Mutagenetix > Incidental Mutation

Incidental Mutation 'R1695:Epha2'

192113

Institutional Source

Beutler Lab

Gene Symbol

Epha2

Ensembl Gene

ENSMUSG00000006445

Gene Name

Eph receptor A2

Synonyms

Myk2, Eck, Sek-2, Sek2

MMRRC Submission

039728-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.698) question?

Stock #

R1695 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141301240-141329384 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141306517 bp (GRCm38)

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
2610301B20Rik	T	A	4: 10,874,644 (GRCm38)	D10E	probably damaging	Het
Adam1b	T	A	5: 121,500,907 (GRCm38)	T692S	probably benign	Het
Adgrf3	T	A	5: 30,203,555 (GRCm38)	N75I	probably benign	Het
Adgrg5	A	G	8: 94,937,745 (GRCm38)	M328V	probably damaging	Het
Adk	A	G	14: 21,381,600 (GRCm38)	D286G	probably benign	Het
Ankrd28	T	A	14: 31,707,244 (GRCm38)	D917V	probably damaging	Het
Appl2	C	T	10: 83,621,582 (GRCm38)	D141N	probably damaging	Het
Arfgef2	T	C	2: 166,864,712 (GRCm38)	V952A	probably damaging	Het
Arpc2	T	A	1: 74,248,232 (GRCm38)	H70Q	probably damaging	Het
Bpifa5	T	C	2: 154,167,660 (GRCm38)	L261P	probably damaging	Het
Brca1	G	T	11: 101,524,455 (GRCm38)	T951K	probably damaging	Het
Ccdc189	A	G	7: 127,587,573 (GRCm38)		probably null	Het
Ccdc73	A	T	2: 104,992,105 (GRCm38)	S800C	probably damaging	Het
Cdh15	C	G	8: 122,862,016 (GRCm38)	D276E	probably benign	Het
Cfh	T	C	1: 140,102,837 (GRCm38)	I551V	probably damaging	Het
Chd7	T	A	4: 8,833,960 (GRCm38)	L1238Q	probably damaging	Het
Chd9	T	G	8: 91,001,782 (GRCm38)	F1275L	probably damaging	Het
Chrnb3	A	G	8: 27,393,700 (GRCm38)	Y155C	probably damaging	Het
Cltc	C	A	11: 86,701,060 (GRCm38)		probably null	Het
Ctsll3	T	A	13: 60,800,977 (GRCm38)	N55Y	probably damaging	Het
Cysltr2	T	C	14: 73,029,881 (GRCm38)	M130V	probably benign	Het
Daglb	T	C	5: 143,494,606 (GRCm38)	M455T	probably benign	Het
Dbn1	A	G	13: 55,476,708 (GRCm38)	S343P	probably benign	Het
Dnah2	T	A	11: 69,514,691 (GRCm38)	D665V	possibly damaging	Het
Dusp6	T	A	10: 99,263,693 (GRCm38)	M1K	probably null	Het
Eif3m	T	C	2: 105,016,953 (GRCm38)	E12G	probably damaging	Het
Fam160b1	T	C	19: 57,379,171 (GRCm38)	W337R	probably damaging	Het
Farp2	T	A	1: 93,560,325 (GRCm38)	N91K	probably damaging	Het
Ferd3l	C	A	12: 33,928,972 (GRCm38)	S161R	probably benign	Het
Fgd2	A	T	17: 29,368,245 (GRCm38)	D315V	possibly damaging	Het
Fstl4	T	A	11: 53,165,878 (GRCm38)		probably null	Het
Grm5	A	G	7: 88,036,103 (GRCm38)	D476G	possibly damaging	Het
Gtf3c3	C	T	1: 54,417,778 (GRCm38)	A488T	probably damaging	Het
Hdlbp	A	G	1: 93,437,200 (GRCm38)	L115P	probably damaging	Het
Hk2	T	A	6: 82,744,951 (GRCm38)	N136Y	probably damaging	Het
Hs2st1	G	T	3: 144,434,654 (GRCm38)	A302E	probably benign	Het
Htr7	T	C	19: 35,969,736 (GRCm38)	N293D	probably benign	Het
