Mutagenetix > Incidental Mutation

Incidental Mutation 'R4974:Epha2'

382474

Institutional Source

Beutler Lab

Gene Symbol

Epha2

Ensembl Gene

ENSMUSG00000006445

Gene Name

Eph receptor A2

Synonyms

Sek2, Eck, Myk2, Sek-2

MMRRC Submission

042569-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.692) question?

Stock #

R4974 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141028551-141056695 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141049016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 624 (E624G)

Ref Sequence

ENSEMBL: ENSMUSP00000006614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006614]

AlphaFold

Q03145

Predicted Effect

probably damaging
Transcript: ENSMUST00000006614
AA Change: E624G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000006614
Gene: ENSMUSG00000006445
AA Change: E624G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
EPH_lbd	27	200	1.31e-112	SMART
FN3	330	420	1.16e-6	SMART
FN3	437	517	3.73e-10	SMART
Pfam:EphA2_TM	538	611	5.9e-22	PFAM
TyrKc	614	872	2.23e-135	SMART
SAM	902	969	1.5e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149002

Meta Mutation Damage Score

0.4770

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.2%

Validation Efficiency

97% (94/97)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Mutations in this gene are the cause of certain genetically-related cataract disorders.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal angiogenesis. Mice homozygous for a gene trap allele exhibit increased incidence of chemically-induced tumors, increased metastatic potential, and age-related cataracts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730061H03Rik	C	T	14: 55,797,574 (GRCm39)		probably benign	Het
Acsf2	A	C	11: 94,460,155 (GRCm39)	M399R	possibly damaging	Het
Adra2c	C	A	5: 35,438,268 (GRCm39)	R347S	probably benign	Het
Akap9	A	G	5: 4,011,466 (GRCm39)	K723R	possibly damaging	Het
Anxa9	A	C	3: 95,215,324 (GRCm39)		probably benign	Het
Aqr	T	C	2: 113,943,832 (GRCm39)	H1102R	probably damaging	Het
Armh3	A	T	19: 45,808,726 (GRCm39)	F655Y	probably damaging	Het
Arrdc2	A	G	8: 71,290,162 (GRCm39)	V173A	probably benign	Het
Aspm	T	C	1: 139,405,748 (GRCm39)	V1545A	probably benign	Het
Bbs5	C	T	2: 69,477,578 (GRCm39)		probably benign	Het
Bnip2	A	G	9: 69,910,716 (GRCm39)	T255A	possibly damaging	Het
Cacna1b	T	C	2: 24,538,535 (GRCm39)	T1531A	probably damaging	Het
Cast	T	C	13: 74,955,942 (GRCm39)	K9R	probably benign	Het
