ZMP

PDPR

Ensembl ID:

Description:

pyruvate dehydrogenase phosphatase regulatory subunit [Source:HGNC Symbol;Acc:30264]

Human Orthologues:

AC009053.1, PDPR

Human Descriptions:

pyruvate dehydrogenase phosphatase regulatory subunit [Source:HGNC Symbol;Acc:30264]
pyruvate dehydrogenase phosphatase regulatory subunit pseudogene (LOC283922), non-coding RNA [Source

Mouse Orthologue:

Pdpr

Mouse Description:

pyruvate dehydrogenase phosphatase regulatory subunit Gene [Source:MGI Symbol;Acc:MGI:2442188]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa23394	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa23394

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000037042	Essential Splice Site	691	885	15	17

Genomic Location (Zv9):

Chromosome 18 (position 49804955)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	50960884
GRCz11	18	50841422

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GCATGACACACACAGGAGAGCCGGGGTTCATGCTGTATATTCCCATTGAG[G/A]TCAGTCACACACTCACACCTGCAGCATCACCTGCTGATCTAGATCATCAT

Long Flanking Sequence:

TCCAGCTTCTTCATCATCTCTCCCACTGATCAGCAAGTGCACTGCTGGTCCTGGATGAAGCAGCACATGCCGAGCGACCCGCAGCTCCACCTGGAGGACGTCAGCTGGAAGTACACAGGTCAGCAGGTGTCCGTCAGGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCACCTGATGCTGTAACCTTTATCATGTTTCCTTCAGCGCTGAATCTGATTGGTCCTCGAGCCATGGATGTGCTGTCCGAACTCTCGTATGTGTCCATGACTCCAGAGCACTTCCCTTCGCTCTTCTGTAAGGTGAGACGCCTGTGTGCTGTGTGGTCATGTGACGTCTCCTGTGTGGTCATGTGATGTCTCCTGTGTGGTCGTGTGACGTCACCTGAGTGTGTGTGTGTGTGTTTTGCAGGAAATGAGCGTGGGCTACGCTAACGGCATCAGAGTGATGAGCATGACACACACAGGAGAGCCGGGGTTCATGCTGTATATTCCCATTGAG[G/A]TCAGTCACACACTCACACCTGCAGCATCACCTGCTGATCTAGATCATCATCATCTGCACACACACACACACACACACACACACTCAGAGCGGTTGTGACTCGGTGATTCTGCTTTCCCAGTATGCACTGCACGTGTATAATGAGGTGATGTCGGTGGGCCAGAAGTACGGCATCCGCAACGCCGGCTACTACGCTCTGCGGAGTCTGCGCATCGAGAAGTTCTTTGCGTTCTGGGGTCAGGATCTGGACTCGTTCACCACACCGCTGGAGTGCGGACGCGAGTTCAGGGTCAAGTTTGACAAGGTCAGTGTTTCAGACGGACATCCCTCTGTAGCAGTTACCCACAATGCAACACAAGAGAGCGCTGCGACTGCAGGAGGAACGGCTGATCTCATGCCCTTACCACTGCAGACCCTGATCCTGACCTTAACCCTGACCCTGACCCTAACCCTCTAAAAAGTCTGCTCACCTACAACTCTGTGTGTGTGTGTGTGTGTGTG

Associated Phenotype:

Not determined