Ikbkb	T	A	8: 22,673,480 (GRCm38)	E271D	probably benign	Het
Il5ra	A	T	6: 106,738,374 (GRCm38)	Y166*	probably null	Het
Il9r	T	A	11: 32,193,227 (GRCm38)	H244L	probably benign	Het
Itih4	T	C	14: 30,891,499 (GRCm38)		probably null	Het
Kirrel	C	T	3: 87,089,151 (GRCm38)	M380I	probably null	Het
Large1	A	T	8: 72,818,082 (GRCm38)	D689E	probably damaging	Het
Limk2	A	G	11: 3,353,275 (GRCm38)		probably null	Het
Med15	A	G	16: 17,722,780 (GRCm38)	F34S	probably damaging	Het
Mprip	C	T	11: 59,752,531 (GRCm38)	T505I	probably damaging	Het
Mtor	T	A	4: 148,538,907 (GRCm38)	N2071K	probably benign	Het
Muc16	A	G	9: 18,497,433 (GRCm38)	L2522P	probably damaging	Het
Myd88	A	T	9: 119,337,842 (GRCm38)		probably null	Het
Myo7a	A	C	7: 98,092,496 (GRCm38)	F484V	possibly damaging	Het
Nme1	A	C	11: 93,960,767 (GRCm38)	L81R	probably benign	Het
Ntn4	T	A	10: 93,733,602 (GRCm38)		probably null	Het
Olfr1180	T	C	2: 88,412,100 (GRCm38)	D186G	probably damaging	Het
Olfr1383	T	C	11: 49,524,335 (GRCm38)	V204A	probably benign	Het
Olfr630	A	T	7: 103,754,924 (GRCm38)	Y220*	probably null	Het
Otogl	T	G	10: 107,814,017 (GRCm38)	N1159T	probably damaging	Het
Pabpc6	G	A	17: 9,668,074 (GRCm38)	T516I	probably benign	Het
Pcdh1	C	T	18: 38,202,868 (GRCm38)	R238H	probably damaging	Het
Pex5l	T	A	3: 32,954,382 (GRCm38)	N151I	probably benign	Het
Plekha7	T	C	7: 116,128,685 (GRCm38)	N980S	probably damaging	Het
Reg4	C	T	3: 98,236,361 (GRCm38)	T157I	probably benign	Het
Rev3l	A	T	10: 39,824,616 (GRCm38)	E1703V	probably damaging	Het
Rev3l	G	T	10: 39,824,615 (GRCm38)	E1703*	probably null	Het
Rsf1	GCG	GCGACG	7: 97,579,907 (GRCm38)		probably benign	Het
Saal1	T	C	7: 46,692,916 (GRCm38)	K368E	probably damaging	Het
Scn9a	C	T	2: 66,504,876 (GRCm38)	W1245*	probably null	Het
Slc38a11	T	A	2: 65,316,971 (GRCm38)	L387F	probably damaging	Het
Sned1	G	A	1: 93,281,654 (GRCm38)	V830M	possibly damaging	Het
Sptb	C	A	12: 76,620,867 (GRCm38)	V819L	probably benign	Het
Sptbn1	T	C	11: 30,136,124 (GRCm38)	T1195A	probably benign	Het
Ssna1	C	A	2: 25,272,012 (GRCm38)	V57F	possibly damaging	Het
Stk32a	G	T	18: 43,313,420 (GRCm38)	E312*	probably null	Het
Synpo	A	G	18: 60,603,387 (GRCm38)	F496L	probably benign	Het
Syt15	C	T	14: 34,222,901 (GRCm38)	T135M	probably benign	Het
Tm9sf4	A	G	2: 153,190,912 (GRCm38)	E246G	probably benign	Het
Trim44	T	C	2: 102,357,485 (GRCm38)	M308V	possibly damaging	Het
Unc119b	T	A	5: 115,134,826 (GRCm38)	K29*	probably null	Het
Vim	T	A	2: 13,580,110 (GRCm38)	D367E	probably benign	Het
Virma	T	A	4: 11,494,814 (GRCm38)	N38K	probably damaging	Het
Vmn1r228	A	T	17: 20,776,298 (GRCm38)	D319E	possibly damaging	Het
Vmn2r32	T	A	7: 7,463,992 (GRCm38)	I846F	probably benign	Het
Vps13b	T	C	15: 35,576,521 (GRCm38)	V1025A	probably benign	Het
Vps13c	G	T	9: 67,972,075 (GRCm38)	E566*	probably null	Het

