|Institutional Source||Beutler Lab|
|Gene Name||EH-domain containing 2|
|Is this an essential gene?||Probably non essential (E-score: 0.196)|
|Stock #||R2859 (G1)|
|Chromosomal Location||15946958-15967567 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 15964129 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 61 (V61E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000096397 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000098799] [ENSMUST00000144956]|
|Predicted Effect||probably damaging
AA Change: V61E
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: V61E
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.69|
|Coding Region Coverage||
|Validation Efficiency||100% (40/40)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the EH domain-containing protein family. These proteins are characterized by a C-terminal EF-hand domain, a nucleotide-binding consensus site at the N terminus and a bipartite nuclear localization signal. The encoded protein interacts with the actin cytoskeleton through an N-terminal domain and also binds to an EH domain-binding protein through the C-terminal EH domain. This interaction appears to connect clathrin-dependent endocytosis to actin, suggesting that this gene product participates in the endocytic pathway. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ehd2||
(F):5'- CCAAAAGGGTTGAGTTTGCG -3'
(R):5'- CATCGAAAGTCACCATGTTCAGC -3'
(F):5'- AAGGGCTTCTCTGGGTCCAC -3'
(R):5'- ACCATGTTCAGCTGGCTG -3'