Busch Lab

ZMP

PHKA2

Ensembl ID:
ENSDARG00000030687
Description:
phosphorylase kinase, alpha 2 (liver) [Source:HGNC Symbol;Acc:8926]
Human Orthologue:
PHKA2
Human Description:
phosphorylase kinase, alpha 2 (liver) [Source:HGNC Symbol;Acc:8926]
Mouse Orthologue:
Phka2
Mouse Description:
phosphorylase kinase alpha 2 Gene [Source:MGI Symbol;Acc:MGI:97577]

Alleles

There are 7 alleles of this gene:

Allele Name Consequence Status Availability
sa14109 Nonsense Available for shipment Available now
sa21943 Essential Splice Site Available for shipment Available now
sa10546 Nonsense Available for shipment Available now
sa16397 Essential Splice Site Available for shipment Available now
sa11966 Essential Splice Site Available for shipment Available now
sa45433 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa14109
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
T > G
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000078202 Nonsense 240 1161 9 32
Genomic Location (Zv9):
Chromosome 11 (position 34739205)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 33640142
GRCz11 11 33902944
KASP Assay ID:
2260-4502.1 (used for ordering genotyping assays)
KASP Sequence:
GTCTGCTTTTTCATTTCATGKTTAKAACAGGACCCYACTYGAYTTCACTA[T/G]GACCCTGCCGAGCTGAAGCTCTTTGARAACATTGAATGTGAATGGCCAGT
Long Flanking Sequence:
TGCAAAACACTGTACCTCCTGGGATGTATTTTGCCATCACCAAAAATGTATATAGGGCTACGTTTTCAGAATGAGCCTGTGTTGCATATTTCAATGTTTATTTTTTTTTTTTAAAGTAAAAACACTTTTATGAGGGAACAAAAAAAATTGCCGGAATACATGAGGTTTTTTAAATAAACACAATTATTTTGTGAGGAAGCATTAAAATATAAATTTCCCATCTCATGTCCTCTTAGCATCTCTGCAGTTCCCTTCTGTGGTTGCTAGTTTTATTGCAAGTTTAATCATCGATTTCAATTATTTTAGGGACGTTATGGCTGTTGTCGATTTATCCGAGATGGATACAGGACTCCAAAAGAGGTAACCAGATATAACTTGAATTTACACACACACACAAAGTAATAATAAATTGGCAATAATAAGTAATAATTATTTTGTGACCAGTTCTCTGTCTGCTTTTTCATTTCATGTTTATAACAGGACCCTACTCGACTTCACTA[T/G]GACCCTGCCGAGCTGAAGCTCTTTGAGAACATTGAATGTGAATGGCCAGTGTTTTGGACTTATCTAATACTCGATGGCATCTTCAATGCAGATCATGAACAGGTATGAAAATAATCATCTGTATACTCTGAAAGCATCTGCAGTACATCTGAGGGGAAAAATTATGGGATATTTCCCCCCAAAAATGAAAATTTGAGTATATTAGTAAATTTTTGGGTGAACTATCTTTTATCTCCAGATGGAGGCAGTGTAGCAATGATTGATGGCTGTGCTGTTCCTCATAGGTGGAGGAATACAGAGAGGCTCTGGATGGGGTTTTGATCAGGGGCAAACATGGTATCCGTCTGGTGCCTGAACTCTACGCTGTACCTGCTGACAAAGTGAGTTTAACTTTTTAAACTAGCACAGGAACTCCTTTTATATTTAATTACATGCAATGGTATTGTAATAGGTTCACAATAAAGTGAGCGAGATTGAATTAAAGTGCTGATTTGAGGGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21943
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000078202 Essential Splice Site 413 1161 13 32
Genomic Location (Zv9):
