Incidental Mutation 'R5749:Efnb2'
| ID |
445922 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efnb2
|
| Ensembl Gene |
ENSMUSG00000001300 |
| Gene Name |
ephrin B2 |
| Synonyms |
Eplg5, Epl5, Lerk5, Htk-L, NLERK-1, LERK-5, ELF-2 |
| MMRRC Submission |
043200-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5749 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
8667434-8711242 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 8689347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 92
(C92G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001319]
|
| AlphaFold |
P52800 |
| PDB Structure |
CRYSTAL STRUCTURE OF THE MURINE EPHRIN-B2 ECTODOMAIN [X-RAY DIFFRACTION]
Crystal Structure of the EphB2-ephrinB2 complex [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001319
AA Change: C92G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001319
Gene: ENSMUSG00000001300
AA Change: C92G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ephrin
|
32 |
167 |
4.6e-53 |
PFAM |
|
transmembrane domain
|
231 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
277 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000152698
AA Change: C6G
|
| SMART Domains |
Protein: ENSMUSP00000116027
Gene: ENSMUSG00000001300
AA Change: C6G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ephrin
|
1 |
68 |
1.3e-19 |
PFAM |
|
transmembrane domain
|
115 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
161 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207688
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208097
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209091
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNB class ephrin which binds to the EPHB4 and EPHA3 receptors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defects in angiogenesis of both arteries and veins and die by embryonic day 11.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
G |
A |
11: 54,214,881 (GRCm39) |
|
probably null |
Het |
| Ankrd12 |
T |
C |
17: 66,293,091 (GRCm39) |
S781G |
probably benign |
Het |
| Bicc1 |
A |
G |
10: 70,782,799 (GRCm39) |
S523P |
probably benign |
Het |
| Ccdc163 |
T |
A |
4: 116,571,309 (GRCm39) |
C44* |
probably null |
Het |
| Ccdc83 |
T |
C |
7: 89,873,156 (GRCm39) |
T400A |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,216,965 (GRCm39) |
S426P |
possibly damaging |
Het |
| Cyp2b19 |
T |
C |
7: 26,462,844 (GRCm39) |
I242T |
possibly damaging |
Het |
| Fam90a1a |
T |
A |
8: 22,453,057 (GRCm39) |
S137R |
possibly damaging |
Het |
| Fbxo17 |
G |
A |
7: 28,436,897 (GRCm39) |
R284H |
probably damaging |
Het |
| Fem1b |
A |
G |
9: 62,704,288 (GRCm39) |
L324P |
probably damaging |
Het |
| Fsd1 |
T |
A |
17: 56,302,849 (GRCm39) |
|
probably null |
Het |
| Gtpbp4 |
A |
G |
13: 9,045,983 (GRCm39) |
|
probably null |
Het |
| Ifi209 |
A |
C |
1: 173,464,893 (GRCm39) |
I8L |
probably damaging |
Het |
| Itga8 |
T |
C |
2: 12,266,889 (GRCm39) |
E182G |
probably damaging |
Het |
| Itsn1 |
T |
A |
16: 91,703,743 (GRCm39) |
L87H |
probably damaging |
Het |
| Klk1b16 |
T |
C |
7: 43,790,210 (GRCm39) |
I160T |
probably benign |
Het |
| Lbp |
T |
A |
2: 158,161,673 (GRCm39) |
V52D |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,764,347 (GRCm39) |
V318A |
possibly damaging |
Het |
| Myo16 |
C |
T |
8: 10,463,245 (GRCm39) |
S604L |
probably benign |
Het |
| Or10ag52 |
C |
T |
2: 87,043,287 (GRCm39) |
T17I |
probably benign |
Het |
| Or10g1 |
T |
A |
14: 52,647,961 (GRCm39) |
M123L |
probably damaging |
Het |
| Or5b12 |
A |
G |
