Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01946:Pdp2'

180971

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: 0.130) question?

Stock #

IGL01946

Quality Score

Status

Chromosome

Chromosomal Location

105318104-105325658 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 105320824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 224 (M224I)

Ref Sequence

ENSEMBL: ENSMUSP00000092821 (fasta)

Gene Model

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

AlphaFold

Q504M2

Predicted Effect

probably benign
Transcript: ENSMUST00000059588
AA Change: M224I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000092821
Gene: ENSMUSG00000048371
AA Change: M224I

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,547,442 (GRCm39)	E343K	possibly damaging	Het
Abcc9	T	C	6: 142,571,763 (GRCm39)	I1087V	probably benign	Het
Bcam	A	C	7: 19,494,042 (GRCm39)	Y416*	probably null	Het
Bhlhe22	T	A	3: 18,109,960 (GRCm39)	C337S	probably damaging	Het
Cerkl	T	C	2: 79,223,364 (GRCm39)	D119G	probably benign	Het
Cog6	T	C	3: 52,909,825 (GRCm39)		probably benign	Het
Dchs1	T	C	7: 105,408,312 (GRCm39)	D1840G	probably damaging	Het
Dhx16	G	T	17: 36,196,396 (GRCm39)	M521I	probably benign	Het
Dnaja2	A	G	8: 86,273,329 (GRCm39)	I196T	probably damaging	Het
Fbxw7	T	C	3: 84,811,369 (GRCm39)	Y165H	possibly damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm3371	A	G	14: 44,646,178 (GRCm39)	Y96H	probably damaging	Het
H2-T10	G	A	17: 36,431,608 (GRCm39)	A82V	possibly damaging	Het
Hydin	A	G	8: 111,217,350 (GRCm39)	T1413A	possibly damaging	Het
Krt23	T	A	11: 99,383,665 (GRCm39)	M76L	possibly damaging	Het
Lipe	A	T	7: 25,082,701 (GRCm39)	M504K	possibly damaging	Het
Lrrc37	T	A	11: 103,503,759 (GRCm39)	R560S	probably benign	Het
Lta4h	T	A	10: 93,307,232 (GRCm39)		probably benign	Het
Ltbp2	T	C	12: 84,877,522 (GRCm39)	T348A	probably damaging	Het
Mybpc2	C	A	7: 44,159,322 (GRCm39)		probably benign	Het
Or51r1	T	C	7: 102,227,734 (GRCm39)		probably null	Het
Or52r1b	T	A	7: 102,691,357 (GRCm39)	S219T	probably damaging	Het
Pimreg	C	T	11: 71,935,804 (GRCm39)		probably benign	Het
Pld1	A	T	3: 28,178,766 (GRCm39)	S887C	probably damaging	Het
Ppp1r3g	G	A	13: 36,152,978 (GRCm39)	A133T	possibly damaging	Het
Prpf8	G	A	11: 75,390,818 (GRCm39)	G1323D	probably damaging	Het
Rab3ip	A	G	10: 116,773,300 (GRCm39)		probably null	Het
Rpain	A	G	11: 70,861,358 (GRCm39)	H9R	possibly damaging	Het
Scin	T	C	12: 40,110,490 (GRCm39)		probably benign	Het
Serpinb6d	A	G	13: 33,855,369 (GRCm39)	T348A	probably benign	Het
Smad3	A	G	9: 63,664,835 (GRCm39)	L42P	probably damaging	Het
Smr3a	C	T	5: 88,156,014 (GRCm39)		probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r13	G	A	5: 109,322,085 (GRCm39)	T204I	probably benign	Het
Zfhx3	A	G	8: 109,660,561 (GRCm39)	N1272D	probably damaging	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
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
IGL02981:Pdp2	APN	8	105,320,267 (GRCm39)	missense	probably benign	0.00
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

2014-05-07