Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4544001:Epha5'

556404

Institutional Source

Beutler Lab

Gene Symbol

Epha5

Ensembl Gene

ENSMUSG00000029245

Gene Name

Eph receptor A5

Synonyms

Rek7, Cek7, Els1, Ehk1, Hek7, bsk

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4544001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84202620-84565241 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84479471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 178 (T178S)

Ref Sequence

ENSEMBL: ENSMUSP00000060646 (fasta)

Gene Model

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

AlphaFold

Q60629

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053733
AA Change: T178S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000060646
Gene: ENSMUSG00000029245
AA Change: T178S

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

possibly damaging
Transcript: ENSMUST00000113398
AA Change: T178S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109025
Gene: ENSMUSG00000029245
AA Change: T178S

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: T178S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109026
Gene: ENSMUSG00000029245
AA Change: T178S

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: T178S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109028
Gene: ENSMUSG00000029245
AA Change: T178S

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: T178S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109030
Gene: ENSMUSG00000029245
AA Change: T178S

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: T178S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109033
Gene: ENSMUSG00000029245
AA Change: T178S

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

Coding Region Coverage

1x: 92.9%
3x: 90.6%
10x: 84.5%
20x: 71.1%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	G	16: 14,222,943 (GRCm39)	D248G	probably damaging	Het
Abcc12	A	T	8: 87,231,875 (GRCm39)	M1358K	possibly damaging	Het
Adgrl2	C	T	3: 148,596,157 (GRCm39)	E60K	probably damaging	Het
Aff3	C	T	1: 38,249,443 (GRCm39)	A555T	probably benign	Het
Aspn	A	T	13: 49,707,458 (GRCm39)	K106*	probably null	Het
Atp8b3	A	T	10: 80,366,420 (GRCm39)	L281Q	probably benign	Het
Ccdc54	A	T	16: 50,410,343 (GRCm39)	C308S	possibly damaging	Het
Cpa1	T	C	6: 30,641,857 (GRCm39)	V227A	probably benign	Het
Dld	G	A	12: 31,385,556 (GRCm39)	Q262*	probably null	Het
Eif4e3	A	T	6: 99,609,314 (GRCm39)	W161R	probably damaging	Het
Erbb2	A	T	11: 98,311,865 (GRCm39)	T134S	probably benign	Het
Golga3	A	T	5: 110,336,556 (GRCm39)	E358D	possibly damaging	Het
Gon7	A	T	12: 102,720,409 (GRCm39)	D74E	probably benign	Het
Hmcn2	A	G	2: 31,318,262 (GRCm39)	E3869G	probably damaging	Het
Ifit1bl1	C	T	19: 34,571,415 (GRCm39)	M347I	possibly damaging	Het
Ipo5	T	A	14: 121,165,949 (GRCm39)	D331E	probably damaging	Het
Mep1a	C	T	17: 43,793,178 (GRCm39)	C355Y	probably damaging	Het
Nkain1	A	G	4: 130,532,098 (GRCm38)	S196P	probably damaging	Het
Nudt21	A	T	8: 94,746,225 (GRCm39)	F158I	unknown	Het
Padi3	T	C	4: 140,518,794 (GRCm39)	T443A	probably benign	Het
Parpbp	A	G	10: 87,950,411 (GRCm39)	V323A	possibly damaging	Het
Phkb	A	G	8: 86,738,266 (GRCm39)	I520V	probably benign	Het
Plxna1	A	G	6: 89,334,411 (GRCm39)	S73P	probably benign	Het
Rfk	T	C	19: 17,372,708 (GRCm39)	S77P	probably damaging	Het
Sdk1	A	G	5: 141,941,987 (GRCm39)	N545S	probably benign	Het
Setd2	A	G	9: 110,380,232 (GRCm39)	N1349S	probably damaging	Het
Slc22a27	T	A	19: 7,887,103 (GRCm39)	Q262L	probably damaging	Het
Slc34a3	T	C	2: 25,120,607 (GRCm39)	D440G	probably benign	Het
Slc4a4	T	C	5: 89,186,402 (GRCm39)	L161P	probably damaging	Het
Stxbp5	A	C	10: 9,693,048 (GRCm39)		probably null	Het
Tekt1	C	T	11: 72,245,660 (GRCm39)	R165H	probably damaging	Het
Tmpo	T	C	10: 90,997,976 (GRCm39)	N604D	probably benign	Het
Trpm1	A	T	7: 63,848,998 (GRCm39)		probably benign	Het
Ubqln3	A	C	7: 103,790,550 (GRCm39)	H513Q	probably damaging	Het
Ubr4	A	G	4: 139,129,871 (GRCm39)	N664D	possibly damaging	Het
Usp37	G	A	1: 74,509,738 (GRCm39)	T477I	possibly damaging	Het
Zbtb11	T	G	16: 55,818,556 (GRCm39)	L660*	probably null	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
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
R6757:Epha5	UTSW	5	84,253,737 (GRCm39)	missense	probably damaging	1.00
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'- CTCCAGTGATAGTGTCAGGGAAG -3'
(R):5'- TGGATCTCTAACGAAGGTGC -3'

Sequencing Primer
(F):5'- CCAAGTGTCTTACTACAGAGGGAC -3'
(R):5'- TCTAACGAAGGTGCTTCCAG -3'

Posted On

2019-06-07