Incidental Mutation 'R0121:Ephb2'
ID |
21024 |
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 |
038406-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.760)
|
Stock # |
R0121 (G1)
|
Quality Score |
222 |
Status
|
Validated
(trace)
|
Chromosome |
4 |
Chromosomal Location |
136374850-136563299 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 136498368 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 237
(I237T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101472
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059287]
[ENSMUST00000105845]
[ENSMUST00000105846]
|
AlphaFold |
P54763 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000059287
AA Change: I237T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000058135 Gene: ENSMUSG00000028664 AA Change: I237T
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: I237T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000101471 Gene: ENSMUSG00000028664 AA Change: I237T
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: I237T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000101472 Gene: ENSMUSG00000028664 AA Change: I237T
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: ENSMUST00000144573
|
Meta Mutation Damage Score |
0.2120 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 89.8%
|
Validation Efficiency |
100% (63/63) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,298,945 (GRCm39) |
|
probably null |
Het |
Adgra3 |
T |
C |
5: 50,183,128 (GRCm39) |
|
probably benign |
Het |
Anxa7 |
A |
T |
14: 20,510,227 (GRCm39) |
L386M |
probably damaging |
Het |
Ap2b1 |
A |
G |
11: 83,212,793 (GRCm39) |
M58V |
possibly damaging |
Het |
Arfip2 |
A |
G |
7: 105,285,578 (GRCm39) |
L224P |
probably damaging |
Het |
Arhgap20 |
A |
G |
9: 51,750,251 (GRCm39) |
N373S |
possibly damaging |
Het |
Asph |
T |
C |
4: 9,635,918 (GRCm39) |
D73G |
probably damaging |
Het |
Atp1a2 |
T |
A |
1: 172,116,909 (GRCm39) |
E236V |
probably damaging |
Het |
Atp2a1 |
A |
G |
7: 126,057,116 (GRCm39) |
S170P |
probably damaging |
Het |
Atp4a |
C |
G |
7: 30,419,526 (GRCm39) |
R659G |
probably benign |
Het |
B4galnt3 |
C |
T |
6: 120,191,999 (GRCm39) |
R578H |
probably benign |
Het |
Ccdc178 |
C |
A |
18: 21,978,081 (GRCm39) |
|
probably null |
Het |
Ccnh |
T |
A |
13: 85,354,312 (GRCm39) |
M252K |
probably damaging |
Het |
Clec4b2 |
A |
G |
6: 123,181,131 (GRCm39) |
D172G |
probably benign |
Het |
Col1a1 |
A |
G |
11: 94,828,895 (GRCm39) |
E79G |
unknown |
Het |
Csf3r |
A |
G |
4: 125,923,642 (GRCm39) |
N51D |
probably benign |
Het |
Cul7 |
C |
T |
17: 46,974,299 (GRCm39) |
L1489F |
probably damaging |
Het |
Cyp2b13 |
G |
A |
7: 25,786,010 (GRCm39) |
C309Y |
probably benign |
Het |
Dync2h1 |
A |
T |
9: 7,001,327 (GRCm39) |
|
probably benign |
Het |
Edn1 |
A |
G |
13: 42,458,741 (GRCm39) |
T135A |
probably benign |
Het |
Fam111a |
T |
A |
19: 12,561,444 (GRCm39) |
F12L |
probably benign |
Het |
Foxi2 |
C |
A |
7: 135,013,640 (GRCm39) |
A290E |
probably benign |
Het |
Gabra6 |
A |
G |
11: 42,205,798 (GRCm39) |
S353P |
probably benign |
Het |
Gm4847 |
T |
C |
1: 166,469,857 (GRCm39) |
D72G |
probably damaging |
Het |
Grhl3 |
A |
G |
4: 135,279,860 (GRCm39) |
I398T |
probably damaging |
Het |
Gtdc1 |
T |
C |
2: 44,455,550 (GRCm39) |
|
probably benign |
Het |
Kel |
A |
C |
6: 41,678,998 (GRCm39) |
|
probably benign |
Het |
L3mbtl3 |
C |
T |
10: 26,189,768 (GRCm39) |
D499N |
unknown |
Het |
Lama1 |
T |
A |
17: 68,105,508 (GRCm39) |
|
probably benign |
Het |
Mamdc2 |
T |
A |
19: 23,288,223 (GRCm39) |
E605V |
probably benign |
Het |
Nolc1 |
G |
A |
19: 46,069,817 (GRCm39) |
|
probably benign |
Het |
Nudt12 |
A |
T |
17: 59,314,634 (GRCm39) |
S317T |
possibly damaging |
Het |
Optn |
C |
T |
2: 5,028,926 (GRCm39) |
G526R |
probably damaging |
Het |
Or4k35 |
A |
T |
2: 111,100,659 (GRCm39) |
C18S |
probably benign |
Het |
Or5w20 |
A |
G |
2: 87,727,434 (GRCm39) |
K297R |
possibly damaging |
Het |
Or8g23 |
T |
A |
9: 38,971,056 (GRCm39) |
K302M |
probably damaging |
Het |
Or8k38 |
A |
G |
2: 86,488,163 (GRCm39) |
V213A |
probably benign |
Het |
Pbld1 |
C |
T |
10: 62,907,282 (GRCm39) |
|
probably benign |
Het |
Prl8a9 |
T |
G |
13: 27,744,589 (GRCm39) |
N84T |
probably benign |
Het |
Psph |
T |
A |
5: 129,868,633 (GRCm39) |
|
probably benign |
Het |
Sbf2 |
A |
G |
7: 110,088,426 (GRCm39) |
|
probably null |
Het |
Senp6 |
A |
G |
9: 80,023,952 (GRCm39) |
D405G |
probably benign |
Het |
Serpinb1a |
T |
A |
13: 33,032,754 (GRCm39) |
|
probably benign |
Het |
Slc2a9 |
T |
C |
5: 38,556,086 (GRCm39) |
I287V |
probably benign |
Het |
Sptbn2 |
T |
C |
19: 4,795,321 (GRCm39) |
F1593S |
probably damaging |
Het |
Tcf21 |
T |
C |
10: 22,695,706 (GRCm39) |
T33A |
probably benign |
Het |
Tdrd3 |
A |
T |
14: 87,776,915 (GRCm39) |
Q727L |
probably damaging |
Het |
Tecpr1 |
C |
T |
5: 144,147,017 (GRCm39) |
E450K |
probably benign |
Het |
Tenm3 |
G |
A |
8: 48,795,694 (GRCm39) |
T532I |
probably damaging |
Het |
Tg |
A |
T |
15: 66,612,630 (GRCm39) |
Q396L |
probably benign |
Het |
Tmtc3 |
A |
G |
10: 100,294,770 (GRCm39) |
|
probably benign |
Het |
Twnk |
T |
C |
19: 44,997,704 (GRCm39) |
|
probably benign |
Het |
Ubac1 |
A |
G |
2: 25,898,871 (GRCm39) |
|
probably null |
Het |
Ubn2 |
T |
C |
6: 38,429,793 (GRCm39) |
|
probably benign |
Het |
Zfp944 |
T |
A |
17: 22,558,249 (GRCm39) |
T333S |
possibly 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 |
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 |
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'- AAAACCTCCAGCCTTGTCAGTCAG -3'
(R):5'- GTGTCCCGCAATGGTTTCTACCTG -3'
Sequencing Primer
(F):5'- CTTGTCAGTCAGAGCCCAG -3'
(R):5'- CTGGCCTTCCAGGACTATG -3'
|
Posted On |
2013-04-11 |