Mutagenetix > Incidental Mutation

Incidental Mutation 'R6562:Ehd2'

522451

Institutional Source

Beutler Lab

Gene Symbol

Ehd2

Ensembl Gene

ENSMUSG00000074364

Gene Name

EH-domain containing 2

Synonyms

C130052H20Rik

MMRRC Submission

044686-MU

Accession Numbers

Essential gene?

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

Stock #

R6562 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15680883-15701402 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 15691492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 280 (R280L)

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 benign
Transcript: ENSMUST00000098799
AA Change: R280L

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000096397
Gene: ENSMUSG00000074364
AA Change: R280L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.9%

Validation Efficiency

100% (60/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 89,970,543 (GRCm39)	K26E	probably benign	Het
Abt1	T	G	13: 23,607,758 (GRCm39)	E82A	probably damaging	Het
Actr8	A	G	14: 29,708,411 (GRCm39)		probably null	Het
Akap12	G	T	10: 4,306,141 (GRCm39)	E984*	probably null	Het
Ankrd13a	C	A	5: 114,942,453 (GRCm39)		probably benign	Het
Ankrd13c	T	A	3: 157,705,309 (GRCm39)	S411T	probably damaging	Het
Arhgef28	A	G	13: 98,124,647 (GRCm39)		probably null	Het
Arhgef3	A	T	14: 26,874,953 (GRCm39)		probably benign	Het
Atad5	T	C	11: 80,024,032 (GRCm39)	S1712P	probably benign	Het
Bbs12	A	G	3: 37,374,389 (GRCm39)	E394G	probably damaging	Het
Ccdc158	T	G	5: 92,810,581 (GRCm39)	K102N	probably damaging	Het
Ccdc169	A	G	3: 55,058,235 (GRCm39)	N89S	probably damaging	Het
Cd200l1	C	T	16: 45,264,442 (GRCm39)	E39K	probably benign	Het
Cenpu	T	C	8: 47,025,858 (GRCm39)	I132T	possibly damaging	Het
Cnrip1	G	A	11: 17,028,539 (GRCm39)	W157*	probably null	Het
Ctnnd1	A	G	2: 84,454,652 (GRCm39)	S53P	probably benign	Het
Dcpp3	AGGCCATGCTGGCC	AGGCC	17: 24,136,572 (GRCm39)		probably benign	Het
Dock7	A	T	4: 98,879,647 (GRCm39)	V969D	probably damaging	Het
Entpd5	T	C	12: 84,432,974 (GRCm39)	T218A	probably damaging	Het
Fcrl2	A	C	3: 87,164,635 (GRCm39)	I297S	probably benign	Het
Frmpd2	T	A	14: 33,293,872 (GRCm39)	L1346Q	probably benign	Het
Fry	T	C	5: 150,249,614 (GRCm39)	S142P	probably damaging	Het
Gbgt1	A	T	2: 28,394,898 (GRCm39)	I179F	probably damaging	Het
Gm17067	A	T	7: 42,358,153 (GRCm39)	S116R	probably damaging	Het
Gm5565	G	T	5: 146,094,964 (GRCm39)	P261T	probably damaging	Het
Kat6a	T	C	8: 23,401,803 (GRCm39)	F391L	probably benign	Het
Kcnmb4	A	T	10: 116,309,089 (GRCm39)		probably null	Het
Krt6a	T	A	15: 101,600,094 (GRCm39)	H386L	probably benign	Het
L3mbtl1	C	T	2: 162,812,124 (GRCm39)	T723I	probably benign	Het
Lamb2	A	T	9: 108,364,207 (GRCm39)	R1049W	possibly damaging	Het
Lrmda	T	C	14: 22,648,254 (GRCm39)		probably benign	Het
Lysmd2	C	T	9: 75,542,691 (GRCm39)	T95I	unknown	Het
Ndst3	A	G	3: 123,346,181 (GRCm39)	S698P	probably damaging	Het
Nin	T	C	12: 70,102,728 (GRCm39)	D300G	probably damaging	Het
Nutf2	G	T	8: 106,602,258 (GRCm39)	D23Y	probably benign	Het
Or6c211	G	A	10: 129,506,008 (GRCm39)	P127S	probably damaging	Het
Ovgp1	A	G	3: 105,887,589 (GRCm39)	Y300C	probably damaging	Het
Pgghg	A	G	7: 140,526,506 (GRCm39)	I633V	probably benign	Het
Pik3r3	C	T	4: 116,157,006 (GRCm39)	Q496*	probably null	Het
Pkn3	G	T	2: 29,970,699 (GRCm39)		probably null	Het
Plin2	A	T	4: 86,576,832 (GRCm39)	S298T	probably benign	Het
Prdm8	T	C	5: 98,331,202 (GRCm39)	V18A	possibly damaging	Het
Rel	C	A	11: 23,707,026 (GRCm39)	G59*	probably null	Het
Siglecg	A	G	7: 43,058,481 (GRCm39)	R123G	possibly damaging	Het
Slc13a1	T	A	6: 24,150,792 (GRCm39)	I49F	probably benign	Het
Slc39a10	T	A	1: 46,874,724 (GRCm39)	T193S	probably benign	Het
Slc9a3	T	A	13: 74,303,280 (GRCm39)	V191E	probably damaging	Het
Spata31e2	T	A	1: 26,721,443 (GRCm39)	T1246S	possibly damaging	Het
Sult2b1	A	C	7: 45,391,670 (GRCm39)	S39A	probably benign	Het
Tead1	A	G	7: 112,460,650 (GRCm39)	T185A	probably benign	Het
Tmem67	A	G	4: 12,053,445 (GRCm39)		probably null	Het
Trim12c	A	T	7: 103,994,341 (GRCm39)		probably null	Het
Trpm6	T	A	19: 18,815,406 (GRCm39)	F1164Y	probably damaging	Het
Ube2d1	C	T	10: 71,098,071 (GRCm39)	D16N	probably benign	Het
Vmn2r24	A	T	6: 123,757,386 (GRCm39)	I85F	probably benign	Het
Vwde	T	A	6: 13,193,122 (GRCm39)	N406Y	possibly damaging	Het
Wdr54	A	T	6: 83,132,050 (GRCm39)		probably null	Het
Zcchc14	A	T	8: 122,330,842 (GRCm39)	N840K	probably damaging	Het
Zfp451	C	A	1: 33,801,260 (GRCm39)	S1052I	possibly 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
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
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
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'- TTCAGCGCTCATACAGCCTC -3'
(R):5'- GATGAATTCTCGGAGGCCATC -3'

Sequencing Primer
(F):5'- GCTCATACAGCCTCCTGAC -3'
(R):5'- GATAAGATCCGCGTGGTACTC -3'

Posted On

2018-06-06