Mutagenetix > Incidental Mutation

Incidental Mutation 'R6244:Epha2'

505437

Institutional Source

Beutler Lab

Gene Symbol

Epha2

Ensembl Gene

ENSMUSG00000006445

Gene Name

Eph receptor A2

Synonyms

Sek2, Eck, Myk2, Sek-2

MMRRC Submission

044435-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.692) question?

Stock #

R6244 (G1)

Quality Score

147.008

Status

Not validated

Chromosome

Chromosomal Location

141028551-141056695 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 141044223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 342 (G342S)

Ref Sequence

ENSEMBL: ENSMUSP00000006614 (fasta)

Gene Model

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

AlphaFold

Q03145

Predicted Effect

probably benign
Transcript: ENSMUST00000006614
AA Change: G342S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000006614
Gene: ENSMUSG00000006445
AA Change: G342S

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

96% (82/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	T	C	2: 155,845,150 (GRCm39)	H113R	possibly damaging	Het
Adgrf3	A	T	5: 30,402,531 (GRCm39)	M499K	probably benign	Het
Adgrv1	G	A	13: 81,255,050 (GRCm39)	T211I	probably damaging	Het
Adss2	C	T	1: 177,604,395 (GRCm39)	E153K	probably benign	Het
Ago4	C	A	4: 126,405,280 (GRCm39)	G431V	possibly damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Atp2b4	T	A	1: 133,654,299 (GRCm39)	I769F	probably damaging	Het
Atp9a	T	C	2: 168,531,272 (GRCm39)		probably null	Het
Bltp1	T	C	3: 37,011,148 (GRCm39)	V1782A	probably benign	Het
Brap	C	A	5: 121,803,372 (GRCm39)	D173E	probably benign	Het
Brca2	G	T	5: 150,490,443 (GRCm39)	R3035L	probably benign	Het
Ccdc8	C	A	7: 16,730,176 (GRCm39)	P555Q	probably benign	Het
Ccser2	A	G	14: 36,662,675 (GRCm39)	S170P	probably benign	Het
Celsr2	T	C	3: 108,300,444 (GRCm39)	H860R	probably damaging	Het
Cenpc1	C	A	5: 86,194,244 (GRCm39)	R174M	probably damaging	Het
Cfap57	T	G	4: 118,436,607 (GRCm39)	I930L	probably damaging	Het
Cx3cr1	C	T	9: 119,880,760 (GRCm39)	R214H	probably damaging	Het
Cyp4f14	T	A	17: 33,125,291 (GRCm39)	H429L	probably benign	Het
D5Ertd579e	A	G	5: 36,772,620 (GRCm39)	F592L	probably damaging	Het
Ddb1	A	G	19: 10,603,287 (GRCm39)	E865G	probably damaging	Het
Ddx50	A	T	10: 62,457,345 (GRCm39)		probably null	Het
Dpp6	A	G	5: 27,254,626 (GRCm39)	T14A	probably damaging	Het
Echs1	C	A	7: 139,692,982 (GRCm39)	Q51H	possibly damaging	Het
Ecm2	A	T	13: 49,683,783 (GRCm39)	D587V	probably damaging	Het
Ect2l	A	T	10: 18,016,145 (GRCm39)	Y666N	possibly damaging	Het
Fbxo33	C	A	12: 59,252,865 (GRCm39)	K211N	probably benign	Het
Fchsd2	A	G	7: 100,908,983 (GRCm39)		probably null	Het
Fen1	A	G	19: 10,178,051 (GRCm39)	V131A	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Flnb	A	G	14: 7,892,092 (GRCm38)	E587G	probably damaging	Het
Foxd3	A	G	4: 99,545,477 (GRCm39)	T206A	possibly damaging	Het
Fut1	A	G	7: 45,268,730 (GRCm39)	E228G	possibly damaging	Het
Galnt13	T	C	2: 54,823,560 (GRCm39)	F379L	probably damaging	Het
Gcnt2	A	C	13: 41,014,717 (GRCm39)	E296A	probably damaging	Het
Gm7145	T	A	1: 117,913,870 (GRCm39)	C251S	probably damaging	Het
Gpam	G	A	19: 55,059,417 (GRCm39)	P810L	probably damaging	Het
Il1rl2	T	A	1: 40,366,726 (GRCm39)	L87M	possibly damaging	Het
