Incidental Mutation 'R2857:Ehd2'
| ID |
252472 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehd2
|
| Ensembl Gene |
ENSMUSG00000074364 |
| Gene Name |
EH-domain containing 2 |
| Synonyms |
C130052H20Rik |
| MMRRC Submission |
040447-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.245)
|
| Stock # |
R2857 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
15680883-15701402 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 15698054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
Q8BH64 |
| 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 |
probably damaging
Transcript: ENSMUST00000098799
AA Change: V61E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096397
Gene: ENSMUSG00000074364
AA Change: V61E
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| SMART Domains |
Protein: ENSMUSP00000119933
Gene: ENSMUSG00000074364
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMR_HSR1
|
4 |
84 |
2.4e-7 |
PFAM |
|
Pfam:Dynamin_N
|
4 |
85 |
1.8e-10 |
PFAM |
|
| Meta Mutation Damage Score |
0.9593 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330087D11Rik |
A |
T |
7: 29,273,303 (GRCm39) |
|
noncoding transcript |
Het |
| Amfr |
A |
T |
8: 94,731,842 (GRCm39) |
N11K |
probably damaging |
Het |
| Bpifa6 |
G |
A |
2: 153,831,194 (GRCm39) |
M253I |
probably benign |
Het |
| C330018D20Rik |
A |
G |
18: 57,095,531 (GRCm39) |
L18P |
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,218,432 (GRCm39) |
|
probably null |
Het |
| Ceacam1 |
T |
A |
7: 25,173,442 (GRCm39) |
I249F |
probably damaging |
Het |
| Cfap54 |
C |
T |
10: 92,881,144 (GRCm39) |
R348Q |
probably damaging |
Het |
| Cfap91 |
A |
C |
16: 38,123,075 (GRCm39) |
L651R |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cuzd1 |
C |
T |
7: 130,917,863 (GRCm39) |
V246M |
probably damaging |
Het |
| Erich5 |
C |
T |
15: 34,471,560 (GRCm39) |
T263I |
probably damaging |
Het |
| Fbxo36 |
A |
G |
1: 84,874,316 (GRCm39) |
K104R |
probably benign |
Het |
| Fibin |
C |
T |
2: 110,192,542 (GRCm39) |
R200H |
probably damaging |
Het |
| Gad2 |
A |
C |
2: 22,563,987 (GRCm39) |
M397L |
probably benign |
Het |
| Garin3 |
T |
C |
11: 46,296,039 (GRCm39) |
I137T |
probably damaging |
Het |
| Iqgap3 |
C |
A |
3: 88,014,903 (GRCm39) |
S873* |
probably null |
Het |
| Kcnh8 |
A |
G |
17: 53,284,961 (GRCm39) |
D977G |
probably benign |
Het |
| Mau2 |
T |
C |
8: 70,472,474 (GRCm39) |
M570V |
probably benign |
Het |
| Mrgprb4 |
T |
A |
7: 47,848,084 (GRCm39) |
R281S |
possibly damaging |
Het |
| Mthfd1 |
T |
C |
12: 76,335,699 (GRCm39) |
Y258H |
probably damaging |
Het |
| Nexn |
C |
T |
3: 151,953,680 (GRCm39) |
E247K |
probably damaging |
Het |
| Or11g27 |
T |
A |
14: 50,770,897 (GRCm39) |
N9K |
probably benign |
Het |
| Or3a10 |
C |
T |
11: 73,935,653 (GRCm39) |
G149D |
possibly damaging |
Het |
| Or9e1 |
T |
A |
11: 58,732,708 (GRCm39) |
V256E |
probably benign |
Het |
| Phrf1 |
T |
A |
7: 140,839,593 (GRCm39) |
|
probably benign |
Het |
| Prc1 |
A |
G |
7: 79,961,969 (GRCm39) |
N52S |
probably damaging |
Het |
| Psd |
G |
C |
19: 46,312,859 (GRCm39) |
S170R |
probably benign |
Het |
| Riok1 |
T |
C |
13: 38,233,053 (GRCm39) |
F229L |
probably damaging |
Het |
| Slco1a7 |
A |
G |
6: 141,690,264 (GRCm39) |
V163A |
probably benign |
Het |
| Stat2 |
A |
G |
10: 128,112,770 (GRCm39) |
|
probably null |
Het |
| Sycp3 |
A |
G |
10: 88,303,234 (GRCm39) |
E166G |
probably damaging |
Het |
| Szt2 |
G |
A |
4: 118,226,599 (GRCm39) |
T510I |
probably damaging |
Het |
| Trank1 |
A |
T |
9: 111,196,001 (GRCm39) |
T1342S |
probably benign |
Het |
| Trav3-1 |
C |
A |
14: 52,818,515 (GRCm39) |
A63E |
probably benign |
Het |
| Trim34b |
A |
T |
7: 103,985,439 (GRCm39) |
N358I |
probably benign |
Het |
| Trmt11 |
G |
C |
10: 30,423,744 (GRCm39) |
P387R |
probably damaging |
Het |
| Vmn2r82 |
T |
A |
10: 79,217,090 (GRCm39) |
I474N |
probably damaging |
Het |
| Vrk2 |
C |
A |
11: 26,433,324 (GRCm39) |
S286I |
possibly damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,023,796 (GRCm39) |
I2451N |
probably benign |
Het |
| Zfp326 |
G |
A |
5: 106,036,395 (GRCm39) |
R102H |
probably benign |
Het |
|
| Other mutations in Ehd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00799:Ehd2
|
APN |
7 |
15,697,392 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03117:Ehd2
|
APN |
7 |
15,684,396 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0485:Ehd2
|
UTSW |
7 |
15,686,001 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1858:Ehd2
|
UTSW |
7 |
15,686,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2151:Ehd2
|
UTSW |
7 |
15,686,128 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2859:Ehd2
|
UTSW |
7 |
15,698,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5965:Ehd2
|
UTSW |
7 |
15,685,999 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6175:Ehd2
|
UTSW |
7 |
15,697,389 (GRCm39) |
nonsense |
probably null |
|
|
R6562:Ehd2
|
UTSW |
7 |
15,691,492 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6874:Ehd2
|
UTSW |
7 |
15,684,363 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7400:Ehd2
|
UTSW |
7 |
15,684,581 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7552:Ehd2
|
UTSW |
7 |
15,684,431 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7644:Ehd2
|
UTSW |
7 |
15,691,474 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7792:Ehd2
|
UTSW |
7 |
15,684,683 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8167:Ehd2
|
UTSW |
7 |
15,697,917 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8716:Ehd2
|
UTSW |
7 |
15,698,106 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8810:Ehd2
|
UTSW |
7 |
15,691,603 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9123:Ehd2
|
UTSW |
7 |
15,684,626 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9469:Ehd2
|
UTSW |
7 |
15,684,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9500:Ehd2
|
UTSW |
7 |
15,686,077 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Z1088:Ehd2
|
UTSW |
7 |
15,697,391 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Ehd2
|
UTSW |
7 |
15,691,830 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAAAGGGTTGAGTTTGCGG -3'
(R):5'- CATCGAAAGTCACCATGTTCAG -3'
Sequencing Primer
(F):5'- AAGGGCTTCTCTGGGTCCAC -3'
(R):5'- GAAAGTCACCATGTTCAGCTGGC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation