ZMP

rpgra

Ensembl ID:

ENSDARG00000056617

ZFIN ID:

ZDB-GENE-070912-423

Description:

Retinitis pigmentosa GTPase regulator protein 1 [Source:UniProtKB/TrEMBL;Acc:D2X898]

Human Orthologue:

RPGR

Human Description:

retinitis pigmentosa GTPase regulator [Source:HGNC Symbol;Acc:10295]

Mouse Orthologue:

Rpgr

Mouse Description:

retinitis pigmentosa GTPase regulator Gene [Source:MGI Symbol;Acc:MGI:1344037]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa14986	Nonsense	Available for shipment	Available now
sa41448	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa14986

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
ENSDART00000079095	Nonsense	749	1698	13	13
ENSDART00000131781	None	None	367	None	9

Genomic Location (Zv9):

Chromosome 9 (position 31318896)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	9	30474842
GRCz11	9	30285588

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CKCAAAGCGACATTGAGCCTTCAATTGAAACACTGATCAACACACAGGAA[C/T]AGCGGAACTTAACACCAGTCAAAATTACAGCCGAAATGCAAAGCACCCTA

Long Flanking Sequence:

CACTGCAAAGCAAAGTGCAACCCAAAATAGTCAAAACAACTATCCAGAGTACAAATAATAGATATAAAGGTAAAAAAATAGAAGTCAAATCATCTCCAGATGGAATATCAGCAAAAGAACTTAGTAAAACTTGGAGTACAAATATTGATTTAAAGGAAACTGTTGCAAAAGCAGACAGATATAGTAAAGATTCCAGAGGTGAAGAGGTTATTACTCTTTCTGATACAGAGCAAGAGACCAAGTCAAGTTCAATTAAAATTCCACTGACAAGTTCTTCAGTTCAGGAAGTTGAAAAAGTAAGAACAACACCAACAAGCACTCAAGAGGTCCAATCTCCTATAAGCAAAGAGGCTGGTATTCCAGAAAAAGCCTCAAAAAGGGTCAATTCACCGATCAAGGTTCAAGAAATGCCCACCGGTGAGATGGAAGTTAGTAAAGTTAAACCAACGCCTCAAAGCGACATTGAGCCTTCAATTGAAACACTGATCAACACACAGGAA[C/T]AGCGGAACTTAACACCAGTCAAAATTACAGCCGAAATGCAAAGCACCCTAAAAAAAGGAAATGAAAAGATGGATGTTAACACCCCTAGTGATCATACAGCAAAGAAAGCAAAAAACAAGAGAACCGCTGTTGAAAGAGGCCCAATCGCAGAACTATCACCCCAAACACCCAGCCCTCTATCAGTTTCAACACAAAAGTCCAAAGTGGAGCCTGAAAACTCAAGTTTGCAGCTTAGATCTGCAATGCAAACACAAGAAGCAACAGAAAAAGGGGAAACGAACAGTAATTCACCTCAGAGCTCAGAGAATAGATCATTTCCCACAATAAAGAGCAAAAAATCAGATGCAGAAAAAAGCCAATCCGCTTCTACCCTGCAGTCTGACCAGAAAAATAGCCAGTCATCCACCAACAAAGCACTTGCGGAACAGAAACATAAATTTCCTTCTATTAAAAGCTTAGCTCCAGAGAGAAGCCACTCAGTTTCCAATTTATGGTCCAAT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa41448

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:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000079095	Nonsense	913	1698	13	13
ENSDART00000131781	None	None	367	None	9

Genomic Location (Zv9):

Chromosome 9 (position 31319390)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	9	30475336
GRCz11	9	30286082

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TCTATTAAAAGCTTAGCTCCAGAGAGAAGCCACTCAGTTTCCAATTTATG[G/A]TCCAATAACCAATCAGCAACCAATAAATCGTCCGCCCCAAAAGCAGCTGA

Long Flanking Sequence:

CAGGAACAGCGGAACTTAACACCAGTCAAAATTACAGCCGAAATGCAAAGCACCCTAAAAAAAGGAAATGAAAAGATGGATGTTAACACCCCTAGTGATCATACAGCAAAGAAAGCAAAAAACAAGAGAACCGCTGTTGAAAGAGGCCCAATCGCAGAACTATCACCCCAAACACCCAGCCCTCTATCAGTTTCAACACAAAAGTCCAAAGTGGAGCCTGAAAACTCAAGTTTGCAGCTTAGATCTGCAATGCAAACACAAGAAGCAACAGAAAAAGGGGAAACGAACAGTAATTCACCTCAGAGCTCAGAGAATAGATCATTTCCCACAATAAAGAGCAAAAAATCAGATGCAGAAAAAAGCCAATCCGCTTCTACCCTGCAGTCTGACCAGAAAAATAGCCAGTCATCCACCAACAAAGCACTTGCGGAACAGAAACATAAATTTCCTTCTATTAAAAGCTTAGCTCCAGAGAGAAGCCACTCAGTTTCCAATTTATG[G/A]TCCAATAACCAATCAGCAACCAATAAATCGTCCGCCCCAAAAGCAGCTGAATCTGGTAAACTGTTCAGCTCAACAAGTTCATCACCTCAGCTCAGGCAGTCACCGCTTAACAAGAGGAAATTGAAAACAGTTGAAGATAAAGAGCCGGTTTTGGTAACAGAGACCCCTCATCAACAGTCTGAGCAGAGCCTTATGGGTAGTGTAGTTTCAGTGCTACCAGCTATGGCTATAGCTGCACCACTACTGATAAAAGCAGCTGAAGTTCTCTCTGAAACGTCACTAGAACAAAGTAATGAGATGTCATCATGTGCATCGGCGTCTCAGGAAACAGCAGGAAATAAGATCCTGATAGAGCAGGAAGTGGAGCAAGACACCACAGTTCAAGATATATCAGCAACTGAGGAAACAGATGACAGAAACAAACAGGAGATCGTAGAGGACTTACAGAATGAGCTTGTTTCAGATAAAGTGTATACAGGTGGTAATGAAAAAATGGATGA

Associated Phenotype:

Not determined