Incidental Mutation 'R6720:Ephb2'
| ID |
529531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ephb2
|
| Ensembl Gene |
ENSMUSG00000028664 |
| Gene Name |
Eph receptor B2 |
| Synonyms |
Erk, eteck, Tyro5, Prkm5, Drt, Hek5, Sek3, Qek5, Cek5, Nuk |
| MMRRC Submission |
044838-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.701)
|
| Stock # |
R6720 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
136647539-136835988 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 136657502 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 866
(D866G)
|
| 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: D867G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000058135
Gene: ENSMUSG00000028664
AA Change: D867G
| 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: D866G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101471
Gene: ENSMUSG00000028664
AA Change: D866G
| 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 damaging
Transcript: ENSMUST00000105846
AA Change: D867G
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101472
Gene: ENSMUSG00000028664
AA Change: D867G
| 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 |
noncoding transcript
Transcript: ENSMUST00000151502
|
| 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 |
0.5784 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.6%
|
| Validation Efficiency |
98% (50/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
G |
A |
4: 137,454,686 (GRCm38) |
E51K |
possibly damaging |
Het |
| Abca1 |
A |
C |
4: 53,083,733 (GRCm38) |
L700R |
probably damaging |
Het |
| Arpc1a |
C |
A |
5: 145,101,222 (GRCm38) |
|
probably null |
Het |
| Baz2b |
G |
T |
2: 59,924,890 (GRCm38) |
P241Q |
probably damaging |
Het |
| Cd6 |
T |
A |
19: 10,794,609 (GRCm38) |
T414S |
probably benign |
Het |
| Ces2b |
A |
T |
8: 104,836,869 (GRCm38) |
E409D |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,821,119 (GRCm38) |
Y3024H |
probably benign |
Het |
| Chrm1 |
A |
G |
19: 8,678,548 (GRCm38) |
T206A |
probably benign |
Het |
| Clptm1l |
T |
C |
13: 73,618,516 (GRCm38) |
W512R |
probably damaging |
Het |
| Col15a1 |
T |
A |
4: 47,247,552 (GRCm38) |
|
probably null |
Het |
| Cox15 |
A |
G |
19: 43,736,789 (GRCm38) |
S392P |
probably damaging |
Het |
| Cr2 |
T |
C |
1: 195,155,200 (GRCm38) |
M1197V |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,000,689 (GRCm38) |
K1281E |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,045,646 (GRCm38) |
F2094L |
probably damaging |
Het |
| Ear2 |
T |
A |
14: 44,102,959 (GRCm38) |
C25S |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,140,264 (GRCm38) |
D802G |
probably damaging |
Het |
| Eftud2 |
G |
A |
11: 102,838,623 (GRCm38) |
Q84* |
probably null |
Het |
| Eif4g3 |
T |
A |
4: 138,175,832 (GRCm38) |
|
probably null |
Het |
| Fam129b |
T |
A |
2: 32,905,826 (GRCm38) |
V22D |
probably damaging |
Het |
| Farsb |
A |
G |
1: 78,472,497 (GRCm38) |
M99T |
probably damaging |
Het |
| Foxs1 |
T |
A |
2: 152,932,720 (GRCm38) |
S138C |
probably damaging |
Het |
| Frem1 |
T |
G |
4: 83,013,832 (GRCm38) |
S211R |
probably damaging |
Het |
| Gm19410 |
G |
A |
8: 35,807,576 (GRCm38) |
R1517Q |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,802,304 (GRCm38) |
I27M |
probably benign |
Het |
| H2-Q7 |
A |
G |
17: 35,442,678 (GRCm38) |
E299G |
probably benign |
Het |
| Hao2 |
T |
G |
3: 98,877,135 (GRCm38) |
I305L |
probably benign |
Het |
| Hectd4 |
C |
T |
5: 121,307,381 (GRCm38) |
Q122* |
probably null |
Het |
| Hivep1 |
T |
A |
13: 42,164,284 (GRCm38) |
C2079S |
probably damaging |
Het |
| Hoxb1 |
C |
A |
11: 96,366,987 (GRCm38) |
Q248K |
probably damaging |
Het |
| Hspb6 |
A |
G |
7: 30,554,347 (GRCm38) |
D95G |
probably benign |
Het |
| Ighv5-2 |
T |
A |
12: 113,578,506 (GRCm38) |
R117S |
probably damaging |
Het |
| Ino80d |
A |
C |
1: 63,058,610 (GRCm38) |
S708R |
