Incidental Mutation 'R6127:Epha5'
ID |
487440 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epha5
|
Ensembl Gene |
ENSMUSG00000029245 |
Gene Name |
Eph receptor A5 |
Synonyms |
Rek7, Cek7, Els1, Ehk1, Hek7, bsk |
MMRRC Submission |
044274-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6127 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
84202620-84565241 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 84218953 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 937
(K937N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109030
(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: K773N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000060646 Gene: ENSMUSG00000029245 AA Change: K773N
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: K825N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109025 Gene: ENSMUSG00000029245 AA Change: K825N
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: K937N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109026 Gene: ENSMUSG00000029245 AA Change: K937N
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 |
possibly damaging
Transcript: ENSMUST00000113401
AA Change: K750N
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000109028 Gene: ENSMUSG00000029245 AA Change: K750N
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: K937N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109030 Gene: ENSMUSG00000029245 AA Change: K937N
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: K914N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109033 Gene: ENSMUSG00000029245 AA Change: K914N
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
98% (49/50) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003F12Rik |
A |
G |
2: 154,391,509 (GRCm39) |
E92G |
probably damaging |
Het |
4931429L15Rik |
T |
A |
9: 46,220,220 (GRCm39) |
D104V |
probably damaging |
Het |
Actl9 |
T |
C |
17: 33,652,354 (GRCm39) |
V138A |
probably benign |
Het |
Agl |
T |
A |
3: 116,551,978 (GRCm39) |
I1204F |
probably damaging |
Het |
Akna |
G |
T |
4: 63,286,356 (GRCm39) |
T1381N |
possibly damaging |
Het |
Atm |
A |
C |
9: 53,435,809 (GRCm39) |
L167W |
probably damaging |
Het |
Atp2b2 |
C |
T |
6: 113,790,838 (GRCm39) |
E189K |
probably damaging |
Het |
Bend7 |
A |
G |
2: 4,768,088 (GRCm39) |
D348G |
probably damaging |
Het |
Cactin |
G |
A |
10: 81,160,143 (GRCm39) |
R412H |
possibly damaging |
Het |
Carmil1 |
T |
C |
13: 24,220,335 (GRCm39) |
T726A |
probably benign |
Het |
Csmd3 |
T |
A |
15: 47,513,624 (GRCm39) |
I2829F |
probably damaging |
Het |
Ddx50 |
A |
T |
10: 62,457,342 (GRCm39) |
|
probably null |
Het |
Fblim1 |
G |
A |
4: 141,312,033 (GRCm39) |
R231C |
probably damaging |
Het |
Fuca1 |
T |
A |
4: 135,662,122 (GRCm39) |
I350N |
probably damaging |
Het |
Hagh |
G |
T |
17: 25,079,978 (GRCm39) |
M152I |
probably damaging |
Het |
Hexd |
T |
C |
11: 121,107,825 (GRCm39) |
V185A |
possibly damaging |
Het |
Ireb2 |
A |
G |
9: 54,789,652 (GRCm39) |
T109A |
probably benign |
Het |
Kcnh2 |
A |
G |
5: 24,530,001 (GRCm39) |
Y702H |
probably damaging |
Het |
Leng1 |
G |
A |
7: 3,665,866 (GRCm39) |
P157L |
probably damaging |
Het |
Maea |
C |
T |
5: 33,492,862 (GRCm39) |
|
probably benign |
Het |
Mertk |
G |
T |
2: 128,580,211 (GRCm39) |
V222F |
probably damaging |
Het |
Mroh2a |
T |
C |
1: 88,162,334 (GRCm39) |
|
probably null |
Het |
Muc13 |
G |
A |
16: 33,619,317 (GRCm39) |
A22T |
unknown |
Het |
Muc16 |
T |
A |
9: 18,569,174 (GRCm39) |
H1115L |
unknown |
Het |
Or2y1d |
C |
A |
11: 49,321,633 (GRCm39) |
T110K |
probably damaging |
Het |
Or5ae2 |
T |
A |
7: 84,506,410 (GRCm39) |
L278M |
probably damaging |
Het |
Or5l13 |
T |
A |
2: 87,779,705 (GRCm39) |
S291C |
probably damaging |
Het |
Or6c69 |
A |
G |
10: 129,747,284 (GRCm39) |
Y288H |
probably damaging |
Het |
Pak5 |
G |
A |
2: 135,929,326 (GRCm39) |
P619L |
probably damaging |
Het |
Pcdh17 |
A |
G |
14: 84,770,500 (GRCm39) |
K993E |
probably damaging |
Het |
Pcdhga3 |
A |
T |
18: 37,807,757 (GRCm39) |
Q70L |
probably damaging |
Het |
Pcdhgb5 |
C |
A |
18: 37,865,932 (GRCm39) |
R576S |
probably damaging |
Het |
Pold1 |
T |
C |
7: 44,191,545 (GRCm39) |
Y147C |
probably damaging |
Het |
Prag1 |
T |
C |
8: 36,614,555 (GRCm39) |
L1369P |
unknown |
Het |
Psg29 |
T |
A |
7: 16,945,671 (GRCm39) |
F414I |
probably benign |
Het |
Robo1 |
A |
T |
16: 72,809,956 (GRCm39) |
M1235L |
probably benign |
Het |
Rp1 |
C |
A |
1: 4,419,534 (GRCm39) |
S526I |
possibly damaging |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Setd7 |
G |
A |
3: 51,437,502 (GRCm39) |
T251I |
probably damaging |
Het |
Slc25a41 |
T |
A |
17: 57,341,914 (GRCm39) |
Y145F |
probably damaging |
Het |
Stag1 |
T |
C |
9: 100,833,750 (GRCm39) |
V1121A |
probably benign |
Het |
Svip |
T |
C |
7: 51,653,201 (GRCm39) |
T38A |
probably benign |
Het |
Tacc2 |
A |
T |
7: 130,227,845 (GRCm39) |
H1510L |
possibly damaging |
Het |
Trav19 |
A |
G |
14: 54,082,999 (GRCm39) |
T25A |
probably benign |
Het |
Trip4 |
A |
T |
9: 65,773,752 (GRCm39) |
|
probably null |
Het |
Tulp1 |
T |
A |
17: 28,575,124 (GRCm39) |
H447L |
probably benign |
Het |
Vmn1r200 |
A |
T |
13: 22,579,373 (GRCm39) |
T59S |
probably benign |
Het |
Vmn2r51 |
A |
T |
7: 9,839,558 (GRCm39) |
L10H |
probably damaging |
Het |
Wee2 |
T |
C |
6: 40,426,701 (GRCm39) |
Y157H |
probably damaging |
Het |
Xrn1 |
T |
C |
9: 95,851,542 (GRCm39) |
S187P |
probably damaging |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
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 |
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'- GGCAAAGGTCCTTCCAGGTA -3'
(R):5'- AGACTCTTCTGTGTTGCCTTG -3'
Sequencing Primer
(F):5'- GGCAAAGGTCCTTCCAGGTATAATTG -3'
(R):5'- CCTTGTTGGTGGTGTGGACC -3'
|
Posted On |
2017-10-10 |