Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01771:Pdp2'

153843

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pdp2

Ensembl Gene

ENSMUSG00000048371

Gene Name

pyruvate dehyrogenase phosphatase catalytic subunit 2

Synonyms

4833426J09Rik, LOC382051

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

IGL01771

Quality Score

Status

Chromosome

Chromosomal Location

104591451-104599026 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104594122 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 201 (Y201F)

Ref Sequence

ENSEMBL: ENSMUSP00000092821 (fasta)

Gene Model

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

AlphaFold

Q504M2

Predicted Effect

probably benign
Transcript: ENSMUST00000059588
AA Change: Y201F

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000092821
Gene: ENSMUSG00000048371
AA Change: Y201F

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Capn10	T	A	1: 92,940,365	W185R	probably damaging	Het
Frmd8	A	G	19: 5,869,575	L148P	probably damaging	Het
Gk5	T	C	9: 96,177,435	C447R	probably damaging	Het
Hip1r	T	A	5: 123,999,543	V704D	possibly damaging	Het
Kcnj10	C	A	1: 172,369,583	H221Q	probably benign	Het
Klk1b8	A	T	7: 43,954,866	I253L	probably damaging	Het
Olfr1090	C	T	2: 86,754,282	C152Y	probably benign	Het
Olfr204	T	C	16: 59,314,528	N293S	probably damaging	Het
Olfr389	A	T	11: 73,776,664	I221N	probably damaging	Het
Olfr431-ps1	T	C	1: 174,051,321		probably benign	Het
Olfr51	A	G	11: 51,007,766	T265A	probably benign	Het
Ppfia1	A	T	7: 144,482,357	I1112K	probably benign	Het
Ppwd1	A	G	13: 104,217,116	I378T	probably damaging	Het
Rhbdd1	T	A	1: 82,377,592	D248E	probably benign	Het
Sec14l5	T	C	16: 5,178,630		probably null	Het
Sel1l3	T	G	5: 53,121,841	D960A	probably damaging	Het
Slc35f3	T	C	8: 126,389,212	Y293H	probably benign	Het
Wwc1	A	G	11: 35,853,358		probably null	Het
Zan	T	C	5: 137,393,068	N4718S	unknown	Het
Zfyve16	T	C	13: 92,522,172	I410M	probably benign	Het

Other mutations in Pdp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Pdp2	APN	8	104594197	missense	probably benign
IGL01946:Pdp2	APN	8	104594192	missense	probably benign	0.00
IGL02313:Pdp2	APN	8	104594899	missense	probably benign	0.44
IGL02588:Pdp2	APN	8	104594904	missense	possibly damaging	0.73
IGL02981:Pdp2	APN	8	104593635	missense	probably benign	0.00
R0456:Pdp2	UTSW	8	104593789	missense	probably damaging	1.00
R1260:Pdp2	UTSW	8	104594617	missense	probably damaging	0.96
R1974:Pdp2	UTSW	8	104593906	missense	probably benign
R3008:Pdp2	UTSW	8	104594266	missense	probably benign	0.08
R4580:Pdp2	UTSW	8	104594944	missense	probably damaging	1.00
R4655:Pdp2	UTSW	8	104594536	missense	probably benign	0.03
R5677:Pdp2	UTSW	8	104594688	missense	probably damaging	1.00
R6813:Pdp2	UTSW	8	104594499	missense	probably damaging	1.00
R8176:Pdp2	UTSW	8	104595055	missense	probably damaging	1.00
R8472:Pdp2	UTSW	8	104594281	missense	probably benign	0.00

Posted On

2014-02-04