Busch Lab

ZMP

ADAMTS2 (2 of 2)

Ensembl ID:
ENSDARG00000091328
Description:
ADAM metallopeptidase with thrombospondin type 1 motif, 2 [Source:HGNC Symbol;Acc:218]
Human Orthologue:
ADAMTS2
Human Description:
ADAM metallopeptidase with thrombospondin type 1 motif, 2 [Source:HGNC Symbol;Acc:218]
Mouse Orthologue:
Adamts2
Mouse Description:
a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 2 Gene [

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa44405 Nonsense Mutation detected in F1 DNA Not yet available
sa38188 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa30476 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa44405
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000108490 Nonsense 48 537 2 12
Genomic Location (Zv9):
Chromosome Zv9_NA41 (position 39060)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 49442896
GRCz11 14 48327273
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTAACGTAACATCCGTCTCATGTGTGTGTTTCAGTCCACGAGCCTCATT[G/T]AGCTGGGCAATCCTTCTCAGAGTCTGGAGAATGTGTGTCGCTGGGCTTTC
Long Flanking Sequence:
CCCACTTTATATTAAGTGGCCTTAACTAATATGTACTTACATAGGAATTGATAGTTTGTTACAATGTTCTTATTGTGTAAATACATGTATTTACTGTGTATTTATGCTTGATTAAATACATGTATGTAATTACATCTGTAATTAACTTTTGTAATTACATTTGTAAATACACTGTTGACCATTCCTTACACCTTAACCTACCCTTAAACCTACCCATGCCACCAAACATTTCCATAACCCAACCTCTATTCTAACTCAAAAGCACCACAAGTGTTCTCAAATACATTATAAACACAGTAAGTACATTGTATTTATTTTTTTGGTGTAAGTACATAGTAGTTAAGGACACTTAATATAAAGTGGGATCAACATTTATTACGTTTTATTGTTCCGGAATTGCATTGTTATAGAAATCAGAAGCCTAAATTAATTTCTGAATGTATCATTGAGTGTAACGTAACATCCGTCTCATGTGTGTGTTTCAGTCCACGAGCCTCATT[G/T]AGCTGGGCAATCCTTCTCAGAGTCTGGAGAATGTGTGTCGCTGGGCTTTCGAACAGCAGAGGAAAGACACTAATGATAAAGAATACCACGATCATGCCATCTTTCTCACGCGCCAAGAGTTCGGGCCCACAGGAATGCAAGGTAAAATACACACCGAGGCTTTAAAAAGCACACCATCTTGCTGTAGCCTTGACCTCAGGCATTTGTCAGATGAGTGGGATATATTAGTGTGAATGGATGATGTGGATGTGAGGAGGACACATTCAGTCTGGTTTTCTTGTGTGTTTTTAGGTTACGCTCCAGTCACAGGCATGTGTCATCCTGTGCGGAGCTGCACTCTCAACCATGAGGACGGTTTCTCTTCTGCGTTTGTGGTGGCGCACGAAACCGGCCATGTGTGAGTTTCTATTGCAGCCCGATAGTTATCAGTCTACTTTTACATTCATGCAACAGTTAGATCTGGTCTTTGTTTCTGATTGGATGTTCAAAAGAGCAGTCAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa38188
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000108490 Essential Splice Site 95 537 2 12
Genomic Location (Zv9):
Chromosome Zv9_NA41 (position 38917)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 49442753
GRCz11 14 48327130
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATGCCATCTTTCTCACGCGCCAAGAGTTCGGGCCCACAGGAATGCAAGG[T/G]AAAATACACACCGAGGCTTTAAAAAGCACACCATCTTGCTGTAGCCTTGA
Long Flanking Sequence:
AACTTTTGTAATTACATTTGTAAATACACTGTTGACCATTCCTTACACCTTAACCTACCCTTAAACCTACCCATGCCACCAAACATTTCCATAACCCAACCTCTATTCTAACTCAAAAGCACCACAAGTGTTCTCAAATACATTATAAACACAGTAAGTACATTGTATTTATTTTTTTGGTGTAAGTACATAGTAGTTAAGGACACTTAATATAAAGTGGGATCAACATTTATTACGTTTTATTGTTCCGGAATTGCATTGTTATAGAAATCAGAAGCCTAAATTAATTTCTGAATGTATCATTGAGTGTAACGTAACATCCGTCTCATGTGTGTGTTTCAGTCCACGAGCCTCATTGAGCTGGGCAATCCTTCTCAGAGTCTGGAGAATGTGTGTCGCTGGGCTTTCGAACAGCAGAGGAAAGACACTAATGATAAAGAATACCACGATCATGCCATCTTTCTCACGCGCCAAGAGTTCGGGCCCACAGGAATGCAAGG[T/G]AAAATACACACCGAGGCTTTAAAAAGCACACCATCTTGCTGTAGCCTTGACCTCAGGCATTTGTCAGATGAGTGGGATATATTAGTGTGAATGGATGATGTGGATGTGAGGAGGACACATTCAGTCTGGTTTTCTTGTGTGTTTTTAGGTTACGCTCCAGTCACAGGCATGTGTCATCCTGTGCGGAGCTGCACTCTCAACCATGAGGACGGTTTCTCTTCTGCGTTTGTGGTGGCGCACGAAACCGGCCATGTGTGAGTTTCTATTGCAGCCCGATAGTTATCAGTCTACTTTTACATTCATGCAACAGTTAGATCTGGTCTTTGTTTCTGATTGGATGTTCAAAAGAGCAGTCATAATTTGTAAACATGTGCTTACGGCAAGATACTTTTCAGTATTCAGGACAGTTCAACCAAAACAAAGCAGTTATATGCTTGGAGAAACAAAAAGCAGTATAGTTTACCATCTGAGGTCTCGTTATAAGATCATTATTTATCATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa30476
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
ENSDART00000108490 Essential Splice Site 453 537 10 12
Genomic Location (Zv9):
Chromosome Zv9_NA41 (position 4740)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 49408576
GRCz11 14 48292953
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACCAAGTGCAAAACTCACAAATTCGACTTCACCTATGAAAAAAAAAGAGG[T/C]ACGTCTCTCAAGTCCAGACACAATAGTGCAATGCAAGCGTATTATACACT
Long Flanking Sequence:
GTATATTTTATTTTTTTTTATATTTTATTTTATGATTATTTTATTTTGTATTATTTCATAATTTTTATTTAGTTTTATTAAATTTTTATTTAATTTAACTTTTATTTTATTTTATTTTATATTTTTTTTATTTCTGTCACTCACACATTTCTCTGGTCTTGTTTTCCACAGCTAAGCAACGCTGCAAACTATACTGTCAATCCAAAGAGAAGCGAGTTGTAGTGAACATGCAGACCTTGGTTGAACCTGGGACGCGCTGCTCCTACAAAGACCCCTACAGTGTGTGTGTGTACGGCGACTGTGAGGTGAATAACAGCGTGTTTCTATTAAACACATGTCTTTAATTGCCTGTGGCTCACGGTGTGTGTCTGCCTTCAGAAAGTGGGCTGTGATAATGTGGTTGGATCAGCTCTACAGGAAGATAAATGTGGCATTTGTGGAGGAAACGGAACCAAGTGCAAAACTCACAAATTCGACTTCACCTATGAAAAAAAAAGAGG[T/C]ACGTCTCTCAAGTCCAGACACAATAGTGCAATGCAAGCGTATTATACACTACCTGACAAAAGTTTTGTCGTCAATCCCAGATGTACATATGAGAAAATGTGACCCAGTAACTAATTTGAGGTTGTCAGAAATGTACAAGGCGTCCTCTATTGGATTTGTGAAAACAAAAACTGCAAGAAAATGTAGTCCTGGGTAAATATGTGTTGGTTCTCAAAAAATGTAGCCCTGGTCACATTTTTCCAATAAGCCTGGGTTGGATTGTTTAATAGGGTGGTTAACGTACAGTAATAGTGATTGCCTGTGTTTTACATCTGCATTAGATGTCTTTAAAGTGCTTGTAGTTCCCAGAGGAGCGAGACATCTCTTCATCCAGGAGCTCAACGGCACTGCTCACATCTTAGGTAAAGTAAAGAGGTTTTCCTTTAGTTTTTCTTACAGCAAACACAGAAGATGTTACTGCACTGTGAAAAAGTCTTTACTTAGAGTTTTTGCCTTGTTTC
Associated Phenotype:
Not determined