Incidental Mutation 'R7524:Ephb2'
ID |
582833 |
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 |
045596-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.760)
|
Stock # |
R7524 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
136374850-136563299 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 136387020 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 736
(Y736H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101471
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059287]
[ENSMUST00000105845]
[ENSMUST00000105846]
|
AlphaFold |
P54763 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000059287
AA Change: Y737H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058135 Gene: ENSMUSG00000028664 AA Change: Y737H
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: Y736H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101471 Gene: ENSMUSG00000028664 AA Change: Y736H
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 |
possibly damaging
Transcript: ENSMUST00000105846
AA Change: Y737H
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000101472 Gene: ENSMUSG00000028664 AA Change: Y737H
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 |
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 |
|
Meta Mutation Damage Score |
0.9541 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (79/79) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam29 |
C |
T |
8: 56,325,395 (GRCm39) |
C353Y |
probably damaging |
Het |
Afap1l2 |
T |
A |
19: 56,906,543 (GRCm39) |
E452V |
probably damaging |
Het |
Ak6 |
A |
G |
13: 100,800,415 (GRCm39) |
D45G |
probably benign |
Het |
Arhgap17 |
G |
A |
7: 122,905,643 (GRCm39) |
P334L |
probably damaging |
Het |
Asns |
G |
T |
6: 7,677,259 (GRCm39) |
|
probably null |
Het |
Bend7 |
A |
G |
2: 4,804,791 (GRCm39) |
T424A |
probably benign |
Het |
Btbd2 |
C |
T |
10: 80,482,278 (GRCm39) |
E241K |
probably damaging |
Het |
Commd2 |
A |
C |
3: 57,557,569 (GRCm39) |
L99W |
probably damaging |
Het |
Cpne9 |
A |
T |
6: 113,279,025 (GRCm39) |
D473V |
probably damaging |
Het |
Cuzd1 |
A |
T |
7: 130,913,347 (GRCm39) |
F423L |
probably damaging |
Het |
Cyp2d9 |
T |
C |
15: 82,340,146 (GRCm39) |
F390L |
probably damaging |
Het |
Dcaf5 |
T |
A |
12: 80,423,470 (GRCm39) |
Q234L |
probably benign |
Het |
Dennd3 |
T |
G |
15: 73,396,095 (GRCm39) |
Y201* |
probably null |
Het |
Dnah17 |
T |
C |
11: 118,012,307 (GRCm39) |
D485G |
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,297,212 (GRCm39) |
T1469S |
possibly damaging |
Het |
Dnah6 |
T |
C |
6: 73,095,082 (GRCm39) |
D2167G |
probably damaging |
Het |
Dst |
T |
C |
1: 34,330,974 (GRCm39) |
V4921A |
possibly damaging |
Het |
Eri2 |
C |
G |
7: 119,384,972 (GRCm39) |
V510L |
probably benign |
Het |
Eya2 |
G |
A |
2: 165,611,246 (GRCm39) |
|
probably null |
Het |
Fastkd5 |
G |
T |
2: 130,458,048 (GRCm39) |
Q181K |
probably benign |
Het |
Fcgbp |
T |
C |
7: 27,802,391 (GRCm39) |
S1440P |
probably damaging |
Het |
Fkbp9 |
G |
A |
6: 56,845,725 (GRCm39) |
V354M |
probably damaging |
Het |
Frmpd1 |
T |
A |
4: 45,271,181 (GRCm39) |
S304T |
probably benign |
Het |
Gtf2a2 |
T |
A |
9: 69,922,629 (GRCm39) |
Y3* |
probably null |
Het |
Hagh |
G |
A |
17: 25,080,314 (GRCm39) |
V226I |
probably benign |
Het |
Hemk1 |
T |
A |
9: 107,205,484 (GRCm39) |
I293F |
probably benign |
Het |
Kcna3 |
A |
G |
3: 106,944,523 (GRCm39) |
E262G |
probably damaging |
Het |
Kcnt2 |
A |
T |
1: 140,511,793 (GRCm39) |
T983S |
probably damaging |
Het |
Klhdc3 |
A |
T |
17: 46,989,340 (GRCm39) |
H7Q |
probably damaging |
Het |
Knl1 |
A |
T |
2: 118,896,460 (GRCm39) |
Q94L |
probably damaging |
Het |
Krt12 |
T |
C |
11: 99,310,485 (GRCm39) |
D224G |
probably damaging |
Het |
Lats1 |
T |
A |
10: 7,577,742 (GRCm39) |
