Incidental Mutation 'R4992:Ephb2'
ID |
386244 |
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 |
042586-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.760)
|
Stock # |
R4992 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
136374850-136563299 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 136388150 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 651
(V651A)
|
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: V651A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058135 Gene: ENSMUSG00000028664 AA Change: V651A
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: V650A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101471 Gene: ENSMUSG00000028664 AA Change: V650A
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: V651A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101472 Gene: ENSMUSG00000028664 AA Change: V651A
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 |
0.6669 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.7%
|
Validation Efficiency |
98% (84/86) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
G |
A |
15: 81,948,203 (GRCm39) |
R700Q |
possibly damaging |
Het |
4930444P10Rik |
T |
A |
1: 16,151,101 (GRCm39) |
E27V |
probably damaging |
Het |
Acsm4 |
T |
A |
7: 119,310,640 (GRCm39) |
I509N |
probably benign |
Het |
Asb18 |
T |
C |
1: 89,880,585 (GRCm39) |
M143V |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,996,251 (GRCm39) |
D4475G |
probably benign |
Het |
Bsn |
A |
T |
9: 107,992,747 (GRCm39) |
S1002T |
probably damaging |
Het |
Bub3 |
T |
C |
7: 131,162,535 (GRCm39) |
S33P |
probably damaging |
Het |
Ccna1 |
T |
A |
3: 54,957,311 (GRCm39) |
R35S |
probably damaging |
Het |
Cdc23 |
T |
A |
18: 34,779,972 (GRCm39) |
M119L |
probably benign |
Het |
Ces1a |
A |
G |
8: 93,771,650 (GRCm39) |
V49A |
probably benign |
Het |
Chi3l1 |
A |
T |
1: 134,116,364 (GRCm39) |
E282D |
probably benign |
Het |
Crocc |
G |
A |
4: 140,773,977 (GRCm39) |
A220V |
probably damaging |
Het |
Cstf1 |
A |
G |
2: 172,219,720 (GRCm39) |
Y277C |
probably damaging |
Het |
D930020B18Rik |
C |
G |
10: 121,490,666 (GRCm39) |
P89A |
probably damaging |
Het |
D930020B18Rik |
C |
T |
10: 121,490,667 (GRCm39) |
P89L |
probably damaging |
Het |
Dennd5a |
A |
G |
7: 109,493,919 (GRCm39) |
S1262P |
probably damaging |
Het |
Dnajb5 |
G |
A |
4: 42,953,386 (GRCm39) |
|
probably null |
Het |
E330034G19Rik |
A |
G |
14: 24,357,064 (GRCm39) |
K200R |
unknown |
Het |
Ect2l |
A |
G |
10: 18,048,477 (GRCm39) |
F156S |
probably benign |
Het |
Egf |
T |
C |
3: 129,505,179 (GRCm39) |
|
probably null |
Het |
Elmo1 |
T |
C |
13: 20,526,689 (GRCm39) |
F413S |
probably damaging |
Het |
Elmo3 |
T |
A |
8: 106,036,133 (GRCm39) |
Y607* |
probably null |
Het |
Eno3 |
A |
G |
11: 70,549,473 (GRCm39) |
D98G |
probably damaging |
Het |
Fbp1 |
C |
T |
13: 63,012,888 (GRCm39) |
V102I |
probably benign |
Het |
Gcn1 |
T |
C |
5: 115,737,225 (GRCm39) |
V1321A |
probably benign |
Het |
Gimd1 |
A |
T |
3: 132,340,718 (GRCm39) |
Y78F |
probably benign |
Het |
Glmn |
T |
G |
5: 107,705,167 (GRCm39) |
D483A |
probably damaging |
Het |
Gsr |
C |
T |
8: 34,183,941 (GRCm39) |
T401I |
probably damaging |
Het |
Htr3b |
G |
A |
9: 48,870,518 (GRCm39) |
H62Y |
possibly damaging |
Het |
Ifna6 |
T |
C |
4: 88,745,777 (GRCm39) |
V42A |
probably benign |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Inpp4b |
A |
T |
8: 82,759,837 (GRCm39) |
R627S |
probably damaging |
Het |
Kif13a |
C |
T |
13: 46,930,639 (GRCm39) |
V142M |
probably damaging |
Het |
Lims1 |
A |
C |
10: 58,246,063 (GRCm39) |
|
probably benign |
Het |
Ltn1 |
T |
C |
16: 87,202,475 (GRCm39) |
T1059A |
possibly damaging |
Het |
Lyst |
T |
C |
13: 13,835,748 (GRCm39) |
L1810P |
probably damaging |
