ZMP

ENSDARG00000088121

Ensembl ID:

ENSDARG00000088121

Human Orthologues:

AC092718.1, PKDREJ

Human Description:

polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea ur

Mouse Orthologues:

Pkd1l2, Pkd1l3, Pkdrej

Mouse Descriptions:

polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-li
polycystic kidney disease 1 like 2 Gene [Source:MGI Symbol;Acc:MGI:2664668]
polycystic kidney disease 1 like 3 Gene [Source:MGI Symbol;Acc:MGI:2664670]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa21132	Nonsense	Available for shipment	Available now
sa41072	Nonsense	Mutation detected in F1 DNA	Not yet available
sa41073	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa21132

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:

C > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000124969	Nonsense	63	702	2	15

Genomic Location (Zv9):

Chromosome 7 (position 69159320)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	7	67037341
GRCz11	7	67260989

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TGTTGATGTTTGTTGTCTTTCTCAGAGCTCTGTGATGGACACCAGGTTTG[C/A]ACGGCTGATGTTTCGTCTTTCGGAGAACCGTGTCCTGCGCTAGGAAGCTA

Long Flanking Sequence:

CTTTAAAATCACCACCTCACAAAGAATAAAGATGATTTTATGTGGTGCTTGCAATACGATGCTTAATATTTCAGACTTCTTTCTTTTCAACTGAATGCAGCGCAAACAAAATTAAATCTGAAATGTAAACAGACCTCCTTATTATTATTATTATTATTCCCTGAATGCCAAAGCTGAGTTTTTAAAACGACAGTACATTATTACTGATGCAAAGTAGGACAACAAACCATGCAGGACAAAAAGAGAGTGGCTACTAATGGACCTGCAAATATCTGCTAATTAGCTAAAATGTTTGAACTGTGAACACATATTGAGTAGGCTGTTTGCAGAGTTCATGTACTGCATTAATGTACTTTAGTACTGCTGTCGAAGGGCTTACAGTGACTGTTCTATTCTATGGCTTCATGCCTTGTTAATGTTGTTTGGTCTGGCTGGGGTAATAAATGCTTTTGTTGATGTTTGTTGTCTTTCTCAGAGCTCTGTGATGGACACCAGGTTTG[C/A]ACGGCTGATGTTTCGTCTTTCGGAGAACCGTGTCCTGCGCTAGGAAGCTACCTGTTGGTGGAATACAATTGCAAAGACAGTGAGAGCTGTTTATATATTGACTCTTTTGTATAGGTCTATTCACTTGCTGTATAAGGGATTCTCCGCCATGGGTAAATAACAAAATAATAAGGTAAATAGCAAAACTGTTTGCACTACAAATCATTGTGTTTACTATAGGCATTGTATAATGAATTAGAAGGGAATGATTTTATGCAAGAAAATAAATAAATCTACACTAAGGCGACGCAGTGGCGCAGTAGGTAGTGCTGTCGCCTCACAGCAAGAAGGTCTCTGGTTTTAGCCTCGGCTGGGTGAGTTGGCGTTTCTGTGTGGAGTTTGCATGTTCTCCCTGTGTACGCATGGGTTTCCTCCGGGTGCTCCGGTTAGGCTAAATTGTCTGTAGTGTGTGTGAATGAGTGTCTATGTGCTTCCCAAGTGAAGGGTTGCAGCTTAAAGGG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa41072

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
ENSDART00000124969	Nonsense	396	702	10	15

Genomic Location (Zv9):

Chromosome 7 (position 69179836)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	7	67057857
GRCz11	7	67281505

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

ACACCTGATCAGGAGCCTGCGGTCATCAGCACTACAAATCTTAACATCTA[T/A]GCCAACAGGTACGGACAATCAGAATACAAATCATATTTTTCATTAATGAA

Long Flanking Sequence:

AGGTAGGTTTTACAAATAACCTTGACATCTTTTTTAAAGTTGGTTACTAGCTTATCGACTAGCCCTGAGCAGTAGTCCTGAGCCCATATGGTGATGTCGCTTATATAAAGTGACGATTCTTAATGCAGTGTCGCCTGAAGGATCGGTATCTCACGTATTTGATGGCGATCCTCAGCCCATCTTTGGTCCTTAAGAACTAGACCTTTCTTGGATGCTGCTTTTGTCCCAAAAAAACCTCAAGGACTGTGCTGTCTCAGCTCATTTTAAATAAGTAGCTTGAACAAACAGCAAACTTTATTTTTTGAGTGTAGACCAGTGATCATGTTTTAAAACACATATTGAACAAGTCAGGCAATTTGCATAAGCATTCTCCTGGCCTTTCAGAGCGACATCACTAATTATCTGCTCAGCGCGGTGGACTCTGTGCACACTTTCCTGCTAGCGAATAAAACACCTGATCAGGAGCCTGCGGTCATCAGCACTACAAATCTTAACATCTA[T/A]GCCAACAGGTACGGACAATCAGAATACAAATCATATTTTTCATTAATGAAAAATTATTCCTGTTTTTGGTGTTTTGATTATTTCTCTGGTTAGGCTATCTCCACATAACCTTCAGAAAGAGCCTTTCGCAGTTGTAAACAGTTCAGCCAGCTTCAAGCTGCCAAACCTGGGCTCTGATATCCTGCCTGTGGGTGAACCAGTGGATGTAAAGGTGTGTATTAAACAAAAAAAAAACTCTAAAAATGATCAAATTAATTTATTAAGCATCATTTATGTGGCCTGTATTCGTTCTTTAATAGGATTTTTTATTTATGTGTTGTTGTTTTTTTTTTTTTTTTTTTTTTGAGGAAAACGGTTTAAAAAAAGTTATAACTGCTTTTTTTTCTAGCCAAAATCAAACAAATAAGGCTTTCTCCAGAAGAAAAAATATATAGGAAATACTGTACTGTGCTGATATATACACTTCCTCAAAAAAAGTCTAGTCATCGATCCCAGTTCGA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa41073

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
ENSDART00000124969	Essential Splice Site	399	702	10	15

Genomic Location (Zv9):

Chromosome 7 (position 69179845)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	7	67057866
GRCz11	7	67281514

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CAGGAGCCTGCGGTCATCAGCACTACAAATCTTAACATCTATGCCAACAG[G/A]TACGGACAATCAGAATACAAATCATATTTTTCATTAATGAAAAATTATTC

Long Flanking Sequence:

TTACAAATAACCTTGACATCTTTTTTAAAGTTGGTTACTAGCTTATCGACTAGCCCTGAGCAGTAGTCCTGAGCCCATATGGTGATGTCGCTTATATAAAGTGACGATTCTTAATGCAGTGTCGCCTGAAGGATCGGTATCTCACGTATTTGATGGCGATCCTCAGCCCATCTTTGGTCCTTAAGAACTAGACCTTTCTTGGATGCTGCTTTTGTCCCAAAAAAACCTCAAGGACTGTGCTGTCTCAGCTCATTTTAAATAAGTAGCTTGAACAAACAGCAAACTTTATTTTTTGAGTGTAGACCAGTGATCATGTTTTAAAACACATATTGAACAAGTCAGGCAATTTGCATAAGCATTCTCCTGGCCTTTCAGAGCGACATCACTAATTATCTGCTCAGCGCGGTGGACTCTGTGCACACTTTCCTGCTAGCGAATAAAACACCTGATCAGGAGCCTGCGGTCATCAGCACTACAAATCTTAACATCTATGCCAACAG[G/A]TACGGACAATCAGAATACAAATCATATTTTTCATTAATGAAAAATTATTCCTGTTTTTGGTGTTTTGATTATTTCTCTGGTTAGGCTATCTCCACATAACCTTCAGAAAGAGCCTTTCGCAGTTGTAAACAGTTCAGCCAGCTTCAAGCTGCCAAACCTGGGCTCTGATATCCTGCCTGTGGGTGAACCAGTGGATGTAAAGGTGTGTATTAAACAAAAAAAAAACTCTAAAAATGATCAAATTAATTTATTAAGCATCATTTATGTGGCCTGTATTCGTTCTTTAATAGGATTTTTTATTTATGTGTTGTTGTTTTTTTTTTTTTTTTTTTTTTGAGGAAAACGGTTTAAAAAAAGTTATAACTGCTTTTTTTTCTAGCCAAAATCAAACAAATAAGGCTTTCTCCAGAAGAAAAAATATATAGGAAATACTGTACTGTGCTGATATATACACTTCCTCAAAAAAAGTCTAGTCATCGATCCCAGTTCGATAAGAGCAA

Associated Phenotype:

Not determined