Mutagenetix > Incidental Mutation

Incidental Mutation 'R8833:Pdpr'

673983

Institutional Source

Beutler Lab

Gene Symbol

Pdpr

Ensembl Gene

ENSMUSG00000033624

Gene Name

pyruvate dehydrogenase phosphatase regulatory subunit

Synonyms

4930402E16Rik

MMRRC Submission

068661-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.304) question?

Stock #

R8833 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111821262-111863706 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 111852312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 560 (V560I)

Ref Sequence

ENSEMBL: ENSMUSP00000046639 (fasta)

Gene Model

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

AlphaFold

Q7TSQ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000039333
AA Change: V560I

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

SMART Domains

Protein: ENSMUSP00000046639
Gene: ENSMUSG00000033624
AA Change: V560I

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

noncoding transcript
Transcript: ENSMUST00000127301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143719

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144377
AA Change: V560I

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121325
Gene: ENSMUSG00000033624
AA Change: V560I

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: 99.5%
20x: 98.5%

Validation Efficiency

100% (53/53)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c6	T	A	13: 4,496,377 (GRCm39)	D132E	possibly damaging	Het
Armh4	C	T	14: 50,011,318 (GRCm39)	V130I	probably benign	Het
Atp10b	A	G	11: 43,112,986 (GRCm39)	E844G	probably damaging	Het
Bbx	T	A	16: 50,045,629 (GRCm39)	M311L	probably benign	Het
Bzw2	A	T	12: 36,169,069 (GRCm39)	M153K	probably benign	Het
C1qtnf6	G	T	15: 78,409,574 (GRCm39)	T91K	probably benign	Het
Cdh4	A	G	2: 179,535,828 (GRCm39)	D793G	possibly damaging	Het
Ces4a	A	G	8: 105,858,614 (GRCm39)	I11V	probably benign	Het
Cpne9	T	C	6: 113,281,473 (GRCm39)	L518P	probably damaging	Het
Dip2c	T	A	13: 9,625,519 (GRCm39)		probably null	Het
Fam135b	T	C	15: 71,334,783 (GRCm39)	N804D	probably benign	Het
Frem3	G	A	8: 81,339,401 (GRCm39)	D565N	probably benign	Het
Fscb	T	A	12: 64,519,997 (GRCm39)	T490S	unknown	Het
Fuca1	A	G	4: 135,648,206 (GRCm39)	D31G	probably damaging	Het
Gbp8	G	T	5: 105,166,668 (GRCm39)	N220K	possibly damaging	Het
Gfra2	T	C	14: 71,163,337 (GRCm39)	F207L	probably damaging	Het
Grap2	A	G	15: 80,522,684 (GRCm39)	N70S	probably benign	Het
Ifna13	C	A	4: 88,562,157 (GRCm39)	E156*	probably null	Het
Jmjd1c	G	A	10: 67,054,162 (GRCm39)	R22H	probably benign	Het
Macf1	A	G	4: 123,365,134 (GRCm39)	V3209A	probably benign	Het
Muc5b	A	G	7: 141,412,105 (GRCm39)	T1684A	unknown	Het
Naip5	T	A	13: 100,359,442 (GRCm39)	E598V	probably damaging	Het
Niban1	T	A	1: 151,520,681 (GRCm39)	V125E	probably damaging	Het
Notch1	G	A	2: 26,371,615 (GRCm39)	T278I	probably damaging	Het
Or4d10c	A	G	19: 12,065,643 (GRCm39)	V171A	possibly damaging	Het
Or4k5	A	T	14: 50,385,823 (GRCm39)	C169*	probably null	Het
Or52z13	T	G	7: 103,247,444 (GRCm39)	F307C	possibly damaging	Het
Or5k14	A	T	16: 58,692,959 (GRCm39)	Y185N	probably damaging	Het
Orm1	A	T	4: 63,262,938 (GRCm39)	E35V	probably damaging	Het
Pak1	T	A	7: 97,503,839 (GRCm39)	I58N	possibly damaging	Het
Pard3b	A	G	1: 62,384,158 (GRCm39)	E841G	probably benign	Het
Pcdhb9	G	T	18: 37,534,468 (GRCm39)	R154I	probably benign	Het
Pkdcc	T	C	17: 83,531,355 (GRCm39)	F455L	probably damaging	Het
Potefam3c	A	T	8: 69,881,982 (GRCm39)	D331E	probably benign	Het
Pus7l	A	T	15: 94,438,143 (GRCm39)	F234Y	probably damaging	Het
Rab3gap2	T	A	1: 184,990,722 (GRCm39)	L632Q	probably damaging	Het
Rarb	T	A	14: 16,819,015 (GRCm38)		probably benign	Het
Ro60	T	A	1: 143,641,517 (GRCm39)	K315*	probably null	Het
Rom1	A	T	19: 8,905,471 (GRCm39)	H236Q	possibly damaging	Het
Secisbp2	T	C	13: 51,819,352 (GRCm39)	S311P	probably benign	Het
Slc26a1	T	C	5: 108,820,182 (GRCm39)	D355G	probably benign	Het
Slc28a3	C	T	13: 58,707,077 (GRCm39)	A574T	probably damaging	Het
Sox11	A	G	12: 27,392,313 (GRCm39)	V32A	possibly damaging	Het
Spata17	T	C	1: 186,915,436 (GRCm39)	Y107C	probably damaging	Het
Speer1a	C	A	5: 11,394,205 (GRCm39)	Y104*	probably null	Het
Stxbp5l	T	C	16: 37,024,814 (GRCm39)	T595A	probably benign	Het
Syt11	T	C	3: 88,655,149 (GRCm39)	D78G	probably damaging	Het
Tatdn2	T	G	6: 113,684,348 (GRCm39)	I674S	probably damaging	Het
Tex14	T	A	11: 87,383,878 (GRCm39)	S189R	probably benign	Het
Tln2	C	A	9: 67,128,693 (GRCm39)	E1465D	possibly damaging	Het
Tor3a	T	C	1: 156,483,373 (GRCm39)	T350A	probably benign	Het
Ttr	T	G	18: 20,799,550 (GRCm39)	V36G	probably damaging	Het
Vmn1r129	A	T	7: 21,095,205 (GRCm39)	H4Q	probably null	Het
Vmn1r32	A	G	6: 66,530,623 (GRCm39)	M51T	possibly damaging	Het
Zfp141	T	C	7: 42,125,687 (GRCm39)	T262A	possibly damaging	Het
Zfp980	T	A	4: 145,427,596 (GRCm39)	N108K	probably benign	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
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
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'- TCCTTGTGGCTTACAGGAAAG -3'
(R):5'- TTATGAAATCGTTTCTGGGCTCCTAG -3'

Sequencing Primer
(F):5'- AAAGTAAGCCTGCAAATGGTG -3'
(R):5'- TAGGACTGTGGCCTCCTAGAG -3'

Posted On

2021-07-15