Incidental Mutation 'R8043:Epha5'
ID |
618617 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epha5
|
Ensembl Gene |
ENSMUSG00000029245 |
Gene Name |
Eph receptor A5 |
Synonyms |
Rek7, Cek7, Els1, Ehk1, Hek7, bsk |
MMRRC Submission |
067480-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8043 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
84202620-84565241 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 84381513 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 446
(V446A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109030
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053733]
[ENSMUST00000113398]
[ENSMUST00000113399]
[ENSMUST00000113401]
[ENSMUST00000113403]
[ENSMUST00000113406]
|
AlphaFold |
Q60629 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053733
|
SMART Domains |
Protein: ENSMUSP00000060646 Gene: ENSMUSG00000029245
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 benign
Transcript: ENSMUST00000113398
|
SMART Domains |
Protein: ENSMUSP00000109025 Gene: ENSMUSG00000029245
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 benign
Transcript: ENSMUST00000113399
AA Change: V446A
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000109026 Gene: ENSMUSG00000029245 AA Change: V446A
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 benign
Transcript: ENSMUST00000113401
|
SMART Domains |
Protein: ENSMUSP00000109028 Gene: ENSMUSG00000029245
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 benign
Transcript: ENSMUST00000113403
AA Change: V446A
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000109030 Gene: ENSMUSG00000029245 AA Change: V446A
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 benign
Transcript: ENSMUST00000113406
AA Change: V446A
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000109033 Gene: ENSMUSG00000029245 AA Change: V446A
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 |
0.2247 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
98% (50/51) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
T |
C |
5: 124,211,665 (GRCm39) |
Y628C |
probably damaging |
Het |
Alpk2 |
C |
T |
18: 65,482,901 (GRCm39) |
C369Y |
probably damaging |
Het |
Atl1 |
T |
C |
12: 70,005,989 (GRCm39) |
Y432H |
probably damaging |
Het |
Cacnb4 |
C |
T |
2: 52,355,663 (GRCm39) |
V215M |
probably damaging |
Het |
Cep170 |
C |
T |
1: 176,596,808 (GRCm39) |
M516I |
probably damaging |
Het |
Cep83 |
A |
C |
10: 94,573,804 (GRCm39) |
N231T |
probably damaging |
Het |
Cfap44 |
G |
A |
16: 44,234,054 (GRCm39) |
G338D |
probably benign |
Het |
Col6a6 |
A |
T |
9: 105,576,219 (GRCm39) |
V2047E |
probably damaging |
Het |
Coro1c |
C |
T |
5: 114,003,820 (GRCm39) |
|
silent |
Het |
Cplx4 |
A |
T |
18: 66,090,190 (GRCm39) |
|
probably null |
Het |
Csf1r |
G |
C |
18: 61,257,947 (GRCm39) |
G639R |
probably damaging |
Het |
Esam |
T |
C |
9: 37,448,317 (GRCm39) |
V252A |
probably damaging |
Het |
F13b |
T |
G |
1: 139,450,186 (GRCm39) |
M616R |
probably benign |
Het |
Fbxw21 |
T |
C |
9: 108,975,694 (GRCm39) |
Y234C |
probably benign |
Het |
Fshr |
C |
T |
17: 89,293,818 (GRCm39) |
E287K |
probably benign |
Het |
Fstl4 |
T |
C |