Chromosome 11 (position 34736585)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 33637522
GRCz11 11 33900324
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATCCGGGTTATGCCAGCTCGCATCCTGAGCCACATTTATGTGAAACTGG[G/A]TGAGTGTTCAGATCCAGATGGCGTAAATGAGGATATCTGTGAAATTTAGA
Long Flanking Sequence:
TATTTTTTATTTGTTTGTAAAGCCCTCATACTGTACAGACACATGGCTTTTTGTAAAATATTTAAAACTATTTCATTATTTCATTTAATGTTTAATTTACAGCAGTTTTTGTTAGAGTTTTTACTCTGAAAATACTAGTAAATGTCTATTTAAATTTAATTATAAAAAAAATACTTGGAGGGGAAACAATATTGCAAATGTATGCAAATCTATCACAATGTAGAAACGACCCAGCTGGTTGCTTTGCTCTGAAGTCCATTTAAGGTTCATTACTTGAAACTCAATTTTGAATTGAATCTTGCCACTATAATTTGCTGCACAGAGAAAGCTGATCTTTTGCCAGCGGCTGTATTTGTTCTGTTTAGTGAGTGTAGTGGCTGAGTCAGTGCAGATCCAGCAGCTGCTGAGGGATCATGGGATTGAGGTTCAGACCGTCTCTGATGTATCGCCCATCCGGGTTATGCCAGCTCGCATCCTGAGCCACATTTATGTGAAACTGG[G/A]TGAGTGTTCAGATCCAGATGGCGTAAATGAGGATATCTGTGAAATTTAGACTCAATTTCCTTTTTGCTTTTCACAGGAAACTGTAAAAAACTCAACTTGAGTGGACGACCGTACAGGCACATTGGCGTTCTGGGAACTTCAAAGTTTTATGAGATCAGAAATGGCACTTACACTTTTACTCCACAGGTAAGTGAAATTTCTGCCTTGAAACTCTTTAGAAAGAAAATATTATCTACATGGCACAGGAGATTGGTTGCTGTCTCCTCGGCAGCCAATGAGCTTGAACTTCATGGGTGCATGCTCCACGTCATTTTAAGCTGTCAAGCTACAGCGCGTTTTTGAAGACCCTCCTCCACCCCAGCTCCACCTGTGTTTAGATACTGCTTACATGTATACTATGTTTGCAGCAGGAGCGTGTTATATTTTTTAGACGGCATGTCTGTGTGTATACTGGCAGTAGCAGGTCTCAGTACTTCCTCTGCCATAATTATCAAAGCAGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10546
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
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Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000078202 Nonsense 424 1161 14 32
Genomic Location (Zv9):
Chromosome 11 (position 34736479)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 33637416
GRCz11 11 33900218
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTCCTTTTTBNCTTTYCACAGGAAACTGTAAAAAACTSAACTTGAGTGGA[C/T]GACCGTACAGGCACATTGGCGTTCTGGGAACTTCAAAGTTTTATGAGATC
Long Flanking Sequence:
TTTTGTTAGAGTTTTTACTCTGAAAATACTAGTAAATGTCTATTTAAATTTAATTATAAAAAAAATACTTGGAGGGGAAACAATATTGCAAATGTATGCAAATCTATCACAATGTAGAAACGACCCAGCTGGTTGCTTTGCTCTGAAGTCCATTTAAGGTTCATTACTTGAAACTCAATTTTGAATTGAATCTTGCCACTATAATTTGCTGCACAGAGAAAGCTGATCTTTTGCCAGCGGCTGTATTTGTTCTGTTTAGTGAGTGTAGTGGCTGAGTCAGTGCAGATCCAGCAGCTGCTGAGGGATCATGGGATTGAGGTTCAGACCGTCTCTGATGTATCGCCCATCCGGGTTATGCCAGCTCGCATCCTGAGCCACATTTATGTGAAACTGGGTGAGTGTTCAGATCCAGATGGCGTAAATGAGGATATCTGTGAAATTTAGACTCAATTTCCTTTTTGCTTTTCACAGGAAACTGTAAAAAACTCAACTTGAGTGGA[C/T]GACCGTACAGGCACATTGGCGTTCTGGGAACTTCAAAGTTTTATGAGATCAGAAATGGCACTTACACTTTTACTCCACAGGTAAGTGAAATTTCTGCCTTGAAACTCTTTAGAAAGAAAATATTATCTACATGGCACAGGAGATTGGTTGCTGTCTCCTCGGCAGCCAATGAGCTTGAACTTCATGGGTGCATGCTCCACGTCATTTTAAGCTGTCAAGCTACAGCGCGTTTTTGAAGACCCTCCTCCACCCCAGCTCCACCTGTGTTTAGATACTGCTTACATGTATACTATGTTTGCAGCAGGAGCGTGTTATATTTTTTAGACGGCATGTCTGTGTGTATACTGGCAGTAGCAGGTCTCAGTACTTCCTCTGCCATAATTATCAAAGCAGCAGCAGTGTAGCAGGTCTATACCGCTAAGACAAAATACATCAACACTGCCATATACATAATAATTATACTAAATCCTGGGATCCTGGGACACTAATCCTATTAGTGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16397
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
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Mutation:
G > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000078202 Essential Splice Site 450 1161 14 32
Genomic Location (Zv9):
Chromosome 11 (position 34736398)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 33637335
GRCz11 11 33900137
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNCAGAAATGGCACTTACACTTTTACTCCACAG[G/T]TAAGWGAAATTTCTGCCTTGAAAYTCTTTAGAAAGAAAAKATTAWCTACA
Long Flanking Sequence:
AATATTGCAAATGTATGCAAATCTATCACAATGTAGAAACGACCCAGCTGGTTGCTTTGCTCTGAAGTCCATTTAAGGTTCATTACTTGAAACTCAATTTTGAATTGAATCTTGCCACTATAATTTGCTGCACAGAGAAAGCTGATCTTTTGCCAGCGGCTGTATTTGTTCTGTTTAGTGAGTGTAGTGGCTGAGTCAGTGCAGATCCAGCAGCTGCTGAGGGATCATGGGATTGAGGTTCAGACCGTCTCTGATGTATCGCCCATCCGGGTTATGCCAGCTCGCATCCTGAGCCACATTTATGTGAAACTGGGTGAGTGTTCAGATCCAGATGGCGTAAATGAGGATATCTGTGAAATTTAGACTCAATTTCCTTTTTGCTTTTCACAGGAAACTGTAAAAAACTCAACTTGAGTGGACGACCGTACAGGCACATTGGCGTTCTGGGAACTTCAAAGTTTTATGAGATCAGAAATGGCACTTACACTTTTACTCCACAG[G/T]TAAGTGAAATTTCTGCCTTGAAACTCTTTAGAAAGAAAATATTATCTACATGGCACAGGAGATTGGTTGCTGTCTCCTCGGCAGCCAATGAGCTTGAACTTCATGGGTGCATGCTCCACGTCATTTTAAGCTGTCAAGCTACAGCGCGTTTTTGAAGACCCTCCTCCACCCCAGCTCCACCTGTGTTTAGATACTGCTTACATGTATACTATGTTTGCAGCAGGAGCGTGTTATATTTTTTAGACGGCATGTCTGTGTGTATACTGGCAGTAGCAGGTCTCAGTACTTCCTCTGCCATAATTATCAAAGCAGCAGCAGTGTAGCAGGTCTATACCGCTAAGACAAAATACATCAACACTGCCATATACATAATAATTATACTAAATCCTGGGATCCTGGGACACTAATCCTATTAGTGTTCATGAAAATTACATCAAATGACAGGAAGTTCATTACAGAGTTAAAACTAATTTACTAACCGTCTGATCATCTAAAGTGAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11966
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
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Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000078202 Essential Splice Site 713 1161 21 32
Genomic Location (Zv9):
Chromosome 11 (position 34723442)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 33624379
GRCz11 11 33887181
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCAACCCTGCAGGAYCAGGCCGATAWCCTCTATGTCCTCTATGCTATGAA[G/A]TGAGAGACTATTGTGCATATCTATTTTGATWTCTGCTTCATCCAATAGTY
Long Flanking Sequence:
