Incidental Mutation 'R5561:Ephb2'
ID |
436587 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ephb2
|
Ensembl Gene |
ENSMUSG00000028664 |
Gene Name |
Eph receptor B2 |
Synonyms |
eteck, Cek5, Qek5, Sek3, Hek5, Drt, Prkm5, Nuk, Erk, Tyro5 |
MMRRC Submission |
043118-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.760)
|
Stock # |
R5561 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
136374850-136563299 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 136388717 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 627
(V627M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101472
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059287]
[ENSMUST00000105845]
[ENSMUST00000105846]
|
AlphaFold |
P54763 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000059287
AA Change: V627M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058135 Gene: ENSMUSG00000028664 AA Change: V627M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
EPH_lbd
|
20 |
197 |
7.37e-130 |
SMART |
Pfam:GCC2_GCC3
|
261 |
304 |
8.1e-10 |
PFAM |
FN3
|
325 |
417 |
1.75e-6 |
SMART |
FN3
|
436 |
518 |
1.23e-10 |
SMART |
Pfam:EphA2_TM
|
545 |
619 |
6e-25 |
PFAM |
TyrKc
|
622 |
881 |
1.34e-138 |
SMART |
SAM
|
911 |
978 |
1.18e-23 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105845
AA Change: V626M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101471 Gene: ENSMUSG00000028664 AA Change: V626M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
EPH_lbd
|
20 |
197 |
7.37e-130 |
SMART |
Pfam:GCC2_GCC3
|
259 |
305 |
2.2e-10 |
PFAM |
FN3
|
325 |
417 |
1.75e-6 |
SMART |
FN3
|
436 |
517 |
1.41e-10 |
SMART |
Pfam:EphA2_TM
|
543 |
618 |
2.1e-30 |
PFAM |
TyrKc
|
621 |
880 |
1.34e-138 |
SMART |
SAM
|
910 |
977 |
1.18e-23 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105846
AA Change: V627M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101472 Gene: ENSMUSG00000028664 AA Change: V627M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
EPH_lbd
|
20 |
197 |
7.37e-130 |
SMART |
Pfam:GCC2_GCC3
|
259 |
305 |
2.2e-10 |
PFAM |
FN3
|
325 |
417 |
1.75e-6 |
SMART |
FN3
|
436 |
517 |
1.41e-10 |
SMART |
Pfam:EphA2_TM
|
543 |
619 |
1e-30 |
PFAM |
TyrKc
|
622 |
881 |
1.34e-138 |
SMART |
SAM
|
911 |
978 |
1.18e-23 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151502
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156558
|
SMART Domains |
Protein: ENSMUSP00000116350 Gene: ENSMUSG00000028664
Domain | Start | End | E-Value | Type |
FN3
|
1 |
85 |
6.48e1 |
SMART |
FN3
|
104 |
186 |
1.23e-10 |
SMART |
Pfam:EphA2_TM
|
213 |
276 |
2.5e-16 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.4%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the Eph receptor family of receptor tyrosine kinase transmembrane glycoproteins. These receptors consist of an N-terminal glycosylated ligand-binding domain, a transmembrane region and an intracellular kinase domain. The encoded receptor preferentially binds membrane-bound ephrin-B ligands and is involved in nervous system and vascular development. This gene is used as a marker of intestinal stem cells. Homozygous knockout mice for this gene exhibit impaired axon guidance and vestibular function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015] PHENOTYPE: Mice homozygous for a null allele exhibit abnormal axon guidance, circling, head bobbing, and hyperactivity. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630095N17Rik |
T |
C |
1: 75,197,181 (GRCm39) |
|
probably benign |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Adgrv1 |
A |
G |
13: 81,624,683 (GRCm39) |
L3762P |
probably damaging |
Het |
Amn1 |
G |
A |
6: 149,086,522 (GRCm39) |
R4W |
probably damaging |
Het |
Atxn1 |
G |
T |
13: 45,720,347 (GRCm39) |
T516N |
possibly damaging |
Het |
Atxn7 |
A |
T |
14: 14,089,260 (GRCm38) |
T259S |
probably benign |
Het |
Bsn |
C |
G |
9: 107,982,710 (GRCm39) |
R3681P |
unknown |
Het |
C8b |
T |
C |
4: 104,641,645 (GRCm39) |
Y194H |
possibly damaging |
Het |
Ccdc110 |
T |
G |
8: 46,393,646 (GRCm39) |
S119R |
probably benign |
Het |
Ccdc202 |
C |
A |
14: 96,119,807 (GRCm39) |
A188E |
probably benign |
Het |
Ceacam20 |
A |
T |
7: 19,704,318 (GRCm39) |
Q123L |
possibly damaging |
Het |
Clip3 |
A |
G |
7: 29,998,274 (GRCm39) |
D240G |
possibly damaging |
Het |
Col24a1 |
T |
C |
3: 145,004,588 (GRCm39) |
F22S |
probably benign |
Het |
Dlg5 |
T |
A |
14: 24,227,860 (GRCm39) |
M354L |
probably benign |
Het |
Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
Dnase1l3 |
A |
G |
14: 7,967,847 (GRCm38) |
V282A |
probably damaging |
Het |
Dnhd1 |
G |
A |
7: 105,364,028 (GRCm39) |
G4127S |
probably damaging |
Het |
Eed |
G |
A |
7: 89,617,001 (GRCm39) |
R165W |
probably damaging |
Het |
Fancc |
T |
C |
13: 63,465,201 (GRCm39) |
E502G |
possibly damaging |
Het |
Fbf1 |
T |
C |
11: 116,048,646 (GRCm39) |
D105G |
probably damaging |
Het |
Fer |
T |
A |
17: 64,344,580 (GRCm39) |
Y246* |
probably null |
Het |
Fer1l6 |
A |
G |
15: 58,532,674 (GRCm39) |
K1792E |
probably damaging |
Het |
Foxi2 |
A |
G |
7: 135,013,376 (GRCm39) |
D202G |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
H2-DMb2 |
G |
T |
17: 34,364,445 (GRCm39) |
|
probably null |
Het |
Helq |
G |
T |
5: 100,934,916 (GRCm39) |
D491E |
probably benign |
Het |
Hgsnat |
A |
G |
8: 26,436,362 (GRCm39) |
V564A |
possibly damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hs3st5 |
T |
A |
10: 36,709,425 (GRCm39) |
V320D |
probably damaging |
Het |
Ifit1bl1 |
A |
T |
19: 34,571,197 (GRCm39) |
L420* |
probably null |
Het |
Ift80 |
T |
G |
3: 68,875,196 (GRCm39) |
N178T |
probably benign |
Het |
Ing4 |
C |
T |
6: 125,024,023 (GRCm39) |
T89I |
possibly damaging |
Het |
Lcp1 |
G |
A |
14: 75,449,948 (GRCm39) |
D386N |
probably benign |
Het |
Mdc1 |
T |
A |
17: 36,159,438 (GRCm39) |
I606K |
probably benign |
Het |
Mllt10 |
T |
A |
2: 18,114,656 (GRCm39) |
M120K |
probably damaging |
Het |
Morc1 |
G |
T |
16: 48,269,711 (GRCm39) |
L89F |
probably benign |
Het |
Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
Nav3 |
C |
A |
10: 109,552,413 (GRCm39) |
D1810Y |
probably damaging |
Het |
Obscn |
G |
A |
11: 58,926,919 (GRCm39) |
T5532M |
probably damaging |
Het |
Opn3 |
C |
T |
1: 175,493,153 (GRCm39) |
R137H |
probably damaging |
Het |
Or12j2 |
C |
T |
7: 139,916,065 (GRCm39) |
Q97* |
probably null |
Het |
Or2d36 |
A |
G |
7: 106,747,297 (GRCm39) |
N258S |
probably benign |
Het |
Palld |
G |
A |
8: 61,969,619 (GRCm39) |
A993V |
probably damaging |
Het |
Ppp1r12c |
A |
T |
7: 4,489,355 (GRCm39) |
|
probably null |
Het |
Prdm4 |
TCTCCTCCT |
TCTCCT |
10: 85,728,987 (GRCm39) |
|
probably null |
Het |
Rapgef2 |
A |
T |
3: 78,995,950 (GRCm39) |
|
probably null |
Het |
Ring1 |
T |
C |
17: 34,240,432 (GRCm39) |
E382G |
possibly damaging |
Het |
Rpl22l1 |
T |
A |
3: 28,860,969 (GRCm39) |
N61K |
probably benign |
Het |
Rpp14 |
A |
G |
14: 8,090,558 (GRCm38) |
|
probably null |
Het |
Rusc2 |
C |
T |
4: 43,415,932 (GRCm39) |
Q413* |
probably null |
Het |
Slco3a1 |
A |
G |
7: 73,968,247 (GRCm39) |
I491T |
possibly damaging |
Het |
Smtnl1 |
C |
T |
2: 84,648,739 (GRCm39) |
V172I |
probably benign |
Het |
Spats2l |
T |
A |
1: 57,939,780 (GRCm39) |
|
probably null |
Het |
Spire1 |
T |
A |
18: 67,639,716 (GRCm39) |
N266Y |
probably damaging |
Het |
Stox2 |
T |
C |
8: 47,646,041 (GRCm39) |
H473R |
probably damaging |
Het |
Syne2 |
C |
T |
12: 76,141,232 (GRCm39) |
R121* |
probably null |
Het |
Synrg |
G |
A |
11: 83,893,066 (GRCm39) |
|
probably null |
Het |
Tm9sf1 |
C |
T |
14: 55,875,554 (GRCm39) |
V397M |
probably damaging |
Het |
Trabd |
T |
C |
15: 88,966,187 (GRCm39) |
M48T |
probably benign |
Het |
Ttn |
T |
A |
2: 76,537,577 (GRCm39) |
I26457F |
possibly damaging |
Het |
Uggt2 |
C |
T |
14: 119,278,939 (GRCm39) |
R856Q |
probably benign |
Het |
Ugt1a5 |
T |
A |
1: 88,094,039 (GRCm39) |
M89K |
probably benign |
Het |
Vmn2r53 |
A |
T |
7: 12,335,347 (GRCm39) |
S104R |
probably damaging |
Het |
Zdhhc12 |
A |
T |
2: 29,982,496 (GRCm39) |
L53Q |
probably null |
Het |
|
Other mutations in Ephb2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00336:Ephb2
|
APN |
4 |
136,384,795 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL00963:Ephb2
|
APN |
4 |
136,386,262 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01111:Ephb2
|
APN |
4 |
136,384,721 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01462:Ephb2
|
APN |
4 |
136,498,681 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL01863:Ephb2
|
APN |
4 |
136,387,088 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02149:Ephb2
|
APN |
4 |
136,421,225 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02232:Ephb2
|
APN |
4 |
136,384,762 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02269:Ephb2
|
APN |
4 |
136,498,360 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02828:Ephb2
|
APN |
4 |
136,498,461 (GRCm39) |
missense |
probably benign |
0.09 |
IGL03109:Ephb2
|
APN |
4 |
136,498,855 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03284:Ephb2
|
APN |
4 |
136,388,827 (GRCm39) |
missense |
probably damaging |
0.96 |
Zimbalist
|
UTSW |
4 |
136,387,020 (GRCm39) |
missense |
probably damaging |
1.00 |
BB006:Ephb2
|
UTSW |
4 |
136,388,195 (GRCm39) |
missense |
probably damaging |
1.00 |
BB016:Ephb2
|
UTSW |
4 |
136,388,195 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4453001:Ephb2
|
UTSW |
4 |
136,388,121 (GRCm39) |
missense |
probably benign |
0.00 |
R0004:Ephb2
|
UTSW |
4 |
136,384,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R0121:Ephb2
|
UTSW |
4 |
136,498,368 (GRCm39) |
missense |
probably damaging |
0.99 |
R0539:Ephb2
|
UTSW |
4 |
136,383,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R0614:Ephb2
|
UTSW |
4 |
136,400,676 (GRCm39) |
missense |
probably benign |
0.00 |
R0988:Ephb2
|
UTSW |
4 |
136,387,019 (GRCm39) |
missense |
possibly damaging |
0.59 |
R1471:Ephb2
|
UTSW |
4 |
136,386,262 (GRCm39) |
missense |
probably benign |
0.04 |
R1473:Ephb2
|
UTSW |
4 |
136,421,369 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1546:Ephb2
|
UTSW |
4 |
136,498,320 (GRCm39) |
missense |
probably damaging |
0.99 |
R1639:Ephb2
|
UTSW |
4 |
136,421,216 (GRCm39) |
missense |
probably benign |
0.10 |
R1725:Ephb2
|
UTSW |
4 |
136,387,089 (GRCm39) |
nonsense |
probably null |
|
R1779:Ephb2
|
UTSW |
4 |
136,421,136 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1818:Ephb2
|
UTSW |
4 |
136,382,647 (GRCm39) |
missense |
probably benign |
0.02 |
R2099:Ephb2
|
UTSW |
4 |
136,388,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R2916:Ephb2
|
UTSW |
4 |
136,411,256 (GRCm39) |
missense |
probably damaging |
0.99 |
R3885:Ephb2
|
UTSW |
4 |
136,498,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R4572:Ephb2
|
UTSW |
4 |
136,383,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R4709:Ephb2
|
UTSW |
4 |
136,423,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R4893:Ephb2
|
UTSW |
4 |
136,387,064 (GRCm39) |
missense |
probably damaging |
0.99 |
R4981:Ephb2
|
UTSW |
4 |
136,423,321 (GRCm39) |
missense |
probably benign |
0.09 |
R4992:Ephb2
|
UTSW |
4 |
136,388,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R5004:Ephb2
|
UTSW |
4 |
136,387,010 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5307:Ephb2
|
UTSW |
4 |
136,421,098 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5370:Ephb2
|
UTSW |
4 |
136,498,881 (GRCm39) |
missense |
probably benign |
0.00 |
R5643:Ephb2
|
UTSW |
4 |
136,498,923 (GRCm39) |
missense |
probably damaging |
0.99 |
R5826:Ephb2
|
UTSW |
4 |
136,388,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R5858:Ephb2
|
UTSW |
4 |
136,399,756 (GRCm39) |
missense |
probably benign |
|
R5867:Ephb2
|
UTSW |
4 |
136,402,733 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5990:Ephb2
|
UTSW |
4 |
136,423,366 (GRCm39) |
missense |
probably benign |
0.03 |
R6000:Ephb2
|
UTSW |
4 |
136,411,341 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6156:Ephb2
|
UTSW |
4 |
136,388,816 (GRCm39) |
missense |
probably benign |
0.44 |
R6413:Ephb2
|
UTSW |
4 |
136,498,433 (GRCm39) |
missense |
probably benign |
0.08 |
R6577:Ephb2
|
UTSW |
4 |
136,384,861 (GRCm39) |
missense |
probably damaging |
0.99 |
R6633:Ephb2
|
UTSW |
4 |
136,411,307 (GRCm39) |
missense |
probably benign |
0.07 |
R6720:Ephb2
|
UTSW |
4 |
136,384,813 (GRCm39) |
missense |
probably damaging |
0.99 |
R6795:Ephb2
|
UTSW |
4 |
136,400,646 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7235:Ephb2
|
UTSW |
4 |
136,421,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R7260:Ephb2
|
UTSW |
4 |
136,498,885 (GRCm39) |
missense |
probably damaging |
0.96 |
R7328:Ephb2
|
UTSW |
4 |
136,386,245 (GRCm39) |
critical splice donor site |
probably null |
|
R7404:Ephb2
|
UTSW |
4 |
136,498,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R7466:Ephb2
|
UTSW |
4 |
136,386,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R7524:Ephb2
|
UTSW |
4 |
136,387,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R7605:Ephb2
|
UTSW |
4 |
136,498,419 (GRCm39) |
missense |
probably damaging |
1.00 |
R7611:Ephb2
|
UTSW |
4 |
136,388,212 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7777:Ephb2
|
UTSW |
4 |
136,498,947 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7889:Ephb2
|
UTSW |
4 |
136,498,353 (GRCm39) |
missense |
probably damaging |
0.99 |
R7929:Ephb2
|
UTSW |
4 |
136,388,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R8191:Ephb2
|
UTSW |
4 |
136,386,256 (GRCm39) |
missense |
probably damaging |
0.96 |
R8370:Ephb2
|
UTSW |
4 |
136,383,302 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8444:Ephb2
|
UTSW |
4 |
136,388,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R8724:Ephb2
|
UTSW |
4 |
136,498,368 (GRCm39) |
missense |
probably damaging |
0.99 |
R8988:Ephb2
|
UTSW |
4 |
136,402,769 (GRCm39) |
missense |
probably benign |
0.42 |
R9410:Ephb2
|
UTSW |
4 |
136,386,948 (GRCm39) |
missense |
probably null |
1.00 |
R9722:Ephb2
|
UTSW |
4 |
136,384,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCCTTCTGTGCATGTGATG -3'
(R):5'- GCCATATAAGAGGACCCTTCCC -3'
Sequencing Primer
(F):5'- ATGGTTTTAGTAGGGCCCCTTTTAC -3'
(R):5'- GGAGGGTACTGGCTGCC -3'
|
Posted On |
2016-10-24 |