Mutagenetix > Incidental Mutation

Incidental Mutation 'R4812:Pdpr'

369552

Institutional Source

Beutler Lab

Gene Symbol

Pdpr

Ensembl Gene

ENSMUSG00000033624

Gene Name

pyruvate dehydrogenase phosphatase regulatory subunit

Synonyms

4930402E16Rik

MMRRC Submission

042431-MU

Accession Numbers

Essential gene?

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

Stock #

R4812 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111821262-111863706 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111843349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 294 (N294D)

Ref Sequence

ENSEMBL: ENSMUSP00000046639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039333] [ENSMUST00000135302] [ENSMUST00000144377]

AlphaFold

Q7TSQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000039333
AA Change: N294D

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

SMART Domains

Protein: ENSMUSP00000046639
Gene: ENSMUSG00000033624
AA Change: N294D

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: ENSMUST00000135302

SMART Domains

Protein: ENSMUSP00000117570
Gene: ENSMUSG00000033624

Domain	Start	End	E-Value	Type
low complexity region	20	35	N/A	INTRINSIC
Pfam:DAO	43	145	4.6e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144377
AA Change: N294D

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

SMART Domains

Protein: ENSMUSP00000121325
Gene: ENSMUSG00000033624
AA Change: N294D

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

0.1490

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

93% (124/133)

