Busch Lab

ZMP

FRMPD2

Ensembl ID:
ENSDARG00000074119
Description:
FERM and PDZ domain containing 2 [Source:HGNC Symbol;Acc:28572]
Human Orthologue:
FRMPD2
Human Description:
FERM and PDZ domain containing 2 [Source:HGNC Symbol;Acc:28572]
Mouse Orthologue:
Gm10194
Mouse Description:
predicted gene 10194 Gene [Source:MGI Symbol;Acc:MGI:3642863]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa27854 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa44749 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa18532 Nonsense Available for shipment Available now
sa21994 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa27854
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
ENSDART00000108480 Essential Splice Site 268 921 7 22
Genomic Location (Zv9):
Chromosome 12 (position 2804336)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 2504844
GRCz11 12 2539577
KASP Assay ID:
2260-4792.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGATCAGCTGTTTGCCTCTTCTTTTAGCCTTAATGAACGGAAAATGAAG[G/A]TAAGTAACTGCATAGATCCTTTTCATAGATGCATCTCTGGTGAAAATCCC
Long Flanking Sequence:
TTGTTATTGGTCAGCAAAATAACATAGTCCTTAGACACTGACTAGACGTTGAATTTCGGTCACCTGACGTCACGACCTAAATCTAACCTAATTTTATTTTCGTTAGACATTGTGTGCCTTCTGGGTTGCTGTCGCTCAGATTTTATATAAAGTTTCTTAACTTCAGAAGATGAACAAAGGTCTTTTGGGGTTTGCAATGGCATAGGCGTCATTTAAGGTGAACTAGCCCTTTAAGTGTGTTGGAACAGTTGGAACTGAACTGTGCAGAGCCAAGTCAGACACCTCGATTTAGAGGCTTGTATATCAAATATGCTATCCAGCAGGCTTTATCATGTACATCTCTGAACTTATCTTCTTCTAGATTTCACAGTTCACACCAGAGAAGCAGAAACAGCACATATATGAGCCAAAGTCCTGTTCTTGACCGACGCCGTCAGTTCGCCTTGAGGCCAGATCAGCTGTTTGCCTCTTCTTTTAGCCTTAATGAACGGAAAATGAAG[G/A]TAAGTAACTGCATAGATCCTTTTCATAGATGCATCTCTGGTGAAAATCCCTCCTTTGCGATCAAAACAGGTCAAACAAGTAGATCTAATTGGAAAGACTAAACATATCCTTGATCTCACAAGTGTAAATCGAGAAGTTTTATATAGTACAGTGTTTTCTTTGCATTTTACAGGACTTATAGTTTAGCCTATAGCATTGCCATCTAAGTATCCATTATCTCTGTGCATATTACTTCATATTTTATAGCATGATGGGATTTTTTTTAACCCAGTACCTGAAAGATGCATTACTATGACATTTATTTCACTGTAAGTAACTTATGAATGCTTAATTTAGATACACAAGCCTGACTTATAAACTTTATAAAAGGTTTTAGAACAAAAAAAGCTTCTATTATTGAGGTGGTTTGTCATATGGCAAAAAACGTCATATTTATCACTTTCAGTACTTTTAAAAATGTAATTTCAAAGGGTTTCCTGTTAAACGACAGTAAGATATTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa44749
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
ENSDART00000108480 Essential Splice Site 350 921 9 22
Genomic Location (Zv9):
Chromosome 12 (position 2810131)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 2510639
GRCz11 12 2545372
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCACACAAATCTCGTCGAGCATTTCTACTTCGGCCTTGCATATAGTTATG[G/A]TAATGTGTTTTGTGATAGTGCTGTTACTAAGATAACTGATATGGTTTTAT
Long Flanking Sequence:
TTTTTGTGTGTGTAATGGTGCAACACTATGACCAAAAATGCCATGAGCTGGTTTTATTTAGTAATCCAGTGTTCTTATCCTGCCCCATATTATTCCACTTAAATTCCTCACCGATGTGTTTGTGTTCATCTTCAGGATACGGGCCCAGAGTTCATCCGGATGCTGGAGGAGCCTCTTGTCGTTTTAGAGCTGCCTAATTCTATTGTGGTCAGTTTAATCTCTCTGAGAGCGAGAGTTTGGCTCGACACCAAATTATCTGTTGCATAATGCCAACACTGCCGGCCTGGATAAGACTGATCACTTATTTTTGATCTTATTTCCCCAGTCAAACAAAGGGAAGTCAAGTTCAAACCAAAGGGACTTGACGGTTTTGATGCCAAACGGACAGAACGTTCTGCTCAAGTGCGATGTAAAGTGCAGAGGACGCGACGCATTCGATATGATCGTCGCTCACACAAATCTCGTCGAGCATTTCTACTTCGGCCTTGCATATAGTTATG[G/A]TAATGTGTTTTGTGATAGTGCTGTTACTAAGATAACTGATATGGTTTTATTAATATTTTGAATTTTTCCATTCTCTTTATTTATTTTAACTTAACCCTTGTGAATTGTAAAAATTGACTACCCTTTCATTATGTTGGTGGCTATTTTTGACCAATTGACTTCCATTACAGCCACATTTTTTGATTGCAAAGGCATAACATCATATAATCATGCATACTTGATTGTTGCTGGTAAAATTCGTAATTTTTACTGTTGATTATCAGTTGGCAGCATTGACCCTTTAGATAGGCCTGCGCAAAAATGGCTTTTATATGTACAAAAAACAGTTTCCGGCTTTTATATGGAGTAAAACAGCAGATTATAGTGTGTGTGCAGAAATACACTCTTATTATGTTTAATATTATCACTATTGCTTATCTTGATTTTCGCAGACATATCAAGGTGTGTAAAGGTTTTTCTTATAGTTCTTTCACAACAGACGCGGATGAACGGTCAATCGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18532
