Incidental Mutation 'IGL00799:Ehd2'
ID10452
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ehd2
Ensembl Gene ENSMUSG00000074364
Gene NameEH-domain containing 2
SynonymsC130052H20Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.224) question?
Stock #IGL00799
Quality Score
Status
Chromosome7
Chromosomal Location15946958-15967567 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 15963467 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 139 (A139T)
Ref Sequence ENSEMBL: ENSMUSP00000096397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098799] [ENSMUST00000144956]
PDB Structure
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]
Predicted Effect possibly damaging
Transcript: ENSMUST00000098799
AA Change: A139T

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000096397
Gene: ENSMUSG00000074364
AA Change: A139T

DomainStartEndE-ValueType
Pfam:EHD_N 24 56 4.1e-19 PFAM
Pfam:MMR_HSR1 60 220 2.2e-7 PFAM
Pfam:Dynamin_N 61 221 2.4e-14 PFAM
EH 443 536 2.96e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144956
AA Change: A3T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000119933
Gene: ENSMUSG00000074364
AA Change: A3T

DomainStartEndE-ValueType
Pfam:MMR_HSR1 4 84 2.4e-7 PFAM
Pfam:Dynamin_N 4 85 1.8e-10 PFAM
Coding Region Coverage
Validation Efficiency
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
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI314180 T A 4: 58,828,047 I981F possibly damaging Het
Boc G T 16: 44,492,955 D515E probably benign Het
Cenpe T A 3: 135,228,917 probably null Het
Ctcf A G 8: 105,677,336 D608G unknown Het
Dab2ip A G 2: 35,707,775 I99V probably benign Het
Fam151b C A 13: 92,477,853 K42N probably damaging Het
Gapvd1 A T 2: 34,699,860 D1002E probably benign Het
Gm13124 A T 4: 144,555,273 H316Q probably benign Het
Gusb T C 5: 129,999,381 Y290C probably damaging Het
Hoxd10 A G 2: 74,692,442 S155G probably benign Het
Hp A G 8: 109,575,618 probably null Het
Ift122 T C 6: 115,877,536 S112P probably damaging Het
Iqgap2 A G 13: 95,657,944 probably benign Het
Mtbp T A 15: 55,617,508 L290* probably null Het
Nr5a2 T A 1: 136,890,798 D330V probably damaging Het
R3hdm1 T A 1: 128,174,963 L157Q probably damaging Het
Rad21 A T 15: 51,976,125 D116E possibly damaging Het
Slc23a3 A T 1: 75,133,281 I114N possibly damaging Het
Syne1 A G 10: 5,347,878 I1140L probably benign Het
Other mutations in Ehd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03117:Ehd2 APN 7 15950471 missense possibly damaging 0.81
R0485:Ehd2 UTSW 7 15952076 missense probably benign 0.07
R1858:Ehd2 UTSW 7 15952188 missense probably benign 0.00
R2151:Ehd2 UTSW 7 15952203 missense probably damaging 0.96
R2857:Ehd2 UTSW 7 15964129 missense probably damaging 1.00
R2859:Ehd2 UTSW 7 15964129 missense probably damaging 1.00
R5965:Ehd2 UTSW 7 15952074 missense possibly damaging 0.94
R6175:Ehd2 UTSW 7 15963464 nonsense probably null
R6562:Ehd2 UTSW 7 15957567 missense probably benign 0.04
R6874:Ehd2 UTSW 7 15950438 missense probably benign 0.23
R7400:Ehd2 UTSW 7 15950656 missense possibly damaging 0.57
Z1088:Ehd2 UTSW 7 15963466 missense possibly damaging 0.94
Posted On2012-12-06