Incidental Mutation 'R7611:Ephb2'
| ID |
588589 |
| 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 |
045715-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.760)
|
| Stock # |
R7611 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
136374850-136563299 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 136388212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101471
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059287]
[ENSMUST00000105845]
[ENSMUST00000105846]
|
| AlphaFold |
P54763 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000059287
|
| SMART Domains |
Protein: ENSMUSP00000058135
Gene: ENSMUSG00000028664
| 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 null
Transcript: ENSMUST00000105845
|
| SMART Domains |
Protein: ENSMUSP00000101471
Gene: ENSMUSG00000028664
| 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 null
Transcript: ENSMUST00000105846
|
| SMART Domains |
Protein: ENSMUSP00000101472
Gene: ENSMUSG00000028664
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Adcy8 |
C |
T |
15: 64,792,882 (GRCm39) |
G25S |
probably benign |
Het |
| Ahnak2 |
G |
T |
12: 112,751,749 (GRCm39) |
D35E |
|
Het |
| Birc6 |
T |
C |
17: 74,969,713 (GRCm39) |
M4261T |
probably damaging |
Het |
| Caln1 |
T |
G |
5: 130,534,918 (GRCm39) |
F45V |
probably damaging |
Het |
| Camta2 |
A |
T |
11: 70,572,372 (GRCm39) |
I313N |
possibly damaging |
Het |
| Capns1 |
T |
A |
7: 29,889,539 (GRCm39) |
E220V |
probably damaging |
Het |
| Carmil1 |
C |
A |
13: 24,197,315 (GRCm39) |
V1374L |
probably benign |
Het |
| Casp2 |
T |
G |
6: 42,250,972 (GRCm39) |
L290R |
possibly damaging |
Het |
| Cdkn2b |
C |
A |
4: 89,228,980 (GRCm39) |
V19L |
probably benign |
Het |
| Ces1c |
T |
C |
8: 93,851,139 (GRCm39) |
N162D |
probably benign |
Het |
| Cfap96 |
A |
G |
8: 46,423,488 (GRCm39) |
Y75H |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,763,017 (GRCm39) |
S2281P |
probably damaging |
Het |
| Chst13 |
T |
C |
6: 90,285,999 (GRCm39) |
D321G |
probably damaging |
Het |
| Ckap2l |
G |
T |
2: 129,127,600 (GRCm39) |
P193T |
possibly damaging |
Het |
| Clca4b |
T |
A |
3: 144,627,757 (GRCm39) |
T405S |
probably benign |
Het |
| Cmah |
T |
C |
13: 24,619,630 (GRCm39) |
V265A |
probably benign |
Het |
| Cyp3a11 |
A |
T |
5: 145,797,191 (GRCm39) |
M396K |
probably benign |
Het |
| Ddr2 |
A |
T |
1: 169,825,727 (GRCm39) |
M291K |
possibly damaging |
Het |
| Ddx43 |
T |
A |
9: 78,309,635 (GRCm39) |
I145N |
probably benign |
Het |
| Fgfr1 |
A |
T |
8: 26,048,221 (GRCm39) |
K106* |
probably null |
Het |
| Gpr6 |
A |
G |
10: 40,946,875 (GRCm39) |
F236L |
probably benign |
Het |
| Grin2c |
A |
G |
11: 115,143,511 (GRCm39) |
S750P |
probably damaging |
Het |
| Hecw2 |
A |
G |
1: 53,952,459 (GRCm39) |
S925P |
probably damaging |
Het |
| Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
| Hmg20b |
T |
A |
10: 81,185,432 (GRCm39) |
|
probably benign |
Het |
| Kcnk10 |
T |
A |
12: 98,484,899 (GRCm39) |
Y79F |
probably damaging |
Het |
| Lrrc30 |
A |
T |
17: 67,939,424 (GRCm39) |
F52Y |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,036,432 (GRCm39) |
K907R |
possibly damaging |
Het |
| Mbd3 |
T |
C |
10: 80,231,352 (GRCm39) |
D63G |
probably damaging |
Het |
| Mettl21a |
C |
T |
1: 64,654,266 (GRCm39) |
A84T |
probably benign |
Het |
| Mmp19 |
