Mutagenetix > Incidental Mutation

Incidental Mutation 'R1695:Epha2'

192113

Institutional Source

Beutler Lab

Gene Symbol

Epha2

Ensembl Gene

ENSMUSG00000006445

Gene Name

Eph receptor A2

Synonyms

Sek2, Eck, Myk2, Sek-2

MMRRC Submission

039728-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.692) question?

Stock #

R1695 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141028551-141056695 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141033828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 29 (V29A)

Ref Sequence

ENSEMBL: ENSMUSP00000006614 (fasta)

Gene Model

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

AlphaFold

Q03145

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006614
AA Change: V29A

PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000006614
Gene: ENSMUSG00000006445
AA Change: V29A

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: ENSMUST00000131026

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145523

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	T	A	5: 121,638,970 (GRCm39)	T692S	probably benign	Het
Adgrf3	T	A	5: 30,408,553 (GRCm39)	N75I	probably benign	Het
Adgrg5	A	G	8: 95,664,373 (GRCm39)	M328V	probably damaging	Het
Adk	A	G	14: 21,431,668 (GRCm39)	D286G	probably benign	Het
Ankrd28	T	A	14: 31,429,201 (GRCm39)	D917V	probably damaging	Het
Appl2	C	T	10: 83,457,446 (GRCm39)	D141N	probably damaging	Het
Arfgef2	T	C	2: 166,706,632 (GRCm39)	V952A	probably damaging	Het
Arpc2	T	A	1: 74,287,391 (GRCm39)	H70Q	probably damaging	Het
Bpifa5	T	C	2: 154,009,580 (GRCm39)	L261P	probably damaging	Het
Brca1	G	T	11: 101,415,281 (GRCm39)	T951K	probably damaging	Het
Ccdc73	A	T	2: 104,822,450 (GRCm39)	S800C	probably damaging	Het
Cdh15	C	G	8: 123,588,755 (GRCm39)	D276E	probably benign	Het
Cfap119	A	G	7: 127,186,745 (GRCm39)		probably null	Het
Cfap418	T	A	4: 10,874,644 (GRCm39)	D10E	probably damaging	Het
Cfh	T	C	1: 140,030,575 (GRCm39)	I551V	probably damaging	Het
Chd7	T	A	4: 8,833,960 (GRCm39)	L1238Q	probably damaging	Het
Chd9	T	G	8: 91,728,410 (GRCm39)	F1275L	probably damaging	Het
Chrnb3	A	G	8: 27,883,728 (GRCm39)	Y155C	probably damaging	Het
Cltc	C	A	11: 86,591,886 (GRCm39)		probably null	Het
Ctsll3	T	A	13: 60,948,791 (GRCm39)	N55Y	probably damaging	Het
Cysltr2	T	C	14: 73,267,321 (GRCm39)	M130V	probably benign	Het
Daglb	T	C	5: 143,480,361 (GRCm39)	M455T	probably benign	Het
Dbn1	A	G	13: 55,624,521 (GRCm39)	S343P	probably benign	Het
Dnah2	T	A	11: 69,405,517 (GRCm39)	D665V	possibly damaging	Het
Dusp6	T	A	10: 99,099,555 (GRCm39)	M1K	probably null	Het
Eif3m	T	C	2: 104,847,298 (GRCm39)	E12G	probably damaging	Het
Farp2	T	A	1: 93,488,047 (GRCm39)	N91K	probably damaging	Het
Ferd3l	C	A	12: 33,978,971 (GRCm39)	S161R	probably benign	Het
Fgd2	A	T	17: 29,587,219 (GRCm39)	D315V	possibly damaging	Het
Fhip2a	T	C	19: 57,367,603 (GRCm39)	W337R	probably damaging	Het
Fstl4	T	A	11: 53,056,705 (GRCm39)		probably null	Het
Grm5	A	G	7: 87,685,311 (GRCm39)	D476G	possibly damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hdlbp	A	G	1: 93,364,922 (GRCm39)	L115P	probably damaging	Het
Hk2	T	A	6: 82,721,932 (GRCm39)	N136Y	probably damaging	Het
Hs2st1	G	T	3: 144,140,415 (GRCm39)	A302E	probably benign	Het
