Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02037:Pdha2'

184539

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pdha2

Ensembl Gene

ENSMUSG00000047674

Gene Name

pyruvate dehydrogenase E1 alpha 2

Synonyms

Pdhal

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02037

Quality Score

Status

Chromosome

Chromosomal Location

140915765-140918116 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 140916662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 282 (V282E)

Ref Sequence

ENSEMBL: ENSMUSP00000060774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057860]

AlphaFold

P35487

Predicted Effect

probably damaging
Transcript: ENSMUST00000057860
AA Change: V282E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000060774
Gene: ENSMUSG00000047674
AA Change: V282E

Domain	Start	End	E-Value	Type
Pfam:E1_dh	67	363	8.6e-121	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	T	A	6: 92,804,997 (GRCm39)		probably benign	Het
Ace2	T	A	X: 162,946,996 (GRCm39)	V293D	probably damaging	Het
Adgrg6	T	C	10: 14,317,185 (GRCm39)	Y545C	probably damaging	Het
Arhgap40	A	G	2: 158,376,742 (GRCm39)	T293A	probably damaging	Het
Arhgef19	A	G	4: 140,973,707 (GRCm39)	T65A	probably damaging	Het
Brf1	A	G	12: 112,956,682 (GRCm39)		probably null	Het
Cbfb	T	C	8: 105,905,252 (GRCm39)	S65P	possibly damaging	Het
Chsy1	T	C	7: 65,821,576 (GRCm39)	S604P	possibly damaging	Het
Ckmt1	T	C	2: 121,191,643 (GRCm39)	V271A	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Csmd2	T	C	4: 128,371,263 (GRCm39)		probably benign	Het
D430041D05Rik	A	G	2: 104,038,559 (GRCm39)		probably benign	Het
Dsg1c	A	G	18: 20,410,007 (GRCm39)	T492A	probably benign	Het
Fam3a	G	A	X: 73,430,241 (GRCm39)	T156I	probably damaging	Het
Fbn2	A	T	18: 58,229,087 (GRCm39)	C708S	probably damaging	Het
Fgf5	G	A	5: 98,409,831 (GRCm39)	G127R	probably damaging	Het
Fhip1a	T	G	3: 85,637,939 (GRCm39)	K120T	probably damaging	Het
Fn3k	A	T	11: 121,325,909 (GRCm39)	Y32F	probably benign	Het
Frem3	T	C	8: 81,338,118 (GRCm39)	I137T	probably benign	Het
Hc	T	C	2: 34,903,531 (GRCm39)	D1041G	probably benign	Het
Heatr6	T	A	11: 83,655,708 (GRCm39)		probably benign	Het
Hivep1	G	A	13: 42,309,553 (GRCm39)	A598T	probably benign	Het
Ifngr1	T	C	10: 19,483,007 (GRCm39)	S254P	probably benign	Het
Kel	T	C	6: 41,674,408 (GRCm39)	S341G	probably benign	Het
Klra6	A	C	6: 129,990,439 (GRCm39)	M224R	probably benign	Het
Mis18bp1	A	G	12: 65,183,522 (GRCm39)		probably null	Het
Mpeg1	C	T	19: 12,440,660 (GRCm39)	T706I	probably benign	Het
Mrpl41	T	C	2: 24,864,429 (GRCm39)	D81G	possibly damaging	Het
Or5al7	G	T	2: 85,993,181 (GRCm39)	F37L	probably benign	Het
Palld	T	C	8: 61,978,148 (GRCm39)	R881G	probably damaging	Het
Pga5	C	T	19: 10,654,065 (GRCm39)	R46Q	probably benign	Het
Plekhg2	T	C	7: 28,068,122 (GRCm39)	Y189C	probably damaging	Het
Rnf43	A	G	11: 87,622,479 (GRCm39)	T527A	probably benign	Het
Rplp0	G	A	5: 115,699,174 (GRCm39)	R73Q	probably benign	Het
Smco3	A	G	6: 136,808,197 (GRCm39)	*226R	probably null	Het
Sugp2	T	C	8: 70,712,324 (GRCm39)		probably benign	Het
Tsga10	T	C	1: 37,846,098 (GRCm39)	I343V	probably benign	Het
Ube2q2	A	G	9: 55,075,502 (GRCm39)	K104E	probably damaging	Het
Ube3a	C	T	7: 58,925,506 (GRCm39)		probably benign	Het
Usp11	T	C	X: 20,585,381 (GRCm39)	I785T	probably damaging	Het
Vmn2r22	A	T	6: 123,626,026 (GRCm39)	C137S	probably damaging	Het
Zfp281	T	C	1: 136,555,185 (GRCm39)	V721A	possibly damaging	Het
Zfp946	T	C	17: 22,672,469 (GRCm39)	S23P	probably damaging	Het
Zfyve1	A	G	12: 83,594,694 (GRCm39)	V766A	probably damaging	Het

Other mutations in Pdha2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Pdha2	APN	3	140,916,776 (GRCm39)	missense	possibly damaging	0.48
IGL02202:Pdha2	APN	3	140,916,412 (GRCm39)	missense	probably benign	0.27
R0352:Pdha2	UTSW	3	140,917,457 (GRCm39)	missense	probably benign
R1164:Pdha2	UTSW	3	140,917,260 (GRCm39)	missense	probably damaging	1.00
R1818:Pdha2	UTSW	3	140,916,960 (GRCm39)	nonsense	probably null
R3826:Pdha2	UTSW	3	140,916,889 (GRCm39)	missense	possibly damaging	0.94
R6002:Pdha2	UTSW	3	140,917,457 (GRCm39)	missense	probably benign
R8169:Pdha2	UTSW	3	140,917,155 (GRCm39)	missense	possibly damaging	0.94
R8672:Pdha2	UTSW	3	140,917,124 (GRCm39)	missense	probably damaging	1.00
R8975:Pdha2	UTSW	3	140,917,649 (GRCm39)	start gained	probably benign
R9141:Pdha2	UTSW	3	140,917,211 (GRCm39)	missense	probably damaging	1.00
R9322:Pdha2	UTSW	3	140,916,550 (GRCm39)	missense	probably benign	0.00

Posted On

2014-05-07