Incidental Mutation 'R7260:Ephb2'
ID |
564522 |
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 |
045352-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.760)
|
Stock # |
R7260 (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 136498885 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 65
(F65L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101471
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059287]
[ENSMUST00000105845]
[ENSMUST00000105846]
|
AlphaFold |
P54763 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059287
AA Change: F65L
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000058135 Gene: ENSMUSG00000028664 AA Change: F65L
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: F65L
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000101471 Gene: ENSMUSG00000028664 AA Change: F65L
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: F65L
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000101472 Gene: ENSMUSG00000028664 AA Change: F65L
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (78/80) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057J18Rik |
A |
G |
10: 28,849,882 (GRCm39) |
S293P |
probably benign |
Het |
Actn2 |
T |
C |
13: 12,291,376 (GRCm39) |
N676S |
probably benign |
Het |
Amfr |
C |
T |
8: 94,702,776 (GRCm39) |
M463I |
possibly damaging |
Het |
Ankdd1a |
G |
T |
9: 65,411,834 (GRCm39) |
A325D |
probably damaging |
Het |
Apba2 |
A |
G |
7: 64,389,493 (GRCm39) |
D463G |
probably damaging |
Het |
Arid5b |
A |
G |
10: 67,933,637 (GRCm39) |
V755A |
probably damaging |
Het |
Boc |
A |
T |
16: 44,310,533 (GRCm39) |
F796I |
|
Het |
Ccnt1 |
G |
A |
15: 98,463,005 (GRCm39) |
Q56* |
probably null |
Het |
Cd248 |
T |
A |
19: 5,119,383 (GRCm39) |
Y410* |
probably null |
Het |
Chd9 |
T |
A |
8: 91,721,171 (GRCm39) |
N986K |
unknown |
Het |
Col6a6 |
T |
C |
9: 105,661,168 (GRCm39) |
T314A |
probably benign |
Het |
Cpped1 |
A |
G |
16: 11,646,327 (GRCm39) |
F142L |
possibly damaging |
Het |
Csmd1 |
C |
T |
8: 16,050,574 (GRCm39) |
A2221T |
probably damaging |
Het |
Cyp2c69 |
C |
A |
19: 39,831,344 (GRCm39) |
V490L |
probably benign |
Het |
Cyrib |
A |
T |
15: 63,829,438 (GRCm39) |
F23L |
possibly damaging |
Het |
Dcst2 |
T |
C |
3: 89,273,593 (GRCm39) |
F157S |
probably damaging |
Het |
Ddx54 |
G |
T |
5: 120,764,985 (GRCm39) |
R788L |
probably benign |
Het |
Dnah1 |
T |
C |
14: 30,991,343 (GRCm39) |
Y3145C |
probably damaging |
Het |
Dnah14 |
A |
T |
1: 181,534,309 (GRCm39) |
R2320W |
probably damaging |
Het |
Dnai3 |
T |
A |
3: 145,752,295 (GRCm39) |
M794L |
probably benign |
Het |
Emilin2 |
T |
C |
17: 71,581,785 (GRCm39) |
T314A |
probably benign |
Het |
Eml2 |
A |
G |
7: 18,934,515 (GRCm39) |
S405G |
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,199,188 (GRCm39) |
D1360G |
probably benign |
Het |
Fbxo22 |
A |
G |
9: 55,125,754 (GRCm39) |
T206A |
probably benign |
Het |
Filip1l |
A |
G |
16: 57,391,287 (GRCm39) |
E625G |
probably damaging |
Het |
Gen1 |
A |
C |
12: 11,306,849 (GRCm39) |
M172R |
probably damaging |
Het |
Gk5 |
A |
G |
9: 96,001,663 (GRCm39) |
K54E |
probably benign |
Het |
Glis3 |
T |
C |
19: 28,508,802 (GRCm39) |
E394G |
probably benign |
Het |
Helq |
T |
A |
5: 100,939,793 (GRCm39) |
E373D |
probably damaging |
Het |
Ighv1-74 |
A |
G |
12: 115,766,372 (GRCm39) |
F83L |
probably benign |
Het |
Ints15 |
A |
G |
5: 143,297,594 (GRCm39) |
V151A |
probably benign |
Het |
Iqcn |
T |
C |
8: 71,161,397 (GRCm39) |
Y197H |
probably benign |
Het |
Kdm4d |
T |
C |
9: 14,374,454 (GRCm39) |
D468G |
probably benign |
Het |
Kif20b |
A |
G |
19: 34,927,610 (GRCm39) |
I957M |
probably damaging |
Het |
Ldhal6b |
A |
