|Institutional Source||Beutler Lab|
|Gene Name||blood vessel epicardial substance|
|Synonyms||Popdc1, popeye 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3546 (G1)|
|Chromosomal Location||45335772-45372479 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 45354811 bp|
|Amino Acid Change||Arginine to Glycine at position 293 (R293G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000093382 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000095715]|
|Predicted Effect||probably damaging
AA Change: R293G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R293G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.2643|
|Coding Region Coverage||
|Validation Efficiency||100% (31/31)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in development of these tissues. The mouse ortholog may be involved in the regeneration of adult skeletal muscle and may act as a cell adhesion molecule in coronary vasculogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous mutation of this gene results in delayed muscle regeneration following induced injury. Mice homozygous for a knock-out allele exhibit sinus brachycardia in response to physical or mental stress and catecholamines with a compact sinoatrial node. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bves||
(F):5'- CATTTTAGAGCAATTGATCACTCCC -3'
(R):5'- TATCAAACACAGGGGCATCC -3'
(F):5'- AGAGCAATTGATCACTCCCTTTTTCG -3'
(R):5'- AAACACAGGGGCATCCTTTTCTCTAG -3'