|Institutional Source||Beutler Lab|
|Gene Name||ankyrin repeat domain 2 (stretch responsive muscle)|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||IGL03050 (G1)|
|Chromosomal Location||42036038-42045110 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 42040094 bp|
|Amino Acid Change||Arginine to Histidine at position 63 (R63H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026172 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026172]|
|Predicted Effect||probably damaging
AA Change: R63H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R63H
|Coding Region Coverage||
|Validation Efficiency||95% (41/43)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretch-response associated with slow muscle function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for a null allele are viable, fertile and free of cardiac defects but exhibit altered inflammatory responses and are prone to skeletal muscle fiber-type switching of slow fibers toward a faster phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ankrd2||
(F):5'- ACTTCGAAGATCCGCTCCTG -3'
(R):5'- TGTCTAAATCAGGAGCCTTACG -3'
(F):5'- CCATGGACATGCTAGTGCTAG -3'
(R):5'- GTCTAAATCAGGAGCCTTACGATCTC -3'