|Institutional Source||Beutler Lab|
|Gene Name||endothelin 2|
|Synonyms||VIC, vasoactive intestinal contractor peptide|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1378 (G1)|
|Chromosomal Location||120161206-120167360 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 120161898 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 28 (E28G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030384 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030384]|
|Predicted Effect||probably benign
AA Change: E28G
PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
AA Change: E28G
|Meta Mutation Damage Score||0.0637|
|Coding Region Coverage||
|Validation Efficiency||100% (57/57)|
FUNCTION: This gene encodes a member of the endothelin family of peptides. The encoded preproprotein undergoes proteolytic processing to generate a potent vasoconstrictive peptide. This gene is abundantly expressed in the gastrointestinal tract, strongly induced in photorecepteror cells in retinal diseases and injury, and produced by microglia and macrophages in the early stages of glaucoma. Mice lacking the encoded protein exhibit severe growth retardation, hypothermia and juvenile lethality. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit growth retardation, hypothermia, hypoxemic hypoxia, hypercapnia, emphysema and premature death. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Edn2||
(F):5'- AGCCAGTGGTTCCTGAACACCAAG -3'
(R):5'- AGCCCTCTGCCTGACTCTAATAGC -3'
(F):5'- AAGGGTGCCAACTTCCTTATTG -3'
(R):5'- CCTGAGATTCAGGGTGAGCAC -3'