Cfap46	A	T	7: 139,187,104 (GRCm39)		probably null	Het
Cfap57	G	T	4: 118,450,251 (GRCm39)	L624M	probably damaging	Het
Cyp2c39	A	T	19: 39,552,323 (GRCm39)	M339L	probably benign	Het
Dcst1	T	A	3: 89,265,110 (GRCm39)	T247S	probably benign	Het
Dnajc18	T	A	18: 35,816,372 (GRCm39)	I189F	possibly damaging	Het
Eef2kmt	T	C	16: 5,066,876 (GRCm39)	T126A	probably benign	Het
Erbb3	G	A	10: 128,408,317 (GRCm39)	H866Y	probably benign	Het
F13a1	C	T	13: 37,100,837 (GRCm39)		probably null	Het
Fgd3	T	A	13: 49,432,078 (GRCm39)	N392I	probably damaging	Het
Fgf7	A	T	2: 125,930,160 (GRCm39)	M98L	probably benign	Het
G2e3	T	A	12: 51,415,922 (GRCm39)	S553T	probably benign	Het
Glipr1	C	A	10: 111,829,411 (GRCm39)	E117*	probably null	Het
Gm11060	A	T	2: 104,924,128 (GRCm39)		probably benign	Het
Gm4787	A	G	12: 81,424,403 (GRCm39)	I585T	probably damaging	Het
Gm6055	A	T	14: 48,316,915 (GRCm39)		noncoding transcript	Het
Gpbar1	TACCAC	TAC	1: 74,318,704 (GRCm39)		probably benign	Het
Gpt2	T	A	8: 86,246,068 (GRCm39)		probably benign	Het
Gtf2ird1	A	T	5: 134,386,685 (GRCm39)	Y345*	probably null	Het
Hmcn1	T	A	1: 150,695,200 (GRCm39)	T235S	probably benign	Het
Igkv5-48	A	G	6: 69,703,738 (GRCm39)	Y56H	possibly damaging	Het
Il17re	C	T	6: 113,446,530 (GRCm39)	T427I	probably benign	Het
Itpr3	A	T	17: 27,302,582 (GRCm39)	D80V	probably damaging	Het
Kif21a	G	T	15: 90,833,213 (GRCm39)	H1317N	probably benign	Het
Kif28	T	C	1: 179,526,209 (GRCm39)	K144E	probably damaging	Het
Kif4-ps	A	C	12: 101,113,330 (GRCm39)		noncoding transcript	Het
Klk1b11	C	T	7: 43,427,160 (GRCm39)	T148I	probably damaging	Het
Klkb1	T	A	8: 45,739,995 (GRCm39)	H99L	probably damaging	Het
Kpna6	A	C	4: 129,550,198 (GRCm39)		probably null	Het
Lama3	G	T	18: 12,685,883 (GRCm39)	K1132N	probably damaging	Het
Lcp1	T	A	14: 75,445,911 (GRCm39)	L264*	probably null	Het
Map2	T	C	1: 66,452,664 (GRCm39)	V360A	probably benign	Het
Med13	A	T	11: 86,189,673 (GRCm39)	S1079T	probably damaging	Het
Mettl13	A	G	1: 162,364,789 (GRCm39)	M162T	probably damaging	Het
Mppe1	T	G	18: 67,361,133 (GRCm39)	E208A	probably benign	Het
Msantd2	A	C	9: 37,400,675 (GRCm39)	K19T	possibly damaging	Het
Mylk3	A	G	8: 86,091,412 (GRCm39)	V131A	probably damaging	Het
Myocd	A	T	11: 65,074,299 (GRCm39)	S609T	possibly damaging	Het
Ncbp3	G	A	11: 72,944,355 (GRCm39)		probably null	Het
Neb	T	A	2: 52,136,871 (GRCm39)	L3203F	probably damaging	Het
Notch2	C	A	3: 98,046,949 (GRCm39)	T1756K	probably benign	Het
Nphp4	A	T	4: 152,622,250 (GRCm39)	R544W	probably damaging	Het
