Incidental Mutation 'R6263:Plxnb2'
| ID |
506847 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plxnb2
|
| Ensembl Gene |
ENSMUSG00000036606 |
| Gene Name |
plexin B2 |
| Synonyms |
1110007H23Rik, Debt |
| MMRRC Submission |
044437-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.938)
|
| Stock # |
R6263 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
89039752-89064960 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89046189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 942
(V942E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060808]
[ENSMUST00000109331]
|
| AlphaFold |
B2RXS4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060808
AA Change: V942E
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606
AA Change: V942E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Sema
|
34 |
452 |
8.87e-92 |
SMART |
|
PSI
|
470 |
521 |
1.94e-10 |
SMART |
|
PSI
|
616 |
669 |
4.09e-1 |
SMART |
|
PSI
|
761 |
804 |
7.02e-8 |
SMART |
|
IPT
|
805 |
896 |
8.14e-19 |
SMART |
|
IPT
|
897 |
983 |
1.1e-15 |
SMART |
|
IPT
|
985 |
1096 |
5.06e-6 |
SMART |
|
Pfam:Plexin_cytopl
|
1275 |
1809 |
1.6e-225 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109331
AA Change: V942E
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606
AA Change: V942E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Sema
|
34 |
452 |
8.87e-92 |
SMART |
|
PSI
|
470 |
521 |
1.94e-10 |
SMART |
|
PSI
|
616 |
669 |
4.09e-1 |
SMART |
|
PSI
|
761 |
804 |
7.02e-8 |
SMART |
|
IPT
|
805 |
896 |
8.14e-19 |
SMART |
|
IPT
|
897 |
983 |
1.1e-15 |
SMART |
|
IPT
|
985 |
1096 |
5.06e-6 |
SMART |
|
Pfam:Plexin_cytopl
|
1274 |
1809 |
4.4e-251 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131062
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139372
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151418
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197760
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230393
|
| Meta Mutation Damage Score |
0.4529 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
97% (66/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the B class of plexins, such as PLXNB2 are transmembrane receptors that participate in axon guidance and cell migration in response to semaphorins (Perrot et al. (2002) [PubMed 12183458]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygotes for a targeted mutation of this gene die perinatally of exencephaly or survive and seem normal despite severe abnormalities in cerebellar layering and foliation; the external granule cell layer is disorganized due to continued proliferation and migration of differentiated granule cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,995,641 (GRCm39) |
I5642V |
probably benign |
Het |
| Atp5f1a |
A |
G |
18: 77,866,930 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
T |
A |
3: 36,985,260 (GRCm39) |
N863K |
probably benign |
Het |
| Bsn |
A |
T |
9: 107,990,453 (GRCm39) |
F1766L |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,938,807 (GRCm39) |
Q266R |
probably damaging |
Het |
| Cdh10 |
T |
A |
15: 18,964,154 (GRCm39) |
D105E |
possibly damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,455,539 (GRCm39) |
D418V |
probably damaging |
Het |
| Cnnm2 |
C |
A |
19: 46,845,344 (GRCm39) |
T612K |
probably benign |
Het |
| Col3a1 |
T |
C |
1: 45,360,735 (GRCm39) |
V55A |
unknown |
Het |
| Cpd |
A |
C |
11: 76,737,097 (GRCm39) |
D232E |
probably benign |
Het |
| Csde1 |
A |
G |
3: 102,947,333 (GRCm39) |
H95R |
probably benign |
Het |
| Ctcfl |
T |
A |
2: 172,937,130 (GRCm39) |
H596L |
probably benign |
Het |
| Cwc22 |
T |
C |
2: 77,726,515 (GRCm39) |
R855G |
possibly damaging |
Het |
| Cwc25 |
A |
G |
11: 97,644,053 (GRCm39) |
Y227H |
probably damaging |
Het |
