Mutagenetix > Incidental Mutation

Incidental Mutation 'R6874:Ehd2'

536307

Institutional Source

Beutler Lab

Gene Symbol

Ehd2

Ensembl Gene

ENSMUSG00000074364

Gene Name

EH-domain containing 2

Synonyms

C130052H20Rik

MMRRC Submission

045029-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.245) question?

Stock #

R6874 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15680883-15701402 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15684363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 479 (T479S)

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

probably benign
Transcript: ENSMUST00000098799
AA Change: T479S

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000096397
Gene: ENSMUSG00000074364
AA Change: T479S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,851,428 (GRCm39)	D802G	possibly damaging	Het
Acsl5	A	G	19: 55,280,295 (GRCm39)	T523A	probably damaging	Het
Adamts7	A	T	9: 90,070,784 (GRCm39)	D635V	probably damaging	Het
Akr1c12	C	A	13: 4,322,959 (GRCm39)	G217C	probably benign	Het
Astn1	C	A	1: 158,491,644 (GRCm39)	S1007*	probably null	Het
Cntln	T	C	4: 84,985,996 (GRCm39)	L988P	probably damaging	Het
Dcps	A	T	9: 35,087,263 (GRCm39)	M1K	probably null	Het
Dnai1	T	A	4: 41,632,412 (GRCm39)	L582Q	probably damaging	Het
Dst	A	T	1: 34,328,732 (GRCm39)	Q7118L	probably benign	Het
Fbxl7	T	C	15: 26,553,028 (GRCm39)	I80V	probably benign	Het
Fry	T	C	5: 150,360,768 (GRCm39)	V125A	probably benign	Het
Gm12695	A	T	4: 96,673,306 (GRCm39)	I31K	probably benign	Het
Gm5591	T	C	7: 38,219,715 (GRCm39)	E386G	probably damaging	Het
Helz	G	T	11: 107,554,460 (GRCm39)	R1219S	probably damaging	Het
Hes3	G	T	4: 152,371,695 (GRCm39)	P85T	possibly damaging	Het
Igkv3-2	A	T	6: 70,675,822 (GRCm39)	R44*	probably null	Het
Igsf9	A	G	1: 172,322,096 (GRCm39)	T496A	probably benign	Het
Irf2bp1	G	T	7: 18,739,142 (GRCm39)	A261S	possibly damaging	Het
Jph2	G	A	2: 163,181,407 (GRCm39)	P586S	probably benign	Het
Klhl11	T	C	11: 100,363,031 (GRCm39)	H175R	probably benign	Het
Ksr2	G	T	5: 117,894,401 (GRCm39)	E847*	probably null	Het
Lats1	T	A	10: 7,586,615 (GRCm39)	Y926N	probably damaging	Het
Lmbr1	A	T	5: 29,497,904 (GRCm39)	L33H	probably damaging	Het
Lrp10	T	C	14: 54,705,670 (GRCm39)	S287P	possibly damaging	Het
Map3k6	G	A	4: 132,977,967 (GRCm39)	E976K	probably benign	Het
Mfsd6	T	A	1: 52,699,868 (GRCm39)	D760V	probably benign	Het
Muc16	G	T	9: 18,570,065 (GRCm39)	S818*	probably null	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Nagpa	T	C	16: 5,013,921 (GRCm39)	T306A	probably benign	Het
Nisch	G	T	14: 30,898,641 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 90,298,964 (GRCm39)	V1028A	probably damaging	Het
Nucb1	T	C	7: 45,152,618 (GRCm39)	N75S	probably benign	Het
Or11a4	T	C	17: 37,536,238 (GRCm39)	V74A	probably benign	Het
Or1e1d-ps1	T	G	11: 73,819,068 (GRCm39)	M6R	probably null	Het
Or51a43	T	A	7: 103,717,396 (GRCm39)	I281F	possibly damaging	Het
Or5h23	T	A	16: 58,906,312 (GRCm39)	Y178F	probably benign	Het
Or7g19	T	A	9: 18,856,777 (GRCm39)	Y278N	possibly damaging	Het
Or8b57	A	G	9: 40,004,022 (GRCm39)	V80A	probably benign	Het
Or8k24	C	T	2: 86,215,872 (GRCm39)	V297I	possibly damaging	Het
Pik3c2a	A	G	7: 115,993,540 (GRCm39)	L409S	probably damaging	Het
Pkhd1l1	T	A	15: 44,452,923 (GRCm39)	D3949E	probably benign	Het
Prune2	C	A	19: 17,100,592 (GRCm39)	P2032Q	probably damaging	Het
Ptms	T	C	6: 124,891,194 (GRCm39)		probably benign	Het
Ptp4a3	A	G	15: 73,595,259 (GRCm39)		probably benign	Het
Ptprq	T	C	10: 107,554,460 (GRCm39)	I88M	possibly damaging	Het
Radil	T	A	5: 142,492,557 (GRCm39)	D357V	probably damaging	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Supt20	A	G	3: 54,635,175 (GRCm39)		probably null	Het
Thoc5	T	C	11: 4,851,261 (GRCm39)	I69T	probably damaging	Het
Trib2	G	C	12: 15,865,338 (GRCm39)	S79W	probably damaging	Het
Trpc6	A	G	9: 8,680,439 (GRCm39)	D889G	probably damaging	Het
Usf3	T	C	16: 44,040,103 (GRCm39)	S1528P	probably benign	Het
Vax1	A	T	19: 59,156,955 (GRCm39)	V126E	unknown	Het
Vgf	A	G	5: 137,060,386 (GRCm39)		probably benign	Het
Vmn2r1	T	A	3: 64,012,376 (GRCm39)	C746S	probably damaging	Het
Vmn2r77	A	G	7: 86,451,286 (GRCm39)	T391A	probably benign	Het
Zfp738	C	A	13: 67,818,382 (GRCm39)	E536D	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
R6562:Ehd2	UTSW	7	15,691,492 (GRCm39)	missense	probably benign	0.04
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'- TCTGTCGTCGCTTAGAAGGC -3'
(R):5'- AAGCTTATGCCGCTGCTTCG -3'

Sequencing Primer
(F):5'- TCGCTTAGAAGGCGGCAC -3'
(R):5'- TCGAGGCTGGAGTGCAG -3'

Posted On

2018-10-18