Or3a1c	A	T	11: 74,046,745 (GRCm39)	Y255F	probably benign	Het
Or4p18	T	G	2: 88,232,756 (GRCm39)	H174P	probably damaging	Het
Or5c1	A	T	2: 37,222,578 (GRCm39)	D273V	probably damaging	Het
Parp4	T	A	14: 56,827,355 (GRCm39)	V163E	possibly damaging	Het
Pcdhgb1	C	A	18: 37,815,425 (GRCm39)	Q639K	probably benign	Het
Pcnx2	A	G	8: 126,577,869 (GRCm39)	V936A	probably benign	Het
Pcsk7	T	A	9: 45,830,160 (GRCm39)	M418K	probably damaging	Het
Pglyrp4	T	C	3: 90,640,314 (GRCm39)	I188T	probably benign	Het
Pgs1	A	G	11: 117,896,345 (GRCm39)	R339G	probably benign	Het
Pik3r3	A	G	4: 116,143,388 (GRCm39)	I294V	probably benign	Het
Pik3r6	A	G	11: 68,430,771 (GRCm39)	D520G	probably damaging	Het
Pkdrej	A	G	15: 85,704,610 (GRCm39)	V442A	probably benign	Het
Ppfibp1	T	A	6: 146,931,917 (GRCm39)		probably benign	Het
Ppp3ca	C	A	3: 136,640,810 (GRCm39)	Q454K	possibly damaging	Het
Ppp5c	A	T	7: 16,743,861 (GRCm39)	M191K	probably damaging	Het
Prl4a1	A	T	13: 28,207,308 (GRCm39)	Y194F	possibly damaging	Het
Ptpn21	G	T	12: 98,646,362 (GRCm39)	T1032K	probably damaging	Het
Ptprh	A	T	7: 4,554,006 (GRCm39)		probably null	Het
Ptprm	T	A	17: 66,985,062 (GRCm39)	R1447S	probably benign	Het
Pxk	T	A	14: 8,140,734 (GRCm38)	D236E	probably damaging	Het
Qars1	T	C	9: 108,386,130 (GRCm39)	F107S	probably damaging	Het
Rbbp6	A	G	7: 122,599,031 (GRCm39)		probably benign	Het
Rptor	A	T	11: 119,712,466 (GRCm39)		probably benign	Het
Rtn4	T	A	11: 29,690,994 (GRCm39)	M1095K	probably damaging	Het
Serpinb3b	T	A	1: 107,082,445 (GRCm39)	H273L	probably benign	Het
Sgce	G	A	6: 4,689,630 (GRCm39)	T401M	probably benign	Het
Slc12a6	C	T	2: 112,188,870 (GRCm39)	R1083W	probably damaging	Het
Slc45a4	A	T	15: 73,456,299 (GRCm39)	M635K	probably damaging	Het
Slc6a1	T	A	6: 114,284,662 (GRCm39)	V240D	probably damaging	Het
Snx9	G	A	17: 5,952,794 (GRCm39)		probably null	Het
Spred3	A	G	7: 28,867,249 (GRCm39)	V49A	probably damaging	Het
Tars1	A	G	15: 11,390,477 (GRCm39)	F334S	probably damaging	Het
Tdpoz1	A	G	3: 93,578,454 (GRCm39)	V110A	probably benign	Het
Tfrc	T	G	16: 32,437,097 (GRCm39)	V252G	probably damaging	Het
Tm6sf2	T	C	8: 70,528,128 (GRCm39)		probably benign	Het
Txlnb	T	C	10: 17,714,717 (GRCm39)	V383A	probably damaging	Het
Utp20	C	A	10: 88,652,811 (GRCm39)	V368L	probably benign	Het
Vmn2r12	A	T	5: 109,239,372 (GRCm39)	V397E	probably damaging	Het
Zdhhc12	G	A	2: 29,981,538 (GRCm39)	R175W	probably damaging	Het
Zfyve9	A	G	4: 108,538,097 (GRCm39)		probably null	Het

