|Institutional Source||Beutler Lab|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5305 (G1)|
|Chromosomal Location||91139599-91148432 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 91144449 bp|
|Amino Acid Change||Alanine to Serine at position 203 (A203S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031325 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031325]|
|Predicted Effect||probably damaging
AA Change: A203S
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: A203S
|Meta Mutation Damage Score||0.2133|
|Coding Region Coverage||
|Validation Efficiency||99% (67/68)|
FUNCTION: This gene encodes a member of the epidermal growth factor (EGF) family and preproprotein that is proteolytically processed to generate a mature protein product. The encoded protein is a ligand of the epidermal growth factor receptor (EGFR) and has been shown to play a role in immunity, inflammation, tissue repair, and lung and mammary gland development. Homozygous knockout mice for this gene exhibit impaired immune system regulation in the skin and gene expression changes characteristic of chronic liver damage. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired development of mammary gland ducts in pubescent females. Mutant ducts show retarded elongation with few terminal end buds. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Areg||
(F):5'- AATGGCGTGACCTCTCTATGTTC -3'
(R):5'- GTCAAAGGAATGCAAGGTTTGATTC -3'
(F):5'- AGTGACCGTATCATTAGGTAGTATG -3'
(R):5'- GATTCTATTCTGCTCAGGGGTCAC -3'