A |
G |
10: 128,634,857 (GRCm39) |
D491G |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,852,387 (GRCm39) |
|
probably null |
Het |
| Myh1 |
A |
T |
11: 67,101,243 (GRCm39) |
H673L |
possibly damaging |
Het |
| Nlrc5 |
T |
C |
8: 95,239,276 (GRCm39) |
|
probably null |
Het |
| Nme9 |
T |
A |
9: 99,352,843 (GRCm39) |
S264R |
probably benign |
Het |
| Nup153 |
T |
C |
13: 46,840,798 (GRCm39) |
T937A |
probably benign |
Het |
| Obsl1 |
T |
C |
1: 75,482,024 (GRCm39) |
E282G |
probably damaging |
Het |
| Or1o3 |
A |
G |
17: 37,573,745 (GRCm39) |
V270A |
probably benign |
Het |
| Or2w2 |
A |
G |
13: 21,758,488 (GRCm39) |
V46A |
probably benign |
Het |
| Or4l15 |
C |
A |
14: 50,198,368 (GRCm39) |
A54S |
probably benign |
Het |
| Or5an10 |
T |
A |
19: 12,276,242 (GRCm39) |
M85L |
probably damaging |
Het |
| Or5b99 |
T |
A |
19: 12,976,431 (GRCm39) |
I27N |
possibly damaging |
Het |
| Or5m5 |
T |
A |
2: 85,814,407 (GRCm39) |
C74* |
probably null |
Het |
| Or8k30 |
T |
A |
2: 86,339,397 (GRCm39) |
I198K |
possibly damaging |
Het |
| Pcdhga12 |
T |
C |
18: 37,901,478 (GRCm39) |
F770S |
possibly damaging |
Het |
| Pfkp |
T |
A |
13: 6,655,119 (GRCm39) |
|
probably null |
Het |
| Prr29 |
C |
G |
11: 106,267,158 (GRCm39) |
H58D |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,001,219 (GRCm39) |
M1103K |
probably benign |
Het |
| Rigi |
T |
C |
4: 40,225,651 (GRCm39) |
E250G |
probably damaging |
Het |
| Rsph4a |
C |
T |
10: 33,781,473 (GRCm39) |
P108S |
probably benign |
Het |
| Setd1b |
A |
C |
5: 123,290,657 (GRCm39) |
M875L |
unknown |
Het |
| Slc15a2 |
A |
G |
16: 36,576,673 (GRCm39) |
S485P |
probably benign |
Het |
| Smoc1 |
A |
G |
12: 81,226,444 (GRCm39) |
D423G |
probably damaging |
Het |
| Spast |
T |
A |
17: 74,676,198 (GRCm39) |
V337D |
probably damaging |
Het |
| Spesp1 |
T |
C |
9: 62,179,987 (GRCm39) |
K307R |
possibly damaging |
Het |
| Sulf1 |
A |
G |
1: 12,906,467 (GRCm39) |
E503G |
probably benign |
Het |
| Susd6 |
T |
C |
12: 80,921,341 (GRCm39) |
Y313H |
probably damaging |
Het |
| Them4 |
A |
T |
3: 94,238,865 (GRCm39) |
D224V |
possibly damaging |
Het |
| Tpsg1 |
G |
T |
17: 25,592,184 (GRCm39) |
G86V |
probably damaging |
Het |
| Tspear |
A |
T |
10: 77,717,049 (GRCm39) |
T575S |
probably benign |
Het |
| Usp21 |
A |
T |
1: 171,113,142 (GRCm39) |
H211Q |
probably benign |
Het |
| Vmn1r189 |
T |
C |
13: 22,286,322 (GRCm39) |
S172G |
probably benign |
Het |
| Vmn2r114 |
T |
C |
17: 23,515,944 (GRCm39) |
S516G |
probably damaging |
Het |
| Vmn2r28 |
T |
A |
7: 5,484,255 (GRCm39) |
R648S |
probably benign |
Het |
| Vmn2r6 |
C |
A |
3: 64,472,563 (GRCm39) |
V53F |
probably damaging |
Het |
| Vmn2r76 |
A |
G |
7: 85,879,388 (GRCm39) |
I304T |
probably benign |
Het |
| Vmn2r88 |
A |
C |
14: 51,651,454 (GRCm39) |
Y256S |
|
Het |
| Zfhx4 |
A |
T |
3: 5,468,831 (GRCm39) |
K3021N |
probably damaging |
Het |
| Zfp647 |
T |
C |
15: 76,795,988 (GRCm39) |
H224R |
probably damaging |
Het |
| Zfp865 |
A |
G |
7: 5,034,130 (GRCm39) |
E705G |
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 |
|
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'- AGGAGTCCAGAGATCCGTTC -3'
(R):5'- CACTCTCCCAAAGATGGCTG -3'
Sequencing Primer
(F):5'- GAGATCCGTTCTCCATGAATTCAGTG -3'
(R):5'- AAAGATGGCTGGCCCTGCTC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation