Mutagenetix > Incidental Mutation

Incidental Mutation 'R4580:Pdp2'

343595

Institutional Source

Beutler Lab

Gene Symbol

Pdp2

Ensembl Gene

ENSMUSG00000048371

Gene Name

pyruvate dehyrogenase phosphatase catalytic subunit 2

Synonyms

4833426J09Rik, LOC382051

MMRRC Submission

041599-MU

Accession Numbers

Essential gene?

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

Stock #

R4580 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104591451-104599026 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 104594944 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 475 (T475K)

Ref Sequence

ENSEMBL: ENSMUSP00000092821 (fasta)

Gene Model

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

AlphaFold

Q504M2

Predicted Effect

probably damaging
Transcript: ENSMUST00000059588
AA Change: T475K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092821
Gene: ENSMUSG00000048371
AA Change: T475K

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	C	11: 69,900,411	Y114C	probably damaging	Het
4932438A13Rik	A	T	3: 37,030,025	T3864S	probably benign	Het
Abcc2	T	C	19: 43,811,119	S556P	probably damaging	Het
AI314180	T	C	4: 58,840,751	Y669C	probably damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Atp6v1g1	A	G	4: 63,550,032	N91D	probably benign	Het
BC005537	G	T	13: 24,803,411	A11S	probably benign	Het
BC049352	G	T	9: 45,244,128		probably null	Het
Bub1	A	C	2: 127,829,676		probably null	Het
Ccdc162	T	C	10: 41,561,140	T1758A	probably benign	Het
Cdh15	T	C	8: 122,865,158	L594P	probably damaging	Het
Cobll1	C	T	2: 65,151,073	V90I	probably benign	Het
Cog2	T	C	8: 124,545,136	V463A	probably benign	Het
Cpeb4	T	A	11: 31,927,757		probably null	Het
Creb5	G	A	6: 53,604,534	M172I	possibly damaging	Het
Cyp4a32	T	C	4: 115,602,929		silent	Het
Dnah8	T	A	17: 30,662,052	S588T	probably benign	Het
Esd	T	C	14: 74,742,077	V120A	possibly damaging	Het
Fbxo5	T	C	10: 5,805,255		probably null	Het
Gm4922	T	C	10: 18,783,684	D430G	probably benign	Het
Golga4	C	A	9: 118,557,259	Q1150K	probably benign	Het
Grb14	T	C	2: 64,953,603	N60S	probably benign	Het
Grk4	A	G	5: 34,660,981	N2S	probably damaging	Het
Henmt1	T	A	3: 108,942,765	S21R	probably benign	Het
Ifngr2	A	G	16: 91,558,018	K113E	probably benign	Het
Ighv15-2	T	A	12: 114,564,970	T15S	probably benign	Het
Kif24	A	G	4: 41,395,287	S529P	probably damaging	Het
Large2	T	C	2: 92,370,612	N51S	possibly damaging	Het
Lmtk2	A	G	5: 144,174,781	E773G	possibly damaging	Het
Lrfn3	A	T	7: 30,360,042	C253S	probably damaging	Het
Maea	T	C	5: 33,360,488	V130A	possibly damaging	Het
March11	A	T	15: 26,311,103	I222F	probably damaging	Het
Mast4	A	T	13: 102,737,258	Y1699*	probably null	Het
Mavs	G	T	2: 131,240,450	A85S	probably damaging	Het
Mpzl3	T	A	9: 45,068,231	V160E	possibly damaging	Het
Myh15	T	C	16: 49,065,025	S88P	possibly damaging	Het
Myl2	A	T	5: 122,106,738	H157L	probably benign	Het
Myo9b	A	G	8: 71,315,135	N284S	probably damaging	Het
Nphp1	A	G	2: 127,768,169		probably null	Het
Nrcam	T	C	12: 44,562,540		probably null	Het
Nt5c3b	G	T	11: 100,433,059	F134L	probably damaging	Het
Olfr1225	T	A	2: 89,171,200	Q4L	probably benign	Het
Otog	A	G	7: 46,287,801	R1645G	possibly damaging	Het
Pask	T	C	1: 93,322,108	I523M	probably benign	Het
Pcdhb7	T	A	18: 37,342,135	L108Q	probably damaging	Het
Pgbd1	G	C	13: 21,428,329	P113A	probably benign	Het
Plk5	C	T	10: 80,360,467	H291Y	possibly damaging	Het
Pmpca	G	T	2: 26,393,335	S382I	probably damaging	Het
Prl3b1	A	G	13: 27,249,467	T202A	possibly damaging	Het
Ptgs2	A	T	1: 150,104,094	T317S	possibly damaging	Het
Ptprc	C	T	1: 138,071,251	M1020I	probably benign	Het
Rhbdl3	T	C	11: 80,353,645	Y393H	probably damaging	Het
Sema3e	T	C	5: 14,233,703	L482P	probably damaging	Het
Setd2	C	T	9: 110,574,243	T1984I	probably benign	Het
Slc17a1	T	C	13: 23,887,977	Y393H	probably damaging	Het
Slc9a3	C	T	13: 74,158,886	R377*	probably null	Het
Slitrk3	A	G	3: 73,051,206	S78P	probably damaging	Het
Specc1	T	A	11: 62,219,331	V1054E	probably damaging	Het
Tbc1d4	T	C	14: 101,458,783	T847A	probably benign	Het
Tcf7l2	G	A	19: 55,919,036	G343R	probably damaging	Het
Tex36	A	C	7: 133,587,382	Y154D	possibly damaging	Het
Topaz1	T	A	9: 122,747,515	M57K	probably null	Het
Trav6-4	T	C	14: 53,454,699	Y85H	probably damaging	Het
Trim30d	A	G	7: 104,472,558	Y327H	possibly damaging	Het
Ttn	A	G	2: 76,951,396	V1056A	probably benign	Het
Usp32	C	A	11: 85,059,127		probably null	Het
Vmn1r59	A	T	7: 5,454,137	M208K	probably damaging	Het
Vmn2r25	T	C	6: 123,823,023	T787A	possibly damaging	Het
Vps39	A	T	2: 120,339,333	I246N	probably benign	Het
Xab2	T	C	8: 3,610,162	D855G	probably damaging	Het
Xpc	A	G	6: 91,500,011	S369P	probably benign	Het
Ythdc2	T	A	18: 44,858,198	C758S	possibly damaging	Het
Zfp62	A	G	11: 49,216,272	I397V	possibly damaging	Het
Zscan4d	A	G	7: 11,162,508	S312P	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTAAGGCGCCAGGATAAGTTCC -3'
(R):5'- ATTCCTGTTAGCCTTGGCAC -3'

Sequencing Primer
(F):5'- ATAAGTTCCTGGTGCTGGCCTC -3'
(R):5'- TGTTAGCCTTGGCACCAGAG -3'

Posted On

2015-09-24