|Institutional Source||Beutler Lab|
|Gene Name||HECT and RLD domain containing E3 ubiquitin protein ligase 2|
|Synonyms||D7H15F37S1, D7H15F32S1, rjs, jdf2, D15F32S1h|
|Essential gene?||Probably essential (E-score: 0.932)|
|Stock #||R7847 (G1)|
|Chromosomal Location||56050196-56231800 bp(+) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||T to C at 56157560 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000075579 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000076226] [ENSMUST00000164095] [ENSMUST00000205303]|
|AlphaFold||no structure available at present|
|Coding Region Coverage||
|Validation Efficiency||100% (45/45)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygotes for null mutations exhibit runting, nervousness, and incoordination. Males are sterile with sperm abnormalities, while females show reduced fertility and impaired maternal ability. Also see alleles at the Oca2 (p) locus for deletions that encompass the Herc2 gene. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Herc2||
(F):5'- CAACCCCAGTCTCTGTACAG -3'
(R):5'- AGGGTAAGGGGTATCATCCAC -3'
(F):5'- AGCACATCCATCTTGCCAGGG -3'
(R):5'- GGTAAGGGGTATCATCCACATCTTC -3'