|Institutional Source||Beutler Lab|
|Gene Name||armadillo repeat containing 5|
|Is this an essential gene?||Probably essential (E-score: 0.819)|
|Stock #||R4679 (G1)|
|Chromosomal Location||128237342-128245100 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 128240104 bp|
|Amino Acid Change||Glutamic Acid to Valine at position 198 (E198V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000040568 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044660] [ENSMUST00000078816]|
|Predicted Effect||possibly damaging
AA Change: E198V
PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: E198V
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0943|
|Coding Region Coverage||
|Validation Efficiency||98% (112/114)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is a tandemly repeated sequence motif with approximately 40 amino acid long. This repeat is implicated in mediating protein-protein interactions. The encoded protein contains seven ARM repeats. Mutations in this gene are associated with primary bilateral macronodular adrenal hyperplasia, which is also known as ACTH-independent macronodular adrenal hyperplasia 2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality with defects in mesoderm formation and gastrulation. The few survbiving mice are smaller than normal. Mice heterozygous for the same allele exhibit abnormal adrenocortical morphology and function. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Armc5||
(F):5'- TGTGTGAAGACAGACAGCATC -3'
(R):5'- TGAGTTCCAAGAGAGCACG -3'
(F):5'- TGTGAAGACAGACAGCATCCAGAAC -3'
(R):5'- TTCCAAGAGAGCACGGACTAG -3'