Mutagenetix > Incidental Mutation

Incidental Mutation 'R6757:Epha5'

531084

Institutional Source

Beutler Lab

Gene Symbol

Epha5

Ensembl Gene

ENSMUSG00000029245

Gene Name

Eph receptor A5

Synonyms

Rek7, Cek7, Els1, Ehk1, Hek7, bsk

MMRRC Submission

044873-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6757 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84202620-84565241 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 84253737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 716 (I716S)

Ref Sequence

ENSEMBL: ENSMUSP00000109033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053733] [ENSMUST00000113398] [ENSMUST00000113399] [ENSMUST00000113401] [ENSMUST00000113403] [ENSMUST00000113406]

AlphaFold

Q60629

Predicted Effect

probably damaging
Transcript: ENSMUST00000053733
AA Change: I575S

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

SMART Domains

Protein: ENSMUSP00000060646
Gene: ENSMUSG00000029245
AA Change: I575S

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
low complexity region	42	57	N/A	INTRINSIC
EPH_lbd	62	235	7e-122	SMART
FN3	307	387	1.92e-12	SMART
Pfam:EphA2_TM	413	511	2.1e-22	PFAM
TyrKc	514	771	9.33e-138	SMART
SAM	801	868	6.65e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113398
AA Change: I627S

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

SMART Domains

Protein: ENSMUSP00000109025
Gene: ENSMUSG00000029245
AA Change: I627S

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
low complexity region	42	57	N/A	INTRINSIC
EPH_lbd	62	235	7e-122	SMART
FN3	359	439	1.92e-12	SMART
Pfam:EphA2_TM	465	563	8.4e-23	PFAM
TyrKc	566	823	9.33e-138	SMART
Pfam:SAM_1	854	894	7.2e-11	PFAM
Pfam:SAM_2	856	894	1.6e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113399
AA Change: I739S

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

SMART Domains

Protein: ENSMUSP00000109026
Gene: ENSMUSG00000029245
AA Change: I739S

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
low complexity region	42	57	N/A	INTRINSIC
EPH_lbd	62	235	7e-122	SMART
FN3	360	450	1.53e-6	SMART
FN3	471	551	1.92e-12	SMART
Pfam:EphA2_TM	577	675	3.4e-22	PFAM
TyrKc	678	935	9.33e-138	SMART
Pfam:SAM_1	966	1006	2.9e-10	PFAM
Pfam:SAM_2	968	1006	5.9e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113401
AA Change: I552S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000109028
Gene: ENSMUSG00000029245
AA Change: I552S

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
low complexity region	42	57	N/A	INTRINSIC
EPH_lbd	62	235	7e-122	SMART
FN3	307	387	1.92e-12	SMART
Pfam:EphA2_TM	411	488	3.1e-30	PFAM
TyrKc	491	748	9.33e-138	SMART
Pfam:SAM_1	779	819	1.7e-10	PFAM
Pfam:SAM_2	781	819	3.5e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113403
AA Change: I739S

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

SMART Domains

Protein: ENSMUSP00000109030
Gene: ENSMUSG00000029245
AA Change: I739S

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
low complexity region	42	57	N/A	INTRINSIC
EPH_lbd	62	235	7e-122	SMART
FN3	360	450	1.53e-6	SMART
FN3	471	551	1.92e-12	SMART
Pfam:EphA2_TM	577	675	1.2e-25	PFAM
TyrKc	678	935	9.33e-138	SMART
SAM	965	1032	6.65e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113406
AA Change: I716S

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

SMART Domains

Protein: ENSMUSP00000109033
Gene: ENSMUSG00000029245
AA Change: I716S

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
low complexity region	42	57	N/A	INTRINSIC
EPH_lbd	62	235	7e-122	SMART
FN3	360	450	1.53e-6	SMART
FN3	471	551	1.92e-12	SMART
Pfam:EphA2_TM	575	652	1.9e-30	PFAM
TyrKc	655	912	9.33e-138	SMART
SAM	942	1009	6.65e-23	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154804

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

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. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous mutant mice are overtly normal but show abnormal retinal axon mapping. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,666,558 (GRCm39)	*288Y	probably null	Het
Art2a	G	T	7: 101,204,221 (GRCm39)	L106I	probably benign	Het
Bmi1	C	T	2: 18,688,840 (GRCm39)	T203M	probably damaging	Het
Cpm	A	G	10: 117,507,543 (GRCm39)	D220G	probably damaging	Het
Cyp2a22	A	C	7: 26,638,629 (GRCm39)	D52E	probably benign	Het
Dag1	A	C	9: 108,095,216 (GRCm39)	I92S	probably damaging	Het
Dntt	A	T	19: 41,025,601 (GRCm39)	H73L	probably damaging	Het
Fpr-rs4	C	T	17: 18,242,394 (GRCm39)	Q134*	probably null	Het
Fzd8	T	A	18: 9,213,238 (GRCm39)	C107S	possibly damaging	Het
Garre1	G	A	7: 33,938,502 (GRCm39)	A799V	possibly damaging	Het
Gnptab	T	C	10: 88,273,364 (GRCm39)	L1047P	probably damaging	Het
Gstt1	A	T	10: 75,634,217 (GRCm39)		probably null	Het
Kdm2a	T	C	19: 4,369,271 (GRCm39)	R1115G	probably damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Myo1b	C	T	1: 51,852,207 (GRCm39)	E179K	probably damaging	Het
Nrp1	T	A	8: 129,152,349 (GRCm39)	I186N	probably damaging	Het
Or10g3	A	G	14: 52,610,172 (GRCm39)	C113R	probably damaging	Het
Pole	T	C	5: 110,451,476 (GRCm39)	V835A	probably damaging	Het
Shprh	A	G	10: 11,057,252 (GRCm39)		probably null	Het
Slc39a14	A	T	14: 70,548,333 (GRCm39)	L238Q	probably damaging	Het
Spata31e5	A	C	1: 28,819,191 (GRCm39)	I30S	probably damaging	Het
Usp40	A	T	1: 87,907,759 (GRCm39)	I619N	probably damaging	Het

Other mutations in Epha5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00808:Epha5	APN	5	84,254,559 (GRCm39)	missense	probably damaging	1.00
IGL01084:Epha5	APN	5	84,218,946 (GRCm39)	nonsense	probably null
IGL01462:Epha5	APN	5	84,219,092 (GRCm39)	missense	probably damaging	1.00
IGL01516:Epha5	APN	5	84,534,135 (GRCm39)	missense	probably damaging	1.00
IGL01998:Epha5	APN	5	84,232,593 (GRCm39)	missense	probably damaging	1.00
IGL02744:Epha5	APN	5	84,255,848 (GRCm39)	missense	probably benign	0.22
IGL03076:Epha5	APN	5	84,479,549 (GRCm39)	missense	probably damaging	1.00
IGL03123:Epha5	APN	5	84,479,085 (GRCm39)	critical splice donor site	probably null
IGL03381:Epha5	APN	5	84,479,191 (GRCm39)	missense	probably damaging	0.98
BB001:Epha5	UTSW	5	84,232,705 (GRCm39)	missense	possibly damaging	0.71
BB011:Epha5	UTSW	5	84,232,705 (GRCm39)	missense	possibly damaging	0.71
PIT4544001:Epha5	UTSW	5	84,479,471 (GRCm39)	missense	possibly damaging	0.71
R0004:Epha5	UTSW	5	84,479,701 (GRCm39)	missense	probably damaging	1.00
R0490:Epha5	UTSW	5	84,255,833 (GRCm39)	splice site	probably benign
R0545:Epha5	UTSW	5	84,215,217 (GRCm39)	critical splice donor site	probably null
R0835:Epha5	UTSW	5	84,534,101 (GRCm39)	missense	probably damaging	1.00
R1074:Epha5	UTSW	5	84,298,255 (GRCm39)	missense	probably damaging	0.99
R1074:Epha5	UTSW	5	84,298,254 (GRCm39)	missense	probably damaging	0.99
R1075:Epha5	UTSW	5	84,298,255 (GRCm39)	missense	probably damaging	0.99
R1075:Epha5	UTSW	5	84,298,254 (GRCm39)	missense	probably damaging	0.99
R1102:Epha5	UTSW	5	84,381,434 (GRCm39)	splice site	probably benign
R1184:Epha5	UTSW	5	84,219,134 (GRCm39)	splice site	probably null
R1255:Epha5	UTSW	5	84,298,255 (GRCm39)	missense	probably damaging	0.99
R1255:Epha5	UTSW	5	84,298,254 (GRCm39)	missense	probably damaging	0.99
R1327:Epha5	UTSW	5	84,254,644 (GRCm39)	missense	probably damaging	1.00
R1437:Epha5	UTSW	5	84,381,555 (GRCm39)	missense	probably damaging	1.00
R1804:Epha5	UTSW	5	84,479,674 (GRCm39)	missense	probably benign	0.21
R1967:Epha5	UTSW	5	84,564,288 (GRCm39)	missense	probably benign	0.23
R2187:Epha5	UTSW	5	84,234,223 (GRCm39)	missense	probably damaging	1.00
R2282:Epha5	UTSW	5	84,298,269 (GRCm39)	missense	probably damaging	1.00
R2899:Epha5	UTSW	5	84,381,667 (GRCm39)	missense	probably damaging	0.99
R3746:Epha5	UTSW	5	84,206,963 (GRCm39)	missense	probably damaging	1.00
R4454:Epha5	UTSW	5	84,304,303 (GRCm39)	missense	probably damaging	1.00
R4771:Epha5	UTSW	5	84,298,278 (GRCm39)	missense	probably damaging	0.99
R4809:Epha5	UTSW	5	84,253,750 (GRCm39)	missense	possibly damaging	0.88
R4810:Epha5	UTSW	5	84,253,750 (GRCm39)	missense	possibly damaging	0.88
R4825:Epha5	UTSW	5	84,381,699 (GRCm39)	missense	probably damaging	0.97
R4833:Epha5	UTSW	5	84,253,750 (GRCm39)	missense	possibly damaging	0.88
R4961:Epha5	UTSW	5	84,381,502 (GRCm39)	missense	probably damaging	1.00
R4976:Epha5	UTSW	5	84,232,683 (GRCm39)	missense	probably damaging	1.00
R4981:Epha5	UTSW	5	84,298,342 (GRCm39)	missense	probably damaging	1.00
R5149:Epha5	UTSW	5	84,298,217 (GRCm39)	missense	probably damaging	1.00
R5422:Epha5	UTSW	5	84,479,349 (GRCm39)	missense	probably damaging	1.00
R5575:Epha5	UTSW	5	84,564,361 (GRCm39)	missense	probably damaging	0.97
R5664:Epha5	UTSW	5	84,479,725 (GRCm39)	missense	probably damaging	1.00
R5801:Epha5	UTSW	5	84,479,085 (GRCm39)	critical splice donor site	probably null
R5821:Epha5	UTSW	5	84,232,587 (GRCm39)	missense	probably damaging	1.00
R5924:Epha5	UTSW	5	84,381,533 (GRCm39)	nonsense	probably null
R5951:Epha5	UTSW	5	84,479,051 (GRCm39)	intron	probably benign
R5956:Epha5	UTSW	5	84,298,228 (GRCm39)	missense	probably damaging	0.99
R6127:Epha5	UTSW	5	84,218,953 (GRCm39)	missense	probably damaging	1.00
R6189:Epha5	UTSW	5	84,385,399 (GRCm39)	missense	probably damaging	1.00
R6240:Epha5	UTSW	5	84,265,438 (GRCm39)	missense	probably benign	0.27
R6343:Epha5	UTSW	5	84,254,606 (GRCm39)	missense	probably damaging	1.00
R6463:Epha5	UTSW	5	84,254,569 (GRCm39)	missense	probably damaging	1.00
R6517:Epha5	UTSW	5	84,304,360 (GRCm39)	missense	possibly damaging	0.63
R6622:Epha5	UTSW	5	84,385,387 (GRCm39)	missense	possibly damaging	0.79
R6667:Epha5	UTSW	5	84,219,050 (GRCm39)	missense	probably damaging	1.00
R6741:Epha5	UTSW	5	84,254,557 (GRCm39)	missense	possibly damaging	0.69
R6762:Epha5	UTSW	5	84,479,585 (GRCm39)	missense	probably damaging	1.00
R6819:Epha5	UTSW	5	84,254,649 (GRCm39)	missense	probably damaging	1.00
R7019:Epha5	UTSW	5	84,564,321 (GRCm39)	missense	possibly damaging	0.68
R7031:Epha5	UTSW	5	84,290,159 (GRCm39)	missense	probably benign	0.12
R7213:Epha5	UTSW	5	84,381,782 (GRCm39)	splice site	probably null
R7728:Epha5	UTSW	5	84,215,267 (GRCm39)	missense	possibly damaging	0.95
R7924:Epha5	UTSW	5	84,232,705 (GRCm39)	missense	possibly damaging	0.71
R7953:Epha5	UTSW	5	84,381,513 (GRCm39)	missense	probably benign	0.19
R8043:Epha5	UTSW	5	84,381,513 (GRCm39)	missense	probably benign	0.19
R8468:Epha5	UTSW	5	84,290,275 (GRCm39)	splice site	probably null
R8558:Epha5	UTSW	5	84,206,975 (GRCm39)	missense	probably damaging	1.00
R8796:Epha5	UTSW	5	84,255,850 (GRCm39)	missense	probably damaging	0.97
R9035:Epha5	UTSW	5	84,255,886 (GRCm39)	missense	probably damaging	1.00
R9060:Epha5	UTSW	5	84,218,977 (GRCm39)	missense	probably benign	0.01
R9244:Epha5	UTSW	5	84,265,441 (GRCm39)	missense	probably benign	0.28
R9347:Epha5	UTSW	5	84,479,731 (GRCm39)	missense	possibly damaging	0.51
R9355:Epha5	UTSW	5	84,253,890 (GRCm39)	missense	probably damaging	1.00
R9434:Epha5	UTSW	5	84,479,227 (GRCm39)	missense	possibly damaging	0.72
Z1088:Epha5	UTSW	5	84,385,381 (GRCm39)	missense	probably benign	0.01
Z1176:Epha5	UTSW	5	84,218,979 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- GCCCTGATCATAATGGTGGG -3'
(R):5'- CCATCTTCATCACAAGGTGAATTTGG -3'

Sequencing Primer
(F):5'- CCTGATCATAATGGTGGGCATTTAAG -3'
(R):5'- TCATCACAAGGTGAATTTGGTGAAG -3'

Posted On

2018-08-01