Incidental Mutation 'R8191:Ephb2'
ID |
635142 |
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 |
067614-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.760)
|
Stock # |
R8191 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
136374850-136563299 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 136386256 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 832
(T832I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059287]
[ENSMUST00000105845]
[ENSMUST00000105846]
|
AlphaFold |
P54763 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000059287
AA Change: T832I
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000058135 Gene: ENSMUSG00000028664 AA Change: T832I
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: T831I
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000101471 Gene: ENSMUSG00000028664 AA Change: T831I
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: T832I
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101472 Gene: ENSMUSG00000028664 AA Change: T832I
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700037C18Rik |
G |
A |
16: 3,724,918 (GRCm39) |
R49W |
probably damaging |
Het |
Adamts4 |
T |
C |
1: 171,080,292 (GRCm39) |
S282P |
|
Het |
Aqp4 |
A |
G |
18: 15,531,222 (GRCm39) |
S180P |
probably benign |
Het |
Armc2 |
T |
G |
10: 41,839,747 (GRCm39) |
E406A |
probably benign |
Het |
Atp13a3 |
A |
T |
16: 30,168,598 (GRCm39) |
Y464N |
probably damaging |
Het |
B3gnt3 |
C |
A |
8: 72,146,122 (GRCm39) |
V136L |
probably benign |
Het |
Cacna1s |
C |
T |
1: 136,035,893 (GRCm39) |
H1378Y |
probably damaging |
Het |
Ccnk |
A |
T |
12: 108,159,933 (GRCm39) |
E138D |
probably benign |
Het |
Cenpe |
A |
G |
3: 134,957,375 (GRCm39) |
K1878E |
probably benign |
Het |
Cep57l1 |
T |
A |
10: 41,616,955 (GRCm39) |
I111L |
probably damaging |
Het |
Cfap298 |
G |
T |
16: 90,727,889 (GRCm39) |
N100K |
probably damaging |
Het |
Copg2 |
T |
C |
6: 30,790,665 (GRCm39) |
I509V |
probably benign |
Het |
Cux2 |
T |
A |
5: 122,012,217 (GRCm39) |
D406V |
probably benign |
Het |
Cyp2a12 |
G |
T |
7: 26,730,529 (GRCm39) |
A165S |
probably benign |
Het |
Dnaaf5 |
T |
G |
5: 139,167,250 (GRCm39) |
S719A |
probably benign |
Het |
Dnah7c |
A |
G |
1: 46,646,618 (GRCm39) |
I1220V |
possibly damaging |
Het |
Dnai3 |
G |
T |
3: 145,800,066 (GRCm39) |
P158H |
probably damaging |
Het |
Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
Dusp10 |
T |
A |
1: 183,769,749 (GRCm39) |
D238E |
possibly damaging |
Het |
Dync1li1 |
C |
A |
9: 114,538,253 (GRCm39) |
D203E |
probably benign |
Het |
Ecpas |
A |
T |
4: 58,872,587 (GRCm39) |
|
probably null |
Het |
Eif5b |
T |
C |
1: 38,075,283 (GRCm39) |
S587P |
probably damaging |
Het |
Exoc1 |
T |
A |
5: 76,707,674 (GRCm39) |
|
probably null |
Het |
Fam193a |
T |
A |
5: 34,597,917 (GRCm39) |
N571K |
probably damaging |
Het |
Fem1a |
T |
A |
17: 56,565,356 (GRCm39) |
I483N |
probably damaging |
Het |
Fgf20 |
C |
A |
8: 40,761,361 (GRCm39) |
|
probably benign |
Het |
Fkbp1a |
C |
T |
2: 151,399,356 (GRCm39) |
P98S |
|
Het |
Gpsm3 |
A |
T |
17: 34,809,451 (GRCm39) |
D19V |
probably benign |
Het |
Ido2 |
C |
A |
8: 25,023,696 (GRCm39) |
G381W |
probably damaging |
Het |
Ifi204 |
T |
C |
1: 173,579,226 (GRCm39) |
T540A |
possibly damaging |
Het |
Isl1 |
A |
T |
13: 116,441,954 (GRCm39) |
M93K |
probably benign |
Het |
Map3k10 |
T |
A |
