Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02243:Pdp1'

286056

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pdp1

Ensembl Gene

ENSMUSG00000049225

Gene Name

pyruvate dehydrogenase phosphatase catalytic subunit 1

Synonyms

LOC381511, Ppm2c

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02243

Quality Score

Status

Chromosome

Chromosomal Location

11958183-11966450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11961873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 146 (V146D)

Ref Sequence

ENSEMBL: ENSMUSP00000103937 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056050] [ENSMUST00000095144] [ENSMUST00000108297] [ENSMUST00000108299] [ENSMUST00000108301] [ENSMUST00000108302]

AlphaFold

Q3UV70

Predicted Effect

probably benign
Transcript: ENSMUST00000056050
AA Change: V106D

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000050521
Gene: ENSMUSG00000049225
AA Change: V106D

Domain	Start	End	E-Value	Type
PP2Cc	99	523	3.36e-97	SMART
PP2C_SIG	177	525	2.77e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095144
AA Change: V131D

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000092766
Gene: ENSMUSG00000049225
AA Change: V131D

Domain	Start	End	E-Value	Type
PP2Cc	124	548	3.36e-97	SMART
PP2C_SIG	202	550	2.77e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108297
AA Change: V106D

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000103932
Gene: ENSMUSG00000049225
AA Change: V106D

Domain	Start	End	E-Value	Type
PP2Cc	99	523	3.36e-97	SMART
PP2C_SIG	177	525	2.77e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108299
AA Change: V131D

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103934
Gene: ENSMUSG00000049225
AA Change: V131D

Domain	Start	End	E-Value	Type
PP2Cc	124	548	3.36e-97	SMART
PP2C_SIG	202	550	2.77e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108301
AA Change: V165D

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000103936
Gene: ENSMUSG00000049225
AA Change: V165D

Domain	Start	End	E-Value	Type
low complexity region	11	18	N/A	INTRINSIC
PP2Cc	158	582	3.36e-97	SMART
PP2C_SIG	236	584	2.77e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108302
AA Change: V146D

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103937
Gene: ENSMUSG00000049225
AA Change: V146D

Domain	Start	End	E-Value	Type
PP2Cc	139	563	3.36e-97	SMART
PP2C_SIG	217	565	2.77e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146154

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154194

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pyruvate dehydrogenase (E1) is one of the three components (E1, E2, and E3) of the large pyruvate dehydrogenase complex. Pyruvate dehydrogenase kinases catalyze phosphorylation of serine residues of E1 to inactivate the E1 component and inhibit the complex. Pyruvate dehydrogenase phosphatases catalyze the dephosphorylation and activation of the E1 component to reverse the effects of pyruvate dehydrogenase kinases. Pyruvate dehydrogenase phosphatase is a heterodimer consisting of catalytic and regulatory subunits. Two catalytic subunits have been reported; one is predominantly expressed in skeletal muscle and another one is is much more abundant in the liver. The catalytic subunit, encoded by this gene, is the former, and belongs to the protein phosphatase 2C (PP2C) superfamily. Along with the pyruvate dehydrogenase complex and pyruvate dehydrogenase kinases, this enzyme is located in the mitochondrial matrix. Mutation in this gene causes pyruvate dehydrogenase phosphatase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apc2	A	G	10: 80,138,175 (GRCm39)	Y87C	probably damaging	Het
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Brsk2	T	C	7: 141,547,036 (GRCm39)	F493S	probably damaging	Het
Cd19	T	C	7: 126,009,965 (GRCm39)		probably null	Het
Cfap91	T	C	16: 38,162,142 (GRCm39)		probably benign	Het
Chd2	T	C	7: 73,147,456 (GRCm39)		probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Ddx19a	T	G	8: 111,703,088 (GRCm39)	I450L	probably benign	Het
Edn2	G	A	4: 120,019,229 (GRCm39)		probably null	Het
Elp2	G	A	18: 24,755,663 (GRCm39)	R470Q	probably benign	Het
Fhdc1	T	G	3: 84,381,947 (GRCm39)	M1L	possibly damaging	Het
Gba2	A	T	4: 43,568,719 (GRCm39)	I619N	probably benign	Het
Glce	A	G	9: 61,977,422 (GRCm39)	F154S	probably damaging	Het
Gm3476	A	T	14: 6,122,811 (GRCm38)	C195*	probably null	Het
Hsp90aa1	A	G	12: 110,661,525 (GRCm39)	S164P	probably damaging	Het
Iqcg	T	C	16: 32,865,962 (GRCm39)	D127G	probably damaging	Het
Jag2	G	A	12: 112,879,965 (GRCm39)	T381I	possibly damaging	Het
Krt16	A	T	11: 100,137,162 (GRCm39)		probably benign	Het
Lhx2	T	A	2: 38,243,531 (GRCm39)		probably benign	Het
Lrrc2	A	T	9: 110,799,125 (GRCm39)	N158I	probably damaging	Het
M1ap	C	T	6: 83,003,269 (GRCm39)	P389S	probably damaging	Het
Masp2	A	T	4: 148,687,525 (GRCm39)	D104V	probably benign	Het
Met	G	A	6: 17,549,093 (GRCm39)	V982I	probably damaging	Het
Msh2	T	A	17: 87,985,796 (GRCm39)		probably benign	Het
Myh9	A	G	15: 77,651,682 (GRCm39)	L1509P	probably damaging	Het
Mylk2	A	G	2: 152,762,473 (GRCm39)	H554R	probably damaging	Het
Oxr1	T	G	15: 41,399,097 (GRCm39)		probably benign	Het
Pdzrn4	A	T	15: 92,668,577 (GRCm39)	M910L	probably benign	Het
Prl2a1	T	C	13: 27,991,400 (GRCm39)		probably benign	Het
Rapgef6	C	T	11: 54,567,226 (GRCm39)	P1136S	probably damaging	Het
Rasgef1c	A	T	11: 49,848,217 (GRCm39)	S69C	possibly damaging	Het
Rnaseh1	C	T	12: 28,705,631 (GRCm39)	R152W	probably damaging	Het
Sele	T	C	1: 163,880,537 (GRCm39)	V373A	probably benign	Het
Tmem67	G	A	4: 12,070,584 (GRCm39)	S314L	possibly damaging	Het
Traf4	T	C	11: 78,051,343 (GRCm39)	E271G	probably benign	Het
Trim39	T	C	17: 36,571,276 (GRCm39)	D494G	probably damaging	Het
Virma	G	A	4: 11,546,031 (GRCm39)	R1673Q	probably damaging	Het

Other mutations in Pdp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02643:Pdp1	APN	4	11,962,062 (GRCm39)	missense	probably benign
R1931:Pdp1	UTSW	4	11,962,074 (GRCm39)	missense	probably benign	0.01
R2162:Pdp1	UTSW	4	11,961,123 (GRCm39)	missense	probably damaging	0.98
R2418:Pdp1	UTSW	4	11,961,838 (GRCm39)	missense	probably damaging	0.98
R3843:Pdp1	UTSW	4	11,961,961 (GRCm39)	missense	probably benign	0.00
R5699:Pdp1	UTSW	4	11,960,907 (GRCm39)	missense	possibly damaging	0.79
R6479:Pdp1	UTSW	4	11,961,327 (GRCm39)	missense	probably damaging	1.00
R7221:Pdp1	UTSW	4	11,961,004 (GRCm39)	missense	probably damaging	0.99
R7263:Pdp1	UTSW	4	11,960,821 (GRCm39)	missense	possibly damaging	0.82
R8483:Pdp1	UTSW	4	11,961,982 (GRCm39)	missense	probably benign
R9184:Pdp1	UTSW	4	11,962,143 (GRCm39)	missense	possibly damaging	0.80
R9712:Pdp1	UTSW	4	11,961,607 (GRCm39)	missense	probably benign	0.41
Z1177:Pdp1	UTSW	4	11,961,639 (GRCm39)	missense	possibly damaging	0.67

Posted On

2015-04-16