Busch Lab

ZMP

pth1rb

Ensembl ID:
ENSDARG00000018418
ZFIN ID:
ZDB-GENE-991123-12
Description:
parathyroid hormone 1 receptor b [Source:RefSeq peptide;Acc:NP_571453]
Human Orthologue:
PTH1R
Human Description:
parathyroid hormone 1 receptor [Source:HGNC Symbol;Acc:9608]
Mouse Orthologue:
Pth1r
Mouse Description:
parathyroid hormone 1 receptor Gene [Source:MGI Symbol;Acc:MGI:97801]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa17271 Nonsense Available for shipment Available now
sa22039 Nonsense Available for shipment Available now
sa22038 Essential Splice Site Available for shipment Available now
sa41969 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa17271
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000003805 Nonsense 57 542 3 14
ENSDART00000123989 Nonsense 57 542 2 13
Genomic Location (Zv9):
Chromosome 12 (position 10036296)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 9244251
GRCz11 12 9282094
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTGCGCGGTCRAGGTGTGAGAGAACCATCCGTGCACAGTCAGACGTGGTC[A/T]GAGGTATAACARTGTATTTMTATTTTATTTCAGCRCTATTTAYTGTATAT
Long Flanking Sequence:
TCCCATGTTCATGTGAGTTTCCTCCAACATGCTTTTCCCCATCAGTCCAAAGACATGCGCTAATGGTGAATTGGATGAACTAAATTGCCCGCAGTGTATGTGTGGATGCAATGGTGTATGGGTGTCTCCCAGTACTGAGTTGTGGCTGGAAGGGAATCAAACTGCATAAAACGTGGAATATGTCCTCTGAAATATTTGGCGATTCATTCCGCTGTGGCGACAGCTGATACAGTAAATAAGCCGAATAAAAAATGAATGACAATGCAGAACATGAACTTCCAAATAACAAAAGTCTCAGAATTACAGATAAAAATGTGCTGACGATATACATCAGACACGGTTTGTCTGAAATTGTATATATAAAAATAACGTTTCACCTTTCTCTGTTGCTCTTACAGATTGATTCAGATGATGTCATCACAAGAGATGAACAGATCTTTCTCCTCATTGGTGCGCGGTCGAGGTGTGAGAGAACCATCCGTGCACAGTCAGACGTGGTC[A/T]GAGGTATAACAGTGTATTTATATTTTATTTCAGCACTATTTATTGTATATTTTACCATAAATATGCTTTAAAATATGTATGAAATATTTGCATAAAGGGCCATTATACTATGCTATAATTGTTAGCAAGACACTTAAAGGTGCTGTAGGTGATCTGCCAAAATGCTAACTGTTAGCGTAATAGCTTTGAAAAAACAGTTCCATCCCTGCTATCCAAAGCCATGCCACCTGAAATCACGAATTTGCACTGTAAAGAAGACAGTAGACAACCCACTAGATCGTGTCATTCACCAGTTAGAAAACTTTATAGTACTTTATAACAATACAATTTCGAATGAAAAACTGTATCATATCTAGCAGTTTTCAGTTGTGTAGCAAGCAAAACTTGGAGTTTAACGTACATATCCTAAAAATTTGTTAAACTATATTATAGTTTATAGTATATTATTTGTACTAAAGCTTTTTTAATCATTCTTTAAAAGTTTTTTTCTGATATTAATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22039
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000003805 Nonsense 96 542 5 14
ENSDART00000123989 Nonsense 96 542 4 13
Genomic Location (Zv9):
Chromosome 12 (position 10029821)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 9237776
GRCz11 12 9275619
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCAGTTCATGTGGACTTTAAATATTAAGTATTTCTGTTTATTTTAGGATA[C/A]GCGTATCGACACTGTGATGCATCAGGTAACTGGGAGCAGGTGTCCATTAT
Long Flanking Sequence:
GTCAATAGCTTTTTTTTTTTTAAACATTCTTCAAAATACCTTGTTTTATTTGATTAAATAGCCCCTTTCACACAGTGATACCAGTAAATATCCGGAAAATTTCCGGAACAACTTTACCGGTAAATTAAAAAAACTGCTGTTAACACAGGCGAGGACGTTACGGAAATTTTCCGGAAAAGAGCATTCACACATCCATTCCAAAATACCAGTAAATTCTGACATGATTCACCACAAATGAGCTTTAAATGGCTGCGCTTGTATTTGTAAACATTTGACTAAATTACAAACTCTGTGGATGATCAATATTTTGAACAACTTTCGCAGGATCACTTTCGCATGTCGGGATGTTCAATCTAGGTGTTCGAAAAGGTCTGTATGTGTGAAAGGGGCTAATATCAGGTTTCAGTAAGAAACACATCGTCATTTTGAAATATAAGTCTGCAGAGACTTCCAGTTCATGTGGACTTTAAATATTAAGTATTTCTGTTTATTTTAGGATA[C/A]GCGTATCGACACTGTGATGCATCAGGTAACTGGGAGCAGGTGTCCATTATAAACCGGACGTGGGCAAACTACACGGAATGCACCACTTACCTGCACACCAACCACAGTGATCAGGAGGTACATCAATTTATAACTCATTAAGTGATATAATCTGTTGGAGCCAAACATGCTTACATATGAGCTCAGTGAAGTTTTAAGCATATGACTGCAACTGACTGACCACCATTTTGTCAATTATTAATTCATTTAAATCACAGGCGTCAAACTCAGTTCCTGGTGGGCTGCAGCTCTGCACAGTATAGTTCAAACCCTTATTAAACACACCTGATCAAACTAATTGAGTCATTTAGGCTTGCTTGATACCTACAAATGCATTAATAATTTAACAGCAAATTTCTTCTGCGTTTTTTTCCCTTTAGGGCTCACAAGAGTTGTATTTAAAGAATTAGTTAACCAAAACATGCAATGAATTAGGAGTCTGGACCTTCATGCCGTCCACT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22038
