Incidental Mutation 'R6343:Epha5'
ID |
513995 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epha5
|
Ensembl Gene |
ENSMUSG00000029245 |
Gene Name |
Eph receptor A5 |
Synonyms |
Rek7, Cek7, Els1, Ehk1, Hek7, bsk |
MMRRC Submission |
044497-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6343 (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 T
at 84254606 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 644
(H644Q)
|
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: H503Q
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000060646 Gene: ENSMUSG00000029245 AA Change: H503Q
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: H555Q
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000109025 Gene: ENSMUSG00000029245 AA Change: H555Q
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: H667Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109026 Gene: ENSMUSG00000029245 AA Change: H667Q
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: H480Q
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000109028 Gene: ENSMUSG00000029245 AA Change: H480Q
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: H667Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109030 Gene: ENSMUSG00000029245 AA Change: H667Q
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: H644Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109033 Gene: ENSMUSG00000029245 AA Change: H644Q
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: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (51/51) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
A |
T |
11: 110,205,378 (GRCm39) |
L301Q |
probably damaging |
Het |
Adgrl4 |
T |
C |
3: 151,223,443 (GRCm39) |
L632P |
probably damaging |
Het |
Cacna2d1 |
T |
A |
5: 16,527,562 (GRCm39) |
I539N |
probably benign |
Het |
Camta1 |
T |
A |
4: 151,164,306 (GRCm39) |
H314L |
probably damaging |
Het |
Car2 |
T |
C |
3: 14,953,025 (GRCm39) |
S56P |
probably damaging |
Het |
Chrm5 |
G |
A |
2: 112,309,793 (GRCm39) |
A441V |
probably damaging |
Het |
Ckap5 |
T |
A |
2: 91,426,819 (GRCm39) |
N1380K |
possibly damaging |
Het |
Cspg4 |
T |
C |
9: 56,799,976 (GRCm39) |
V1580A |
probably benign |
Het |
Dcc |
A |
G |
18: 71,469,106 (GRCm39) |
L1099P |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Eya3 |
T |
C |
4: 132,400,221 (GRCm39) |
I80T |
probably damaging |
Het |
Fdft1 |
A |
T |
14: 63,388,721 (GRCm39) |
Y304N |
probably damaging |
Het |
Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
Gpatch2l |
T |
A |
12: 86,307,379 (GRCm39) |
Y252* |
probably null |
Het |
Hivep1 |
G |
T |
13: 42,313,147 (GRCm39) |
G1796* |
probably null |
Het |
Irf8 |
T |
C |
8: 121,480,446 (GRCm39) |
V228A |
probably damaging |
Het |
Islr |
A |
C |
9: 58,064,379 (GRCm39) |
V376G |
probably damaging |
Het |
Kdm5a |
T |
C |
6: 120,359,894 (GRCm39) |
V230A |
probably benign |
Het |
Lpgat1 |
A |
G |
1: 191,508,684 (GRCm39) |
|
probably null |
Het |
Lrp8 |
T |
C |
4: 107,726,353 (GRCm39) |
|
probably null |
Het |
Lyzl4 |
A |
C |
9: 121,407,150 (GRCm39) |
S127A |
possibly damaging |
Het |
Map4k1 |
T |
C |
7: 28,699,715 (GRCm39) |
V606A |
possibly damaging |
Het |
Mau2 |
T |
A |
8: 70,484,173 (GRCm39) |
K138N |
probably damaging |
Het |
Meikin |
T |
C |
11: 54,261,592 (GRCm39) |
L33P |
probably damaging |
Het |
Mrpl28 |
T |
C |
17: 26,345,252 (GRCm39) |
V224A |
probably benign |
Het |
Ncdn |
T |
C |
4: 126,640,964 (GRCm39) |
D512G |
possibly damaging |
Het |
Nlrp2 |
T |
A |
7: 5,303,925 (GRCm39) |
Q200L |
possibly damaging |
Het |
Nup98 |
T |
C |
7: 101,843,957 (GRCm39) |
N89S |
possibly damaging |
Het |
Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
Or14a258 |
T |
A |
7: 86,035,059 (GRCm39) |
R270* |
probably null |
Het |
Or52p2 |
A |
G |
7: 102,237,753 (GRCm39) |
C66R |
probably damaging |
Het |
Or5b12 |
G |
T |
19: 12,896,946 (GRCm39) |
H242Q |
probably damaging |
Het |
Or6c201 |
A |
T |
10: 128,969,535 (GRCm39) |
L34* |
probably null |
Het |
Padi3 |
C |
T |
4: 140,530,819 (GRCm39) |
V68I |
possibly damaging |
Het |
Pign |
A |
T |
1: 105,512,820 (GRCm39) |
M621K |
probably benign |
Het |
Pigv |
C |
T |
4: 133,392,547 (GRCm39) |
V208M |
probably damaging |
Het |
Ripk4 |
A |
G |
16: 97,564,726 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
A |
G |
7: 97,310,124 (GRCm39) |
K285E |
probably benign |
Het |
Serpina3k |
G |
C |
12: 104,311,562 (GRCm39) |
G380A |
probably benign |
Het |
Sorbs1 |
A |
G |
19: 40,365,426 (GRCm39) |
|
probably null |
Het |
Srrd |
G |
C |
5: 112,487,866 (GRCm39) |
A104G |
probably benign |
Het |
Tbp |
T |
A |
17: 15,721,351 (GRCm39) |
|
probably null |
Het |
Tecrl |
G |
A |
5: 83,442,447 (GRCm39) |
H209Y |
probably damaging |
Het |
Tmprss11c |
A |
G |
5: 86,404,204 (GRCm39) |
L157P |
probably damaging |
Het |
Tmprss13 |
A |
T |
9: 45,254,498 (GRCm39) |
T422S |
possibly damaging |
Het |
Ttll5 |
A |
G |
12: 86,003,473 (GRCm39) |
H1103R |
probably benign |
Het |
Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
Vldlr |
A |
G |
19: 27,223,049 (GRCm39) |
Y699C |
probably damaging |
Het |
Vmn1r22 |
T |
G |
6: 57,877,563 (GRCm39) |
N138T |
possibly 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 |
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'- TCAACTACACAGAAGATAGGATCG -3'
(R):5'- AAAGGCATGTTCTTGCAACTC -3'
Sequencing Primer
(F):5'- CTGTTGTACAAACAAAGGTG -3'
(R):5'- CTTGCAACTCAACCATCTTTAGAAG -3'
|
Posted On |
2018-04-27 |