Mutagenetix > Incidental Mutation

Incidental Mutation 'R6793:Epha3'

532717

Institutional Source

Beutler Lab

Gene Symbol

Epha3

Ensembl Gene

ENSMUSG00000052504

Gene Name

Eph receptor A3

Synonyms

End3, Tyro4, Cek4, Hek, Hek4, Mek4

MMRRC Submission

044906-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.225) question?

Stock #

R6793 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63363897-63684538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63593818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 90 (N90S)

Ref Sequence

ENSEMBL: ENSMUSP00000066554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064405] [ENSMUST00000231270] [ENSMUST00000232049] [ENSMUST00000232461] [ENSMUST00000232654]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000064405
AA Change: N90S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000066554
Gene: ENSMUSG00000052504
AA Change: N90S

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
EPH_lbd	29	202	1.76e-127	SMART
Pfam:GCC2_GCC3	263	306	6.6e-9	PFAM
FN3	326	418	1.14e-5	SMART
FN3	437	518	4.8e-13	SMART
Pfam:EphA2_TM	543	619	8.2e-25	PFAM
TyrKc	622	879	5.16e-140	SMART
SAM	909	976	1.08e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232049
AA Change: N90S

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232461

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232654
AA Change: N90S

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

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. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene usually die within 48 hours of birth of cardiac failure. Survivors develop normally with no indications of cardiac abnormalities. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Gene trapped(2)

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	A	T	9: 124,058,052 (GRCm39)	N19K	possibly damaging	Het
A2ml1	G	A	6: 128,523,292 (GRCm39)	Q1215*	probably null	Het
Abraxas2	T	C	7: 132,476,563 (GRCm39)	I98T	probably damaging	Het
Ankrd17	G	A	5: 90,413,371 (GRCm39)	T1181I	probably damaging	Het
Bsn	T	A	9: 107,991,814 (GRCm39)	K1313*	probably null	Het
Chst4	A	T	8: 110,756,699 (GRCm39)	V388D	probably damaging	Het
Ckap5	T	G	2: 91,399,054 (GRCm39)	W613G	probably damaging	Het
Clock	GACTCACT	GACT	5: 76,384,967 (GRCm39)		probably null	Het
Enpp1	T	C	10: 24,531,723 (GRCm39)	D520G	probably damaging	Het
Esp36	A	T	17: 38,728,005 (GRCm39)	M92K	unknown	Het
Fam135a	A	G	1: 24,107,006 (GRCm39)	V44A	possibly damaging	Het
Fndc8	T	C	11: 82,788,412 (GRCm39)	S81P	probably damaging	Het
Fsip2	T	G	2: 82,819,838 (GRCm39)	N5190K	probably benign	Het
Gabrr1	T	G	4: 33,162,712 (GRCm39)	V426G	possibly damaging	Het
Igkv6-15	T	A	6: 70,383,976 (GRCm39)	M1L	probably benign	Het
Lrrc36	A	G	8: 106,185,065 (GRCm39)	E614G	probably damaging	Het
Man1a2	A	T	3: 100,539,913 (GRCm39)	I176K	possibly damaging	Het
Mapk4	T	A	18: 74,063,539 (GRCm39)	N561I	probably damaging	Het
Med15	A	T	16: 17,470,567 (GRCm39)		probably benign	Het
Mfsd2a	A	G	4: 122,844,498 (GRCm39)	V258A	probably benign	Het
Micu3	G	A	8: 40,833,736 (GRCm39)	V457I	probably damaging	Het
Mov10l1	T	A	15: 88,880,387 (GRCm39)	V291E	possibly damaging	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Ncbp1	T	C	4: 46,157,827 (GRCm39)	I355T	probably damaging	Het
Or51s1	A	G	7: 102,558,935 (GRCm39)	V37A	probably benign	Het
Or52ad1	T	C	7: 102,995,473 (GRCm39)	T221A	probably benign	Het
Otub2	A	G	12: 103,355,278 (GRCm39)		probably benign	Het
Pcdh15	T	C	10: 74,466,971 (GRCm39)	S1666P	probably damaging	Het
Pcdha12	T	A	18: 37,155,234 (GRCm39)	V651E	probably damaging	Het
Pomt1	T	C	2: 32,132,961 (GRCm39)	F186L	probably damaging	Het
Prl3d3	G	A	13: 27,345,044 (GRCm39)	A140T	probably benign	Het
Ptprn	G	A	1: 75,234,786 (GRCm39)	T267I	probably benign	Het
Qrfprl	C	T	6: 65,358,405 (GRCm39)	A43V	probably benign	Het
Rhbdd2	T	A	5: 135,665,008 (GRCm39)	I113N	probably damaging	Het
Saraf	T	A	8: 34,635,767 (GRCm39)		probably null	Het
Slc41a2	T	C	10: 83,137,022 (GRCm39)		probably null	Het
Slc47a1	A	G	11: 61,250,229 (GRCm39)	V352A	probably benign	Het
Tmem237	T	C	1: 59,153,375 (GRCm39)	T49A	probably benign	Het
Tmem273	A	C	14: 32,528,778 (GRCm39)	I48L	probably benign	Het
Tmprss11e	C	T	5: 86,863,414 (GRCm39)	C217Y	probably damaging	Het
Ubfd1	T	C	7: 121,667,103 (GRCm39)	V140A	probably benign	Het
Utrn	A	G	10: 12,516,669 (GRCm39)		probably null	Het
Utrn	T	A	10: 12,574,844 (GRCm39)	I1028F	possibly damaging	Het
Virma	C	T	4: 11,539,968 (GRCm39)	T1479M	probably damaging	Het
Vwa7	G	T	17: 35,243,867 (GRCm39)	R767L	probably benign	Het
Wdfy3	A	T	5: 102,065,297 (GRCm39)	Y1290*	probably null	Het
Zfp970	G	A	2: 177,167,338 (GRCm39)	C304Y	probably damaging	Het

