Mutagenetix > Incidental Mutation

Incidental Mutation 'R7330:Epha2'

569164

Institutional Source

Beutler Lab

Gene Symbol

Epha2

Ensembl Gene

ENSMUSG00000006445

Gene Name

Eph receptor A2

Synonyms

Sek2, Eck, Myk2, Sek-2

MMRRC Submission

045423-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.715) question?

Stock #

R7330 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

141028551-141056695 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 141035764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 67 (S67T)

Ref Sequence

ENSEMBL: ENSMUSP00000006614 (fasta)

Gene Model

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

AlphaFold

Q03145

Predicted Effect

probably benign
Transcript: ENSMUST00000006614
AA Change: S67T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000006614
Gene: ENSMUSG00000006445
AA Change: S67T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	T	C	9: 118,977,450 (GRCm39)	T411A	possibly damaging	Het
Ace	A	G	11: 105,876,887 (GRCm39)	H1123R	probably damaging	Het
Acot12	T	A	13: 91,889,651 (GRCm39)	M1K	probably null	Het
Actr2	A	T	11: 20,022,544 (GRCm39)	M309K	probably damaging	Het
Ahsa2	G	T	11: 23,440,558 (GRCm39)	T279K	probably benign	Het
Ak8	A	G	2: 28,702,947 (GRCm39)	Y437C	possibly damaging	Het
Atp1a3	T	A	7: 24,700,577 (GRCm39)	K5*	probably null	Het
Bbs2	T	A	8: 94,814,033 (GRCm39)	E195V	possibly damaging	Het
C4b	T	A	17: 34,949,446 (GRCm39)	Y1505F	probably damaging	Het
Camkk1	C	G	11: 72,917,873 (GRCm39)	N147K	probably damaging	Het
Cdh18	G	A	15: 23,227,036 (GRCm39)	V166I	possibly damaging	Het
Cep135	T	A	5: 76,754,592 (GRCm39)	C356*	probably null	Het
Cilp	A	T	9: 65,187,527 (GRCm39)	R1207S	probably benign	Het
Clcnkb	A	G	4: 141,137,923 (GRCm39)	I291T	possibly damaging	Het
Clrn3	G	T	7: 135,130,198 (GRCm39)	S12Y	probably damaging	Het
Clstn2	G	T	9: 97,343,422 (GRCm39)	A675D	probably benign	Het
Cpvl	A	G	6: 53,951,744 (GRCm39)	I13T	probably benign	Het
Cyp2c68	A	G	19: 39,677,634 (GRCm39)	I452T	probably damaging	Het
Dhh	A	G	15: 98,792,291 (GRCm39)	V239A	probably damaging	Het
Edar	T	G	10: 58,446,376 (GRCm39)	H183P	probably damaging	Het
Gapdh	A	G	6: 125,139,900 (GRCm39)	L168P	probably benign	Het
Grm4	C	T	17: 27,653,798 (GRCm39)	W717*	probably null	Het
Gtf3c1	T	C	7: 125,303,055 (GRCm39)	I127V	probably benign	Het
Igkv4-72	C	T	6: 69,204,087 (GRCm39)	A35T	probably damaging	Het
Il6st	T	A	13: 112,630,185 (GRCm39)	S344T	probably benign	Het
Ip6k1	A	G	9: 107,922,452 (GRCm39)	D168G	possibly damaging	Het
Itpr1	G	A	6: 108,415,292 (GRCm39)	R1742H	probably benign	Het
Lat2	T	A	5: 134,635,641 (GRCm39)	T58S	probably damaging	Het
Limk2	T	C	11: 3,296,311 (GRCm39)	K566E	probably benign	Het
Lonp2	C	A	8: 87,358,022 (GRCm39)	T81K	probably damaging	Het
Mdn1	C	A	4: 32,723,685 (GRCm39)	N2540K	probably benign	Het
Myt1l	T	A	12: 29,901,553 (GRCm39)	D769E	unknown	Het
Neb	C	T	2: 52,079,715 (GRCm39)	V5780M	possibly damaging	Het
Or1j18	T	A	2: 36,625,057 (GRCm39)	C241*	probably null	Het
Or5d35	C	A	2: 87,855,265 (GRCm39)	H66Q	possibly damaging	Het
Or6c8b	C	T	10: 128,882,333 (GRCm39)	V200M	probably damaging	Het
Or7g25	T	A	9: 19,160,567 (GRCm39)	I43F	probably benign	Het
Pcdhga12	T	C	18: 37,901,439 (GRCm39)	V757A	probably damaging	Het
Prpf31	A	G	7: 3,642,854 (GRCm39)	T448A	probably damaging	Het
Rbm6	A	T	9: 107,668,244 (GRCm39)	M694K	possibly damaging	Het
Ropn1l	T	C	15: 31,451,349 (GRCm39)	Y45C		Het
Selenbp1	T	A	3: 94,847,021 (GRCm39)	D182E	probably benign	Het
Son	TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC	TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC	16: 91,453,486 (GRCm39)		probably benign	Het
Spef1	G	A	2: 131,014,653 (GRCm39)	R90W	probably damaging	Het
Sspo	A	G	6: 48,452,396 (GRCm39)	S2787G	probably benign	Het
Stox2	A	G	8: 47,645,271 (GRCm39)	S730P	possibly damaging	Het
Syne1	T	C	10: 5,078,434 (GRCm39)	N997S	probably benign	Het
Tipin	A	G	9: 64,195,508 (GRCm39)	D38G	probably benign	Het
Tshz1	T	A	18: 84,032,956 (GRCm39)	K484M	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttll3	A	AAGTAC	6: 113,376,125 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,747,355 (GRCm39)	V4565I	probably benign	Het
Ubr7	A	G	12: 102,741,971 (GRCm39)	I402V	probably damaging	Het
Ucn3	A	T	13: 3,991,216 (GRCm39)	N145K	possibly damaging	Het
Utp18	A	T	11: 93,772,899 (GRCm39)		probably null	Het
Utp20	GAA	GA	10: 88,623,424 (GRCm39)		probably null	Het
Vmn1r189	A	G	13: 22,286,711 (GRCm39)	I42T	possibly damaging	Het
Vmn2r91	T	C	17: 18,326,429 (GRCm39)	M238T	probably damaging	Het
Washc5	G	T	15: 59,205,516 (GRCm39)	A1125D	probably benign	Het
Wsb2	A	G	5: 117,508,827 (GRCm39)	E87G	probably damaging	Het
Zfat	G	A	15: 68,084,600 (GRCm39)	P97L	probably benign	Het
Zfp87	T	G	13: 74,523,153 (GRCm39)	T22P	probably damaging	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
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
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'- TCTTCCCTGTAGAATGAAGGC -3'
(R):5'- GTGCCATAGTCCACATCTGAC -3'

Sequencing Primer
(F):5'- TCCCTCAGGACACAGTGAGTTTG -3'
(R):5'- CACATCTGACTCTGCATAGTAGAGG -3'

Posted On

2019-09-13