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
sa24936 Nonsense Mutation detected in F1 DNA Not yet available

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

Mutation Details

Allele Name:
sa24936
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000076992 Nonsense 143 410 4 11
ENSDART00000076998 Nonsense 139 391 4 10
ENSDART00000132004 None None 292 None 8
ENSDART00000133796 Nonsense 129 375 3 9
ENSDART00000134330 Nonsense 139 406 4 11
ENSDART00000134424 Nonsense 139 292 4 8
ENSDART00000138332 Nonsense 139 400 4 11
ENSDART00000139782 Nonsense 129 396 3 10
ENSDART00000141310 Nonsense 129 390 3 10
ENSDART00000144443 Nonsense 129 381 3 9

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

Genomic Location (Zv9):
Chromosome 13 (position 30001924)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 29647872
GRCz11 13 29778322
KASP Assay ID:
554-7776.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCAGCTGCACCTTCAACTCATTGTGTTCTTTCCCATTTCGTAGGATAATT[C/T]GAACCAAAGTTCAGCAGCCTTTCCACCCATCCTCCGACGGCACAGGAACA
Long Flanking Sequence:
AGGAGGAGGATAGAGGGAGAGATTGAGATAGATAAAGTAGAAGAGAGGGAGAGAGAGAAAGAGATTATTAAAGCTGAGGCCAGTTCGAGGCAGTGAAGCTCATCATTGAGGTGAATTGATGTGATTTCATGCTTTGTTTGCAAGATCATTCAGACCAAAGTGCAATGAAGACTTTCCCCCATATCACACCTTGGAGGTAGTGGGACTTTATCATATTTCTAAAGACGGGATCCCATTTGATTGAATCCACTCTCTCCACAGTAGCTCTCGCTCTGCCTCCATGATTGGCCCTAATACCCTAAGATTGGTTATTTTTGGCAGAAACAGCGCGTCTATGTAGGAAGGGCCCAAAACACACTAGACTTTTACACACACACACACACACACACACACACACACACACACACACAATGGGCGGCATGCAGAAGCTAACCGTTGCAAGCCAGCGAACCAGCTGCACCTTCAACTCATTGTGTTCTTTCCCATTTCGTAGGATAATT[C/T]GAACCAAAGTTCAGCAGCCTTTCCACCCATCCTCCGACGGCACAGGAACACCTCTTTCCACAGCGGGACACACTATAGGTGAGACACCATATATTATGCATATAAACATCAAGAATAAAAATCATAATGACATCAATTACGCCTGTGACCTAATGTTAATTCATTCTCTTTTAAGGTGATCTTGAGAGCACTCCATATACGTTAACCTATTCCTGTGCTCTTTCAGTGCCCAGCACAGCCTCCCCACCTGTGTCAAGCGCTTCCAATGACCCCGTGGGGTCCTACTCTATTAATGGCATCCTAGGAATCCCTCGCTCCAACGGCGAAAAGAGAAAACGTGATGATGGTAAGAGACTGGATTTCTCTCCATCGCTTTTATTCCCCTCTCACTCCTTTTCTAGGCCTCTCTACAGCCCCCTGTAATTTCCAATTTGTGTGGGGAGATGAAGATGGCATTTTGATAGCACTGGACAAAGCATTTTGTAAAAGAAAAAAGCGCT
Associated Phenotype:
Not determined