ZMP

ptcd2

Ensembl ID:

ENSDARG00000035391

ZFIN IDs:

ZDB-GENE-050417-82, ZDB-GENE-050417-82

Description:

Pentatricopeptide repeat-containing protein 2 [Source:UniProtKB/Swiss-Prot;Acc:Q566X6]

Human Orthologue:

PTCD2

Human Description:

pentatricopeptide repeat domain 2 [Source:HGNC Symbol;Acc:25734]

Mouse Orthologue:

Ptcd2

Mouse Description:

pentatricopeptide repeat domain 2 Gene [Source:MGI Symbol;Acc:MGI:1916177]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa6058	Nonsense	Mutation detected in F1 DNA	Not yet available
sa20470	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa6058

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:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000051279	Nonsense	254	381	8	10
ENSDART00000114981	Nonsense	254	381	8	10

Genomic Location (Zv9):

Chromosome 5 (position 36876769)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	5	34658718
GRCz11	5	35258871

KASP Assay ID:

554-3933.1 (used for ordering genotyping assays)

KASP Sequence:

GAATCTATTTTGTGGTTKTAGAATGATCTAGAAAGAGCCCAGATCTTCTA[T/A]TCTCACATCATGAGCACAGGGACTCGGCTATGCCAGAACCTGAGGGTAAG

Long Flanking Sequence:

CCAAAAACTAGTACACCCAAATTTACGTTATAAAAAATATTAAATACAAATTTAAAAAGAGGAAAAATCAAGAGAAGCAAGAAAAAAAATGTAAAATTGTGTTGAAATTTTGTAGGTTGTAAATTTTTTAGCTTGAATTTAATTGTATTTTTTTTTCAATTTGTAAACGTTTGATGACTTAAATATTATTTTAATAAATATATCTGTTTAATAAATCTGATGTTTAAATGCACCAAAATACATTGCCCATATTCACTGAGAAATTGATAAAAATATTCATAATGGCGTGTACTCAATTATGCTGAGCACTGTACACACATTTTGTATGGTACAGTATATGATGCCATATGTCGTGCGTTGATTGATCTAACATCACATTTTAGTATCTAAATGGCATTTGGATGTCACTGAATCATCACAGATGGTGGTGCATCATGCTATATTTACAGTGAATCTATTTTGTGGTTGTAGAATGATCTAGAAAGAGCCCAGATCTTCTA[T/A]TCTCACATCATGAGCACAGGGACTCGGCTATGCCAGAACCTGAGGGTAAGTGTGGCTTATATGTAAATCTTCAGTCTTGACAAAAAGAGTTTGCATACTAAAAGTGTAAGCGCTCTCTTTTCAGGTTTTCATATTGGCTGTAAAAGGGTCCATGAAAGAGGCAGTTTATGTCCTCAAAACAGCCAGAATATCAGAGACTCCAGTGCTGGTGAGGAAACCAGAGTTTTCTCGAGAAGTGGTAAGATATCAACTACACCAGTCGAGTCTCCACACACGTACTCTACTTATTCTTCAGTGAATTATCGACACACAATGAATTATGGACACAACAGTATTAGCGATACACTGTAAAAACCCCACAGTCAACTTTGTCGAATGAAATGAGTGTAGTTAACTGAACTGACTGAAAGTTAATTCTACTCATTTGAAAAGAGTTTTGAACTCAGTAAAGGTAATTAGTTAATCAAGTGCCTCATTACTTTAAATAGAGTTCACAGTAC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa20470

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Order Allele From ZIRC

Mutation:

T > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000051279	Essential Splice Site	307	381	9	10
ENSDART00000114981	Essential Splice Site	307	381	9	10

Genomic Location (Zv9):

Chromosome 5 (position 36876529)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	5	34658478
GRCz11	5	35258631

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

ATCAGAGACTCCAGTGCTGGTGAGGAAACCAGAGTTTTCTCGAGAAGTGG[T/A]AAGATATCAACTACACCAGTCGAGTCTCCACACACGTACTCTACTTATTC

Long Flanking Sequence:

CATTGCCCATATTCACTGAGAAATTGATAAAAATATTCATAATGGCGTGTACTCAATTATGCTGAGCACTGTACACACATTTTGTATGGTACAGTATATGATGCCATATGTCGTGCGTTGATTGATCTAACATCACATTTTAGTATCTAAATGGCATTTGGATGTCACTGAATCATCACAGATGGTGGTGCATCATGCTATATTTACAGTGAATCTATTTTGTGGTTGTAGAATGATCTAGAAAGAGCCCAGATCTTCTATTCTCACATCATGAGCACAGGGACTCGGCTATGCCAGAACCTGAGGGTAAGTGTGGCTTATATGTAAATCTTCAGTCTTGACAAAAAGAGTTTGCATACTAAAAGTGTAAGCGCTCTCTTTTCAGGTTTTCATATTGGCTGTAAAAGGGTCCATGAAAGAGGCAGTTTATGTCCTCAAAACAGCCAGAATATCAGAGACTCCAGTGCTGGTGAGGAAACCAGAGTTTTCTCGAGAAGTGG[T/A]AAGATATCAACTACACCAGTCGAGTCTCCACACACGTACTCTACTTATTCTTCAGTGAATTATCGACACACAATGAATTATGGACACAACAGTATTAGCGATACACTGTAAAAACCCCACAGTCAACTTTGTCGAATGAAATGAGTGTAGTTAACTGAACTGACTGAAAGTTAATTCTACTCATTTGAAAAGAGTTTTGAACTCAGTAAAGGTAATTAGTTAATCAAGTGCCTCATTACTTTAAATAGAGTTCACAGTACTTATATAGATTAGTTTTGTAACTCTAATGGTTTTTAGCAATCGGTTTCCTCAAACGGTTTGAGTTTCTTTAACTTACTGGGTTTTACAGTAATACAGTTCACAGTACTGATTTGGATTAGTTTTTGAACTTAAATGGTTTGTTGCAACCGATTTCCTCAAATGGTTTGAGTTACCTTAACTTTTTATGTTTTACTGTGTATAAAACAAAAGTAGTGATATAAAGCTCAAAAGTAGCTGCC

Associated Phenotype:

Not determined