| Cyp2c38 |
G |
A |
19: 39,380,659 (GRCm39) |
P409S |
probably damaging |
Het |
| Ddx5 |
A |
G |
11: 106,679,139 (GRCm39) |
S2P |
possibly damaging |
Het |
| Dnah2 |
C |
A |
11: 69,348,238 (GRCm39) |
G2570W |
probably damaging |
Het |
| Dnajc10 |
T |
A |
2: 80,174,292 (GRCm39) |
V528E |
probably damaging |
Het |
| Efcab3 |
G |
A |
11: 104,810,312 (GRCm39) |
D3150N |
unknown |
Het |
| Fmo1 |
A |
G |
1: 162,677,629 (GRCm39) |
|
probably null |
Het |
| Gpatch1 |
C |
A |
7: 35,002,848 (GRCm39) |
D221Y |
probably damaging |
Het |
| Ino80 |
T |
C |
2: 119,213,895 (GRCm39) |
Y1225C |
probably damaging |
Het |
| Itga7 |
T |
A |
10: 128,779,955 (GRCm39) |
D501E |
probably benign |
Het |
| Lgr4 |
T |
C |
2: 109,842,243 (GRCm39) |
S743P |
possibly damaging |
Het |
| Lilra5 |
A |
T |
7: 4,241,360 (GRCm39) |
Y99F |
probably damaging |
Het |
| Lmna |
A |
G |
3: 88,410,265 (GRCm39) |
V49A |
probably damaging |
Het |
| Lrrc72 |
G |
A |
12: 36,258,603 (GRCm39) |
R267* |
probably null |
Het |
| Mapkbp1 |
T |
C |
2: 119,853,772 (GRCm39) |
S1199P |
probably damaging |
Het |
| Mmp25 |
G |
A |
17: 23,849,768 (GRCm39) |
A541V |
possibly damaging |
Het |
| Myh10 |
A |
T |
11: 68,701,058 (GRCm39) |
N1756Y |
probably damaging |
Het |
| Nfe2 |
A |
G |
15: 103,159,378 (GRCm39) |
I31T |
probably damaging |
Het |
| Nfe2l1 |
A |
T |
11: 96,708,570 (GRCm39) |
F732I |
probably benign |
Het |
| Or4a39 |
C |
G |
2: 89,237,074 (GRCm39) |
M116I |
possibly damaging |
Het |
| Or4c12b |
T |
A |
2: 89,647,104 (GRCm39) |
C145S |
probably damaging |
Het |
| Or52e19b |
C |
A |
7: 103,032,403 (GRCm39) |
V269F |
possibly damaging |
Het |
| Pax6 |
T |
C |
2: 105,523,199 (GRCm39) |
|
probably null |
Het |
| Phb1 |
A |
G |
11: 95,568,941 (GRCm39) |
E192G |
probably damaging |
Het |
| Plekhn1 |
A |
T |
4: 156,309,650 (GRCm39) |
|
probably null |
Het |
| Potegl |
T |
A |
2: 23,156,745 (GRCm39) |
|
probably benign |
Het |
| Rsrc2 |
G |
A |
5: 123,877,751 (GRCm39) |
|
probably benign |
Het |
| Septin8 |
G |
A |
11: 53,439,210 (GRCm39) |
C460Y |
probably benign |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
| Slc16a7 |
A |
G |
10: 125,130,508 (GRCm39) |
I59T |
probably benign |
Het |
| Slc35d1 |
A |
T |
4: 103,065,365 (GRCm39) |
I172N |
possibly damaging |
Het |
| Smg5 |
A |
T |
3: 88,249,208 (GRCm39) |
N40Y |
possibly damaging |
Het |
| Smurf1 |
A |
G |
5: 144,818,541 (GRCm39) |
V633A |
probably damaging |
Het |
| Snx9 |
T |
C |
17: 5,937,324 (GRCm39) |
V22A |
probably damaging |
Het |
| Sox6 |
A |
T |
7: 115,076,295 (GRCm39) |
M741K |
probably damaging |
Het |
| Spata31d1d |
T |
C |
13: 59,873,797 (GRCm39) |
Q1246R |
probably benign |
Het |
| Sval1 |
A |
G |
6: 41,928,660 (GRCm39) |
E24G |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,731,867 (GRCm39) |
I59V |
probably benign |
Het |
| Tmem151b |
T |
A |
17: 45,857,992 (GRCm39) |
T85S |
probably benign |
Het |
| Tpr |
T |
A |
1: 150,317,996 (GRCm39) |
|
probably null |
Het |
| Trpm6 |
A |
C |
19: 18,831,472 (GRCm39) |
T1446P |
possibly damaging |
Het |
| Tsc22d4 |
A |
T |
5: 137,766,441 (GRCm39) |
K502N |
possibly damaging |
Het |
| Tssk3 |
C |
T |
4: 129,383,051 (GRCm39) |
S207N |
probably benign |
Het |
| Ttbk1 |
G |
T |
17: 46,778,188 (GRCm39) |
P618Q |
probably damaging |
Het |
| Ttll6 |
A |
T |
11: 96,047,371 (GRCm39) |
M657L |
probably benign |
Het |
| Ubash3a |
T |
A |
17: 31,434,069 (GRCm39) |
I138N |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,090,839 (GRCm39) |
Y490C |
probably damaging |
Het |
| Vmn1r82 |
G |
T |
7: 12,039,461 (GRCm39) |
V127F |
probably damaging |
Het |
| Vmn2r32 |
A |
T |
7: 7,479,691 (GRCm39) |
S161T |
possibly damaging |
Het |
| Wdr49 |
T |
C |
3: 75,388,824 (GRCm39) |
I58M |
possibly damaging |
Het |
| Wiz |
A |
T |
17: 32,579,417 (GRCm39) |
