Mutagenetix > Incidental Mutation

Incidental Mutation 'R7217:Epha3'

561555

Institutional Source

Beutler Lab

Gene Symbol

Epha3

Ensembl Gene

ENSMUSG00000052504

Gene Name

Eph receptor A3

Synonyms

End3, Tyro4, Cek4, Hek, Hek4, Mek4

MMRRC Submission

045289-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.273) question?

Stock #

R7217 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63363897-63684538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63372857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 949 (T949A)

Ref Sequence

ENSEMBL: ENSMUSP00000066554 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000064405
AA Change: T949A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000066554
Gene: ENSMUSG00000052504
AA Change: T949A

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

probably benign
Transcript: ENSMUST00000232049
AA Change: T948A

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

Meta Mutation Damage Score

0.0692

Coding Region Coverage

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

Validation Efficiency

91% (40/44)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	C	A	5: 138,645,188 (GRCm39)	H358N	probably benign	Het
Abcg3	A	G	5: 105,087,094 (GRCm39)	F543L	possibly damaging	Het
Asnsd1	T	C	1: 53,387,352 (GRCm39)	T92A	probably damaging	Het
Atg2a	G	T	19: 6,303,471 (GRCm39)		probably null	Het
Aven	T	A	2: 112,461,191 (GRCm39)	N327K	possibly damaging	Het
Brd9	T	C	13: 74,087,063 (GRCm39)	V116A	probably damaging	Het
Car14	A	G	3: 95,806,629 (GRCm39)	S250P	probably damaging	Het
Ccdc138	T	C	10: 58,345,422 (GRCm39)	I138T	probably benign	Het
Cmya5	A	G	13: 93,226,938 (GRCm39)	Y2717H	probably damaging	Het
Eno1b	C	A	18: 48,180,746 (GRCm39)	T308K	probably damaging	Het
Fcrl5	C	T	3: 87,351,081 (GRCm39)	T197M	probably damaging	Het
Foxp2	A	T	6: 15,416,023 (GRCm39)	Q664L	unknown	Het
Fsip2	A	T	2: 82,819,412 (GRCm39)	K5048N	possibly damaging	Het
Gcnt4	T	C	13: 97,082,818 (GRCm39)	L38P	probably damaging	Het
Gpr68	A	G	12: 100,845,058 (GRCm39)	V162A	possibly damaging	Het
Grin3a	A	T	4: 49,770,741 (GRCm39)	M677K	possibly damaging	Het
Grm7	A	G	6: 111,335,785 (GRCm39)	Y732C	probably damaging	Het
H2-T15	A	C	17: 36,367,235 (GRCm39)	M329R	probably benign	Het
Hoxb4	A	G	11: 96,209,906 (GRCm39)	E104G	probably benign	Het
Kat7	A	G	11: 95,182,390 (GRCm39)	S237P	possibly damaging	Het
Kif13b	T	C	14: 65,010,517 (GRCm39)	V1272A	probably damaging	Het
Kif20a	T	A	18: 34,762,613 (GRCm39)	H495Q	probably benign	Het
Lama1	A	T	17: 68,071,668 (GRCm39)	T852S		Het
Mep1b	T	A	18: 21,226,600 (GRCm39)	D487E	probably benign	Het
Mki67	T	C	7: 135,305,911 (GRCm39)	T656A	probably damaging	Het
Mlh3	A	G	12: 85,313,481 (GRCm39)	W902R	probably benign	Het
Muc16	A	T	9: 18,555,372 (GRCm39)	Y3640*	probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Pkd1l2	A	G	8: 117,722,536 (GRCm39)	I2424T	probably benign	Het
Prl8a2	A	G	13: 27,534,998 (GRCm39)	E91G	possibly damaging	Het
Prpf18	A	G	2: 4,650,435 (GRCm39)	V65A	probably benign	Het
Pxmp2	A	G	5: 110,433,771 (GRCm39)	V34A	probably damaging	Het
Ranbp2	T	G	10: 58,287,839 (GRCm39)	Y36D	probably damaging	Het
Rbm25	G	A	12: 83,710,991 (GRCm39)	R368Q	unknown	Het
Rims2	C	A	15: 39,339,885 (GRCm39)	L860M	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Scn8a	A	T	15: 100,868,108 (GRCm39)	M318L	probably benign	Het
Slc35b2	A	G	17: 45,875,955 (GRCm39)	T55A	probably benign	Het
Trnp1	T	C	4: 133,225,416 (GRCm39)	E118G	possibly damaging	Het
Ttll13	A	C	7: 79,903,911 (GRCm39)	K280Q	probably damaging	Het
Wdfy3	A	T	5: 102,049,785 (GRCm39)	H1680Q	probably damaging	Het
Zfp131	A	G	13: 120,237,377 (GRCm39)	I327T	probably damaging	Het
Zfp729b	A	G	13: 67,743,367 (GRCm39)	V66A	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
R6793:Epha3	UTSW	16	63,593,818 (GRCm39)	missense	probably benign	0.01
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
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'- AAAAGGACTCTTAGGCTCTGC -3'
(R):5'- TTGACACTTAGCCACTACAGTCAC -3'

Sequencing Primer
(F):5'- ACTCTTAGGCTCTGCTCTGTTATTAC -3'
(R):5'- AGCCACTACAGTCACTCCTAATTTC -3'

Posted On

2019-06-26