Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02643:Pdp1'

301824

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pdp1

Ensembl Gene

ENSMUSG00000049225

Gene Name

pyruvate dehydrogenase phosphatase catalytic subunit 1

Synonyms

LOC381511, Ppm2c

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02643

Quality Score

Status

Chromosome

Chromosomal Location

11958183-11966450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 11962062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 83 (R83H)

Ref Sequence

ENSEMBL: ENSMUSP00000103937 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056050] [ENSMUST00000095144] [ENSMUST00000108297] [ENSMUST00000108299] [ENSMUST00000108301] [ENSMUST00000108302]

AlphaFold

Q3UV70

Predicted Effect

probably benign
Transcript: ENSMUST00000056050
AA Change: R43H

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

SMART Domains

Protein: ENSMUSP00000050521
Gene: ENSMUSG00000049225
AA Change: R43H

Domain	Start	End	E-Value	Type
PP2Cc	99	523	3.36e-97	SMART
PP2C_SIG	177	525	2.77e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095144
AA Change: R68H

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

SMART Domains

Protein: ENSMUSP00000092766
Gene: ENSMUSG00000049225
AA Change: R68H

Domain	Start	End	E-Value	Type
PP2Cc	124	548	3.36e-97	SMART
PP2C_SIG	202	550	2.77e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108297
AA Change: R43H

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

SMART Domains

Protein: ENSMUSP00000103932
Gene: ENSMUSG00000049225
AA Change: R43H

Domain	Start	End	E-Value	Type
PP2Cc	99	523	3.36e-97	SMART
PP2C_SIG	177	525	2.77e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108299
AA Change: R68H

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

SMART Domains

Protein: ENSMUSP00000103934
Gene: ENSMUSG00000049225
AA Change: R68H

Domain	Start	End	E-Value	Type
PP2Cc	124	548	3.36e-97	SMART
PP2C_SIG	202	550	2.77e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108301
AA Change: R102H

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

SMART Domains

Protein: ENSMUSP00000103936
Gene: ENSMUSG00000049225
AA Change: R102H

Domain	Start	End	E-Value	Type
low complexity region	11	18	N/A	INTRINSIC
PP2Cc	158	582	3.36e-97	SMART
PP2C_SIG	236	584	2.77e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108302
AA Change: R83H

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

SMART Domains

Protein: ENSMUSP00000103937
Gene: ENSMUSG00000049225
AA Change: R83H

Domain	Start	End	E-Value	Type
PP2Cc	139	563	3.36e-97	SMART
PP2C_SIG	217	565	2.77e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146154