Other mutations in Epha2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02148:Epha2	APN	4	141,045,835 (GRCm39)	missense	probably damaging	1.00
IGL02812:Epha2	APN	4	141,046,230 (GRCm39)	splice site	probably benign
IGL03377:Epha2	APN	4	141,049,723 (GRCm39)	missense	probably benign	0.08
R0165:Epha2	UTSW	4	141,049,203 (GRCm39)	critical splice donor site	probably null
R0321:Epha2	UTSW	4	141,035,716 (GRCm39)	missense	probably damaging	1.00
R1584:Epha2	UTSW	4	141,049,358 (GRCm39)	splice site	probably null
R1586:Epha2	UTSW	4	141,045,916 (GRCm39)	splice site	probably benign
R1695:Epha2	UTSW	4	141,033,828 (GRCm39)	missense	possibly damaging	0.74
R1721:Epha2	UTSW	4	141,049,963 (GRCm39)	missense	probably damaging	1.00
R1731:Epha2	UTSW	4	141,049,063 (GRCm39)	missense	possibly damaging	0.81
R1813:Epha2	UTSW	4	141,035,857 (GRCm39)	missense	possibly damaging	0.86
R1875:Epha2	UTSW	4	141,036,290 (GRCm39)	missense	probably benign	0.02
R2226:Epha2	UTSW	4	141,048,548 (GRCm39)	missense	probably damaging	1.00
R2314:Epha2	UTSW	4	141,046,325 (GRCm39)	missense	probably damaging	1.00
R2342:Epha2	UTSW	4	141,050,842 (GRCm39)	missense	probably benign	0.00
R3872:Epha2	UTSW	4	141,035,716 (GRCm39)	missense	probably damaging	1.00
R3927:Epha2	UTSW	4	141,033,861 (GRCm39)	missense	probably damaging	1.00
R4688:Epha2	UTSW	4	141,046,292 (GRCm39)	missense	probably benign
R4795:Epha2	UTSW	4	141,049,727 (GRCm39)	splice site	probably null
R5055:Epha2	UTSW	4	141,036,380 (GRCm39)	missense	probably benign	0.09
R5123:Epha2	UTSW	4	141,036,176 (GRCm39)	missense	possibly damaging	0.71
R5424:Epha2	UTSW	4	141,046,251 (GRCm39)	nonsense	probably null
R5522:Epha2	UTSW	4	141,035,867 (GRCm39)	missense	probably damaging	1.00
R5657:Epha2	UTSW	4	141,050,805 (GRCm39)	missense	probably damaging	1.00
R5717:Epha2	UTSW	4	141,049,382 (GRCm39)	missense	probably benign
R5864:Epha2	UTSW	4	141,035,738 (GRCm39)	missense	probably damaging	0.98
R6151:Epha2	UTSW	4	141,045,791 (GRCm39)	critical splice acceptor site	probably null
R6244:Epha2	UTSW	4	141,044,223 (GRCm39)	missense	probably benign	0.00
R6288:Epha2	UTSW	4	141,044,344 (GRCm39)	missense	probably benign	0.01
R6696:Epha2	UTSW	4	141,048,850 (GRCm39)	missense	probably benign
R6817:Epha2	UTSW	4	141,036,305 (GRCm39)	missense	probably damaging	0.98
R6875:Epha2	UTSW	4	141,055,779 (GRCm39)	missense	probably damaging	1.00
R6910:Epha2	UTSW	4	141,048,824 (GRCm39)	missense	probably damaging	1.00
R6925:Epha2	UTSW	4	141,036,068 (GRCm39)	missense	probably benign
R7330:Epha2	UTSW	4	141,035,764 (GRCm39)	missense	probably benign	0.00
R7977:Epha2	UTSW	4	141,035,791 (GRCm39)	missense	probably damaging	1.00
R7987:Epha2	UTSW	4	141,035,791 (GRCm39)	missense	probably damaging	1.00
R8081:Epha2	UTSW	4	141,049,605 (GRCm39)	missense	probably damaging	1.00
R9095:Epha2	UTSW	4	141,044,012 (GRCm39)	missense	possibly damaging	0.95
R9696:Epha2	UTSW	4	141,047,834 (GRCm39)	missense	probably benign	0.00
R9737:Epha2	UTSW	4	141,045,814 (GRCm39)	missense	probably benign	0.10
RF024:Epha2	UTSW	4	141,050,717 (GRCm39)	critical splice acceptor site	unknown
Z1177:Epha2	UTSW	4	141,046,309 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGCCCCTGAAGACCTATGTGG -3'
(R):5'- TCCAGGCGGATGATATTGTG -3'

Sequencing Primer
(F):5'- TGTGGATCCTCACACTTACGAAG -3'
(R):5'- CGGATGATATTGTGGTGGCTAAAC -3'

Posted On

2016-04-27