ZMP

rptor

Ensembl ID:

ENSDARG00000059879

Human Orthologue:

RPTOR

Human Description:

regulatory associated protein of MTOR, complex 1 [Source:HGNC Symbol;Acc:30287]

Mouse Orthologue:

Rptor

Mouse Description:

regulatory associated protein of MTOR, complex 1 Gene [Source:MGI Symbol;Acc:MGI:1921620]

Alleles

There are 5 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa11537	Nonsense	Available for shipment	Available now
sa18578	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa11537

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:

T > G

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000083756	Nonsense	443	1363	12	35

Genomic Location (Zv9):

Chromosome 6 (position 17563454)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	6	17543357
GRCz11	6	17843323

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CACTGAACATTATGCTAATGTTTTTCCATATRTTTTCTCTCAGGTCCTTT[T/G]AAGTCAGGTACACAGGCTGAGGGCGCTGGATTTGCTTGGACGATTTTTGG

Long Flanking Sequence:

GTACTTGTACATGTGTAATGACAATAAAGTTGAATCTAATCTAATCTAATCTAATCTAATCTAATCTAATAGTTTGATCGCAGTGTTTACTACAATAATGTCACTAATATATGCATACTCTATGTCCTAATTCCATTTCTGTTTAGTTCAGTTATGACTAGGTGGATTAAGGTAATCAAAACTCGCTGTTTTGAGCTTATGTAGGCCTACAGTTTAAAATTCTTGTTTAACTGAATATACAGTTAGTAAATACAAGTACATCTTATTGAACATAATTTATTTTCATCACCAATTATCATAGTAGAACAGTTTCTCAAGCCGTTTGTCATGCATTTTGGAAACAGTCTAATGTGCCACCTGGGTTGAGAAACCCGCCAAACTCGGTCAACTTTGTACTTGTGTACTAGCACATATATTCTTAATGCCTTCGTCAGACATCAATATACCCCTCACTGAACATTATGCTAATGTTTTTCCATATATTTTCTCTCAGGTCCTTT[T/G]AAGTCAGGTACACAGGCTGAGGGCGCTGGATTTGCTTGGACGATTTTTGGACCTGGGTCCTTGGGCTGTCAGTTTGGTGAGACATCATACAGCACACTTTTAACAGATATTTTTGACTGACTTTTACAGTAAAGCTTGTAACACAAACCATGGCTTAACATTACTTTAGGTAATACGCACTGTATGTAAGTTGGTTTATATACATAAATGTTAATAAGACGAGATCTGTGAAAGAAAAAATATCTAATTAAATCAAGAACATACAATTTTTGAAGAAAATGTTTGGCTGCCTTGTATAATTGTTATGCTATTATTGTTGTTTCTGTCACTTTTTTATGCTGTTGTTTTTTTTTATGCAGGCTCTTTCAGTAGGAATTTTTCCATATGTGCTAAAACTGTTGCAGAGTTCAGCGAGAGAGCTGAGGCCTCTTTTGGTCTTCATCTGGGCAAAGATCCTGGCTGTAGATAGTGTATGTATCTTAAATTGATTGCATTGAAGA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa18578

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:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000083756	Essential Splice Site	802	1363	20	35

Genomic Location (Zv9):

Chromosome 6 (position 17589762)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	6	17517049
GRCz11	6	17817015

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CGACAAGATGAGAAGAGTCAGCTCAKACTCATCCTTAAATTCTCTCATTG[G/A]TAAGATTWCCTTTTTCAGCAGCAGACAAGACCGTTATTGGTTGTTACAAC

Long Flanking Sequence:

TTTCAACAATTTTCAATTATTAATCTTTAACAGATTAATATACACTATCTGCTGTTGTGAATGAAAAATAACAAATGAAGAAGAGAAAATAGCTTACTGCTCTTGACTAGATAATGTGTAGCTTTAATAATAAGAAGAAAAAGAAGAATTTAGTATTGCAATCTTTATTTGCAGTAATTAATAACAATAATTTAGCATTGAAATCGTTATTGAAAGTTTTATTATAAACAATGTGTTTGGAATTATATTGATATTGTAAAGTAAAATTACAGATACTATAATTTTGGTAATTTCGCCCATCCTCTCTGTTCCCAGCATTGGTCATTTTTGAATGTGTGTTTTAGGTGGTCCGGCAGCATTTTCTCCAGGGAACCTGAGTACCAGTAGCAGTGCCAGCAGCACTCTGGGCAGTCCTGATAATGATGAATACCTTCTCTCCTTTGAAACCATCGACAAGATGAGAAGAGTCAGCTCATACTCATCCTTAAATTCTCTCATTG[G/A]TAAGATTTCCTTTTTCAGCAGCAGACAAGACCGTTATTGGTTGTTACAACTGTTTGAAATAAAAAAAAATGCAGCTGACAACAGATAAAACATTGAAGAGAGCGTTCAATAGTTTGGCCAACCTTTTATACAGGCAAAAATTAATAAAAAATAGAATAAACTGGAGTGTTGATTGTGCCTCTACTGACACTGAATCAGTTTATAACTAATCATGACAATGTTTCTTATTACTTACATTGTGTAATTGTAATATCATAATCAAATAGGTATCTGAGCAAATTTTAAGACCAATCTGTTTGTCTGTAAGAAAAGCTTGTTTAGTAGCCAATATGAAACAAATCCTTTTTATAACACTCATAATAACCATTGTGTTGTGATGAAGAGTCAGATAAGTGTAGATCCTTTTGCAGCTTTTTATCAAAATCCAGATTAGTAGCAACAATACTCAGCATAAGAAGTCACAATGGCCAATCCAATAGACAAGCAAGTGTCTGGCAAGT

Associated Phenotype:

Not determined