Incidental Mutation 'R7929:Ephb2'
| ID |
643465 |
| 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 |
045976-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.760)
|
| Stock # |
R7929 (G1)
|
| Quality Score |
999 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
136374850-136563299 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 136388195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 635
(V635A)
|
| 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: V636A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000058135
Gene: ENSMUSG00000028664
AA Change: V636A
| 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: V635A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101471
Gene: ENSMUSG00000028664
AA Change: V635A
| 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: V636A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101472
Gene: ENSMUSG00000028664
AA Change: V636A
| 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 |
|
| Meta Mutation Damage Score |
0.9323 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
| Validation Efficiency |
95% (59/62) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410137M14Rik |
T |
A |
17: 37,289,412 (GRCm39) |
I105F |
possibly damaging |
Het |
| Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
| Adra1d |
G |
T |
2: 131,403,600 (GRCm39) |
C163* |
probably null |
Het |
| Ak9 |
A |
G |
10: 41,259,944 (GRCm39) |
D874G |
|
Het |
| Akap8 |
A |
T |
17: 32,528,419 (GRCm39) |
S498T |
probably damaging |
Het |
| Alyref2 |
C |
G |
1: 171,331,407 (GRCm39) |
F61L |
probably benign |
Het |
| Ank1 |
A |
T |
8: 23,606,123 (GRCm39) |
I1172F |
probably damaging |
Het |
| Ankrd50 |
A |
T |
3: 38,511,258 (GRCm39) |
F370I |
probably damaging |
Het |
| Apip |
A |
C |
2: 102,913,366 (GRCm39) |
T41P |
probably benign |
Het |
| Atg4d |
G |
A |
9: 21,178,260 (GRCm39) |
R126Q |
probably null |
Het |
| Ccdc86 |
A |
G |
19: 10,926,183 (GRCm39) |
S139P |
unknown |
Het |
| Ceacam16 |
A |
G |
7: 19,587,556 (GRCm39) |
L404P |
probably damaging |
Het |
| Dennd3 |
G |
T |
15: 73,436,423 (GRCm39) |
V1010L |
probably damaging |
Het |
| Disp1 |
A |
G |
1: 182,917,103 (GRCm39) |
S108P |
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,869,554 (GRCm39) |
C238R |
probably damaging |
Het |
| Fkbp3 |
A |
G |
12: 65,116,812 (GRCm39) |
|
probably benign |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gars1 |
A |
G |
6: 55,040,102 (GRCm39) |
H343R |
probably damaging |
Het |
| Gli2 |
A |
T |
1: 118,769,772 (GRCm39) |
N593K |
possibly damaging |
Het |
| Il18rap |
T |
A |
1: 40,570,740 (GRCm39) |
N227K |
probably damaging |
Het |
| Il4ra |
T |
C |
7: 125,174,348 (GRCm39) |
S297P |
probably benign |
Het |
| Itprid1 |
G |
A |
6: 55,874,946 (GRCm39) |
V299M |
probably damaging |
Het |
| Jak1 |
A |
T |
4: 101,011,842 (GRCm39) |
F1087I |
probably damaging |
Het |
| Klf16 |
A |
G |
10: 80,412,698 (GRCm39) |
S113P |
probably benign |
Het |
| Klhl30 |
A |
T |
1: 91,283,238 (GRCm39) |
E280V |
possibly damaging |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Lama4 |
A |
G |
10: 38,954,843 (GRCm39) |
H1132R |
probably damaging |
Het |
| Lmtk3 |
A |
G |
7: 45,444,572 (GRCm39) |
D1085G |
unknown |
Het |
| Lrrc9 |
C |
A |
12: 72,533,071 (GRCm39) |
T980K |
possibly damaging |
Het |
| Nceh1 |
A |
G |
3: 27,333,396 (GRCm39) |
D164G |
probably benign |
Het |
| Nlrp2 |
A |
G |
7: 5,330,498 (GRCm39) |
S633P |
probably damaging |
Het |
| Nxn |
A |
G |
11: 76,164,863 (GRCm39) |
V216A |
possibly damaging |
Het |
| Odf4 |
A |
T |
11: 68,813,759 (GRCm39) |
V143D |
possibly damaging |
Het |
| Or4d6 |
G |
A |
19: 12,086,118 (GRCm39) |
T38I |
unknown |
Het |
| Or4p4b-ps1 |
T |
C |
2: 88,454,219 (GRCm39) |
Y191H |
unknown |
Het |
| Pex12 |
A |
G |
11: 83,188,809 (GRCm39) |
I62T |
probably damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Plekhg1 |
G |
A |
10: 3,869,170 (GRCm39) |
D237N |
probably damaging |
Het |
| Rxrb |
T |
A |
17: 34,255,645 (GRCm39) |
D377E |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,609,680 (GRCm39) |
D4382V |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,705,181 (GRCm39) |
K2862* |
probably null |
Het |
| Ryr3 |
A |
G |
2: 112,664,533 (GRCm39) |
L1606P |
probably benign |
Het |
| Samd3 |
A |
G |
10: 26,127,813 (GRCm39) |
K270R |
probably damaging |
Het |
| Slc2a5 |
C |
A |
4: 150,223,942 (GRCm39) |
F211L |
probably benign |
Het |
| Spata31 |
T |
A |
13: 65,069,532 (GRCm39) |
V560D |
probably benign |
Het |
| Sri |
T |
G |
5: 8,107,652 (GRCm39) |
|
probably benign |
Het |
| Tbk1 |
A |
G |
10: 121,393,138 (GRCm39) |
C471R |
probably benign |
Het |
| Tbx20 |
A |
T |
9: 24,637,059 (GRCm39) |
S343T |
possibly damaging |
Het |
| Tesk2 |
A |
G |
4: 116,659,452 (GRCm39) |
E304G |
probably benign |
Het |
| Tle1 |
A |
G |
4: 72,118,239 (GRCm39) |
F2L |
possibly damaging |
Het |
| Tle4 |
G |
T |
19: 14,495,244 (GRCm39) |
P162T |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,673,816 (GRCm39) |
P11172S |
unknown |
Het |
| Tulp1 |
T |
C |
17: 28,572,746 (GRCm39) |
N470S |
possibly damaging |
Het |
| Unc13b |
A |
G |
4: 43,174,399 (GRCm39) |
I1742M |
unknown |
Het |
| Vmn2r107 |
T |
G |
17: 20,565,706 (GRCm39) |
I7S |
probably null |
Het |
| Vmn2r91 |
T |
G |
17: 18,327,906 (GRCm39) |
I500R |
probably damaging |
Het |
| Xpnpep3 |
A |
G |
15: 81,311,626 (GRCm39) |
I111V |
probably damaging |
Het |
| Zp3r |
T |
A |
1: 130,519,217 (GRCm39) |
E308V |
probably benign |
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 |
|
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'- ACTCTCCCAAAGATGGCTGG -3'
Sequencing Primer
(F):5'- GAGATCCGTTCTCCATGAATTCAGTG -3'
(R):5'- AAAGATGGCTGGCCCTGCTC -3'
|
| Posted On |
2020-08-07 |
Incidental Mutation