Het
Espnl	A	G	1: 91,249,943 (GRCm39)	D30G	probably benign	Het
Fasl	T	A	1: 161,609,404 (GRCm39)	Y194F	probably benign	Het
Fbxw8	T	C	5: 118,230,754 (GRCm39)	E349G	probably damaging	Het
Gen1	A	G	12: 11,312,531 (GRCm39)	V13A	possibly damaging	Het
Gm4559	A	G	7: 141,827,845 (GRCm39)	C86R	unknown	Het
H2-M9	T	C	17: 36,953,125 (GRCm39)	N61D	probably damaging	Het
H6pd	C	T	4: 150,067,247 (GRCm39)	E380K	possibly damaging	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Hnrnpd	C	A	5: 100,126,283 (GRCm39)	K67N	probably benign	Het
Hspg2	T	C	4: 137,235,709 (GRCm39)	S170P	probably damaging	Het
Igsf10	G	T	3: 59,226,665 (GRCm39)	P2336Q	probably damaging	Het
Itih3	C	T	14: 30,634,572 (GRCm39)		probably null	Het
Katnb1	T	C	8: 95,822,270 (GRCm39)	Y298H	probably benign	Het
Kif21a	A	T	15: 90,819,933 (GRCm39)	N1610K	probably damaging	Het
Lce1l	A	T	3: 92,757,500 (GRCm39)	C119*	probably null	Het
Lcn2	C	T	2: 32,277,039 (GRCm39)		probably null	Het
Lmf2	A	T	15: 89,236,236 (GRCm39)	S588T	probably benign	Het
Mboat7	A	G	7: 3,688,835 (GRCm39)	L231P	probably benign	Het
Mier2	T	C	10: 79,380,547 (GRCm39)	R288G	probably damaging	Het
Mybbp1a	T	C	11: 72,338,392 (GRCm39)	V694A	probably benign	Het
Ndnf	C	A	6: 65,680,047 (GRCm39)	L109I	probably benign	Het
Nfkb1	C	A	3: 135,321,064 (GRCm39)	E230D	probably benign	Het
Nostrin	A	G	2: 69,014,271 (GRCm39)	K409R	probably benign	Het
Or1j10	A	G	2: 36,266,854 (GRCm39)	Q22R	probably benign	Het
Or1j10	C	A	2: 36,266,963 (GRCm39)	Y58*	probably null	Het
Or8k35	T	A	2: 86,424,765 (GRCm39)	M136L	probably damaging	Het
Plekhf1	G	A	7: 37,921,488 (GRCm39)	Q27*	probably null	Het
Ppp6c	A	T	2: 39,087,593 (GRCm39)	H204Q	probably benign	Het
Prrc2c	T	C	1: 162,536,670 (GRCm39)		probably benign	Het
Prrg2	A	G	7: 44,709,649 (GRCm39)	F83L	probably damaging	Het
Rab11fip3	T	G	17: 26,210,692 (GRCm39)	D938A	probably damaging	Het
Rai1	A	G	11: 60,079,620 (GRCm39)	N1228S	probably benign	Het
Ryr1	G	T	7: 28,764,299 (GRCm39)	T3060K	probably benign	Het
Scube2	A	G	7: 109,409,824 (GRCm39)	I557T	probably benign	Het
Setdb1	C	A	3: 95,233,712 (GRCm39)	R1066L	probably benign	Het
Shoc1	T	C	4: 59,049,066 (GRCm39)	M1100V	probably benign	Het
Slc35f3	T	C	8: 127,121,198 (GRCm39)	V353A	probably benign	Het
Slfn3	A	T	11: 83,105,427 (GRCm39)	T475S	possibly damaging	Het
Snrnp200	T	A	2: 127,071,085 (GRCm39)	M1122K	possibly damaging	Het
Tead4	T	A	6: 128,219,444 (GRCm39)	K223*	probably null	Het
Tex2	A	C	11: 106,424,776 (GRCm39)	I334R	probably damaging	Het
Tfdp1	C	T	8: 13,420,485 (GRCm39)	R105W	probably damaging	Het
Tfdp1	G	T	8: 13,427,233 (GRCm39)	V393F	possibly damaging	Het
Thsd7b	T	C	1: 129,358,644 (GRCm39)	L26P	probably damaging	Het
Trim80	T	C	11: 115,332,027 (GRCm39)	I73T	probably damaging	Het
Tssk4	T	A	14: 55,887,932 (GRCm39)	Y43N	probably damaging	Het
Ttn	T	C	2: 76,541,839 (GRCm39)	T25389A	probably damaging	Het
Ttn	A	T	2: 76,578,288 (GRCm39)	F24202I	probably damaging	Het
Vmn1r177	A	G	7: 23,565,562 (GRCm39)	S105P	probably damaging	Het
Vmn2r40	T	A	7: 8,911,203 (GRCm39)	T697S	probably benign	Het
Zfp267	T	A	3: 36,219,601 (GRCm39)	C541*	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
IGL02749:Pdpr	APN	8	111,844,722 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- TCAAAACTCTTTACTTTCCACCGTG -3'
(R):5'- TCTTCCAGAATCAGTTTTGAGGT -3'

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

Posted On

2018-08-29