S289T |
possibly damaging |
Het |
Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
Map1a |
G |
A |
2: 121,120,293 (GRCm39) |
V60M |
probably damaging |
Het |
Mms22l |
T |
A |
4: 24,536,138 (GRCm39) |
F536I |
possibly damaging |
Het |
Ms4a14 |
T |
C |
19: 11,281,200 (GRCm39) |
T453A |
unknown |
Het |
Muc3a |
A |
C |
5: 137,245,020 (GRCm39) |
I151S |
probably benign |
Het |
Myorg |
C |
A |
4: 41,498,779 (GRCm39) |
V284L |
probably benign |
Het |
Oaf |
G |
A |
9: 43,134,077 (GRCm39) |
R215C |
probably damaging |
Het |
Or4c112 |
T |
A |
2: 88,854,315 (GRCm39) |
I11L |
probably benign |
Het |
Or4c125 |
A |
G |
2: 89,170,221 (GRCm39) |
C142R |
probably benign |
Het |
Or4e5 |
T |
C |
14: 52,727,750 (GRCm39) |
I224V |
probably damaging |
Het |
Or5ar1 |
T |
A |
2: 85,671,701 (GRCm39) |
M145L |
probably benign |
Het |
Or6z7 |
T |
C |
7: 6,483,586 (GRCm39) |
N190D |
probably benign |
Het |
Or7a42 |
T |
A |
10: 78,791,325 (GRCm39) |
Y95* |
probably null |
Het |
Pcdhgb4 |
A |
T |
18: 37,854,661 (GRCm39) |
D352V |
probably benign |
Het |
Pced1a |
A |
G |
2: 130,263,948 (GRCm39) |
F235L |
probably benign |
Het |
Pclo |
A |
G |
5: 14,728,317 (GRCm39) |
I2392V |
unknown |
Het |
Pld1 |
A |
T |
3: 28,078,470 (GRCm39) |
D43V |
possibly damaging |
Het |
Ppp1r1b |
C |
A |
11: 98,241,720 (GRCm39) |
A51D |
possibly damaging |
Het |
Prr23a1 |
T |
A |
9: 98,724,917 (GRCm39) |
L93H |
probably damaging |
Het |
Psg20 |
T |
C |
7: 18,418,584 (GRCm39) |
D61G |
probably benign |
Het |
Rab40b |
T |
A |
11: 121,278,878 (GRCm39) |
I31F |
probably damaging |
Het |
Rasd2 |
T |
C |
8: 75,948,709 (GRCm39) |
F212L |
probably benign |
Het |
Rbl2 |
A |
G |
8: 91,841,821 (GRCm39) |
I1006V |
probably benign |
Het |
Sema6c |
A |
G |
3: 95,074,371 (GRCm39) |
E59G |
probably benign |
Het |
Slc22a2 |
G |
T |
17: 12,824,944 (GRCm39) |
V269L |
possibly damaging |
Het |
Slc2a1 |
C |
T |
4: 118,989,809 (GRCm39) |
P149S |
probably damaging |
Het |
Smad4 |
T |
G |
18: 73,808,942 (GRCm39) |
E108D |
probably damaging |
Het |
Sorbs2 |
T |
A |
8: 46,248,693 (GRCm39) |
I648K |
probably benign |
Het |
Suclg1 |
A |
T |
6: 73,240,824 (GRCm39) |
I118F |
probably damaging |
Het |
Tasor |
T |
A |
14: 27,188,160 (GRCm39) |
C869S |
probably damaging |
Het |
Tet2 |
A |
G |
3: 133,185,990 (GRCm39) |
I1149T |
probably benign |
Het |
Tfr2 |
T |
A |
5: 137,569,751 (GRCm39) |
Y82* |
probably null |
Het |
Tfr2 |
G |
T |
5: 137,581,751 (GRCm39) |
V613L |
probably benign |
Het |
Tg |
A |
T |
15: 66,568,010 (GRCm39) |
M1305L |
probably benign |
Het |
Tmem176a |
A |
T |
6: 48,821,039 (GRCm39) |
M170L |
probably benign |
Het |
Trim71 |
T |
C |
9: 114,342,230 (GRCm39) |
N684S |
probably benign |
Het |
Tspan9 |
A |
G |
6: 127,942,214 (GRCm39) |
I212T |
probably benign |
Het |
Ttn |
A |
G |
2: 76,773,319 (GRCm39) |
V2361A |
possibly damaging |
Het |
Uqcrc1 |
C |
T |
9: 108,765,827 (GRCm39) |
T14M |
possibly damaging |
Het |
Vmn2r11 |
T |
C |
5: 109,201,848 (GRCm39) |
I219V |
probably benign |
Het |
Vmn2r76 |
T |
C |
7: 85,874,577 (GRCm39) |
H800R |
probably benign |
Het |
Vmn2r76 |
C |
T |
7: 85,879,374 (GRCm39) |
G309R |
probably benign |
Het |
Xpc |
A |
T |
6: 91,476,513 (GRCm39) |
C529S |
probably benign |
Het |
Zfp455 |
T |
A |
13: 67,355,688 (GRCm39) |
S254T |
possibly damaging |
Het |
Zfp746 |
T |
C |
6: 48,041,823 (GRCm39) |
H301R |
possibly damaging |
Het |
Zyg11a |
A |
T |
4: 108,049,271 (GRCm39) |
I490N |
probably damaging |
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 |
R5561:Ephb2
|
UTSW |
4 |
136,388,717 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- CGGAGAGATGATTATGCCCAGG -3'
(R):5'- CAAGTTGGCTTCTCTGAGATTGC -3'
Sequencing Primer
(F):5'- ATGATTATGCCCAGGGACCCTTG -3'
(R):5'- CTTCTCTGAGATTGCCAGGCG -3'
|
Posted On |
2019-10-17 |