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: 128 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017G19Rik	C	T	3: 40,575,633 (GRCm39)		noncoding transcript	Het
Abca5	T	C	11: 110,192,647 (GRCm39)	D681G	probably damaging	Het
Actl11	T	C	9: 107,808,329 (GRCm39)	V884A	probably damaging	Het
Akr1c14	G	A	13: 4,129,165 (GRCm39)	V187M	probably damaging	Het
Apbb1	A	T	7: 105,223,232 (GRCm39)	N126K	probably damaging	Het
Bmt2	G	T	6: 13,677,799 (GRCm39)	R12S	unknown	Het
Btrc	G	A	19: 45,411,603 (GRCm39)	C9Y	possibly damaging	Het
C5ar1	A	C	7: 15,982,258 (GRCm39)		probably null	Het
C8a	C	T	4: 104,719,788 (GRCm39)		probably null	Het
Cabin1	A	G	10: 75,482,428 (GRCm39)	S2172P	possibly damaging	Het
Calcoco2	T	C	11: 95,998,276 (GRCm39)	D49G	probably damaging	Het
Camta1	C	T	4: 151,215,999 (GRCm39)	D974N	probably null	Het
Car6	T	C	4: 150,281,872 (GRCm39)	E47G	probably damaging	Het
Ccnd3	G	A	17: 47,908,505 (GRCm39)		probably null	Het
Celf5	A	T	10: 81,306,573 (GRCm39)	V30E	probably damaging	Het
Cfap251	G	A	5: 123,425,368 (GRCm39)	V776I	probably benign	Het
Cfap46	T	A	7: 139,215,916 (GRCm39)	D1513V	probably damaging	Het
Cinp	T	C	12: 110,846,174 (GRCm39)	Y84C	probably damaging	Het
Cnih1	A	G	14: 47,014,001 (GRCm39)	I154T	probably damaging	Het
Col15a1	C	T	4: 47,262,479 (GRCm39)	P511L	possibly damaging	Het
Col4a4	C	T	1: 82,439,874 (GRCm39)	V1364M	unknown	Het
Cplane1	T	G	15: 8,230,607 (GRCm39)		probably null	Het
Crtam	A	G	9: 40,895,621 (GRCm39)	L38P	probably damaging	Het
Ctnna1	T	A	18: 35,372,530 (GRCm39)	V495D	probably damaging	Het
Cubn	T	C	2: 13,463,887 (GRCm39)	Y606C	probably damaging	Het
Cyp4f16	C	T	17: 32,765,652 (GRCm39)	A345V	probably null	Het
Dctn1	A	T	6: 83,166,919 (GRCm39)	M160L	probably benign	Het
Dip2c	T	A	13: 9,687,166 (GRCm39)	C366*	probably null	Het
Dnajc2	G	A	5: 21,968,484 (GRCm39)	S401L	probably benign	Het
Dnmt3l	A	G	10: 77,893,128 (GRCm39)	I302V	probably benign	Het
Dvl2	T	C	11: 69,902,119 (GRCm39)		probably benign	Het
Edn1	T	G	13: 42,457,116 (GRCm39)	S50A	probably benign	Het
Efhc1	A	T	1: 21,060,871 (GRCm39)	R636W	probably damaging	Het
Epg5	T	A	18: 78,022,399 (GRCm39)	H1047Q	probably benign	Het
Etv1	T	G	12: 38,911,287 (GRCm39)	V371G	probably damaging	Het
Fap	T	A	2: 62,349,365 (GRCm39)	I475F	probably damaging	Het
Fbxw15	T	C	9: 109,388,990 (GRCm39)	I140V	probably benign	Het
Fer	A	G	17: 64,241,292 (GRCm39)	T311A	probably benign	Het
Fh1	A	G	1: 175,429,025 (GRCm39)	W497R	probably damaging	Het
Flot2	T	A	11: 77,944,191 (GRCm39)	L45Q	probably damaging	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Fmnl1	T	C	11: 103,089,390 (GRCm39)		probably benign	Het
Garin5b	G	A	7: 4,762,071 (GRCm39)	T295M	probably damaging	Het
Ggta1	C	T	2: 35,292,735 (GRCm39)	V203I	probably benign	Het
Gm19345	C	T	7: 19,591,798 (GRCm39)	V204M	probably damaging	Het
Gm4204	T	A	1: 135,160,227 (GRCm39)		noncoding transcript	Het
Gm6124	C	G	7: 38,872,319 (GRCm39)		noncoding transcript	Het
Gprin3	T	A	6: 59,330,350 (GRCm39)	K652N	possibly damaging	Het
Gucy1b2	T	C	14: 62,653,346 (GRCm39)		probably null	Het
Hace1	C	A	10: 45,562,699 (GRCm39)	A738E	probably benign	Het
Hectd1	C	T	12: 51,874,134 (GRCm39)		probably null	Het
Hnrnpdl	T	C	5: 100,184,331 (GRCm39)		probably benign	Het
Hyou1	T	C	9: 44,298,418 (GRCm39)		probably benign	Het
Ifi44l	G	A	3: 151,465,336 (GRCm39)	A138V	probably benign	Het
Igkv16-104	A	T	6: 68,402,829 (GRCm39)	I41F	possibly damaging	Het
Ints7	T	A	1: 191,326,542 (GRCm39)	D171E	possibly damaging	Het
Irag2	G	A	6: 145,093,737 (GRCm39)	G120S	probably damaging	Het
Kmt2a	A	T	9: 44,742,651 (GRCm39)		probably benign	Het
Kmt2e	T	C	5: 23,707,585 (GRCm39)	V1716A	possibly damaging	Het
Krtap5-1	G	A	7: 141,850,628 (GRCm39)	S60F	unknown	Het
Lama4	G	A	10: 38,948,765 (GRCm39)	V843I	probably benign	Het
Laptm5	A	G	4: 130,640,749 (GRCm39)		probably null	Het
Lbhd1	G	A	19: 8,866,538 (GRCm39)	A193T	probably damaging	Het
Lce3f	C	T	3: 92,900,247 (GRCm39)	P23S	unknown	Het
Mecom	A	C	3: 30,194,517 (GRCm39)	M1R	probably null	Het
Mindy4	A	C	6: 55,256,088 (GRCm39)	T531P	possibly damaging	Het
Mrpl3	A	G	9: 104,951,023 (GRCm39)	N263S	probably damaging	Het
Myo18b	T	C	5: 112,957,584 (GRCm39)	K1460E	possibly damaging	Het
Myof	A	G	19: 37,905,007 (GRCm39)	Y852H	probably damaging	Het
Nefl	T	G	14: 68,321,734 (GRCm39)	V108G	probably damaging	Het
Nid1	T	A	13: 13,681,053 (GRCm39)	L1061*	probably null	Het
Nim1k	T	A	13: 120,173,920 (GRCm39)	M325L	probably benign	Het
Nlrp1c-ps	T	C	11: 71,143,131 (GRCm39)		noncoding transcript	Het
Npsr1	C	T	9: 24,201,252 (GRCm39)	T59I	probably damaging	Het
Nr2c1	A	G	10: 94,024,114 (GRCm39)	T440A	probably benign	Het
Nup160	C	T	2: 90,556,035 (GRCm39)	T1245I	probably damaging	Het
Nup88	T	A	11: 70,856,552 (GRCm39)	T194S	probably damaging	Het
Oas3	A	G	5: 120,899,212 (GRCm39)		probably benign	Het
Odad2	T	G	18: 7,288,634 (GRCm39)	T78P	possibly damaging	Het
Opn1sw	A	T	6: 29,378,038 (GRCm39)	M252K	probably damaging	Het
Oprm1	T	G	10: 6,782,698 (GRCm39)		probably benign	Het
Or10ag59	A	G	2: 87,406,087 (GRCm39)	I220V	probably benign	Het
Or2y1g	T	A	11: 49,171,284 (GRCm39)	I103K	possibly damaging	Het
Or4x13	T	A	2: 90,231,440 (GRCm39)	M145K	probably benign	Het
Pcdha2	T	A	18: 37,072,861 (GRCm39)	V164E	probably benign	Het
Pclo	A	G	5: 14,590,039 (GRCm39)	T780A	unknown	Het
Pcnx2	T	A	8: 126,592,678 (GRCm39)	Q762L	probably benign	Het
Pcyt2	A	T	11: 120,505,251 (GRCm39)		probably benign	Het
Perm1	T	A	4: 156,303,193 (GRCm39)	V579E	possibly damaging	Het
Pgk2	T	A	17: 40,518,281 (GRCm39)	K382N	possibly damaging	Het
Plcb4	T	A	2: 135,849,801 (GRCm39)	L205Q	probably damaging	Het
Plekha3	C	T	2: 76,516,975 (GRCm39)	T109I	probably damaging	Het
Pnn	T	A	12: 59,118,404 (GRCm39)	V329E	possibly damaging	Het
Ptpn13	A	G	5: 103,671,481 (GRCm39)	I469M	probably benign	Het
Rapgef3	A	G	15: 97,651,684 (GRCm39)	V603A	probably benign	Het
Rbms1	C	T	2: 60,623,113 (GRCm39)	V75I	possibly damaging	Het
Rbp3	T	A	14: 33,676,731 (GRCm39)	D226E	probably damaging	Het
Robo2	A	T	16: 73,713,176 (GRCm39)	N1189K	probably benign	Het
Rragd	A	G	4: 33,018,766 (GRCm39)	T270A	probably benign	Het
Rxfp1	T	A	3: 79,557,889 (GRCm39)	T530S	probably benign	Het
Ryr3	T	C	2: 112,742,581 (GRCm39)	E479G	probably damaging	Het
Scd2	A	T	19: 44,289,841 (GRCm39)	I279F	probably damaging	Het
Sh3d19	A	T	3: 86,031,074 (GRCm39)	D746V	probably damaging	Het
Shroom4	A	G	X: 6,536,180 (GRCm39)	K1133E	probably benign	Het
Sirpb1c	A	G	3: 15,887,386 (GRCm39)	V151A	probably damaging	Het
Slc26a2	A	T	18: 61,335,093 (GRCm39)	I120N	probably damaging	Het
Slco1a1	A	G	6: 141,864,319 (GRCm39)	S494P	probably damaging	Het
Srebf2	A	T	15: 82,088,026 (GRCm39)	T1061S	probably damaging	Het
Sspo	T	C	6: 48,467,444 (GRCm39)	L4202P	probably benign	Het
Synj2	G	A	17: 6,060,939 (GRCm39)	G215E	probably damaging	Het
Tbc1d19	T	C	5: 53,967,148 (GRCm39)	V16A	probably damaging	Het
Tektl1	T	C	10: 78,585,050 (GRCm39)	H262R	probably benign	Het
Tiparp	T	C	3: 65,460,190 (GRCm39)	I495T	possibly damaging	Het
Tipin	A	G	9: 64,211,694 (GRCm39)	H260R	probably benign	Het
Tle1	A	G	4: 72,063,591 (GRCm39)	S221P	probably damaging	Het
Tmem94	T	A	11: 115,686,938 (GRCm39)	L1101*	probably null	Het
Trim43b	C	T	9: 88,973,533 (GRCm39)	D67N	probably benign	Het
Ubn2	T	A	6: 38,440,661 (GRCm39)	C178S	probably benign	Het
Vmn1r54	T	C	6: 90,246,307 (GRCm39)	F74L	probably benign	Het
Vmn2r24	A	G	6: 123,756,144 (GRCm39)	H72R	probably benign	Het
Wnk1	C	T	6: 119,929,732 (GRCm39)	V850I	probably benign	Het
Zan	T	G	5: 137,454,547 (GRCm39)	Y1419S	unknown	Het
Zbtb14	T	A	17: 69,694,577 (GRCm39)	Y92N	probably damaging	Het
Zfand5	A	G	19: 21,255,101 (GRCm39)	K116E	probably benign	Het
Zfhx3	A	G	8: 109,674,593 (GRCm39)	E1881G	possibly damaging	Het
Zfp280b	A	G	10: 75,874,924 (GRCm39)	K268E	probably benign	Het
Zfp541	A	G	7: 15,813,035 (GRCm39)	I563V	probably benign	Het
Zfy2	T	A	Y: 2,106,334 (GRCm39)	I767L	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
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

Predicted Primers

PCR Primer
(F):5'- CAGTAGAAGTGTTTTAATGGATGCC -3'
(R):5'- TACTATTGTACTTTCTGGAGCTGTC -3'

Sequencing Primer
(F):5'- CTGTATTTATTGGCTGCTGCAC -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'

Posted On

2016-02-04