|Institutional Source||Beutler Lab|
|Gene Name||EH-domain containing 2|
|Essential gene?||Probably non essential (E-score: 0.117)|
|Stock #||R8810 (G1)|
|Chromosomal Location||15946958-15967567 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 15957678 bp (GRCm38)|
|Amino Acid Change||Valine to Alanine at position 243 (V243A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000096397 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000098799] [ENSMUST00000144956]|
Crystal structure of an EHD ATPase involved in membrane remodelling [X-RAY DIFFRACTION]
Structural insights into the N-terminus of the EHD2 ATPase [X-RAY DIFFRACTION]
AA Change: V243A
PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: V243A
|Coding Region Coverage||
|Validation Efficiency||99% (82/83)|
|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'- CCGTTTCACTAGGTCGTTGAG -3'
(R):5'- TTGCTCCAGGCTACGACTTC -3'
(F):5'- CACTAGGTCGTTGAGCTTGC -3'
(R):5'- TGAACGCGTGGACCTCATCATC -3'