Htr7	T	C	19: 35,947,136 (GRCm39)	N293D	probably benign	Het
Ikbkb	T	A	8: 23,163,496 (GRCm39)	E271D	probably benign	Het
Il5ra	A	T	6: 106,715,335 (GRCm39)	Y166*	probably null	Het
Il9r	T	A	11: 32,143,227 (GRCm39)	H244L	probably benign	Het
Itih4	T	C	14: 30,613,456 (GRCm39)		probably null	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Large1	A	T	8: 73,544,710 (GRCm39)	D689E	probably damaging	Het
Limk2	A	G	11: 3,303,275 (GRCm39)		probably null	Het
Med15	A	G	16: 17,540,644 (GRCm39)	F34S	probably damaging	Het
Mprip	C	T	11: 59,643,357 (GRCm39)	T505I	probably damaging	Het
Mtor	T	A	4: 148,623,364 (GRCm39)	N2071K	probably benign	Het
Muc16	A	G	9: 18,408,729 (GRCm39)	L2522P	probably damaging	Het
Myd88	A	T	9: 119,166,908 (GRCm39)		probably null	Het
Myo7a	A	C	7: 97,741,703 (GRCm39)	F484V	possibly damaging	Het
Nme1	A	C	11: 93,851,593 (GRCm39)	L81R	probably benign	Het
Ntn4	T	A	10: 93,569,464 (GRCm39)		probably null	Het
Or2y13	T	C	11: 49,415,162 (GRCm39)	V204A	probably benign	Het
Or4p19	T	C	2: 88,242,444 (GRCm39)	D186G	probably damaging	Het
Or51l4	A	T	7: 103,404,131 (GRCm39)	Y220*	probably null	Het
Otogl	T	G	10: 107,649,878 (GRCm39)	N1159T	probably damaging	Het
Pabpc6	G	A	17: 9,887,003 (GRCm39)	T516I	probably benign	Het
Pcdh1	C	T	18: 38,335,921 (GRCm39)	R238H	probably damaging	Het
Pex5l	T	A	3: 33,008,531 (GRCm39)	N151I	probably benign	Het
Plekha7	T	C	7: 115,727,920 (GRCm39)	N980S	probably damaging	Het
Reg4	C	T	3: 98,143,677 (GRCm39)	T157I	probably benign	Het
Rev3l	A	T	10: 39,700,612 (GRCm39)	E1703V	probably damaging	Het
Rev3l	G	T	10: 39,700,611 (GRCm39)	E1703*	probably null	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Saal1	T	C	7: 46,342,340 (GRCm39)	K368E	probably damaging	Het
Scn9a	C	T	2: 66,335,220 (GRCm39)	W1245*	probably null	Het
Slc38a11	T	A	2: 65,147,315 (GRCm39)	L387F	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Sptb	C	A	12: 76,667,641 (GRCm39)	V819L	probably benign	Het
Sptbn1	T	C	11: 30,086,124 (GRCm39)	T1195A	probably benign	Het
Ssna1	C	A	2: 25,162,024 (GRCm39)	V57F	possibly damaging	Het
Stk32a	G	T	18: 43,446,485 (GRCm39)	E312*	probably null	Het
Synpo	A	G	18: 60,736,459 (GRCm39)	F496L	probably benign	Het
Syt15	C	T	14: 33,944,858 (GRCm39)	T135M	probably benign	Het
Tm9sf4	A	G	2: 153,032,832 (GRCm39)	E246G	probably benign	Het
Trim44	T	C	2: 102,187,830 (GRCm39)	M308V	possibly damaging	Het
Unc119b	T	A	5: 115,272,885 (GRCm39)	K29*	probably null	Het
Vim	T	A	2: 13,584,921 (GRCm39)	D367E	probably benign	Het
Virma	T	A	4: 11,494,814 (GRCm39)	N38K	probably damaging	Het
Vmn1r228	A	T	17: 20,996,560 (GRCm39)	D319E	possibly damaging	Het
Vmn2r32	T	A	7: 7,466,991 (GRCm39)	I846F	probably benign	Het
Vps13b	T	C	15: 35,576,667 (GRCm39)	V1025A	probably benign	Het
Vps13c	G	T	9: 67,879,357 (GRCm39)	E566*	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
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
R4974:Epha2	UTSW	4	141,049,016 (GRCm39)	missense	probably damaging	0.99
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'- CCTGCATGAAGTGTTTGTTCCCTTG -3'
(R):5'- GTCACCACGTTTGAAGCTTGGTTG -3'

Sequencing Primer
(F):5'- TGTGTGACAAACTGAGCCC -3'
(R):5'- CCCTCAGCCCTGAAGTTTTA -3'

Posted On

2014-05-14