Incidental Mutation 'PIT4453001:Ephb2'
ID |
555302 |
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 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.760)
|
Stock # |
PIT4453001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
136374850-136563299 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 136388121 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 660
(T660A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101471
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059287]
[ENSMUST00000105845]
[ENSMUST00000105846]
|
AlphaFold |
P54763 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059287
AA Change: T661A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000058135 Gene: ENSMUSG00000028664 AA Change: T661A
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: T660A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000101471 Gene: ENSMUSG00000028664 AA Change: T660A
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: T661A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101472 Gene: ENSMUSG00000028664 AA Change: T661A
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 |
|
Coding Region Coverage |
- 1x: 93.3%
- 3x: 90.9%
- 10x: 85.6%
- 20x: 74.1%
|
Validation Efficiency |
|
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
G |
3: 121,898,965 (GRCm39) |
I649S |
probably damaging |
Het |
Abcc2 |
T |
A |
19: 43,792,221 (GRCm39) |
L334* |
probably null |
Het |
Adam28 |
A |
T |
14: 68,872,325 (GRCm39) |
S306T |
probably benign |
Het |
Adam34 |
T |
A |
8: 44,104,349 (GRCm39) |
D432V |
probably damaging |
Het |
Adcy7 |
A |
G |
8: 89,050,264 (GRCm39) |
Y723C |
probably benign |
Het |
Adgre5 |
T |
A |
8: 84,451,089 (GRCm39) |
M713L |
probably benign |
Het |
Aebp2 |
C |
A |
6: 140,583,412 (GRCm39) |
C295* |
probably null |
Het |
Amn1 |
G |
T |
6: 149,072,357 (GRCm39) |
Q127K |
probably benign |
Het |
Atcay |
C |
T |
10: 81,046,383 (GRCm39) |
V314M |
probably damaging |
Het |
Atp1a1 |
T |
C |
3: 101,488,495 (GRCm39) |
E847G |
probably benign |
Het |
Atp2b1 |
A |
G |
10: 98,852,840 (GRCm39) |
E1039G |
probably benign |
Het |
Caskin1 |
A |
G |
17: 24,718,266 (GRCm39) |
Y292C |
probably damaging |
Het |
Cftr |
A |
G |
6: 18,214,105 (GRCm39) |
T94A |
probably damaging |
Het |
Ciart |
T |
A |
3: 95,787,788 (GRCm39) |
K182M |
probably damaging |
Het |
Col1a2 |
A |
C |
6: 4,527,079 (GRCm39) |
S603R |
possibly damaging |
Het |
Cspp1 |
C |
A |
1: 10,145,097 (GRCm39) |
S298R |
possibly damaging |
Het |
Cul7 |
T |
A |
17: 46,962,746 (GRCm39) |
C126S |
probably damaging |
Het |
Cyp2c55 |
A |
T |
19: 39,000,235 (GRCm39) |
I145F |
probably damaging |
Het |
Cypt4 |
G |
C |
9: 24,536,770 (GRCm39) |
A87P |
probably damaging |
Het |
Disp2 |
G |
A |
2: 118,618,125 (GRCm39) |
V224M |
probably benign |
Het |
Dlgap5 |
TTC |
T |
14: 47,638,979 (GRCm39) |
|
probably null |
Het |
Dock1 |
A |
G |
7: 134,754,029 (GRCm39) |
K1602R |
probably benign |
Het |
Ears2 |
T |
C |
7: 121,647,562 (GRCm39) |
I241V |
probably benign |
Het |
Eml6 |
T |
C |
11: 29,752,489 (GRCm39) |
T975A |
probably damaging |
Het |
Fbxw7 |
G |
A |
3: 84,872,621 (GRCm39) |
V268M |
|
Het |
Gart |
A |
G |
16: 91,433,426 (GRCm39) |
F289S |
probably damaging |
Het |
Gmcl1 |
G |
T |
6: 86,681,520 (GRCm39) |
N391K |
probably benign |
Het |
Greb1l |
A |
C |
18: 10,533,031 (GRCm39) |
Q975P |
probably damaging |
Het |
Greb1l |
G |
T |
18: 10,533,032 (GRCm39) |
Q975H |
probably benign |
Het |
Grik5 |
C |
A |
7: 24,710,119 (GRCm39) |
R872L |
probably damaging |
Het |
Hmox2 |
T |
A |
16: 4,582,921 (GRCm39) |
I218N |
probably damaging |
Het |
Hook1 |
A |
T |
4: 95,903,089 (GRCm39) |
D526V |
probably damaging |
Het |
Ifna4 |
A |
T |
4: 88,760,191 (GRCm39) |
N32Y |
probably damaging |
Het |
Ighg2b |
T |
A |
12: 113,270,492 (GRCm39) |
N213Y |
unknown |
Het |
Itih4 |
G |
A |
