|Institutional Source||Beutler Lab|
|Gene Name||adducin 3 (gamma)|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5951 (G1)|
|Chromosomal Location||53140445-53247399 bp(+) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||A to G at 53244289 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000107370 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025999] [ENSMUST00000050096] [ENSMUST00000111741]|
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||100% (78/78)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal blood pressure and show no significant alterations in red blood cell or platelet structure and function. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Add3||
(F):5'- AACGCATTCAGTCTCTGTCTG -3'
(R):5'- GGACAAACGACAGGGCTTAC -3'
(F):5'- CAAGTTACTGTTCATGGCCAG -3'
(R):5'- CGACAGGGCTTACGAGGG -3'