probably damaging |
Het |
| Lman1l |
A |
G |
9: 57,614,072 (GRCm38) |
|
probably null |
Het |
| Mmp15 |
A |
G |
8: 95,365,314 (GRCm38) |
N51D |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,423,077 (GRCm38) |
M1140V |
probably benign |
Het |
| Olfr1053 |
A |
G |
2: 86,315,065 (GRCm38) |
S74P |
probably damaging |
Het |
| Olfr1373 |
A |
G |
11: 52,144,693 (GRCm38) |
V279A |
probably benign |
Het |
| Olfr397 |
A |
G |
11: 73,965,465 (GRCm38) |
N286D |
probably damaging |
Het |
| Olfr890 |
T |
A |
9: 38,143,153 (GRCm38) |
M1K |
probably null |
Het |
| Pard3b |
A |
T |
1: 62,159,470 (GRCm38) |
N239I |
probably damaging |
Het |
| Parvb |
C |
T |
15: 84,297,979 (GRCm38) |
R237W |
probably damaging |
Het |
| Pcdha9 |
T |
C |
18: 36,998,069 (GRCm38) |
S64P |
probably damaging |
Het |
| Pdcd1 |
T |
C |
1: 94,041,389 (GRCm38) |
N68S |
probably benign |
Het |
| Pi4ka |
G |
T |
16: 17,326,052 (GRCm38) |
|
probably null |
Het |
| Plekha4 |
A |
T |
7: 45,540,886 (GRCm38) |
D359V |
possibly damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,994,062 (GRCm38) |
I78V |
probably benign |
Het |
| Slc39a7 |
T |
A |
17: 34,030,108 (GRCm38) |
T269S |
probably benign |
Het |
| Sltm |
T |
G |
9: 70,573,710 (GRCm38) |
D281E |
probably damaging |
Het |
| Zfp708 |
T |
C |
13: 67,071,432 (GRCm38) |
Y76C |
probably damaging |
Het |
| Zfp990 |
T |
A |
4: 145,536,927 (GRCm38) |
V165D |
possibly damaging |
Het |
|
| Other mutations in Ephb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Ephb2
|
APN |
4 |
136,657,484 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL00963:Ephb2
|
APN |
4 |
136,658,951 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL01111:Ephb2
|
APN |
4 |
136,657,410 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01462:Ephb2
|
APN |
4 |
136,771,370 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
IGL01863:Ephb2
|
APN |
4 |
136,659,777 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02149:Ephb2
|
APN |
4 |
136,693,914 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02232:Ephb2
|
APN |
4 |
136,657,451 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02269:Ephb2
|
APN |
4 |
136,771,049 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL02828:Ephb2
|
APN |
4 |
136,771,150 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL03109:Ephb2
|
APN |
4 |
136,771,544 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03284:Ephb2
|
APN |
4 |
136,661,516 (GRCm38) |
missense |
probably damaging |
0.96 |
|
Zimbalist
|
UTSW |
4 |
136,659,709 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB006:Ephb2
|
UTSW |
4 |
136,660,884 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB016:Ephb2
|
UTSW |
4 |
136,660,884 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4453001:Ephb2
|
UTSW |
4 |
136,660,810 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0004:Ephb2
|
UTSW |
4 |
136,657,524 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0121:Ephb2
|
UTSW |
4 |
136,771,057 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0539:Ephb2
|
UTSW |
4 |
136,655,976 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0614:Ephb2
|
UTSW |
4 |
136,673,365 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0988:Ephb2
|
UTSW |
4 |
136,659,708 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R1471:Ephb2
|
UTSW |
4 |
136,658,951 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1473:Ephb2
|
UTSW |
4 |
136,694,058 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R1546:Ephb2
|
UTSW |
4 |
136,771,009 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1639:Ephb2
|
UTSW |
4 |
136,693,905 (GRCm38) |
missense |
probably benign |
0.10 |
|
R1725:Ephb2
|
UTSW |
4 |
136,659,778 (GRCm38) |
nonsense |
probably null |
|
|
R1779:Ephb2
|
UTSW |
4 |
136,693,825 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R1818:Ephb2
|
UTSW |
4 |