Other mutations in Epha3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Epha3	APN	16	63,387,047 (GRCm39)	missense	probably damaging	1.00
IGL01358:Epha3	APN	16	63,416,109 (GRCm39)	splice site	probably benign
IGL01713:Epha3	APN	16	63,372,925 (GRCm39)	missense	probably benign	0.00
IGL02371:Epha3	APN	16	63,405,383 (GRCm39)	critical splice acceptor site	probably null
IGL03111:Epha3	APN	16	63,473,809 (GRCm39)	missense	probably damaging	0.98
IGL03208:Epha3	APN	16	63,431,452 (GRCm39)	missense	probably damaging	1.00
laterality	UTSW	16	63,388,762 (GRCm39)	missense	probably damaging	1.00
midline	UTSW	16	63,664,507 (GRCm39)	missense	possibly damaging	0.46
stride	UTSW	16	63,372,857 (GRCm39)	missense	probably benign	0.00
F2404:Epha3	UTSW	16	63,366,531 (GRCm39)	missense	probably benign	0.14
P0041:Epha3	UTSW	16	63,433,231 (GRCm39)	missense	probably damaging	1.00
PIT4498001:Epha3	UTSW	16	63,372,889 (GRCm39)	missense	probably damaging	1.00
PIT4585001:Epha3	UTSW	16	63,386,940 (GRCm39)	critical splice donor site	probably null
R0147:Epha3	UTSW	16	63,433,307 (GRCm39)	missense	possibly damaging	0.89
R0148:Epha3	UTSW	16	63,433,307 (GRCm39)	missense	possibly damaging	0.89
R0336:Epha3	UTSW	16	63,387,011 (GRCm39)	missense	probably damaging	1.00
R0738:Epha3	UTSW	16	63,415,975 (GRCm39)	missense	probably damaging	1.00
R0833:Epha3	UTSW	16	63,423,882 (GRCm39)	splice site	probably benign
R0836:Epha3	UTSW	16	63,423,882 (GRCm39)	splice site	probably benign
R0969:Epha3	UTSW	16	63,386,999 (GRCm39)	missense	probably damaging	1.00
R1160:Epha3	UTSW	16	63,593,431 (GRCm39)	missense	probably damaging	1.00
R1205:Epha3	UTSW	16	63,418,611 (GRCm39)	frame shift	probably null
R1349:Epha3	UTSW	16	63,431,416 (GRCm39)	missense	possibly damaging	0.89
R1372:Epha3	UTSW	16	63,431,416 (GRCm39)	missense	possibly damaging	0.89
R1469:Epha3	UTSW	16	63,473,857 (GRCm39)	missense	probably damaging	0.97
R1469:Epha3	UTSW	16	63,473,857 (GRCm39)	missense	probably damaging	0.97
R1500:Epha3	UTSW	16	63,416,025 (GRCm39)	missense	probably benign	0.06
R1523:Epha3	UTSW	16	63,431,311 (GRCm39)	missense	probably damaging	0.99
R1532:Epha3	UTSW	16	63,366,541 (GRCm39)	missense	probably benign	0.08
R1544:Epha3	UTSW	16	63,593,416 (GRCm39)	missense	probably damaging	1.00
R1681:Epha3	UTSW	16	63,416,091 (GRCm39)	missense	probably damaging	1.00
R1708:Epha3	UTSW	16	63,403,870 (GRCm39)	missense	probably damaging	1.00
R1803:Epha3	UTSW	16	63,422,651 (GRCm39)	missense	probably benign	0.00
R1893:Epha3	UTSW	16	63,388,762 (GRCm39)	missense	probably damaging	1.00
R1957:Epha3	UTSW	16	63,593,315 (GRCm39)	missense	probably benign	0.00
R2144:Epha3	UTSW	16	63,593,680 (GRCm39)	missense	possibly damaging	0.86
R2190:Epha3	UTSW	16	63,366,552 (GRCm39)	missense	probably benign	0.05
R2198:Epha3	UTSW	16	63,664,507 (GRCm39)	missense	possibly damaging	0.46
R2344:Epha3	UTSW	16	63,472,746 (GRCm39)	missense	possibly damaging	0.67
R2504:Epha3	UTSW	16	63,423,988 (GRCm39)	missense	probably damaging	0.97
R2911:Epha3	UTSW	16	63,472,775 (GRCm39)	missense	probably benign
R3889:Epha3	UTSW	16	63,431,327 (GRCm39)	missense	probably damaging	1.00