Het |
Mboat1 |
T |
G |
13: 30,386,343 (GRCm39) |
I119R |
possibly damaging |
Het |
Mgat3 |
T |
A |
15: 80,096,743 (GRCm39) |
D523E |
probably benign |
Het |
Mphosph9 |
T |
C |
5: 124,442,253 (GRCm39) |
E395G |
probably damaging |
Het |
Mtcl1 |
G |
T |
17: 66,649,834 (GRCm39) |
P1877Q |
probably damaging |
Het |
Myo6 |
T |
C |
9: 80,190,792 (GRCm39) |
V781A |
possibly damaging |
Het |
Ncoa3 |
T |
A |
2: 165,911,859 (GRCm39) |
M1395K |
probably benign |
Het |
Nhlrc2 |
T |
A |
19: 56,558,966 (GRCm39) |
D150E |
probably benign |
Het |
Nlrp9a |
T |
C |
7: 26,256,811 (GRCm39) |
V54A |
probably benign |
Het |
Or1e32 |
G |
A |
11: 73,705,146 (GRCm39) |
T254I |
probably damaging |
Het |
Or3a1d |
A |
G |
11: 74,238,023 (GRCm39) |
I129T |
probably damaging |
Het |
Parp14 |
A |
T |
16: 35,661,512 (GRCm39) |
C1479S |
probably benign |
Het |
Pdcd1lg2 |
T |
C |
19: 29,423,484 (GRCm39) |
V176A |
probably damaging |
Het |
Pibf1 |
T |
A |
14: 99,388,103 (GRCm39) |
N416K |
probably damaging |
Het |
Pip4p1 |
A |
G |
14: 51,166,690 (GRCm39) |
V179A |
probably damaging |
Het |
Polb |
A |
T |
8: 23,135,087 (GRCm39) |
V115E |
probably damaging |
Het |
Polq |
T |
A |
16: 36,881,524 (GRCm39) |
N1229K |
possibly damaging |
Het |
Ppp1r21 |
A |
T |
17: 88,876,508 (GRCm39) |
D440V |
probably benign |
Het |
Ppp2ca |
T |
A |
11: 52,004,033 (GRCm39) |
H63Q |
possibly damaging |
Het |
Prl7a1 |
C |
T |
13: 27,819,669 (GRCm39) |
|
probably null |
Het |
Rgs1 |
C |
A |
1: 144,122,060 (GRCm39) |
K77N |
probably damaging |
Het |
Rnf112 |
T |
A |
11: 61,343,537 (GRCm39) |
I100F |
possibly damaging |
Het |
Rnf139 |
G |
T |
15: 58,770,325 (GRCm39) |
E117* |
probably null |
Het |
Robo1 |
G |
A |
16: 72,776,756 (GRCm39) |
V743I |
probably damaging |
Het |
Scarf1 |
T |
C |
11: 75,416,841 (GRCm39) |
V761A |
probably benign |
Het |
Scarf1 |
T |
C |
11: 75,413,056 (GRCm39) |
L434P |
probably damaging |
Het |
Sgsm1 |
A |
T |
5: 113,430,486 (GRCm39) |
S300T |
possibly damaging |
Het |
Slc26a7 |
T |
G |
4: 14,565,508 (GRCm39) |
T192P |
probably damaging |
Het |
Smarcc2 |
A |
G |
10: 128,310,579 (GRCm39) |
K403E |
probably damaging |
Het |
Snai3 |
G |
A |
8: 123,183,071 (GRCm39) |
T158M |
possibly damaging |
Het |
Spata31d1a |
T |
C |
13: 59,850,965 (GRCm39) |
N388D |
probably benign |
Het |
Sptlc3 |
G |
A |
2: 139,437,923 (GRCm39) |
V406I |
probably benign |
Het |
Tgds |
A |
C |
14: 118,355,175 (GRCm39) |
Y197D |
probably damaging |
Het |
Tll1 |
G |
T |
8: 64,546,978 (GRCm39) |
R323S |
probably damaging |
Het |
Trim14 |
A |
G |
4: 46,507,110 (GRCm39) |
Y369H |
probably damaging |
Het |
Ube2nl |
C |
T |
7: 61,199,112 (GRCm39) |
|
noncoding transcript |
Het |
Ube3a |
T |
A |
7: 58,934,568 (GRCm39) |
D560E |
possibly damaging |
Het |
Vmn2r10 |
A |
G |
5: 109,145,592 (GRCm39) |
V505A |
possibly damaging |
Het |
Vmn2r114 |
T |
G |
17: 23,510,765 (GRCm39) |
I572L |
probably benign |
Het |
Vmn2r26 |
A |
T |
6: 124,003,070 (GRCm39) |
Q160L |
probably benign |
Het |
Vmn2r75 |
A |
C |
7: 85,815,375 (GRCm39) |
|
probably null |
Het |
Vps8 |
A |
G |
16: 21,280,158 (GRCm39) |
K336E |
possibly damaging |
Het |
Zfp324 |
T |
C |
7: 12,703,300 (GRCm39) |
S32P |
probably benign |
Het |
Zfp366 |
T |
C |
13: 99,366,003 (GRCm39) |
I388T |
possibly damaging |
Het |
Zfp68 |
A |
T |
5: 138,605,599 (GRCm39) |
N203K |
possibly damaging |
Het |
Zhx2 |
A |
T |
15: 57,686,983 (GRCm39) |
N784I |
probably 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 |
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 |
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'- GAAATTATGCCCAGCAGCCC -3'
(R):5'- CCTTTGCCTGATAGAATGAAGTC -3'
Sequencing Primer
(F):5'- GAAGGAGTCCAGAGATCCGTTC -3'
(R):5'- TAGAATGAAGTCATAAGGCACCC -3'
|
Posted On |
2016-05-10 |