ZMP

PLCB2

Ensembl ID:

ENSDARG00000090381

Description:

phospholipase C, beta 2 [Source:HGNC Symbol;Acc:9055]

Human Orthologue:

PLCB2

Human Description:

phospholipase C, beta 2 [Source:HGNC Symbol;Acc:9055]

Mouse Orthologue:

Plcb2

Mouse Description:

phospholipase C, beta 2 Gene [Source:MGI Symbol;Acc:MGI:107465]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa16007	Essential Splice Site	Available for shipment	Available now
sa6455	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa16007

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
ENSDART00000121614	Essential Splice Site	120	679	3	16

Genomic Location (Zv9):

Chromosome 17 (position 1760919)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	17	2203868
GRCz11	17	2380681

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

ATGACGATCAKGATGAACAGGATGAAGAGAAGATGAAGAACTCTGATGAG[G/A]TRAACAGAAACTACAGTATTTTTGTYTATTGGCAAAAAANTGCTTCTCTTA

Long Flanking Sequence:

GGTCGGTTGGCATTTCTGTGTAGAGTTTGCATATTTTGTCCTCATGTTGGTGTGGGTTTGGGTATATGGGTGTTTCACAGTACTGGGTTGCAGCTGGAAGGACATTTGCTGCGTAAAACAATTGCTGGAATAGTTGGCAGTTCATTCCGCTGTGGTGACCACTTATTAATAAAGGCACCAAACTGAAGGAAAATTAATAAATGAAAATTGGCCATAGAGTATGAGTGTGTGTGTGTGTGTGTGAATGAGTGTGTATGGGTGTTTCCCAGTACTGGGTTGTGGCTGGAAGGGTATCCACTGTATATAACAGTTGCCAGAATAGTTGATGGTTCATTGCGCTGTCGTGACCCCTGATAAATAAGGTACTAAGCTGAAGGAAAATGGATAAATGATGAAATAATTTAACATATTCATTATTTTCTGTCAAACTGATAGAGGATCGTGAAGAGCATGACGATCATGATGAACAGGATGAAGAGAAGATGAAGAACTCTGATGAG[G/A]TGAACAGAAACTACAGTATTTTTGTTTATTGGCAAAAAATGCTTCTCTTACACTGCAAAAAATGCTTTTCTTGCTTAGATATTTTGTCTTGTTTCTAGTCTAAATATCTAAAATGTCTTATATCAAGAAGCATTTTTTAGACAAGCAAAACATATTGCCTTGTTTTGAGAAATAATATACCAATATTAAGTCAGTTTTTCCAAAAAACAAGCAAAATAATCTGCCAATAGGGTAAGCAAATTAATCTTGTTTTTTCTTTTGACGTAAGATTATTTTGCTTGTTTTAAGGAAAAACTGACTTAATATTGGCATAATATTTCTCAAAACAAGGCAATATGTTTTGCTTGTTTAGAAAATTCTTCTTGATTTAGGAACTTTTAGATATTTGGACTAGAAACAAGACAAAAAATCTAAGTAAGAAAAGCATTTTTTGCAGTGTATGTAGAGTTTTTGGTCTTTTTTTTTAGTCCTATTATCTAAAAAATCTTAAATCAAGAAGC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa6455

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:

A > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000121614	Nonsense	338	679	9	16

Genomic Location (Zv9):

Chromosome 17 (position 1753881)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	17	2196830
GRCz11	17	2373643

KASP Assay ID:

554-4183.1 (used for ordering genotyping assays)

KASP Sequence:

TCTATCCCTGTGTGTGTGAACAGGTCTTGCTGCCAGAGATGGCCTATCTC[A/T]GACTGGTGGTCCAGGAAGAAGGAGGAAAGTTCATTGGTCACCGCAWCATC

Long Flanking Sequence:

AAATGATTTTTATAATTATAATGTTCTTATTTCTGCATTTTGGTGTTCAGATTTACTCAGGTCAGTTTCTGTCAGATAAGGCTGTGAAAACCGGAGTGGAAGTGGAGCTCATCGGTTTGCCCAAAGACCCCAAACGCAAATATCGCACGAAGATGAGCAGCACAGCTAACGGCATCAACCCGGACTGGAACGAGGAGCCGTTCATCTTCGAGAAGGTCAGCGGTGCATTCACTGTGATATGAGTAATTGATAAAGTACATCCAGGAGGTTGTTATCAGTCAGAAACAGCAGCGAGACAGACAGGCAGAGAAATATGGATGTGAACGTATTCAGTGACGGTCAAGATGATTCAAAGTTCACAGATTTAAATGCTTATTTATCTGTCATGTCACAACCATTTTTTGGTTTTGTGTGTGCATTCTTGTGCGTGTGTGTGTGTGTGTGTTTTTGTCTATCCCTGTGTGTGTGAACAGGTCTTGCTGCCAGAGATGGCCTATCTC[A/T]GACTGGTGGTCCAGGAAGAAGGAGGAAAGTTCATTGGTCACCGCATCATCCCTCTGGATGCTCTTCAAACCGGTGAGACTTAACACTGATGCGCATTTATTATTATTAACGGGAGTCGACTTTAAATGAGTCTGAAAAAAGCAATACTTCAAAATTCAATTTGTGTTTGATTTGATTATGACACTTTCCAGATTAAGGGAATCAAACAATCTCCTAATCAGATTATCGTCTTGATCTTATAATTATTGTAAAACTGCTGTATTACAGTTAAAGCAATATTTGTTTTCGATTGTCTACAGAGCAAGCCAGTGTTATACAATGACTTGCCTAATTACCCTGATTGCACAATCTGCAGGTTTCCAGCACATTGGTTTGCGCAGTGAGAGTAACATGCCGCTAATGCTGCCGTCTTTGTTTGTGCATATCGAGATGAAGGACTACGTCCCCGCTGCCTTCGCTGGTGCGACATTTCACTGCAAACACTCTAAACATCACAGACA

Associated Phenotype:

Not determined