Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02981:Pdp2'

406542

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pdp2

Ensembl Gene

ENSMUSG00000048371

Gene Name

pyruvate dehydrogenase phosphatase catalytic subunit 2

Synonyms

LOC382051, 4833426J09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

IGL02981

Quality Score

Status

Chromosome

Chromosomal Location

105318104-105325658 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105320267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 39 (W39R)

Ref Sequence

ENSEMBL: ENSMUSP00000092821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059588]

AlphaFold

Q504M2

Predicted Effect

probably benign
Transcript: ENSMUST00000059588
AA Change: W39R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000092821
Gene: ENSMUSG00000048371
AA Change: W39R

Domain	Start	End	E-Value	Type
PP2Cc	96	518	1.1e-92	SMART
PP2C_SIG	121	520	2.56e-1	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a mitochondrial protein that functions as a phosphatase and is involved in the enzymatic resetting of the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2016]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	A	G	2: 150,675,044 (GRCm39)	S392P	probably benign	Het
Adam23	G	A	1: 63,610,112 (GRCm39)	V705I	probably damaging	Het
Ank2	T	G	3: 126,728,211 (GRCm39)	D794A	possibly damaging	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Aqr	T	C	2: 113,965,305 (GRCm39)		probably benign	Het
Atp9b	A	G	18: 80,797,504 (GRCm39)	V857A	possibly damaging	Het
Banp	T	C	8: 122,705,303 (GRCm39)	Y58H	possibly damaging	Het
Cacna1e	T	A	1: 154,347,171 (GRCm39)	N999Y	probably benign	Het
Cd14	T	C	18: 36,859,532 (GRCm39)		probably benign	Het
Crmp1	T	C	5: 37,443,770 (GRCm39)	I447T	probably damaging	Het
Dip2a	A	G	10: 76,112,255 (GRCm39)	V1090A	possibly damaging	Het
Ep400	T	A	5: 110,903,969 (GRCm39)	H210L	possibly damaging	Het
Ep400	T	A	5: 110,839,476 (GRCm39)		probably benign	Het
Fam243	T	C	16: 92,117,757 (GRCm39)	N177S	probably benign	Het
Fbxw26	A	G	9: 109,573,862 (GRCm39)	F97L	probably benign	Het
Fut8	C	A	12: 77,521,812 (GRCm39)	P484T	probably damaging	Het
Golph3	A	G	15: 12,349,550 (GRCm39)	E190G	probably benign	Het
Hectd1	A	T	12: 51,815,670 (GRCm39)	D1472E	possibly damaging	Het
Hnrnpdl	T	C	5: 100,184,958 (GRCm39)	I298V	possibly damaging	Het
Jakmip2	C	A	18: 43,695,595 (GRCm39)		probably null	Het
Kcnj5	G	A	9: 32,233,877 (GRCm39)	T146I	probably damaging	Het
Lyst	T	G	13: 13,809,496 (GRCm39)	F389V	probably damaging	Het
Myo1b	A	G	1: 51,817,532 (GRCm39)	S577P	probably damaging	Het
Myo3b	T	C	2: 69,938,969 (GRCm39)	V114A	probably damaging	Het
Or10a2	C	A	7: 106,673,758 (GRCm39)	T241N	probably damaging	Het
Pappa2	C	T	1: 158,678,714 (GRCm39)	G901R	probably benign	Het
Patz1	T	C	11: 3,240,656 (GRCm39)	Y15H	probably damaging	Het
Poc5	T	C	13: 96,538,265 (GRCm39)		probably null	Het
Pou3f1	A	G	4: 124,552,236 (GRCm39)	D246G	probably damaging	Het
Pramel5	T	A	4: 143,999,430 (GRCm39)	Y219F	probably benign	Het
Prrc2c	C	T	1: 162,532,748 (GRCm39)		probably benign	Het
Ptpn13	A	G	5: 103,676,670 (GRCm39)	K678E	probably damaging	Het
Rps2	T	C	17: 24,940,698 (GRCm39)	F271L	probably benign	Het
Serpina3k	C	A	12: 104,307,250 (GRCm39)	Q161K	probably benign	Het
Serpinb6b	A	G	13: 33,155,589 (GRCm39)	T101A	probably benign	Het
Tprkb	T	A	6: 85,904,861 (GRCm39)	D112E	probably benign	Het
Tubal3	A	G	13: 3,983,257 (GRCm39)	T346A	probably benign	Het
Vwde	A	G	6: 13,193,112 (GRCm39)	F409S	possibly damaging	Het
Zbtb6	G	A	2: 37,319,176 (GRCm39)	Q251*	probably null	Het

Other mutations in Pdp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Pdp2	APN	8	105,320,829 (GRCm39)	missense	probably benign
IGL01771:Pdp2	APN	8	105,320,754 (GRCm39)	missense	probably benign	0.06
IGL01946:Pdp2	APN	8	105,320,824 (GRCm39)	missense	probably benign	0.00
IGL02313:Pdp2	APN	8	105,321,531 (GRCm39)	missense	probably benign	0.44
IGL02588:Pdp2	APN	8	105,321,536 (GRCm39)	missense	possibly damaging	0.73
R0456:Pdp2	UTSW	8	105,320,421 (GRCm39)	missense	probably damaging	1.00
R1260:Pdp2	UTSW	8	105,321,249 (GRCm39)	missense	probably damaging	0.96
R1974:Pdp2	UTSW	8	105,320,538 (GRCm39)	missense	probably benign
R3008:Pdp2	UTSW	8	105,320,898 (GRCm39)	missense	probably benign	0.08
R4580:Pdp2	UTSW	8	105,321,576 (GRCm39)	missense	probably damaging	1.00
R4655:Pdp2	UTSW	8	105,321,168 (GRCm39)	missense	probably benign	0.03
R5677:Pdp2	UTSW	8	105,321,320 (GRCm39)	missense	probably damaging	1.00
R6813:Pdp2	UTSW	8	105,321,131 (GRCm39)	missense	probably damaging	1.00
R8176:Pdp2	UTSW	8	105,321,687 (GRCm39)	missense	probably damaging	1.00
R8472:Pdp2	UTSW	8	105,320,913 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02