AGTTTATTAATTCTTAAATGCGAGGCTGACAGAAATGAAAATGGCTGAACGGAGCATACACTAATCCTATTATTCATTTTATTCAATATTATTTAATCACAAGATGGCGCCACACAGTCAAAAGCATCAGCCAAACAGAATCTTAAACATATGAATGTGGATGTATGTATATGATGTGAACGTATTCATTTAGAGTCAAGGTGATTCAAAGTATCTAGACGAGCATGTTTTATTAGCTTTAGTGGTTGTTATCTGGAAATAACTGATTGACCAATCAGAATCAAGTATTCCAGAGAGCCGTGCAATTAAAAAAGCGCAAAGAAGAATCAAAATAAACAGCTGTAGTTTGTGGTTTTGTCTCTTTAGGCTGATAACGTTGACCTGCATTTACCACGCGATTCTCATGGAAACACAGACTTTGTTCATCTGGTGGATCAGCTTAAGCACTGTCCAACCCTGCAGGACCAGGCCGATATCCTCTATGTCCTCTATGCTATGAA[G/A]TGAGAGACTATTGTGCATATCTATTTTGATTTCTGCTTCATCCAATAGTTTAATAATCGTTCTCTTCCTGATGTGTATGTGTATATAGAGGCCCGAACTGGGTGGTGAGTTTGTCAGGACAGGGTGAGGCGACAGTTCGCTCTCTGCTGGAGGAGCTGTACGTTCGGGCAGGAGCGTGTAAGGAATGGGGCCTCATCCGCTACATCTCCGGCATCCTGAAGAAGAGGGTGGAAGTCCTTGCTGAAGTGAGACTCTTGTTAATCTATGCATTTATTGTCAACTTGACAATATTAATTATTGTTGTTTGATTAATTCATATATAATACAGTATGTGAATCTAGACCAGGGGTGTAAAAACTCGGTCCTGGGGGGCCGGTGTCCCTCACAGTTTAGCTCCAACTTGCTTCTACACACCTACCAGAAAGTTGCTAGTATATCTAGTAAGAGCTTGATTAGCTGGTTCAGGTGTGTTTGATTAGGGTTGGAGCTAAACTTTCCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa45433
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000078202 Essential Splice Site 792 1161 23 32
Genomic Location (Zv9):
Chromosome 11 (position 34721264)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 33622201
GRCz11 11 33885003
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCTGACAGTGGGTCTTCCTCCTGAACCCAGAGAGAAAGTCATCACGGTG[T/C]GAGTGTCTTTTCACATGTTCCTTTTAAAATAATTTTAATATTCCTCCAAT
Long Flanking Sequence:
TTTTTGGTCAAAGTAATTGAATTGCTAATATGATGTGCTGATTTGCTCCTTAAGAAACATTGCTAACAACCAGAGACATTTTTTCAAAATCCTTTGTAAGATTATAAATGTCCGCATCACTTTTGATCGTTTTGAACGTTTCATGTTTTTGTTTCTCATCAAGTTAACAAATTATTTATTTTTACTCCTTATCCAGACCCAAACATCTGTTCATATCTATGAAAATCCATCATAAAATGTAAATTATTATATTGATGAAACTATGATAAGCTAAACAGAGTACAAATCGGTGATGTCATGCCAAGTCACATTTATAGTAATTAGATGGTTTCTTTTGGACTAATATCTTGAACTTACATACCTGTGAGTTGTCCAACATTTGCATTAATATGCTTTTTGTTGGCATCTTATGCAATTAGGCCTGCACAGATCTGATCTCTCATCATAAACAGCTGACAGTGGGTCTTCCTCCTGAACCCAGAGAGAAAGTCATCACGGTG[T/C]GAGTGTCTTTTCACATGTTCCTTTTAAAATAATTTTAATATTCCTCCAATACCTAACCAGGTTCTTATTTTTAGTCCTCTTCCTCCTGAAGAATTGATCAGCTTGATCTACGAGGCCAGCGGACAAGACATCAGCATTGCAGTCCTCACACAGGTACTGTTGATTTGTAAGCCTTAGGGCCCTATCATAAACCTGGCTCAGTGTTTTTCTCCGGTTTCAAATTGGTGCAGGTATAATTTTCATGTCCTGTGCCACTTTGTTTAAATTTGTGCACCCATGAGTGTGCTGGTCTGAAAAGCAGGTCTGTTGGTAAAGCATTTCTATTGTGACGCAACTGAAAAAGACCACACCATTGACCAACTAAAAGTCAATAGGGCATTTCTTTTTGTTGTTCTTGTTATTTAAACAATGTGTTGACAAACAGTGCCTATGTGCAGGTCCATGTGTGTACTTGTTGCTTATTACACACGCAGGGATGCACAGCAGCACACAAACATCTT
Associated Phenotype:
Not determined