|Institutional Source||Beutler Lab|
|Gene Name||sprouty RTK signaling antagonist 2|
|Is this an essential gene?||Probably essential (E-score: 0.919)|
|Stock #||R0843 (G1)|
|Chromosomal Location||105891947-105896819 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 105893090 bp|
|Amino Acid Change||Cysteine to Arginine at position 221 (C221R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022709 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022709]|
|Predicted Effect||probably damaging
AA Change: C221R
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: C221R
|Meta Mutation Damage Score||0.8977|
|Coding Region Coverage||
|Validation Efficiency||98% (40/41)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the sprouty family. The encoded protein contains a carboxyl-terminal cysteine-rich domain essential for the inhibitory activity on receptor tyrosine kinase signaling proteins and is required for growth factor stimulated translocation of the protein to membrane ruffles. In primary dermal endothelial cells this gene is transiently upregulated in response to fibroblast growth factor two. This protein is indirectly involved in the non-cell autonomous inhibitory effect on fibroblast growth factor two signaling. The protein interacts with Cas-Br-M (murine) ectropic retroviral transforming sequence, and can function as a bimodal regulator of epidermal growth factor receptor/mitogen-activated protein kinase signaling. This protein may play a role in alveoli branching during lung development as shown by a similar mouse protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit enteric nerve hyperplasia which led to esophangeal achalasia and intestinal pseudo-obstruction. Mice also have intermediate to severe hearing loss with abnormalities in the organ of Corti and about half die prematurely. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Spry2||
(F):5'- GGGCGGAGCAACAATCCCTATTAC -3'
(R):5'- AGCCACTGAGCAAGGATGATTTGG -3'
(F):5'- CAGTGGGAACTTTGCAGC -3'
(R):5'- CTGGATCTGTGACAAGCAGT -3'