Mutagenetix > Incidental Mutation

Incidental Mutation 'R2417:Epha7'

249026

Institutional Source

Beutler Lab

Gene Symbol

Epha7

Ensembl Gene

ENSMUSG00000028289

Gene Name

Eph receptor A7

Synonyms

Ehk3, MDK1, Cek11, Mdk1, Hek11, Ebk

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.501) question?

Stock #

R2417 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28813131-28967499 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 28947579 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 613 (P613L)

Ref Sequence

ENSEMBL: ENSMUSP00000103826 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029964] [ENSMUST00000080934] [ENSMUST00000108191] [ENSMUST00000108194]

AlphaFold

Q61772

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029964
AA Change: P617L

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029964
Gene: ENSMUSG00000028289
AA Change: P617L

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EPH_lbd	32	205	3.24e-126	SMART
FN3	332	422	2.39e-8	SMART
FN3	443	524	3.12e-12	SMART
Pfam:EphA2_TM	557	630	4.4e-25	PFAM
TyrKc	633	890	8.84e-139	SMART
SAM	920	987	1.26e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000080934

SMART Domains

Protein: ENSMUSP00000079735
Gene: ENSMUSG00000028289

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EPH_lbd	32	205	3.24e-126	SMART
FN3	332	422	2.39e-8	SMART
FN3	443	524	3.12e-12	SMART
transmembrane domain	556	578	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108191
AA Change: P613L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103826
Gene: ENSMUSG00000028289
AA Change: P613L

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EPH_lbd	32	205	3.24e-126	SMART
FN3	332	422	2.39e-8	SMART
FN3	443	524	3.12e-12	SMART
Pfam:EphA2_TM	556	626	2.9e-23	PFAM
TyrKc	629	886	8.84e-139	SMART
SAM	916	983	1.26e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108194

SMART Domains

Protein: ENSMUSP00000103829
Gene: ENSMUSG00000028289

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EPH_lbd	32	205	3.24e-126	SMART
FN3	332	422	2.39e-8	SMART
FN3	443	524	3.12e-12	SMART
transmembrane domain	556	578	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129912

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.9%

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. Increased expression of this gene is associated with multiple forms of carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Some homozygous mutants display anencephaly. Mutants also exhibit increased proliferation of neural progenitor cells in the lateral ventricle wall of the adult brain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130008F23Rik	T	A	17: 41,191,101 (GRCm39)	K109N	probably benign	Het
Adcy3	T	C	12: 4,258,627 (GRCm39)	V848A	probably benign	Het
Ahnak2	G	A	12: 112,741,805 (GRCm39)	P756S	probably damaging	Het
Alpk3	C	A	7: 80,742,501 (GRCm39)	P773T	probably benign	Het
Arhgef38	T	C	3: 132,852,234 (GRCm39)	K319E	probably damaging	Het
Bbs7	C	T	3: 36,646,546 (GRCm39)	A425T	probably damaging	Het
Cacna1e	T	A	1: 154,347,939 (GRCm39)	R879W	probably damaging	Het
Cfap65	GTCTT	GTCTTCTT	1: 74,966,345 (GRCm39)		probably benign	Het
Cpsf7	T	C	19: 10,503,332 (GRCm39)		probably benign	Het
Ctf2	A	G	7: 127,318,759 (GRCm39)	V80A	probably benign	Het
Ddhd1	A	G	14: 45,894,729 (GRCm39)	L30P	probably damaging	Het
Eml1	A	G	12: 108,502,534 (GRCm39)	D700G	probably benign	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Itih3	G	A	14: 30,639,621 (GRCm39)	T400I	probably benign	Het
Lrrc14	T	A	15: 76,597,621 (GRCm39)	L117Q	probably damaging	Het
Ncbp1	C	T	4: 46,168,530 (GRCm39)	S626L	probably benign	Het
Nefh	C	T	11: 4,889,479 (GRCm39)	D1047N	unknown	Het
Ptprm	T	G	17: 67,251,321 (GRCm39)	T519P	probably damaging	Het
Sorl1	T	G	9: 41,892,007 (GRCm39)	D1881A	probably damaging	Het
Sox12	T	C	2: 152,238,717 (GRCm39)	D301G	possibly damaging	Het
Vmn2r14	C	T	5: 109,372,329 (GRCm39)	E54K	probably benign	Het
Vmn2r26	A	G	6: 124,038,309 (GRCm39)	N628S	probably damaging	Het
Zfp143	G	A	7: 109,668,803 (GRCm39)	V36M	possibly damaging	Het
Zfp850	A	T	7: 27,688,608 (GRCm39)	N533K	possibly damaging	Het

Other mutations in Epha7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00811:Epha7	APN	4	28,961,285 (GRCm39)	intron	probably benign
IGL00849:Epha7	APN	4	28,870,662 (GRCm39)	missense	possibly damaging	0.63
IGL00898:Epha7	APN	4	28,938,693 (GRCm39)	missense	probably damaging	1.00
IGL02036:Epha7	APN	4	28,950,509 (GRCm39)	missense	probably damaging	1.00
IGL02227:Epha7	APN	4	28,821,587 (GRCm39)	missense	possibly damaging	0.85
IGL02237:Epha7	APN	4	28,949,325 (GRCm39)	splice site	probably null
IGL02376:Epha7	APN	4	28,951,287 (GRCm39)	missense	probably damaging	1.00
IGL02424:Epha7	APN	4	28,948,790 (GRCm39)	intron	probably benign
IGL02519:Epha7	APN	4	28,821,494 (GRCm39)	missense	possibly damaging	0.91
IGL02522:Epha7	APN	4	28,821,494 (GRCm39)	missense	possibly damaging	0.91
IGL02524:Epha7	APN	4	28,821,494 (GRCm39)	missense	possibly damaging	0.91
IGL02602:Epha7	APN	4	28,871,877 (GRCm39)	missense	possibly damaging	0.88
Pump	UTSW	4	28,871,937 (GRCm39)	missense	probably benign	0.07
PIT4514001:Epha7	UTSW	4	28,961,355 (GRCm39)	nonsense	probably null
R0001:Epha7	UTSW	4	28,961,279 (GRCm39)	intron	probably benign
R0011:Epha7	UTSW	4	28,962,564 (GRCm39)	missense	probably benign	0.03
R0011:Epha7	UTSW	4	28,962,564 (GRCm39)	missense	probably benign	0.03
R0310:Epha7	UTSW	4	28,961,301 (GRCm39)	missense	probably benign	0.33
R0373:Epha7	UTSW	4	28,935,700 (GRCm39)	splice site	probably null
R0496:Epha7	UTSW	4	28,821,292 (GRCm39)	missense	probably damaging	1.00
R0554:Epha7	UTSW	4	28,951,401 (GRCm39)	missense	probably damaging	1.00
R0632:Epha7	UTSW	4	28,821,104 (GRCm39)	missense	probably damaging	1.00
R1677:Epha7	UTSW	4	28,947,571 (GRCm39)	nonsense	probably null
R1883:Epha7	UTSW	4	28,950,362 (GRCm39)	missense	possibly damaging	0.58
R1919:Epha7	UTSW	4	28,963,969 (GRCm39)	missense	possibly damaging	0.48
R1952:Epha7	UTSW	4	28,950,474 (GRCm39)	missense	probably damaging	0.97
R1999:Epha7	UTSW	4	28,938,686 (GRCm39)	nonsense	probably null
R2187:Epha7	UTSW	4	28,942,648 (GRCm39)	missense	possibly damaging	0.63
R2308:Epha7	UTSW	4	28,821,503 (GRCm39)	missense	possibly damaging	0.91
R3911:Epha7	UTSW	4	28,938,680 (GRCm39)	missense	probably benign	0.01
R4350:Epha7	UTSW	4	28,950,393 (GRCm39)	missense	probably damaging	0.98
R4688:Epha7	UTSW	4	28,821,367 (GRCm39)	missense	probably damaging	1.00
R4702:Epha7	UTSW	4	28,961,425 (GRCm39)	missense	probably damaging	1.00
R4957:Epha7	UTSW	4	28,871,892 (GRCm39)	missense	probably damaging	0.99
R5364:Epha7	UTSW	4	28,950,557 (GRCm39)	missense	probably damaging	1.00
R5661:Epha7	UTSW	4	28,946,217 (GRCm39)	splice site	probably null
R5820:Epha7	UTSW	4	28,949,365 (GRCm39)	missense	probably damaging	1.00
R6038:Epha7	UTSW	4	28,821,521 (GRCm39)	missense	probably damaging	1.00
R6038:Epha7	UTSW	4	28,821,521 (GRCm39)	missense	probably damaging	1.00
R6592:Epha7	UTSW	4	28,813,482 (GRCm39)	critical splice donor site	probably null
R6783:Epha7	UTSW	4	28,950,528 (GRCm39)	missense	possibly damaging	0.94
R6991:Epha7	UTSW	4	28,821,489 (GRCm39)	missense	probably damaging	1.00
R7152:Epha7	UTSW	4	28,935,826 (GRCm39)	missense	possibly damaging	0.94
R7232:Epha7	UTSW	4	28,951,279 (GRCm39)	missense	probably damaging	1.00
R7261:Epha7	UTSW	4	28,813,418 (GRCm39)	missense	probably benign	0.04
R7365:Epha7	UTSW	4	28,871,937 (GRCm39)	missense	probably benign	0.07
R7367:Epha7	UTSW	4	28,871,937 (GRCm39)	missense	probably benign	0.07
R7368:Epha7	UTSW	4	28,871,937 (GRCm39)	missense	probably benign	0.07
R7413:Epha7	UTSW	4	28,871,838 (GRCm39)	missense	probably benign	0.00
R7603:Epha7	UTSW	4	28,871,937 (GRCm39)	missense	probably benign	0.07
R7604:Epha7	UTSW	4	28,871,937 (GRCm39)	missense	probably benign	0.07
R7605:Epha7	UTSW	4	28,871,937 (GRCm39)	missense	probably benign	0.07
R7607:Epha7	UTSW	4	28,871,937 (GRCm39)	missense	probably benign	0.07
R7608:Epha7	UTSW	4	28,871,937 (GRCm39)	missense	probably benign	0.07
R7609:Epha7	UTSW	4	28,871,937 (GRCm39)	missense	probably benign	0.07
R7610:Epha7	UTSW	4	28,871,937 (GRCm39)	missense	probably benign	0.07
R8073:Epha7	UTSW	4	28,821,022 (GRCm39)	missense	probably damaging	1.00
R8263:Epha7	UTSW	4	28,821,149 (GRCm39)	missense	probably damaging	1.00
R8334:Epha7	UTSW	4	28,938,777 (GRCm39)	missense	probably benign	0.26
R8866:Epha7	UTSW	4	28,821,614 (GRCm39)	missense	probably benign	0.04
R8906:Epha7	UTSW	4	28,821,615 (GRCm39)	missense	probably damaging	0.98
R8914:Epha7	UTSW	4	28,963,892 (GRCm39)	missense	probably damaging	1.00
R9335:Epha7	UTSW	4	28,966,529 (GRCm39)	missense	probably benign	0.15
R9355:Epha7	UTSW	4	28,935,806 (GRCm39)	missense	probably damaging	1.00
R9576:Epha7	UTSW	4	28,870,659 (GRCm39)	missense	probably damaging	1.00
R9796:Epha7	UTSW	4	28,817,457 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTAAAACTGCTGTGAATGAGGTG -3'
(R):5'- GCCTCATTGCTTCCGATAGC -3'

Sequencing Primer
(F):5'- GATGTGGAAGCAAGGTCACTGTTC -3'
(R):5'- GCTTCCGATAGCTCAGGTAAATGC -3'

Posted On

2014-11-12