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154194

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 (E1) is one of the three components (E1, E2, and E3) of the large pyruvate dehydrogenase complex. Pyruvate dehydrogenase kinases catalyze phosphorylation of serine residues of E1 to inactivate the E1 component and inhibit the complex. Pyruvate dehydrogenase phosphatases catalyze the dephosphorylation and activation of the E1 component to reverse the effects of pyruvate dehydrogenase kinases. Pyruvate dehydrogenase phosphatase is a heterodimer consisting of catalytic and regulatory subunits. Two catalytic subunits have been reported; one is predominantly expressed in skeletal muscle and another one is is much more abundant in the liver. The catalytic subunit, encoded by this gene, is the former, and belongs to the protein phosphatase 2C (PP2C) superfamily. Along with the pyruvate dehydrogenase complex and pyruvate dehydrogenase kinases, this enzyme is located in the mitochondrial matrix. Mutation in this gene causes pyruvate dehydrogenase phosphatase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	G	5: 121,769,633 (GRCm39)	M608L	probably benign	Het
Adamts2	A	T	11: 50,679,527 (GRCm39)	M836L	probably benign	Het
Ankrd11	A	T	8: 123,619,061 (GRCm39)	M1597K	probably damaging	Het
Arhgef17	A	T	7: 100,533,089 (GRCm39)	F1145L	possibly damaging	Het
Atp13a3	A	T	16: 30,152,614 (GRCm39)	W32R	probably null	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Bod1l	T	A	5: 41,976,148 (GRCm39)	E1722V	possibly damaging	Het
Ceacam16	A	G	7: 19,595,086 (GRCm39)		probably benign	Het
Col14a1	T	A	15: 55,284,258 (GRCm39)	Y840N	unknown	Het
Dlg5	A	G	14: 24,241,250 (GRCm39)	C132R	probably damaging	Het
Dock4	T	A	12: 40,718,429 (GRCm39)	N242K	probably damaging	Het
Dsg3	G	A	18: 20,662,012 (GRCm39)	V426I	probably benign	Het
Dync1h1	T	C	12: 110,625,706 (GRCm39)		probably benign	Het
Flvcr2	T	A	12: 85,842,997 (GRCm39)	M357K	possibly damaging	Het
Gapvd1	A	G	2: 34,594,192 (GRCm39)	S932P	probably damaging	Het
Gata4	T	A	14: 63,442,204 (GRCm39)	D205V	possibly damaging	Het
Kcnk2	T	A	1: 188,990,976 (GRCm39)	I195L	possibly damaging	Het
Krt1	T	C	15: 101,755,479 (GRCm39)	I427V	probably benign	Het
Mapk1ip1l	T	A	14: 47,548,339 (GRCm39)	H162Q	possibly damaging	Het
Micu1	A	G	10: 59,675,558 (GRCm39)	D380G	probably damaging	Het
Mknk2	A	C	10: 80,504,435 (GRCm39)	L289R	probably damaging	Het
Mtcl2	A	G	2: 156,882,663 (GRCm39)	V463A	probably damaging	Het
Myo18a	A	T	11: 77,668,998 (GRCm39)	N286I	possibly damaging	Het
Or5ae2	A	T	7: 84,506,239 (GRCm39)	I221F	probably damaging	Het
Ptafr	A	C	4: 132,307,437 (GRCm39)	I276L	probably benign	Het
Rab3gap2	A	T	1: 184,999,197 (GRCm39)	D968V	possibly damaging	Het
Rplp1rt	T	C	19: 12,824,300 (GRCm39)		noncoding transcript	Het
Samd8	T	A	14: 21,843,212 (GRCm39)	M447K	probably damaging	Het
Six5	G	T	7: 18,831,455 (GRCm39)	V649L	probably benign	Het
Slc1a2	T	A	2: 102,570,225 (GRCm39)	F168I	probably benign	Het
Slc1a7	G	A	4: 107,869,497 (GRCm39)	V521M	possibly damaging	Het
Sorbs1	T	C	19: 40,353,577 (GRCm39)	D206G	possibly damaging	Het
Stim2	T	C	5: 54,267,955 (GRCm39)	V417A	probably damaging	Het
Tbx20	A	G	9: 24,685,009 (GRCm39)		probably benign	Het
Tia1	A	G	6: 86,393,372 (GRCm39)	I71V	probably benign	Het
Ttc7	T	C	17: 87,648,327 (GRCm39)	S509P	possibly damaging	Het
Ttpal	A	G	2: 163,449,140 (GRCm39)		probably benign	Het
Tubgcp2	A	T	7: 139,576,067 (GRCm39)	N865K	probably damaging	Het
Wdr45	G	T	X: 7,593,288 (GRCm39)	E62*	probably null	Het
Zfp507	A	G	7: 35,494,656 (GRCm39)	F129S	probably damaging	Het
Zfp518b	T	A	5: 38,831,498 (GRCm39)	H169L	probably damaging	Het

Other mutations in Pdp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02243:Pdp1	APN	4	11,961,873 (GRCm39)	missense	probably benign	0.20
R1931:Pdp1	UTSW	4	11,962,074 (GRCm39)	missense	probably benign	0.01
R2162:Pdp1	UTSW	4	11,961,123 (GRCm39)	missense	probably damaging	0.98
R2418:Pdp1	UTSW	4	11,961,838 (GRCm39)	missense	probably damaging	0.98
R3843:Pdp1	UTSW	4	11,961,961 (GRCm39)	missense	probably benign	0.00
R5699:Pdp1	UTSW	4	11,960,907 (GRCm39)	missense	possibly damaging	0.79
R6479:Pdp1	UTSW	4	11,961,327 (GRCm39)	missense	probably damaging	1.00
R7221:Pdp1	UTSW	4	11,961,004 (GRCm39)	missense	probably damaging	0.99
R7263:Pdp1	UTSW	4	11,960,821 (GRCm39)	missense	possibly damaging	0.82
R8483:Pdp1	UTSW	4	11,961,982 (GRCm39)	missense	probably benign
R9184:Pdp1	UTSW	4	11,962,143 (GRCm39)	missense	possibly damaging	0.80
R9712:Pdp1	UTSW	4	11,961,607 (GRCm39)	missense	probably benign	0.41
Z1177:Pdp1	UTSW	4	11,961,639 (GRCm39)	missense	possibly damaging	0.67

Posted On

2015-04-16