136,655,336 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2099:Ephb2
|
UTSW |
4 |
136,660,755 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2916:Ephb2
|
UTSW |
4 |
136,683,945 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3885:Ephb2
|
UTSW |
4 |
136,771,034 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4572:Ephb2
|
UTSW |
4 |
136,655,940 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4709:Ephb2
|
UTSW |
4 |
136,696,052 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4893:Ephb2
|
UTSW |
4 |
136,659,753 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4981:Ephb2
|
UTSW |
4 |
136,696,010 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4992:Ephb2
|
UTSW |
4 |
136,660,839 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5004:Ephb2
|
UTSW |
4 |
136,659,699 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R5307:Ephb2
|
UTSW |
4 |
136,693,787 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5370:Ephb2
|
UTSW |
4 |
136,771,570 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5561:Ephb2
|
UTSW |
4 |
136,661,406 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5643:Ephb2
|
UTSW |
4 |
136,771,612 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5826:Ephb2
|
UTSW |
4 |
136,660,737 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5858:Ephb2
|
UTSW |
4 |
136,672,445 (GRCm38) |
missense |
probably benign |
|
|
R5867:Ephb2
|
UTSW |
4 |
136,675,422 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R5990:Ephb2
|
UTSW |
4 |
136,696,055 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6000:Ephb2
|
UTSW |
4 |
136,684,030 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R6156:Ephb2
|
UTSW |
4 |
136,661,505 (GRCm38) |
missense |
probably benign |
0.44 |
|
R6413:Ephb2
|
UTSW |
4 |
136,771,122 (GRCm38) |
missense |
probably benign |
0.08 |
|
R6577:Ephb2
|
UTSW |
4 |
136,657,550 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6633:Ephb2
|
UTSW |
4 |
136,683,996 (GRCm38) |
missense |
probably benign |
0.07 |
|
R6795:Ephb2
|
UTSW |
4 |
136,673,335 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R7235:Ephb2
|
UTSW |
4 |
136,693,828 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7260:Ephb2
|
UTSW |
4 |
136,771,574 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7328:Ephb2
|
UTSW |
4 |
136,658,934 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7404:Ephb2
|
UTSW |
4 |
136,771,213 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7466:Ephb2
|
UTSW |
4 |
136,659,065 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7524:Ephb2
|
UTSW |
4 |
136,659,709 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7605:Ephb2
|
UTSW |
4 |
136,771,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7611:Ephb2
|
UTSW |
4 |
136,660,901 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R7777:Ephb2
|
UTSW |
4 |
136,771,636 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7889:Ephb2
|
UTSW |
4 |
136,771,042 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7929:Ephb2
|
UTSW |
4 |
136,660,884 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8191:Ephb2
|
UTSW |
4 |
136,658,945 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8370:Ephb2
|
UTSW |
4 |
136,655,991 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8444:Ephb2
|
UTSW |
4 |
136,661,400 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8724:Ephb2
|
UTSW |
4 |
136,771,057 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8988:Ephb2
|
UTSW |
4 |
136,675,458 (GRCm38) |
missense |
probably benign |
0.42 |
|
R9410:Ephb2
|
UTSW |
4 |
136,659,637 (GRCm38) |
missense |
probably null |
1.00 |
|
R9722:Ephb2
|
UTSW |
4 |
136,657,457 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCATCCCAGACTGCCATTG -3'
(R):5'- CTCCAGAGATGAATATGCTCAGCAG -3'
Sequencing Primer
(F):5'- TCCAGGATGGCACCCAGAG -3'
(R):5'- AACGCCATTGAACAGGAC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation