Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03117:Ehd2'

419477

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ehd2

Ensembl Gene

ENSMUSG00000074364

Gene Name

EH-domain containing 2

Synonyms

C130052H20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.213) question?

Stock #

IGL03117

Quality Score

Status

Chromosome

Chromosomal Location

15680883-15701402 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15684396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 468 (S468G)

Ref Sequence

ENSEMBL: ENSMUSP00000096397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044158] [ENSMUST00000098799]

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 benign
Transcript: ENSMUST00000044158

SMART Domains

Protein: ENSMUSP00000043981
Gene: ENSMUSG00000041560

Domain	Start	End	E-Value	Type
Pfam:Nop53	41	451	6e-102	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098799
AA Change: S468G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096397
Gene: ENSMUSG00000074364
AA Change: S468G

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

noncoding transcript
Transcript: ENSMUST00000175508

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198688

SMART Domains

Protein: ENSMUSP00000143400
Gene: ENSMUSG00000041560

Domain	Start	End	E-Value	Type
Pfam:Nop53	1	156	1.4e-47	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200455

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna2d3	A	G	14: 29,189,909 (GRCm39)	L109P	probably damaging	Het
Caprin2	A	T	6: 148,763,964 (GRCm39)	S568T	possibly damaging	Het
Catip	A	G	1: 74,403,744 (GRCm39)	T154A	probably null	Het
Ccdc187	A	G	2: 26,177,980 (GRCm39)	S270P	possibly damaging	Het
Ccdc88a	A	G	11: 29,324,559 (GRCm39)	Y39C	probably damaging	Het
Chrdl2	A	T	7: 99,676,787 (GRCm39)	H203L	possibly damaging	Het
Chrnb2	A	G	3: 89,670,552 (GRCm39)	V62A	probably damaging	Het
Cklf	T	A	8: 104,984,055 (GRCm39)	S73T	possibly damaging	Het
Clk1	A	G	1: 58,456,166 (GRCm39)		probably null	Het
Ctdp1	T	C	18: 80,492,716 (GRCm39)	D593G	probably damaging	Het
Ctsc	A	T	7: 87,958,988 (GRCm39)	I423F	probably damaging	Het
D130043K22Rik	T	A	13: 25,073,825 (GRCm39)	V968E	probably damaging	Het
Dennd4c	A	G	4: 86,696,140 (GRCm39)	S166G	possibly damaging	Het
Dnah2	G	T	11: 69,327,117 (GRCm39)		probably benign	Het
Dnajb11	G	T	16: 22,687,888 (GRCm39)	R206L	probably benign	Het
Dsel	A	T	1: 111,786,908 (GRCm39)		probably benign	Het
Ehmt2	T	A	17: 35,125,787 (GRCm39)	V640E	possibly damaging	Het
Elmo2	T	A	2: 165,140,573 (GRCm39)	E299D	probably benign	Het
Eps8l1	T	C	7: 4,473,886 (GRCm39)	L231P	probably damaging	Het
Esd	A	G	14: 74,978,686 (GRCm39)	T83A	probably damaging	Het
Flt3	A	G	5: 147,293,020 (GRCm39)	F529L	probably benign	Het
Hnrnpu	G	A	1: 178,158,339 (GRCm39)		probably benign	Het
Hpx	G	T	7: 105,249,278 (GRCm39)	A7E	possibly damaging	Het
Ighv6-5	C	T	12: 114,380,320 (GRCm39)	V85M	possibly damaging	Het
Itpr3	G	A	17: 27,338,240 (GRCm39)	V2503I	probably damaging	Het
Itprid1	A	G	6: 55,875,114 (GRCm39)	T355A	probably benign	Het
Matr3	G	T	18: 35,705,710 (GRCm39)	G212C	probably damaging	Het
Mrpl35	A	T	6: 71,793,263 (GRCm39)	Y129*	probably null	Het
Myh2	T	C	11: 67,071,710 (GRCm39)	I509T	possibly damaging	Het
Nat8l	G	T	5: 34,158,288 (GRCm39)	A233S	probably damaging	Het
Nipbl	A	C	15: 8,361,936 (GRCm39)	L1447W	probably damaging	Het
Paf1	T	A	7: 28,094,481 (GRCm39)	C31S	possibly damaging	Het
Parp4	A	C	14: 56,840,313 (GRCm39)	T573P	probably benign	Het
Phf12	A	T	11: 77,913,846 (GRCm39)		probably benign	Het
Pi4k2b	A	G	5: 52,905,765 (GRCm39)	E102G	probably benign	Het
Pou2f1	A	G	1: 165,762,382 (GRCm39)	C7R	probably benign	Het
Prpsap2	T	C	11: 61,631,815 (GRCm39)	R181G	probably benign	Het
Psd	A	G	19: 46,311,561 (GRCm39)		probably benign	Het
Ptgds	T	C	2: 25,359,622 (GRCm39)	T22A	probably benign	Het
Rab21	A	T	10: 115,151,097 (GRCm39)		probably null	Het
Relb	T	C	7: 19,346,582 (GRCm39)	D330G	probably damaging	Het
Rhoc	A	T	3: 104,700,236 (GRCm39)	T100S	probably benign	Het
Ryr1	G	T	7: 28,802,389 (GRCm39)	H744N	probably damaging	Het
Sardh	C	T	2: 27,129,458 (GRCm39)	G280D	probably damaging	Het
Scyl2	A	C	10: 89,493,729 (GRCm39)	N346K	possibly damaging	Het
Sec16b	T	C	1: 157,362,970 (GRCm39)	F267S	probably damaging	Het
Slc44a5	T	A	3: 153,956,714 (GRCm39)	M322K	probably benign	Het
St8sia4	T	A	1: 95,519,508 (GRCm39)	N327Y	probably benign	Het
Tbl1xr1	T	A	3: 22,257,323 (GRCm39)	Y395*	probably null	Het
Unc13c	A	T	9: 73,441,307 (GRCm39)	S1897R	probably benign	Het
Vangl2	A	G	1: 171,840,415 (GRCm39)	S58P	probably damaging	Het
Vmn1r17	A	G	6: 57,337,501 (GRCm39)	I288T	probably benign	Het
Vmn1r236	A	G	17: 21,507,508 (GRCm39)	I209V	probably benign	Het
Zfp809	A	G	9: 22,149,950 (GRCm39)	Y149C	probably damaging	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
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
R2857:Ehd2	UTSW	7	15,698,054 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2016-08-02