11: 52,891,050 (GRCm39) |
S63P |
probably benign |
Het |
Glra1 |
G |
A |
11: 55,424,688 (GRCm39) |
P174L |
probably damaging |
Het |
Golga7 |
A |
T |
8: 23,746,731 (GRCm39) |
C24S |
possibly damaging |
Het |
Gpr3 |
G |
A |
4: 132,938,271 (GRCm39) |
R134C |
probably damaging |
Het |
Greb1 |
T |
C |
12: 16,761,790 (GRCm39) |
E530G |
probably damaging |
Het |
Hmgcs2 |
C |
T |
3: 98,198,444 (GRCm39) |
R116C |
probably damaging |
Het |
Kcnj9 |
C |
A |
1: 172,153,623 (GRCm39) |
R167L |
probably damaging |
Het |
Kcnq5 |
T |
A |
1: 21,549,644 (GRCm39) |
Q361L |
probably damaging |
Het |
Lrrc40 |
T |
C |
3: 157,769,397 (GRCm39) |
S532P |
possibly damaging |
Het |
Mob3a |
A |
T |
10: 80,525,846 (GRCm39) |
I155N |
probably damaging |
Het |
Mpi |
A |
T |
9: 57,457,881 (GRCm39) |
L107Q |
probably damaging |
Het |
Npffr2 |
G |
A |
5: 89,730,513 (GRCm39) |
V148I |
probably benign |
Het |
Nrp1 |
G |
T |
8: 129,158,504 (GRCm39) |
V264L |
probably benign |
Het |
Oas1a |
T |
C |
5: 121,035,080 (GRCm39) |
E360G |
probably benign |
Het |
Or4k15c |
A |
T |
14: 50,321,367 (GRCm39) |
I257N |
possibly damaging |
Het |
Or52e8 |
A |
T |
7: 104,625,080 (GRCm39) |
Y41* |
probably null |
Het |
Or5b96 |
A |
C |
19: 12,867,095 (GRCm39) |
V282G |
probably damaging |
Het |
Pcdha2 |
A |
G |
18: 37,072,579 (GRCm39) |
D70G |
probably benign |
Het |
Pcsk2 |
A |
T |
2: 143,655,450 (GRCm39) |
K545* |
probably null |
Het |
Phf11b |
T |
C |
14: 59,568,722 (GRCm39) |
S64G |
probably benign |
Het |
Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
Pygo2 |
T |
C |
3: 89,340,235 (GRCm39) |
L211P |
possibly damaging |
Het |
Rbbp6 |
C |
T |
7: 122,584,468 (GRCm39) |
T161I |
probably damaging |
Het |
Rcsd1 |
A |
T |
1: 165,482,911 (GRCm39) |
I390N |
probably benign |
Het |
Rpl21 |
T |
C |
5: 146,772,702 (GRCm39) |
V141A |
probably benign |
Het |
Rufy3 |
C |
A |
5: 88,790,851 (GRCm39) |
D517E |
probably benign |
Het |
Ryr3 |
A |
T |
2: 112,606,009 (GRCm39) |
L2417Q |
probably damaging |
Het |
Ryr3 |
C |
T |
2: 112,705,422 (GRCm39) |
E831K |
probably damaging |
Het |
Sipa1l1 |
A |
C |
12: 82,496,700 (GRCm39) |
Q1744P |
probably damaging |
Het |
Sirt6 |
A |
G |
10: 81,458,240 (GRCm39) |
|
probably null |
Het |
Slain1 |
C |
A |
14: 103,925,782 (GRCm39) |
Q377K |
possibly damaging |
Het |
Slc30a6 |
T |
G |
17: 74,730,018 (GRCm39) |
S303A |
probably damaging |
Het |
Sorcs3 |
T |
A |
19: 48,752,734 (GRCm39) |
L843Q |
possibly damaging |
Het |
Usp45 |
G |
A |
4: 21,824,543 (GRCm39) |
A432T |
probably benign |
Het |
Vmn1r91 |
T |
A |
7: 19,835,218 (GRCm39) |
S46T |
possibly damaging |
Het |
Ybx3 |
T |
C |
6: 131,361,469 (GRCm39) |
N100S |
probably benign |
Het |
Zfp747 |
A |
G |
7: 126,973,225 (GRCm39) |
L315P |
probably benign |
Het |
Zfp750 |
T |
C |
11: 121,402,706 (GRCm39) |
T681A |
probably benign |
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 |
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 |
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'- GGGGCATTCTTTCACAGGAC -3'
(R):5'- CTCGGAATGCCATCTCAAATG -3'
Sequencing Primer
(F):5'- GCATTCTTTCACAGGACCTAGTAGG -3'
(R):5'- GATTCCGCCTGCTGACACTG -3'
|
Posted On |
2020-01-23 |