G |
17: 5,468,535 (GRCm39) |
F133S |
possibly damaging |
Het |
Loxhd1 |
T |
C |
18: 77,420,338 (GRCm39) |
Y321H |
possibly damaging |
Het |
Ltbp1 |
A |
T |
17: 75,373,139 (GRCm39) |
M261L |
probably benign |
Het |
Mical2 |
A |
T |
7: 111,919,001 (GRCm39) |
Q430L |
probably benign |
Het |
Mroh4 |
A |
T |
15: 74,479,978 (GRCm39) |
N885K |
possibly damaging |
Het |
Ms4a7 |
A |
G |
19: 11,299,710 (GRCm39) |
Y231H |
probably damaging |
Het |
Msh2 |
G |
T |
17: 88,025,047 (GRCm39) |
V642F |
probably damaging |
Het |
Muc5b |
G |
T |
7: 141,396,385 (GRCm39) |
A166S |
unknown |
Het |
Myo18b |
T |
C |
5: 112,923,154 (GRCm39) |
I1868V |
probably benign |
Het |
Nfatc3 |
T |
C |
8: 106,835,578 (GRCm39) |
S975P |
probably benign |
Het |
Oacyl |
T |
C |
18: 65,831,438 (GRCm39) |
L25P |
probably damaging |
Het |
Or12e10 |
A |
G |
2: 87,640,731 (GRCm39) |
N189S |
probably damaging |
Het |
Or5b109 |
T |
C |
19: 13,212,388 (GRCm39) |
F258S |
probably damaging |
Het |
Or5w15 |
T |
C |
2: 87,568,852 (GRCm39) |
|
probably null |
Het |
Or6c69 |
T |
A |
10: 129,748,156 (GRCm39) |
|
probably benign |
Het |
Or8a1 |
T |
A |
9: 37,642,049 (GRCm39) |
I77F |
probably damaging |
Het |
Patj |
A |
G |
4: 98,304,970 (GRCm39) |
I275V |
possibly damaging |
Het |
Pdcd11 |
G |
A |
19: 47,117,673 (GRCm39) |
R1674Q |
possibly damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Phkb |
T |
A |
8: 86,604,759 (GRCm39) |
Y55N |
probably benign |
Het |
Pias4 |
A |
G |
10: 80,993,302 (GRCm39) |
V207A |
possibly damaging |
Het |
Plxna4 |
C |
A |
6: 32,216,455 (GRCm39) |
R540L |
possibly damaging |
Het |
Psapl1 |
G |
A |
5: 36,362,556 (GRCm39) |
V383M |
probably benign |
Het |
Rars1 |
C |
A |
11: 35,725,281 (GRCm39) |
A10S |
probably benign |
Het |
Rhobtb1 |
A |
T |
10: 69,106,610 (GRCm39) |
K454* |
probably null |
Het |
Rmnd1 |
A |
T |
10: 4,364,803 (GRCm39) |
|
probably null |
Het |
Rnf213 |
A |
G |
11: 119,343,401 (GRCm39) |
I3589V |
|
Het |
Rngtt |
T |
C |
4: 33,356,176 (GRCm39) |
S338P |
possibly damaging |
Het |
Sh3bgr |
A |
G |
16: 96,025,681 (GRCm39) |
E189G |
unknown |
Het |
Slc30a3 |
G |
A |
5: 31,245,690 (GRCm39) |
T281I |
probably damaging |
Het |
Smok3c |
T |
A |
5: 138,063,885 (GRCm39) |
D457E |
possibly damaging |
Het |
Stard9 |
C |
A |
2: 120,537,419 (GRCm39) |
Q4274K |
possibly damaging |
Het |
Syne2 |
G |
T |
12: 75,991,853 (GRCm39) |
L1938F |
probably damaging |
Het |
Tmem70 |
C |
A |
1: 16,735,590 (GRCm39) |
T20K |
possibly damaging |
Het |
Tnrc6a |
A |
G |
7: 122,785,813 (GRCm39) |
E1502G |
probably benign |
Het |
Tpp1 |
A |
T |
7: 105,396,704 (GRCm39) |
S438T |
probably benign |
Het |
Tubb2a |
T |
A |
13: 34,259,397 (GRCm39) |
Q131L |
probably damaging |
Het |
Ube2v1 |
A |
G |
2: 167,471,114 (GRCm39) |
S26P |
probably benign |
Het |
Unc13a |
G |
T |
8: 72,113,229 (GRCm39) |
S207R |
possibly damaging |
Het |
Usp35 |
T |
G |
7: 96,969,286 (GRCm39) |
D362A |
probably damaging |
Het |
Utp20 |
A |
G |
10: 88,587,334 (GRCm39) |
I2487T |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r117 |
T |
A |
17: 23,694,359 (GRCm39) |
H496L |
probably benign |
Het |
Vmn2r92 |
C |
T |
17: 18,387,138 (GRCm39) |
A159V |
probably damaging |
Het |
Wiz |
T |
C |
17: 32,578,085 (GRCm39) |
K467E |
probably damaging |
Het |
Zfp534 |
T |
C |
4: 147,759,461 (GRCm39) |
T403A |
probably benign |
Het |
Zswim5 |
T |
C |
4: 116,819,843 (GRCm39) |
L416P |
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 |
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'- GTGGCTAAGTCAAAATCAGCCTC -3'
(R):5'- GCGCCTTGTAACCATCAGAC -3'
Sequencing Primer
(F):5'- ATCAGCCTCATAGTAGTAGAGGTTG -3'
(R):5'- AAGACTGTGTCTCCTCCATCAGATAG -3'
|
Posted On |
2019-06-26 |