Mutagenetix > Incidental Mutation

Incidental Mutation 'R2308:Epha7'

244670

Institutional Source

Beutler Lab

Gene Symbol

Epha7

Ensembl Gene

ENSMUSG00000028289

Gene Name

Eph receptor A7

Synonyms

Ehk3, MDK1, Cek11, Mdk1, Hek11, Ebk

MMRRC Submission

040307-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.548) question?

Stock #

R2308 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28813131-28967499 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 28821503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 223 (E223K)

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: E223K

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029964
Gene: ENSMUSG00000028289
AA Change: E223K

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

possibly damaging
Transcript: ENSMUST00000080934
AA Change: E223K

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000079735
Gene: ENSMUSG00000028289
AA Change: E223K

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

possibly damaging
Transcript: ENSMUST00000108191
AA Change: E223K

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103826
Gene: ENSMUSG00000028289
AA Change: E223K

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

possibly damaging
Transcript: ENSMUST00000108194
AA Change: E223K

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103829
Gene: ENSMUSG00000028289
AA Change: E223K

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: ENSMUST00000136827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149030

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.9%
20x: 93.3%

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. 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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Depdc1b	G	A	13: 108,510,375 (GRCm39)	V296I	possibly damaging	Het
Dot1l	T	C	10: 80,624,903 (GRCm39)	S907P	probably damaging	Het
Ercc6	T	C	14: 32,288,366 (GRCm39)	I846T	possibly damaging	Het
Exoc4	A	G	6: 33,895,503 (GRCm39)	Y840C	probably damaging	Het
Gramd1a	T	C	7: 30,839,215 (GRCm39)	D231G	probably damaging	Het
Mark2	A	C	19: 7,259,299 (GRCm39)	S90A	probably damaging	Het
Mbd1	A	G	18: 74,409,548 (GRCm39)	Q432R	probably benign	Het
Mcm2	G	A	6: 88,869,990 (GRCm39)	R60C	probably damaging	Het
Met	T	C	6: 17,491,741 (GRCm39)	S168P	probably benign	Het
Nup210	T	C	6: 91,017,850 (GRCm39)	I304V	probably benign	Het
Or1ak2	T	A	2: 36,827,312 (GRCm39)	Y60*	probably null	Het
Or4a27	T	A	2: 88,559,428 (GRCm39)	I172F	probably damaging	Het
Ppfia4	A	G	1: 134,260,135 (GRCm39)	S43P	possibly damaging	Het
Rbbp8	A	T	18: 11,829,833 (GRCm39)	K132I	possibly damaging	Het
Rpap1	G	A	2: 119,614,247 (GRCm39)	P50L	probably benign	Het
Slc41a3	T	A	6: 90,589,102 (GRCm39)	I71K	possibly damaging	Het
Spaca7	A	T	8: 12,648,959 (GRCm39)	N127I	probably benign	Het
Stkld1	A	T	2: 26,842,726 (GRCm39)	D566V	probably damaging	Het
Tbxas1	A	G	6: 39,004,595 (GRCm39)	M281V	probably benign	Het
Txnl1	T	C	18: 63,804,691 (GRCm39)	T268A	probably benign	Het
Unc80	A	T	1: 66,688,156 (GRCm39)	I2385F	possibly damaging	Het
Vmn2r118	A	G	17: 55,931,650 (GRCm39)	I8T	probably benign	Het
Vmn2r80	T	C	10: 79,007,455 (GRCm39)	F477S	probably damaging	Het
Ythdc2	A	G	18: 44,980,815 (GRCm39)	E470G	possibly damaging	Het
Zfp352	A	G	4: 90,113,480 (GRCm39)	K540R	probably benign	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
R2417:Epha7	UTSW	4	28,947,579 (GRCm39)	missense	probably damaging	1.00
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'- AGACACCATTGCTGCAGATGAAAG -3'
(R):5'- ACTTACGTTCGCAAGTGTCCC -3'

Sequencing Primer
(F):5'- GCTGCAGATGAAAGTTTCACAC -3'
(R):5'- GCAAGTGTCCCCTTTTTGCTGATAG -3'

Posted On

2014-10-30