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000108480 Nonsense 531 921 13 22
Genomic Location (Zv9):
Chromosome 12 (position 2814756)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 2515264
GRCz11 12 2549997
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTGTTTGGAGAGCTTCTGCTGGGAGTCTGTGCCAAGTGCATCACTGTGTA[T/A]GAAGTTATTAATAACTGCCGCACCGCAAGCCTTACATTCCATTGGAGAGA
Long Flanking Sequence:
CAGCTAAGTGTGAACTCTTGAAAAGGTTCATATTAATACATCAAGGGTACATATTGGTACCTAAAAGTACAAAAATGTTCCTTATAAAAGGTTTAGGTACTAATATATACATTTTAGGCACCAATATGGACCCTTTAAGTACAAATTTGTACCTTTTGAAAAGGTACCACCCCAGTGACAGCTCGCGTACTTTTATTTTTGAGAGTGTAGAAACCGAGGGGTACGAAAATTTCCCAGAATTAACCAGCTACATGACTGCATATGCGAGTTTTGACACAATAAATGCTGAACAAGTATTGTTTATAAATAGTTCGGGTTATTGAATACATTAACTAGTGTAACCGTATTATAAAGTGTGACCAATCTGTCTTATAAACTTCTGTTCAGAGCGTTCAGCAGCTGCCGGAGTATGGTGTGCTGTTTCACCGCGTGGCCCGAGAGAAGAAGCCTGTGTTTGGAGAGCTTCTGCTGGGAGTCTGTGCCAAGTGCATCACTGTGTA[T/A]GAAGTTATTAATAACTGCCGCACCGCAAGCCTTACATTCCATTGGAGAGACACGAGCAGCATCACCTCAACTGTGAGTACACACACTCGAACACACTATGAGAAGACACACCTTTCTCACACACACACATTTGTAGAAAATGACTGGTAAACTATCATTAAAAGATAATGTGTGAACAGGCCTTTTTAAAAGTAATGGAAAATTAATTTTGGCTCAGTGGTTAGCACTGTCGCCTCACAGCAAGAAGGTCGCTGGTTCGACTTCTGATTGGGCCAGTTGACATTTTTGTGTGGAGTTTTACATGTTTTGTGTGGAGTTGGCATGGGTTTCCTCCGGGTGCTCCGGTTTCTTCCACAACCCAAAGACATGCGCTATATTAATTAAATCAACTAAATTGCCCGTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTATGTGTGAGAAAGTGAGAGTGGATGGGTGTTTTTTAGTACTGGGTTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21994
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000108480 Essential Splice Site 791 921 19 22
Genomic Location (Zv9):
Chromosome 12 (position 2824114)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 2524622
GRCz11 12 2559355
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGCAAAGCAGCTCCAATGACGTGGAGCTCATCATTTCACAGCCCAAAGG[T/C]ACACTAGAAAAAATATGTTGCTCACTTCAATTTTTTTGTTTTTTAATTTA
Long Flanking Sequence:
CCATATAAATAGTAAAAAATTGCATAACAGTAAATTTCCATTAATTTATATTCTGTAAAGCGTAAATTGATTTTTCCAGAATTCTCTTCACAACAGTTCCCTTTTTGTTTTGTTTTTTGTTTTACATTTCTGTTTTTTTTTCCTCATCTGTGATGTACATTAGTTTTGTTACATCTAATCATGATCAATAATAGTGATTGCATTACTTTAGCATTGTGTGTTGCCATGATGGTGTTTAGTTGTTGTGAATGACACTGAGTGCCTCTTTTGTGCATTAACATGATAAGCACTGGTTCATTATAAATACAGATCTAGTACCTACTCGAGTAGTGCGCGATTTCAGACACAGCCATGGTCTGTATGTGAGTTTGATCTTCTTCAGGTGGTCGTCTGATCTCTCTGAATCAGCTCAGTCTGGAGGGCATGTCGTTTAGTGAAGCCGCTGACATCATGCAAAGCAGCTCCAATGACGTGGAGCTCATCATTTCACAGCCCAAAGG[T/C]ACACTAGAAAAAATATGTTGCTCACTTCAATTTTTTTGTTTTTTAATTTAACTTTACAAGTTAATTTAACTTGCATCAGTTAAGCTGACTTAAGCTGACTGTGGAGTCCCACGGGACTCGATTCTGGCACATCTCCTGTGCAACCTTTATATGCTGCCTCTGAGCCAAATAATGAGAAAGAACCAAATCACCTACCTCAGCTATGCTGATGACACCCAGATCTACTTAGCCTTACTGCCTAATGACTACAGCCCCATTGAAACCCTCTGCCAGTGCATTGATAAAATGAACAATTGATTGTGCCAAAACTTTCTTCAGTTAAACAAAGAGAAAACTGAAGTCATTGCGTTTGGGAACAGAGATGAGGTAGCTATTCTGCTTGTGAATGCTTAATGATGGAGTGTGTGTTTGTGAACTCCTCAGCTCAGTGCAAGCGTGGAGGATCTGTTTCTCTGAACGAGCGCAGCTACGAGTCTCAGAGCACAATCCTGGCAGACGGC
Associated Phenotype:
Not determined