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000003805 Essential Splice Site 167 542 7 14
ENSDART00000123989 Essential Splice Site 167 542 6 13
Genomic Location (Zv9):
Chromosome 12 (position 10023023)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 9230978
GRCz11 12 9268821
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACCTATACAAGTCAACCACATTTTTCTCTCTTCTGTATTTTCTTTCTCT[A/T]GACGTCTCCACTGCACTCGTAACTACATCCACATCCACCTCTTCACCTCG
Long Flanking Sequence:
CAAAGTAACATGGTAAACAATATAGGGAGGGCATCACAAGCTGTCATTGTTCAAAAATAAACTAATGTCATGTGAATATAATGTCAACTTCACCTCAGTAAAACAGGCTATAGGTGGAATAGCTCTGTTTACTGATGCTCTGTTGTTAAACTAAATAAAAATCTACATTACTGATGCTGTAAAAGGAATCTTATGAAATTAGAAATCAATTGGATGAACATTGTTTAGTCCTATGCCTTATTCATAATCAAAATACATATAAATACATTTAGATCATTTACTTTAATCATTACTATTGGAATGTGAAGATATTTTTAACTGCCCCTTTAACTGGCAAAATTATTTTACGACTTAAAAACTCAAACAGACAATCTTAAAATTACATAAAAGTTATGAAAAAGTATTTTCTTTGTGTAAATACATAATTATAAATAATTTCCACAAATACTTCACCTATACAAGTCAACCACATTTTTCTCTCTTCTGTATTTTCTTTCTCT[A/T]GACGTCTCCACTGCACTCGTAACTACATCCACATCCACCTCTTCACCTCGTTCATATGTCGAGCAATCAGTATTTTTGTGAAAGACGCCGTTCTTTACGCCGTCACGAATGATGGAGAACTAGAAGATGGGGCAGTGGAACAAAGACCCATGGTACATTCACAAAAAACCCATTAGCACACAAATACATAACTAACGCTTTCCAGAGAGATCAACATCAGCTTTATTGGCCTGTGTGTTTATCAGGTGGGCTGCAAGGCTGCTGTGACCCTCTTCCTGTATCTGTTGGCGACCAATCATTATTGGATCCTGGTGGAGGGTTTGTACTTGCATAGTCTGATCTTCATGGCCTTCCTGTCTGATAAGAACTGCCTGTGGGCTTTAACAATCATAGGCTGGGGTGAGCTGGCACTTTTTGTTTTGCAGATAGCTGTTGATAGTAATATTTGTGAGCATTCTAGTATGAAACAAGATTTGAAAGATAAGAAACTGTTTGGAAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa41969
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
ENSDART00000003805 Essential Splice Site 269 542 8 14
ENSDART00000123989 Essential Splice Site 269 542 7 13
Genomic Location (Zv9):
Chromosome 12 (position 10022622)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 9230577
GRCz11 12 9268420
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCCTGTCTGATAAGAACTGCCTGTGGGCTTTAACAATCATAGGCTGGGG[T/C]GAGCTGGCACTTTTTGTTTTGCAGATAGCTGTTGATAGTAATATTTGTGA
Long Flanking Sequence:
TATTTTCTTTGTGTAAATACATAATTATAAATAATTTCCACAAATACTTCACCTATACAAGTCAACCACATTTTTCTCTCTTCTGTATTTTCTTTCTCTAGACGTCTCCACTGCACTCGTAACTACATCCACATCCACCTCTTCACCTCGTTCATATGTCGAGCAATCAGTATTTTTGTGAAAGACGCCGTTCTTTACGCCGTCACGAATGATGGAGAACTAGAAGATGGGGCAGTGGAACAAAGACCCATGGTACATTCACAAAAAACCCATTAGCACACAAATACATAACTAACGCTTTCCAGAGAGATCAACATCAGCTTTATTGGCCTGTGTGTTTATCAGGTGGGCTGCAAGGCTGCTGTGACCCTCTTCCTGTATCTGTTGGCGACCAATCATTATTGGATCCTGGTGGAGGGTTTGTACTTGCATAGTCTGATCTTCATGGCCTTCCTGTCTGATAAGAACTGCCTGTGGGCTTTAACAATCATAGGCTGGGG[T/C]GAGCTGGCACTTTTTGTTTTGCAGATAGCTGTTGATAGTAATATTTGTGAGCATTCTAGTATGAAACAAGATTTGAAAGATAAGAAACTGTTTGGAAATACATTCACTTTCAATTTTTATAATTTTTTAAAATCCTTTCAGCCAATCTCCGGGTCTGGGAGGAGCACTTTTAGCTTAGCTTAGCTTAGCATAGATCATTAAATTGGATTTTGATCGTTTGAAATCATGACTCTGCAGTAACATCAGGGCTGGTGCTTCCATAGGGCGGCAGAATAGAGAGGGCGGCGTCCCCAAAACTACCCTCGCCACCCGCGCCTTCATCCGCGTCTAGGTTGGCAGAATAGAGAAAGCGGCGTCCCCGAAACTATCCTCGCCACCCGTGCCTCAGTTATATCTGCGTCTAGGGTGGCAGAATATAGAGAGCGGTGTCCCCGAAACTACCCTCGCCACCCGCACCTCAGTTATATCCGCGTCTAGGGTGGCAGAATAGAGAGGGCGGC
Associated Phenotype:
Not determined