Busch Lab

ZMP

pax2a

Ensembl ID:
ENSDARG00000028148
ZFIN ID:
ZDB-GENE-990415-8
Description:
Paired box protein Pax-2a [Source:UniProtKB/Swiss-Prot;Acc:Q90268]
Human Orthologue:
PAX2
Human Description:
paired box 2 [Source:HGNC Symbol;Acc:8616]
Mouse Orthologue:
Pax2
Mouse Description:
paired box gene 2 Gene [Source:MGI Symbol;Acc:MGI:97486]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa11077 Essential Splice Site Available for shipment Available now
sa22324 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa11077
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:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000076992 Essential Splice Site 140 410 4 11
ENSDART00000076998 Essential Splice Site 136 391 4 10
ENSDART00000132004 None None 292 None 8
ENSDART00000133796 Essential Splice Site 126 375 3 9
ENSDART00000134330 Essential Splice Site 136 406 4 11
ENSDART00000134424 Essential Splice Site 136 292 4 8
ENSDART00000138332 Essential Splice Site 136 400 4 11
ENSDART00000139782 Essential Splice Site 126 396 3 10
ENSDART00000141310 Essential Splice Site 126 390 3 10
ENSDART00000144443 Essential Splice Site 126 381 3 9

The following transcripts of ENSDARG00000028148 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 13 (position 30001915)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 29647863
GRCz11 13 29778313
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCCAGCGAACCARCTGCACCTTCAACTCATTGTGTTCTTTYCCATTTYGT[A/G]GGATAATTCGAACCAAAGTTCAGCAGCCTTTYCACCCATCCTCCGACGGC
Long Flanking Sequence:
GTGAGGAGGAGGAGGAGGATAGAGGGAGAGATTGAGATAGATAAAGTAGAAGAGAGGGAGAGAGAGAAAGAGATTATTAAAGCTGAGGCCAGTTCGAGGCAGTGAAGCTCATCATTGAGGTGAATTGATGTGATTTCATGCTTTGTTTGCAAGATCATTCAGACCAAAGTGCAATGAAGACTTTCCCCCATATCACACCTTGGAGGTAGTGGGACTTTATCATATTTCTAAAGACGGGATCCCATTTGATTGAATCCACTCTCTCCACAGTAGCTCTCGCTCTGCCTCCATGATTGGCCCTAATACCCTAAGATTGGTTATTTTTGGCAGAAACAGCGCGTCTATGTAGGAAGGGCCCAAAACACACTAGACTTTTACACACACACACACACACACACACACACACACACACACACACAATGGGCGGCATGCAGAAGCTAACCGTTGCAAGCCAGCGAACCAGCTGCACCTTCAACTCATTGTGTTCTTTCCCATTTCGT[A/G]GGATAATTCGAACCAAAGTTCAGCAGCCTTTCCACCCATCCTCCGACGGCACAGGAACACCTCTTTCCACAGCGGGACACACTATAGGTGAGACACCATATATTATGCATATAAACATCAAGAATAAAAATCATAATGACATCAATTACGCCTGTGACCTAATGTTAATTCATTCTCTTTTAAGGTGATCTTGAGAGCACTCCATATACGTTAACCTATTCCTGTGCTCTTTCAGTGCCCAGCACAGCCTCCCCACCTGTGTCAAGCGCTTCCAATGACCCCGTGGGGTCCTACTCTATTAATGGCATCCTAGGAATCCCTCGCTCCAACGGCGAAAAGAGAAAACGTGATGATGGTAAGAGACTGGATTTCTCTCCATCGCTTTTATTCCCCTCTCACTCCTTTTCTAGGCCTCTCTACAGCCCCCTGTAATTTCCAATTTGTGTGGGGAGATGAAGATGGCATTTTGATAGCACTGGACAAAGCATTTTGTAAAAGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22324
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:
G > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000076992 Essential Splice Site 140 410 4 11
ENSDART00000076998 Essential Splice Site 136 391 4 10
ENSDART00000132004 None None 292 None 8
ENSDART00000133796 Essential Splice Site 126 375 3 9
ENSDART00000134330 Essential Splice Site 136 406 4 11
ENSDART00000134424 Essential Splice Site 136 292 4 8
ENSDART00000138332 Essential Splice Site 136 400 4 11
ENSDART00000139782 Essential Splice Site 126 396 3 10
ENSDART00000141310 Essential Splice Site 126 390 3 10
ENSDART00000144443 Essential Splice Site 126 381 3 9

The following transcripts of ENSDARG00000028148 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 13 (position 30001916)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 29647864
GRCz11 13 29778314
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCAGCGAACCAGCTGCACCTTCAACTCATTGTGTTCTTTCCCATTTCGTA[G/T]GATAATTCGAACCAAAGTTCAGCAGCCTTTCCACCCATCCTCCGACGGCA
Long Flanking Sequence:
TGAGGAGGAGGAGGAGGATAGAGGGAGAGATTGAGATAGATAAAGTAGAAGAGAGGGAGAGAGAGAAAGAGATTATTAAAGCTGAGGCCAGTTCGAGGCAGTGAAGCTCATCATTGAGGTGAATTGATGTGATTTCATGCTTTGTTTGCAAGATCATTCAGACCAAAGTGCAATGAAGACTTTCCCCCATATCACACCTTGGAGGTAGTGGGACTTTATCATATTTCTAAAGACGGGATCCCATTTGATTGAATCCACTCTCTCCACAGTAGCTCTCGCTCTGCCTCCATGATTGGCCCTAATACCCTAAGATTGGTTATTTTTGGCAGAAACAGCGCGTCTATGTAGGAAGGGCCCAAAACACACTAGACTTTTACACACACACACACACACACACACACACACACACACACACACAATGGGCGGCATGCAGAAGCTAACCGTTGCAAGCCAGCGAACCAGCTGCACCTTCAACTCATTGTGTTCTTTCCCATTTCGTA[G/T]GATAATTCGAACCAAAGTTCAGCAGCCTTTCCACCCATCCTCCGACGGCACAGGAACACCTCTTTCCACAGCGGGACACACTATAGGTGAGACACCATATATTATGCATATAAACATCAAGAATAAAAATCATAATGACATCAATTACGCCTGTGACCTAATGTTAATTCATTCTCTTTTAAGGTGATCTTGAGAGCACTCCATATACGTTAACCTATTCCTGTGCTCTTTCAGTGCCCAGCACAGCCTCCCCACCTGTGTCAAGCGCTTCCAATGACCCCGTGGGGTCCTACTCTATTAATGGCATCCTAGGAATCCCTCGCTCCAACGGCGAAAAGAGAAAACGTGATGATGGTAAGAGACTGGATTTCTCTCCATCGCTTTTATTCCCCTCTCACTCCTTTTCTAGGCCTCTCTACAGCCCCCTGTAATTTCCAATTTGTGTGGGGAGATGAAGATGGCATTTTGATAGCACTGGACAAAGCATTTTGTAAAAGAAA
Associated Phenotype:
Not determined