Itgae	A	G	11: 73,036,427 (GRCm39)	S1122G	probably damaging	Het
Kcnh7	T	A	2: 63,012,570 (GRCm39)	D46V	probably damaging	Het
Kcnn3	T	G	3: 89,552,830 (GRCm39)	Y511*	probably null	Het
Kdm3b	T	A	18: 34,926,058 (GRCm39)	I66N	probably damaging	Het
Klk1b27	A	T	7: 43,703,974 (GRCm39)	H39L	probably benign	Het
Kmo	C	T	1: 175,487,261 (GRCm39)	T404I	possibly damaging	Het
Krt222	C	T	11: 99,125,884 (GRCm39)		probably null	Het
Magi3	G	C	3: 103,923,013 (GRCm39)	H1235D	probably benign	Het
Mapk8ip1	C	A	2: 92,219,589 (GRCm39)	G81C	probably damaging	Het
Med15	G	A	16: 17,470,609 (GRCm39)	Q583*	probably null	Het
Mroh2a	T	C	1: 88,184,476 (GRCm39)	V1453A	probably benign	Het
Myh13	A	G	11: 67,253,327 (GRCm39)	M1488V	probably benign	Het
Naip2	A	T	13: 100,288,645 (GRCm39)	F1193L	probably damaging	Het
Nop58	T	A	1: 59,742,014 (GRCm39)	M181K	probably damaging	Het
Npepps	A	T	11: 97,104,616 (GRCm39)	V796D	probably damaging	Het
Nr1d1	A	G	11: 98,661,363 (GRCm39)	F301S	probably damaging	Het
Nynrin	G	A	14: 56,105,485 (GRCm39)	V832I	probably damaging	Het
Or13a28	C	A	7: 140,218,346 (GRCm39)	S244Y	probably damaging	Het
Or1j14	T	A	2: 36,418,353 (GRCm39)	C310S	probably benign	Het
Or2ak7	A	T	11: 58,574,830 (GRCm39)	T44S	possibly damaging	Het
Or4e1	T	A	14: 52,701,352 (GRCm39)	Y38F	probably damaging	Het
Or8k1	T	A	2: 86,047,566 (GRCm39)	T163S	possibly damaging	Het
Phrf1	T	A	7: 140,817,586 (GRCm39)	C132S	probably damaging	Het
Plekhn1	T	C	4: 156,315,015 (GRCm39)		probably null	Het
Polr2a	G	A	11: 69,635,052 (GRCm39)	T569M	probably damaging	Het
Prr29	A	G	11: 106,267,458 (GRCm39)		probably null	Het
Rsf1	CG	CGACGGCGGAG	7: 97,229,115 (GRCm39)		probably benign	Homo
Sc5d	T	C	9: 42,166,717 (GRCm39)	E274G	probably benign	Het
Serpina1d	A	T	12: 103,731,087 (GRCm39)		probably null	Het
Serpinb11	T	A	1: 107,299,972 (GRCm39)	I106N	probably damaging	Het
Setd2	G	A	9: 110,377,733 (GRCm39)	R516K	probably damaging	Het
Sirt2	G	T	7: 28,487,222 (GRCm39)	C291F	probably damaging	Het
Stac3	T	C	10: 127,344,044 (GRCm39)	V314A	probably damaging	Het
Stat6	C	T	10: 127,493,581 (GRCm39)		probably null	Het
Strn3	A	G	12: 51,656,890 (GRCm39)	V712A	probably damaging	Het
Tmc5	G	T	7: 118,233,437 (GRCm39)	G84C	possibly damaging	Het
Tnik	C	A	3: 28,704,328 (GRCm39)	L996I	probably damaging	Het
Trim30d	G	T	7: 104,136,817 (GRCm39)	T129K	probably damaging	Het
Triml1	G	T	8: 43,591,793 (GRCm39)	Y188*	probably null	Het
Trpc7	A	G	13: 56,921,705 (GRCm39)	Y760H	probably damaging	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Ubash3a	A	T	17: 31,458,246 (GRCm39)	Q575L	possibly damaging	Het
Usp49	T	A	17: 47,983,827 (GRCm39)	C61*	probably null	Het
Vmn2r18	A	T	5: 151,508,116 (GRCm39)	V336E	probably damaging	Het
Vwa8	T	C	14: 79,324,102 (GRCm39)	V1135A	probably benign	Het
Zcchc4	T	C	5: 52,940,503 (GRCm39)	V24A	probably benign	Het
Zfp354c	A	G	11: 50,705,798 (GRCm39)	Y426H	probably benign	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
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
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'- TGTCCATGTCTTGCACACGTG -3'
(R):5'- CAGCGAAGGTATAGTTCATGTGG -3'

Sequencing Primer
(F):5'- CGTGAGTCTTACAGAGATCCAG -3'
(R):5'- AGGTCACTGACTGTCACACTCG -3'

Posted On

2018-02-28