R4223:Epha3	UTSW	16	63,403,902 (GRCm39)	missense	probably damaging	0.99
R4836:Epha3	UTSW	16	63,403,920 (GRCm39)	missense	probably damaging	1.00
R4981:Epha3	UTSW	16	63,472,775 (GRCm39)	missense	probably benign	0.04
R5044:Epha3	UTSW	16	63,422,650 (GRCm39)	missense	possibly damaging	0.79
R5195:Epha3	UTSW	16	63,366,510 (GRCm39)	missense	possibly damaging	0.86
R5248:Epha3	UTSW	16	63,418,620 (GRCm39)	missense	probably damaging	1.00
R5478:Epha3	UTSW	16	63,403,896 (GRCm39)	missense	probably damaging	1.00
R6052:Epha3	UTSW	16	63,423,967 (GRCm39)	missense	possibly damaging	0.94
R6167:Epha3	UTSW	16	63,433,287 (GRCm39)	missense	probably benign	0.00
R6337:Epha3	UTSW	16	63,388,806 (GRCm39)	missense	probably damaging	1.00
R6342:Epha3	UTSW	16	63,403,863 (GRCm39)	missense	probably damaging	1.00
R6908:Epha3	UTSW	16	63,418,612 (GRCm39)	missense	probably damaging	1.00
R7029:Epha3	UTSW	16	63,593,698 (GRCm39)	missense	probably benign	0.37
R7059:Epha3	UTSW	16	63,388,818 (GRCm39)	missense	probably damaging	1.00
R7175:Epha3	UTSW	16	63,403,863 (GRCm39)	missense	probably damaging	1.00
R7204:Epha3	UTSW	16	63,472,695 (GRCm39)	missense	probably benign
R7217:Epha3	UTSW	16	63,372,857 (GRCm39)	missense	probably benign	0.00
R7315:Epha3	UTSW	16	63,372,972 (GRCm39)	missense	probably benign	0.00
R7389:Epha3	UTSW	16	63,593,347 (GRCm39)	missense	probably damaging	1.00
R7419:Epha3	UTSW	16	63,418,657 (GRCm39)	missense	probably damaging	1.00
R7572:Epha3	UTSW	16	63,431,443 (GRCm39)	nonsense	probably null
R7667:Epha3	UTSW	16	63,386,963 (GRCm39)	missense	probably benign	0.21
R7686:Epha3	UTSW	16	63,593,651 (GRCm39)	missense	probably damaging	1.00
R7855:Epha3	UTSW	16	63,593,923 (GRCm39)	missense	probably damaging	1.00
R8085:Epha3	UTSW	16	63,403,873 (GRCm39)	missense	probably damaging	1.00
R8167:Epha3	UTSW	16	63,388,804 (GRCm39)	missense	probably damaging	1.00
R8260:Epha3	UTSW	16	63,403,917 (GRCm39)	missense	probably damaging	1.00
R8290:Epha3	UTSW	16	63,472,859 (GRCm39)	missense	possibly damaging	0.94
R8298:Epha3	UTSW	16	63,386,961 (GRCm39)	missense	probably benign	0.16
R8350:Epha3	UTSW	16	63,472,853 (GRCm39)	missense	possibly damaging	0.91
R8450:Epha3	UTSW	16	63,472,853 (GRCm39)	missense	possibly damaging	0.91
R8470:Epha3	UTSW	16	63,664,510 (GRCm39)	missense	probably benign	0.00
R8478:Epha3	UTSW	16	63,593,444 (GRCm39)	missense	probably damaging	1.00
R8724:Epha3	UTSW	16	63,403,818 (GRCm39)	missense	probably damaging	1.00
R8862:Epha3	UTSW	16	63,431,348 (GRCm39)	missense	probably benign
R8921:Epha3	UTSW	16	63,472,838 (GRCm39)	missense	possibly damaging	0.81
R9519:Epha3	UTSW	16	63,472,668 (GRCm39)	missense	possibly damaging	0.77
R9563:Epha3	UTSW	16	63,366,510 (GRCm39)	missense	possibly damaging	0.86
R9795:Epha3	UTSW	16	63,372,910 (GRCm39)	missense	probably benign	0.00
Z1176:Epha3	UTSW	16	63,405,375 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTTTCAGAATGCGATCCCC -3'
(R):5'- GTTGGGCATCATTCCACTTAC -3'

Sequencing Primer
(F):5'- ACTTTCATCAGCGGCAATGG -3'
(R):5'- GGGCATCATTCCACTTACATCAC -3'

Posted On

2018-08-29