19: 12,897,589 (GRCm39) |
V28A |
probably benign |
Het |
| Or6c38 |
A |
T |
10: 128,928,966 (GRCm39) |
N292K |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,007,525 (GRCm39) |
D346G |
probably damaging |
Het |
| Ppara |
A |
T |
15: 85,673,229 (GRCm39) |
D140V |
probably benign |
Het |
| Prlr |
T |
A |
15: 10,328,804 (GRCm39) |
D426E |
probably benign |
Het |
| Prss36 |
T |
A |
7: 127,532,814 (GRCm39) |
I192F |
probably damaging |
Het |
| Psg25 |
T |
C |
7: 18,258,776 (GRCm39) |
E300G |
probably damaging |
Het |
| Pxylp1 |
A |
G |
9: 96,738,424 (GRCm39) |
F26L |
possibly damaging |
Het |
| Rapgef4 |
A |
T |
2: 72,073,101 (GRCm39) |
T796S |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,534,267 (GRCm39) |
H3508R |
probably damaging |
Het |
| Tep1 |
T |
A |
14: 51,081,529 (GRCm39) |
D1282V |
possibly damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,299,310 (GRCm39) |
E59G |
probably damaging |
Het |
| Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
| Tns3 |
A |
T |
11: 8,401,177 (GRCm39) |
H1040Q |
probably benign |
Het |
| Usp10 |
G |
A |
8: 120,667,872 (GRCm39) |
E58K |
probably damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,710,232 (GRCm39) |
T512A |
probably benign |
Het |
| Vmn2r52 |
C |
T |
7: 9,892,959 (GRCm39) |
D727N |
probably damaging |
Het |
| Vmn2r66 |
T |
A |
7: 84,655,979 (GRCm39) |
K346* |
probably null |
Het |
| Vmn2r93 |
T |
A |
17: 18,518,546 (GRCm39) |
F2I |
probably benign |
Het |
| Zfp697 |
T |
C |
3: 98,332,780 (GRCm39) |
S69P |
probably benign |
Het |
| Zftraf1 |
A |
C |
15: 76,542,844 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Efnb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Efnb2
|
APN |
8 |
8,710,589 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02076:Efnb2
|
APN |
8 |
8,710,488 (GRCm39) |
missense |
probably benign |
|
|
IGL03333:Efnb2
|
APN |
8 |
8,689,275 (GRCm39) |
nonsense |
probably null |
|
|
IGL03098:Efnb2
|
UTSW |
8 |
8,713,420 (GRCm39) |
unclassified |
probably benign |
|
|
R1416:Efnb2
|
UTSW |
8 |
8,672,329 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1760:Efnb2
|
UTSW |
8 |
8,673,184 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1783:Efnb2
|
UTSW |
8 |
8,673,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4272:Efnb2
|
UTSW |
8 |
8,670,698 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4398:Efnb2
|
UTSW |
8 |
8,670,832 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4782:Efnb2
|
UTSW |
8 |
8,673,104 (GRCm39) |
splice site |
probably null |
|
|
R4799:Efnb2
|
UTSW |
8 |
8,673,104 (GRCm39) |
splice site |
probably null |
|
|
R5193:Efnb2
|
UTSW |
8 |
8,673,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5443:Efnb2
|
UTSW |
8 |
8,670,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6083:Efnb2
|
UTSW |
8 |
8,672,328 (GRCm39) |
splice site |
probably null |
|
|
R6266:Efnb2
|
UTSW |
8 |
8,710,524 (GRCm39) |
missense |
probably benign |
|
|
R6482:Efnb2
|
UTSW |
8 |
8,670,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7371:Efnb2
|
UTSW |
8 |
8,710,524 (GRCm39) |
missense |
probably benign |
|
|
R8813:Efnb2
|
UTSW |
8 |
8,670,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9630:Efnb2
|
UTSW |
8 |
8,670,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Efnb2
|
UTSW |
8 |
8,673,147 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACCGTGGTAATTTAAGGGAAACAG -3'
(R):5'- TAACCCCGGGCTCTTTGATG -3'
Sequencing Primer
(F):5'- GTGGTAATTTAAGGGAAACAGAAATG -3'
(R):5'- ATGTTCACTTTTATCAACTCAGTGGC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation