ZMP

pkd2

Ensembl ID:

ENSDARG00000014098

ZFIN ID:

ZDB-GENE-040827-4

Description:

polycystin-2 [Source:RefSeq peptide;Acc:NP_001002310]

Human Orthologue:

PKD2

Human Description:

polycystic kidney disease 2 (autosomal dominant) [Source:HGNC Symbol;Acc:9009]

Mouse Orthologue:

Pkd2

Mouse Description:

polycystic kidney disease 2 Gene [Source:MGI Symbol;Acc:MGI:1099818]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa18074	Essential Splice Site	Available for shipment	Available now
sa18283	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa18074

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
Order Allele From EZRC

Mutation:

T > G

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000020412	Essential Splice Site	135	904	1	14

Genomic Location (Zv9):

Chromosome 1 (position 51046742)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	1	49895833
GRCz11	1	50539659

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GCACAAGAGCACCGCAGCTGTGGGAAGAGGATACTGGAGAAAATGAGAGG[T/G]CAAACTTTTGCTTGTWTTGTYTTATTRAAGTGCTACTNNNNNAASCATTGTTACG

Long Flanking Sequence:

AATCGCTTTGCGCATTTTCGCATTAAGACAGAGTAAAAAGCGACTAAAATGCAGTCGTTTGTTTATATTAATGTAATGTTACTGTAGAAATACACGATGAGCTCCAGTCGCGTTCGTCCTCAAGCGCCGCAGAGCCCGGCGGCATCTGCATCCGCATCTCCTCCACCGCATGAAGGCATCGAGATGGAAAAAATGCATCATGAAGAAGTGGGCCTCGGAGTGCCCGATGAGACCCCCTCCTCTCCGCCAACCTCCAGCTCCAGACAGGCATGGAGCCGGGACAACCCAGGGTTCGAGCCGGAGGAGGGGATGATGGAGGCGGACTGGCCCCCGGAGAGTCAGGGCCGGAGGTCTGTGTCCACGACGTCCAGCAGCAGCAGCGGCGGCGTCCCGGGGAACTTCTCCGGTATCAGTGCGCGGATCAACAGAGGACTTTACCCGACTCCTCCAGCACAAGAGCACCGCAGCTGTGGGAAGAGGATACTGGAGAAAATGAGAGG[T/G]CAAACTTTTGCTTGTATTGTCTTATTGAAGTGCTACTAACCATTGTTACGAGTATTTAAAGGGATAGTTCACCGAAAAATGAAAATTCTGTTAGCATTAACTCACCCAATACTTGTTTCAAACCTGTAGGAGTTTCTTTCCTCTGTTAAACAAAATAGAAGATATTCTGAAAAAATGCTGAAAACCACTGCCATAGTATTTTTTATACTATGTTTGTAATCACAAGTTATGAGCTTTAAAATAGTGTTCAACAACTATGACAACTGAAAAAAAACTGCATTGGAAGTCAATGGTTACAGGTTTTTAGGATTTTTTTAAAATTAATACAGGTTTGAAAGTACTTGAGCGTAAGTAAATAGTGAGTAAATTCTTGTATTTTGGGTGAACTATATCTTTAATTCCTTAAACAACTAGCTTTGAAAGATAATTTGTGGTAAGTTTAAAATGCAAACAATAAATCACTTTACAAATGAAGTTTACTACAGTATATACTAAAACAT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa18283

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
Order Allele From EZRC

Mutation:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000020412	Nonsense	153	904	2	14

Genomic Location (Zv9):

Chromosome 1 (position 51048317)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	1	49897408
GRCz11	1	50541234

KASP Assay ID:

2259-1099.1 (used for ordering genotyping assays)

KASP Sequence:

GTGGGATACTCGTCTTTTGGGTGAGAGCAACAGTAACAGAGAGATGTACT[T/A]GAAAACSGTCCTGCGAGAAATGATCACCTACATCCTCTTCCTGCTCACCC

Long Flanking Sequence:

CTTATTATTAAAACAGCTATCATAGCATAACTATCATAACAGCTCTTTTTGGATTCTCGGAAGCTATAGAAATTAAAAATGTATAACAGCAAATACGTTGGGACTATTGTTTTTGTTCACATCCCTCAAAATGGTCTAAGCATATTTCATATTTTAAATATTGATTATTCATTGCATGCATCTGAACTAAATATTTTTAAAATAAATTTGTTTAAATGTACCCATGTCTAACTTGTATTGTAGATTGTATCCTACAGATGTCAGAAACTAAATTTATTTTTGTTAATTTACCATTAGCCTGCACATTCAATCTGTAAAAGATATATTTTAAAGGCATTAGAAAATCTGATAAACCATAAACATTTAAAGTTAGAGTGTGATTTTTTTTATATAGTCACTGATAAAAAATTGACAATTTTAACTGACATCTAATTTCTCTATTTCAGTGTTGTGGGATACTCGTCTTTTGGGTGAGAGCAACAGTAACAGAGAGATGTACT[T/A]GAAAACCGTCCTGCGAGAAATGATCACCTACATCCTCTTCCTGCTCACCCTCTGCATAAGTAGGTTGAAAACTACATGATAGAGTGATACCAGGCTCAAATTACACAACAACAGCTTCACGATTTCTTTATGATAGTGTCATTAAAGTGTCATTTTTCTCATTAAAGGTTCTGTGAAATTAAAATAATATATTTTTTTTTTAGATGTTTGAATCAGTATGTTAGTTTTAGGATATCTTTAAGCTAGTTGTGGATTTCTTCAGATGAGCAGTGCGATCTGATGAAGCAATATTTAGAGGTGAACTCGTTCCTTTCGAGTGCGCATGCGCATTAGATGCCAATTTTGCTTGATTAGAACGTTTAGAAAGGAAACTTATGAGACAGTTGTTGTTTAATTTTATTATTGTAATGTAATTGGCAAACAGTTTTAGAGAATTTGATGTTTTCTTTATTTAGACAGAATGCTTGACTATACTGCCCGAGAGGCATTTCAACGATGGC

Associated Phenotype:

Not determined