Other mutations in Epha2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02148:Epha2	APN	4	141,318,524 (GRCm38)	missense	probably damaging	1.00
IGL02812:Epha2	APN	4	141,318,919 (GRCm38)	splice site	probably benign
IGL03377:Epha2	APN	4	141,322,412 (GRCm38)	missense	probably benign	0.08
R0165:Epha2	UTSW	4	141,321,892 (GRCm38)	critical splice donor site	probably null
R0321:Epha2	UTSW	4	141,308,405 (GRCm38)	missense	probably damaging	1.00
R1584:Epha2	UTSW	4	141,322,047 (GRCm38)	splice site	probably null
R1586:Epha2	UTSW	4	141,318,605 (GRCm38)	splice site	probably benign
R1721:Epha2	UTSW	4	141,322,652 (GRCm38)	missense	probably damaging	1.00
R1731:Epha2	UTSW	4	141,321,752 (GRCm38)	missense	possibly damaging	0.81
R1813:Epha2	UTSW	4	141,308,546 (GRCm38)	missense	possibly damaging	0.86
R1875:Epha2	UTSW	4	141,308,979 (GRCm38)	missense	probably benign	0.02
R2226:Epha2	UTSW	4	141,321,237 (GRCm38)	missense	probably damaging	1.00
R2314:Epha2	UTSW	4	141,319,014 (GRCm38)	missense	probably damaging	1.00
R2342:Epha2	UTSW	4	141,323,531 (GRCm38)	missense	probably benign	0.00
R3872:Epha2	UTSW	4	141,308,405 (GRCm38)	missense	probably damaging	1.00
R3927:Epha2	UTSW	4	141,306,550 (GRCm38)	missense	probably damaging	1.00
R4688:Epha2	UTSW	4	141,318,981 (GRCm38)	missense	probably benign
R4795:Epha2	UTSW	4	141,322,416 (GRCm38)	splice site	probably null
R4974:Epha2	UTSW	4	141,321,705 (GRCm38)	missense	probably damaging	0.99
R5055:Epha2	UTSW	4	141,309,069 (GRCm38)	missense	probably benign	0.09
R5123:Epha2	UTSW	4	141,308,865 (GRCm38)	missense	possibly damaging	0.71
R5424:Epha2	UTSW	4	141,318,940 (GRCm38)	nonsense	probably null
R5522:Epha2	UTSW	4	141,308,556 (GRCm38)	missense	probably damaging	1.00
R5657:Epha2	UTSW	4	141,323,494 (GRCm38)	missense	probably damaging	1.00
R5717:Epha2	UTSW	4	141,322,071 (GRCm38)	missense	probably benign
R5864:Epha2	UTSW	4	141,308,427 (GRCm38)	missense	probably damaging	0.98
R6151:Epha2	UTSW	4	141,318,480 (GRCm38)	critical splice acceptor site	probably null
R6244:Epha2	UTSW	4	141,316,912 (GRCm38)	missense	probably benign	0.00
R6288:Epha2	UTSW	4	141,317,033 (GRCm38)	missense	probably benign	0.01
R6696:Epha2	UTSW	4	141,321,539 (GRCm38)	missense	probably benign
R6817:Epha2	UTSW	4	141,308,994 (GRCm38)	missense	probably damaging	0.98
R6875:Epha2	UTSW	4	141,328,468 (GRCm38)	missense	probably damaging	1.00
R6910:Epha2	UTSW	4	141,321,513 (GRCm38)	missense	probably damaging	1.00
R6925:Epha2	UTSW	4	141,308,757 (GRCm38)	missense	probably benign
R7330:Epha2	UTSW	4	141,308,453 (GRCm38)	missense	probably benign	0.00
R7977:Epha2	UTSW	4	141,308,480 (GRCm38)	missense	probably damaging	1.00
R7987:Epha2	UTSW	4	141,308,480 (GRCm38)	missense	probably damaging	1.00
R8081:Epha2	UTSW	4	141,322,294 (GRCm38)	missense	probably damaging	1.00
R9095:Epha2	UTSW	4	141,316,701 (GRCm38)	missense	possibly damaging	0.95
R9696:Epha2	UTSW	4	141,320,523 (GRCm38)	missense	probably benign	0.00
R9737:Epha2	UTSW	4	141,318,503 (GRCm38)	missense	probably benign	0.10
RF024:Epha2	UTSW	4	141,323,406 (GRCm38)	critical splice acceptor site	unknown
Z1177:Epha2	UTSW	4	141,318,998 (GRCm38)	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