14: 30,623,127 (GRCm39) |
V900I |
probably benign |
Het |
Itpr2 |
A |
T |
6: 146,274,671 (GRCm39) |
F837Y |
probably damaging |
Het |
Kif3a |
T |
C |
11: 53,469,941 (GRCm39) |
V147A |
probably benign |
Het |
Klra9 |
T |
A |
6: 130,168,284 (GRCm39) |
|
probably benign |
Het |
Lamp3 |
G |
T |
16: 19,492,210 (GRCm39) |
Q345K |
probably benign |
Het |
Ltbp3 |
G |
A |
19: 5,807,822 (GRCm39) |
E1188K |
probably damaging |
Het |
Med1 |
T |
A |
11: 98,049,243 (GRCm39) |
I518L |
probably benign |
Het |
Mis18bp1 |
T |
C |
12: 65,205,447 (GRCm39) |
T242A |
probably damaging |
Het |
Nemp1 |
T |
A |
10: 127,532,123 (GRCm39) |
F392Y |
probably benign |
Het |
Obscn |
C |
A |
11: 58,951,802 (GRCm39) |
G3984W |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,960,660 (GRCm39) |
H3217L |
possibly damaging |
Het |
Or10ak7 |
A |
G |
4: 118,791,823 (GRCm39) |
M74T |
probably benign |
Het |
Or13j1 |
A |
G |
4: 43,706,464 (GRCm39) |
Y35H |
probably damaging |
Het |
Or2d3b |
C |
T |
7: 106,514,136 (GRCm39) |
H244Y |
probably damaging |
Het |
Or2d3c |
T |
C |
7: 106,526,049 (GRCm39) |
I206V |
probably benign |
Het |
Or5l14 |
C |
T |
2: 87,792,802 (GRCm39) |
V145M |
possibly damaging |
Het |
P4ha1 |
G |
T |
10: 59,186,294 (GRCm39) |
A258S |
probably benign |
Het |
Parn |
T |
C |
16: 13,425,145 (GRCm39) |
I423V |
probably benign |
Het |
Pcdh20 |
C |
A |
14: 88,704,744 (GRCm39) |
S852I |
probably damaging |
Het |
Pcnx3 |
A |
G |
19: 5,722,784 (GRCm39) |
|
probably null |
Het |
Pcsk1 |
A |
T |
13: 75,260,769 (GRCm39) |
I331F |
probably damaging |
Het |
Pkd1l2 |
G |
T |
8: 117,748,761 (GRCm39) |
S1803R |
probably benign |
Het |
Pkd1l3 |
C |
A |
8: 110,387,433 (GRCm39) |
N1792K |
probably damaging |
Het |
Plekhg1 |
C |
A |
10: 3,913,469 (GRCm39) |
Q1119K |
|
Het |
Prr30 |
T |
A |
14: 101,436,371 (GRCm39) |
T64S |
probably benign |
Het |
Rec114 |
T |
C |
9: 58,567,653 (GRCm39) |
N111S |
probably benign |
Het |
Reck |
G |
A |
4: 43,895,850 (GRCm39) |
V79I |
probably benign |
Het |
Rexo1 |
A |
G |
10: 80,386,231 (GRCm39) |
F276L |
probably damaging |
Het |
Rgs6 |
T |
C |
12: 83,138,553 (GRCm39) |
Y296H |
probably damaging |
Het |
Sdk1 |
A |
G |
5: 142,197,793 (GRCm39) |
R2149G |
probably benign |
Het |
Slc20a2 |
C |
A |
8: 23,025,398 (GRCm39) |
F33L |
probably damaging |
Het |
Spopl |
T |
A |
2: 23,435,461 (GRCm39) |
T25S |
probably damaging |
Het |
Srcap |
A |
T |
7: 127,148,492 (GRCm39) |
I1947F |
possibly damaging |
Het |
Srek1 |
A |
C |
13: 103,881,291 (GRCm39) |
|
probably null |
Het |
St8sia1 |
C |
T |
6: 142,774,978 (GRCm39) |
W200* |
probably null |
Het |
Tas2r106 |
A |
T |
6: 131,655,465 (GRCm39) |
F129I |
possibly damaging |
Het |
Tbrg4 |
A |
T |
11: 6,570,857 (GRCm39) |
L205Q |
probably damaging |
Het |
Tchh |
C |
A |
3: 93,353,187 (GRCm39) |
R876S |
unknown |
Het |
Thap12 |
G |
T |
7: 98,364,245 (GRCm39) |
A138S |
probably benign |
Het |
Tjp1 |
C |
T |
7: 64,993,362 (GRCm39) |
|
probably null |
Het |
Traf4 |
G |
A |
11: 78,052,360 (GRCm39) |
P95L |
probably benign |
Het |
Trappc9 |
ATCTC |
ATCTCTC |
15: 72,903,447 (GRCm39) |
|
probably null |
Het |
Usp20 |
G |
A |
2: 30,907,498 (GRCm39) |
V677M |
possibly damaging |
Het |
Usp50 |
C |
A |
2: 126,625,236 (GRCm39) |
|
probably benign |
Het |
Vmn1r21 |
T |
C |
6: 57,821,307 (GRCm39) |
T46A |
probably benign |
Het |
Vmn2r54 |
T |
A |
7: 12,363,669 (GRCm39) |
H408L |
probably benign |
Het |
Zfp266 |
T |
C |
9: 20,417,299 (GRCm39) |
T30A |
probably benign |
Het |
Zfp536 |
T |
C |
7: 37,179,182 (GRCm39) |
H1141R |
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 |
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 |
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'- GTGAAATTATGCCCAGCAGCC -3'
(R):5'- TCATAAGGCACCCACAATGG -3'
Sequencing Primer
(F):5'- TGTTCACACCCCTGAGGC -3'
(R):5'- CCACAATGGGAATGATGGGAC -3'
|
Posted On |
2019-06-07 |