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 dehyrogenase phosphatase catalytic subunit 2

Synonyms

4833426J09Rik, LOC382051

Accession Numbers

Essential gene?

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

Stock #

IGL01946

Quality Score

Status

Chromosome

Chromosomal Location

104591451-104599026 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104594192 bp (GRCm38)

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: 128,570,479	E343K	possibly damaging	Het
Abcc9	T	C	6: 142,626,037	I1087V	probably benign	Het
Bcam	A	C	7: 19,760,117	Y416*	probably null	Het
Bhlhe22	T	A	3: 18,055,796	C337S	probably damaging	Het
Cerkl	T	C	2: 79,393,020	D119G	probably benign	Het
Cog6	T	C	3: 53,002,404		probably benign	Het
Dchs1	T	C	7: 105,759,105	D1840G	probably damaging	Het
Dhx16	G	T	17: 35,885,504	M521I	probably benign	Het
Dnaja2	A	G	8: 85,546,700	I196T	probably damaging	Het
Fbxw7	T	C	3: 84,904,062	Y165H	possibly damaging	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm3371	A	G	14: 44,408,721	Y96H	probably damaging	Het
Gm884	T	A	11: 103,612,933	R560S	probably benign	Het
H2-T10	G	A	17: 36,120,716	A82V	possibly damaging	Het
Hydin	A	G	8: 110,490,718	T1413A	possibly damaging	Het
Krt23	T	A	11: 99,492,839	M76L	possibly damaging	Het
Lipe	A	T	7: 25,383,276	M504K	possibly damaging	Het
Lta4h	T	A	10: 93,471,370		probably benign	Het
Ltbp2	T	C	12: 84,830,748	T348A	probably damaging	Het
Mybpc2	C	A	7: 44,509,898		probably benign	Het
Olfr550	T	C	7: 102,578,527		probably null	Het
Olfr582	T	A	7: 103,042,150	S219T	probably damaging	Het
Pimreg	C	T	11: 72,044,978		probably benign	Het
Pld1	A	T	3: 28,124,617	S887C	probably damaging	Het
Ppp1r3g	G	A	13: 35,968,995	A133T	possibly damaging	Het
Prpf8	G	A	11: 75,499,992	G1323D	probably damaging	Het
Rab3ip	A	G	10: 116,937,395		probably null	Het
Rpain	A	G	11: 70,970,532	H9R	possibly damaging	Het
Scin	T	C	12: 40,060,491		probably benign	Het
Serpinb6d	A	G	13: 33,671,386	T348A	probably benign	Het
Smad3	A	G	9: 63,757,553	L42P	probably damaging	Het
Smr3a	C	T	5: 88,008,155		probably benign	Het
Vmn2r13	G	A	5: 109,174,219	T204I	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Zfhx3	A	G	8: 108,933,929	N1272D	probably damaging	Het

Other mutations in Pdp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Pdp2	APN	8	104594197	missense	probably benign
IGL01771:Pdp2	APN	8	104594122	missense	probably benign	0.06
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

2014-05-07