Incidental Mutation 'R0614:Ephb2'
ID |
54937 |
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 |
038803-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.740)
|
Stock # |
R0614 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
136374850-136563299 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 136400676 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 533
(Y533C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101472
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059287]
[ENSMUST00000105845]
[ENSMUST00000105846]
|
AlphaFold |
P54763 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059287
AA Change: Y534C
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000058135 Gene: ENSMUSG00000028664 AA Change: Y534C
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 benign
Transcript: ENSMUST00000105845
AA Change: Y533C
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000101471 Gene: ENSMUSG00000028664 AA Change: Y533C
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 benign
Transcript: ENSMUST00000105846
AA Change: Y533C
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000101472 Gene: ENSMUSG00000028664 AA Change: Y533C
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 |
unknown
Transcript: ENSMUST00000156558
AA Change: Y201C
|
SMART Domains |
Protein: ENSMUSP00000116350 Gene: ENSMUSG00000028664 AA Change: Y201C
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 |
0.1000 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.9%
|
Validation Efficiency |
97% (61/63) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
C |
T |
13: 77,340,782 (GRCm39) |
T137I |
probably benign |
Het |
3110082I17Rik |
C |
T |
5: 139,349,786 (GRCm39) |
V88I |
possibly damaging |
Het |
4930453N24Rik |
T |
A |
16: 64,586,977 (GRCm39) |
Q249L |
probably damaging |
Het |
Ap1g2 |
C |
T |
14: 55,337,230 (GRCm39) |
V702I |
probably benign |
Het |
Armcx5 |
G |
A |
X: 134,647,564 (GRCm39) |
E547K |
probably damaging |
Het |
Asah2 |
C |
A |
19: 31,994,128 (GRCm39) |
V406L |
probably damaging |
Het |
Atp8b1 |
T |
C |
18: 64,666,658 (GRCm39) |
|
probably benign |
Het |
Axl |
C |
A |
7: 25,473,588 (GRCm39) |
R346L |
probably benign |
Het |
Baz1a |
G |
A |
12: 54,988,304 (GRCm39) |
R282* |
probably null |
Het |
Card14 |
A |
G |
11: 119,213,653 (GRCm39) |
N200S |
probably benign |
Het |
Cdt1 |
A |
G |
8: 123,294,876 (GRCm39) |
T28A |
probably benign |
Het |
Cep250 |
C |
T |
2: 155,812,017 (GRCm39) |
Q438* |
probably null |
Het |
Dapk1 |
C |
A |
13: 60,865,946 (GRCm39) |
P181Q |
probably damaging |
Het |
Dnah17 |
C |
T |
11: 117,961,394 (GRCm39) |
|
probably benign |
Het |
Dph7 |
T |
C |
2: 24,858,968 (GRCm39) |
|
probably null |
Het |
Edc4 |
A |
T |
8: 106,616,028 (GRCm39) |
D801V |
possibly damaging |
Het |
Eif4g2 |
A |
G |
7: 110,676,430 (GRCm39) |
|
probably null |
Het |
Eml2 |
T |
C |
7: 18,936,516 (GRCm39) |
L531P |
probably damaging |
Het |
Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,807,877 (GRCm39) |
K1399E |
probably benign |
Het |
Hcls1 |
A |
G |
16: 36,782,987 (GRCm39) |
D446G |
probably damaging |
Het |
Hif1a |
T |
A |
12: 73,992,405 (GRCm39) |
N787K |
probably damaging |
Het |
Ints14 |
T |
C |
9: 64,871,715 (GRCm39) |
S18P |
probably benign |
Het |
Kalrn |
A |
T |
16: 33,814,040 (GRCm39) |
|
probably benign |
Het |
Llgl2 |
T |
A |
11: 115,741,093 (GRCm39) |
D502E |
probably damaging |
Het |
Lrwd1 |
A |
G |
5: 136,152,354 (GRCm39) |
V570A |
probably damaging |
Het |
Mga |
C |
G |
2: 119,794,947 (GRCm39) |
P2877R |
probably damaging |
Het |
Mvd |
T |
C |
8: 123,163,292 (GRCm39) |
I313V |
probably benign |
Het |
Myo15b |
C |
A |
11: 115,773,739 (GRCm39) |
P270T |
probably damaging |
Het |
Naip1 |
C |
A |
13: 100,580,708 (GRCm39) |
V180L |
probably benign |
Het |
Ofd1 |
T |
C |
X: 165,218,536 (GRCm39) |
|
probably benign |
Het |
Or1j19 |
T |
A |
2: 36,676,705 (GRCm39) |
L56H |
probably damaging |
Het |
Or4c125 |
T |
A |
2: 89,170,329 (GRCm39) |
I106F |
probably damaging |
Het |
Or4d11 |
A |
T |
19: 12,013,929 (GRCm39) |
M59K |
possibly damaging |
Het |
Otogl |
G |
A |
10: 107,634,216 (GRCm39) |
P1420S |
probably benign |
Het |
Pakap |
C |
A |
4: 57,856,720 (GRCm39) |
A926E |
probably benign |
Het |
Pcnt |
C |
T |
10: 76,256,150 (GRCm39) |
V697M |
probably damaging |
Het |
Plekha7 |
A |
T |
7: 115,753,880 (GRCm39) |
Y702* |
probably null |
Het |
Plxnb3 |
A |
G |
X: 72,807,964 (GRCm39) |
|
probably benign |
Het |
Ptgis |
A |
G |
2: 167,048,802 (GRCm39) |
F405L |
probably damaging |
Het |
Ptprk |
C |
T |
10: 27,951,132 (GRCm39) |
P19L |
probably damaging |
Het |
Ptprt |
A |
G |
2: 161,654,040 (GRCm39) |
V530A |
possibly damaging |
Het |
Rasgrp4 |
A |
T |
7: 28,845,276 (GRCm39) |
Y299F |
probably damaging |
Het |
Slc39a11 |
T |
A |
11: 113,414,452 (GRCm39) |
|
probably null |
Het |
Slc6a15 |
T |
A |
10: 103,240,213 (GRCm39) |
L312* |
probably null |
Het |
Slf1 |
T |
A |
13: 77,197,233 (GRCm39) |
M794L |
probably benign |
Het |
Sntg2 |
G |
A |
12: 30,307,977 (GRCm39) |
T236I |
possibly damaging |
Het |
Stau1 |
T |
C |
2: 166,792,726 (GRCm39) |
Y413C |
probably damaging |
Het |
Syne2 |
T |
G |
12: 75,959,127 (GRCm39) |
|
probably null |
Het |
Tas2r104 |
A |
T |
6: 131,662,165 (GRCm39) |
N181K |
probably damaging |
Het |
Tmem81 |
G |
A |
1: 132,435,469 (GRCm39) |
V92I |
probably benign |
Het |
Trap1 |
A |
G |
16: 3,878,615 (GRCm39) |
|
probably benign |
Het |
Trip12 |
T |
C |
1: 84,735,482 (GRCm39) |
E905G |
probably damaging |
Het |
Usp2 |
C |
T |
9: 44,003,789 (GRCm39) |
R494* |
probably null |
Het |
Vps13a |
G |
T |
19: 16,630,058 (GRCm39) |
R2692S |
probably damaging |
Het |
Zfhx3 |
T |
C |
8: 109,675,171 (GRCm39) |
S2074P |
probably benign |
Het |
Zfhx3 |
C |
G |
8: 109,675,599 (GRCm39) |
Y2216* |
probably null |
Het |
Zfp423 |
A |
G |
8: 88,508,742 (GRCm39) |
F409S |
probably damaging |
Het |
Zfp472 |
G |
A |
17: 33,196,908 (GRCm39) |
E328K |
possibly damaging |
Het |
Zfp619 |
T |
A |
7: 39,187,099 (GRCm39) |
M1043K |
possibly damaging |
Het |
Zfp940 |
T |
C |
7: 29,545,671 (GRCm39) |
I79V |
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 |
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 |
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'- ATTGCGTCCCACAGCCATCAAG -3'
(R):5'- TTCCTGCTCAGCGTGAGGACATTG -3'
Sequencing Primer
(F):5'- TGGACACCTGAGATATCCTGGAC -3'
(R):5'- GACATTGCTGGGGTTAGAAAC -3'
|
Posted On |
2013-07-11 |