ZMP

pkd2l1

Ensembl ID:

ENSDARG00000022503

ZFIN ID:

ZDB-GENE-030616-558

Description:

Novel protein similar to human polycystic kidney disease 2-like 1 (PKD2L1) [Source:UniProtKB/TrEMBL;

Human Orthologue:

PKD2L1

Human Description:

polycystic kidney disease 2-like 1 [Source:HGNC Symbol;Acc:9011]

Mouse Orthologue:

Pkd2l1

Mouse Description:

polycystic kidney disease 2-like 1 Gene [Source:MGI Symbol;Acc:MGI:1352448]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa22300	Essential Splice Site	Available for shipment	Available now
sa42207	Nonsense	Mutation detected in F1 DNA	Not yet available
sa6303	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa22300

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 > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000002415	Essential Splice Site	166	805	3	15
ENSDART00000145948	Essential Splice Site	151	790	3	15

Genomic Location (Zv9):

Chromosome 13 (position 25681546)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	13	25327206
GRCz11	13	25457656

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CAACGGCATGAGCTTCTCCTCCATTGGCTGCATGAATGATGTCTGGACGG[T/C]GAGCTTGAGCTGCTTTTCTTGTTCCCTGGTAAAAAGAAAAGGCAAAGGGA

Long Flanking Sequence:

ACGTCTTGCCATTCTCTTGCCCTCTATTATGATCAAAGATAAAGTGCTGGTTATAAAAGTCCCCTGTGTTAAAACACACCATTGTCCATGGCAAAATCAGGCCTGAAAGGAGCACAACCAGAATCCTGCTGTCTTTTACTGATAAGAGCTCAGGTCAGGCAATTGAGGTTTTGTTTGTGCTGGAGCAGCATTGTTGAATGGGGCTGTTTTTGTGTGTTCAAACAAACACTCTTGGCCACTTTCATGACGTTAACGCTGCTAATGGATGAGCGCTGAATGAATCGATTTGCTTTATTTATCTGCGTGAGTGTGGATAGATGGATGGATGGATGGTGTGGTTCAGTACGTGATGTGATTGCTTTAACATGCAGTGACCTACGGCATGACCAGCAGCGCCACCTACTACTACACTAAAGCCATGACGGATCTGTTTGTGAATCTGCCGGGCAGCAACGGCATGAGCTTCTCCTCCATTGGCTGCATGAATGATGTCTGGACGG[T/C]GAGCTTGAGCTGCTTTTCTTGTTCCCTGGTAAAAAGAAAAGGCAAAGGGAAATATGTGTAAAGATATTTAAATATTGAAAAATTGTTGGAAATCTTTCTTTTTTTAATAAATAGAGTATATTATACTCAATCACAAAAATGTTAACTTTTTTCAAATATTATAGTTTTTGTTTAATTTATTTTCCTAAAAATATTATATTTTAAAATGTTACAAATACAATAGAAAAATTTATTCTAAATAATACTGGTTTTATTTTATGTAATTTTTATTGAAGTCAGAATTATTAGCCCCCATTTTAATAGTTTTTTATTTTTTAAAAATTTCCCAAATTATGTTTAACAGAGCAAGGAAATTTTCTAAGTATGGCTGATAATATTTTTTTCTTCTGGAGAAAGTCTTATTTGTTTTTATTTGGCTAAAATAAAAGCCATTTTTAATTTTTTAAAAAACATTTTAAGGTCAAAATTATTAGCCCATTTAAGCTATTTTTTTCTTCGAT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa42207

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
ENSDART00000002415	Nonsense	341	805	6	15
ENSDART00000145948	Nonsense	326	790	6	15

Genomic Location (Zv9):

Chromosome 13 (position 25687072)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	13	25332732
GRCz11	13	25463182

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TTTAGATTAGTGGTTGAGTTTCCAGCTACCGGTGGAGCGATTCCATCCTA[T/A]CAGATCCGCACTGTGAAGCTGATTCGTTATGTCACCACCTGGGACTACTT

Long Flanking Sequence:

TAAATTGCTACATAAAATTTATTGAACTAAATTAATACTATTTATATTTAAAAGTTATACTTCATAATATGAAATTTTTGTTTAATATTATATTGTTATATTTTTATTAATTTGTTTAGTAAGCTTATTTCTTTTTTTATTTTTAAATAGTAAATATAAAAATAAATATTAATGGAAATAAATGTGAAATTGTGATTTTAATAATAATAATAATAATAATAATAAATTGCTGGATTGTATTAACCTAGTGTTGGGTAAAATATGGACAAACCCAATGTTAGATTTGTTTTTACATTCAATTTAAATTACATTTTTAAGCCAACTGTTTGGTTTGTTCATTTATGAGCAAGCGTTGGGTCAATACAACCCAGCATTTTTACAGTATATTATTATTATTATTACTTTTCAAATTATAGAACAAAAGTATTTTTAAGAATCTTATCTTGTTTCTTTAGATTAGTGGTTGAGTTTCCAGCTACCGGTGGAGCGATTCCATCCTA[T/A]CAGATCCGCACTGTGAAGCTGATTCGTTATGTCACCACCTGGGACTACTTCATCATCGGCTGTGAGATCGTCTTCTGTGTTTTCATCTTATATTACATCGTGGAGGAGATTCTGGAATTTCGTATCCACAAACTTTCCCATTTTACCAGTATCTGGAATATCCTGGACATAGTGGTGATACTGGTAAAAAAAAAACATCAAATTACCATCAAATATTAAGTTGCATCAAGCCATTTTCTAGTCAAATTCATAGAAACGATCCCTATACTTTGACCTGGTTATTTTAACAGTAACTGTGGGCTCTTTTGTACAGCTTGCTGTGGTGGCAATTGTTTTCAGTGCATTTCGGACCATCAAAGTGGATGGATTACTCGGAAACCTTCTGAAACAACCAGACATCTATGCTGATTTTGAATTTTTGGCATTTTGGCAAACCCAGTACAACAACATGAATGCAGTCAATTTGTTTTTTGCTTGGATTAAGGTAATGTTTTCAAATC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa6303

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:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000002415	Essential Splice Site	673	805	12	15
ENSDART00000145948	Essential Splice Site	658	790	12	15

Genomic Location (Zv9):

Chromosome 13 (position 25692251)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	13	25337911
GRCz11	13	25468361

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

AGACAAGCAGGAGCAGGAGAACAWGAAGCAGGAGCTGGAGGAGAAAAGGG[T/A]AWGTTTGTTTAATTTAGCTAGTTAGWRTTGATGGATGACACTGATTTWGA

Long Flanking Sequence:

CCTCTTGCCCTGCTAATGGGAGAGAGCCCAGGGCTCAAGGATCTTATGAGCTCAGAGCTCTCTCCCGGGACAGCATCCCAAACATGCTAATTATTAGCTAAGTGTGAACTCTTGAAGTAGTTTTATTCATTTTTTGAGTTAAGTTGACACCAGGAACATTTCAATAAGTGGGAAATATTGTAAACAATAAAATTTAATATACATCTAGATAATTGATGTGCATTATTGACTATTTCTCCCTAAACTCTAAACACATTACAGTATTGTTTATGGACATAAAAACAGGTAGTAATTGATGTTCTAGTTATTATTCAGGTCAAATTAAAACATTCAAGTATAATGCAGAAGTCCTGTTTTCTGGTTGTGTGTCCTGCGTGTCAGGATGGGTCACAGTGACCGAGAGATCTCAGCCGCTTTCTCCAAATTCGACCAGGATGGAAACCAGACTTTAGACAAGCAGGAGCAGGAGAACATGAAGCAGGAGCTGGAGGAGAAAAGGG[T/A]ATGTTTGTTTAATTTAGCTAGTTAGTGTTGATGGATGACACTGATTTTGATTTTTATTGTGCATTTTTATGCTCAGGATGCTCTCAGTGCAGAGCTGCGTGACCTCGAGAACAGTGTGGAACCAGCAGAGGAACACAGAAACACTGTTCCTCCAGAGGACTATCAGAGGTTTGTGTTCAGAGTGTAATTCCTCAACATGTTCAGTGTTATTCTGCTATTGTTTATTTCTGTATTATTATAGTATTCAGAATTATTTTCAGTTTATTTTCATATTTTCAGTTTTAATCTTGGTATGTTTTCAAGTAAAACCAGAATACTTTTTTGTTTTTTCTGTTCAATAGATTTTAGAGGCCTGAAAATGGAAAGATTTTGATAATTTTTTATCCATTGTTTGTTTAAACTACTAACATGCTTTTCTTTGGCAGGACATTTAAAGAAAAAGGTCAACAAATATATTTTTTTAAATGATCCTTTTTAAATTCAACCTTTAGTCACTTTTA

Associated Phenotype:

Not determined