7: 27,362,671 (GRCm39) |
S472C |
probably damaging |
Het |
Mcrs1 |
A |
T |
15: 99,141,206 (GRCm39) |
V432E |
probably damaging |
Het |
Metap2 |
A |
G |
10: 93,701,267 (GRCm39) |
|
probably null |
Het |
Muc5b |
A |
G |
7: 141,421,421 (GRCm39) |
S4304G |
probably benign |
Het |
Myef2l |
G |
T |
3: 10,153,914 (GRCm39) |
V228F |
probably damaging |
Het |
Nell1 |
T |
C |
7: 50,098,622 (GRCm39) |
V308A |
unknown |
Het |
Or10g1b |
A |
G |
14: 52,627,987 (GRCm39) |
V81A |
probably benign |
Het |
Or4d5 |
A |
T |
9: 40,012,767 (GRCm39) |
H6Q |
probably benign |
Het |
Plxna4 |
C |
A |
6: 32,493,885 (GRCm39) |
V244F |
possibly damaging |
Het |
Pnpla6 |
T |
C |
8: 3,592,382 (GRCm39) |
S1224P |
probably benign |
Het |
Ripk4 |
A |
G |
16: 97,564,726 (GRCm39) |
|
probably benign |
Het |
Rnpep |
T |
C |
1: 135,200,172 (GRCm39) |
E261G |
possibly damaging |
Het |
Robo1 |
C |
A |
16: 72,730,142 (GRCm39) |
S194R |
probably damaging |
Het |
Rpusd1 |
C |
G |
17: 25,947,611 (GRCm39) |
Y99* |
probably null |
Het |
Scarf1 |
T |
C |
11: 75,413,065 (GRCm39) |
M437T |
probably benign |
Het |
Sh3tc2 |
G |
T |
18: 62,106,429 (GRCm39) |
D153Y |
probably damaging |
Het |
Siglec1 |
T |
C |
2: 130,927,599 (GRCm39) |
Y69C |
probably damaging |
Het |
Slc25a34 |
T |
C |
4: 141,347,895 (GRCm39) |
Y262C |
probably damaging |
Het |
Srrm2 |
T |
A |
17: 24,039,219 (GRCm39) |
N1954K |
probably damaging |
Het |
St6galnac2 |
T |
C |
11: 116,572,748 (GRCm39) |
Y236C |
probably damaging |
Het |
Stac3 |
T |
A |
10: 127,344,068 (GRCm39) |
I322N |
probably damaging |
Het |
Tcaf1 |
T |
C |
6: 42,652,190 (GRCm39) |
Q764R |
probably damaging |
Het |
Tcf20 |
G |
A |
15: 82,737,606 (GRCm39) |
R1282* |
probably null |
Het |
Tlr2 |
T |
A |
3: 83,743,821 (GRCm39) |
K754M |
probably damaging |
Het |
Tlr2 |
T |
G |
3: 83,743,822 (GRCm39) |
K754Q |
probably damaging |
Het |
Tnn |
C |
T |
1: 159,953,088 (GRCm39) |
V651M |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,701,083 (GRCm39) |
H9622R |
unknown |
Het |
Tubgcp6 |
C |
T |
15: 89,004,843 (GRCm39) |
G259S |
probably damaging |
Het |
Ubr5 |
C |
A |
15: 38,006,751 (GRCm39) |
C1174F |
|
Het |
Ugt2b35 |
T |
A |
5: 87,149,302 (GRCm39) |
S184R |
probably damaging |
Het |
Vit |
C |
T |
17: 78,853,828 (GRCm39) |
H25Y |
probably benign |
Het |
Vmn1r177 |
G |
A |
7: 23,565,736 (GRCm39) |
Q47* |
probably null |
Het |
Vmn2r104 |
A |
T |
17: 20,250,465 (GRCm39) |
V602D |
possibly damaging |
Het |
Vmn2r115 |
A |
G |
17: 23,578,530 (GRCm39) |
T668A |
probably damaging |
Het |
Vmn2r125 |
T |
G |
4: 156,703,709 (GRCm39) |
C362W |
probably damaging |
Het |
Vwa7 |
A |
G |
17: 35,238,712 (GRCm39) |
T267A |
probably damaging |
Het |
Xpa |
C |
A |
4: 46,183,225 (GRCm39) |
R188L |
possibly damaging |
Het |
Zfp143 |
C |
T |
7: 109,676,364 (GRCm39) |
T249I |
probably damaging |
Het |
Zfp607a |
A |
G |
7: 27,578,868 (GRCm39) |
E646G |
possibly damaging |
Het |
Zfp729a |
A |
T |
13: 67,769,838 (GRCm39) |
S130R |
probably benign |
Het |
Zswim3 |
C |
A |
2: 164,662,128 (GRCm39) |
Q203K |
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 |
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 |
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'- CCGATGCACAACTGGTTCTG -3'
(R):5'- GCGCGGTATAGAGAGTATCAGTC -3'
Sequencing Primer
(F):5'- CACAACTGGTTCTGTGAAGAGGTC -3'
(R):5'- TAGAGAGTATCAGTCAGGTCACTAC -3'
|
Posted On |
2020-07-13 |