|
probably null |
Het |
| Wrap53 |
A |
T |
11: 69,453,619 (GRCm39) |
Y324* |
probably null |
Het |
| Zfp747 |
A |
C |
7: 126,975,138 (GRCm39) |
|
probably benign |
Het |
| Zfp827 |
A |
G |
8: 79,905,702 (GRCm39) |
Y33C |
probably damaging |
Het |
|
| Other mutations in Plxnb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00546:Plxnb2
|
APN |
15 |
89,046,569 (GRCm39) |
splice site |
probably benign |
|
|
IGL01574:Plxnb2
|
APN |
15 |
89,046,886 (GRCm39) |
splice site |
probably null |
|
|
IGL01695:Plxnb2
|
APN |
15 |
89,041,417 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL01763:Plxnb2
|
APN |
15 |
89,046,184 (GRCm39) |
splice site |
probably null |
|
|
IGL01921:Plxnb2
|
APN |
15 |
89,048,474 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02129:Plxnb2
|
APN |
15 |
89,044,613 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02153:Plxnb2
|
APN |
15 |
89,050,016 (GRCm39) |
nonsense |
probably null |
|
|
IGL02637:Plxnb2
|
APN |
15 |
89,048,260 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02892:Plxnb2
|
APN |
15 |
89,045,425 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03108:Plxnb2
|
APN |
15 |
89,042,234 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL03115:Plxnb2
|
APN |
15 |
89,046,641 (GRCm39) |
splice site |
probably benign |
|
|
P0040:Plxnb2
|
UTSW |
15 |
89,047,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0022:Plxnb2
|
UTSW |
15 |
89,047,479 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0095:Plxnb2
|
UTSW |
15 |
89,049,534 (GRCm39) |
missense |
probably benign |
|
|
R0103:Plxnb2
|
UTSW |
15 |
89,045,972 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0544:Plxnb2
|
UTSW |
15 |
89,042,816 (GRCm39) |
splice site |
probably benign |
|
|
R0671:Plxnb2
|
UTSW |
15 |
89,042,184 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1279:Plxnb2
|
UTSW |
15 |
89,046,524 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1530:Plxnb2
|
UTSW |
15 |
89,051,395 (GRCm39) |
missense |
probably benign |
|
|
R1542:Plxnb2
|
UTSW |
15 |
89,050,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1610:Plxnb2
|
UTSW |
15 |
89,042,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1686:Plxnb2
|
UTSW |
15 |
89,046,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1702:Plxnb2
|
UTSW |
15 |
89,046,187 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1996:Plxnb2
|
UTSW |
15 |
89,042,971 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1997:Plxnb2
|
UTSW |
15 |
89,042,971 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2031:Plxnb2
|
UTSW |
15 |
89,047,013 (GRCm39) |
nonsense |
probably null |
|
|
R2049:Plxnb2
|
UTSW |
15 |
89,043,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2072:Plxnb2
|
UTSW |
15 |
89,042,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2076:Plxnb2
|
UTSW |
15 |
89,042,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2140:Plxnb2
|
UTSW |
15 |
89,040,765 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2418:Plxnb2
|
UTSW |
15 |
89,045,272 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2419:Plxnb2
|
UTSW |
15 |
89,045,272 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3752:Plxnb2
|
UTSW |
15 |
89,041,458 (GRCm39) |
splice site |
probably benign |
|
|
R3825:Plxnb2
|
UTSW |
15 |
89,050,602 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4154:Plxnb2
|
UTSW |
15 |
89,043,845 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4197:Plxnb2
|
UTSW |
15 |
89,041,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4385:Plxnb2
|
UTSW |
15 |
89,044,826 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4434:Plxnb2
|
UTSW |
15 |
89,047,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4678:Plxnb2
|
UTSW |
15 |
89,045,131 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4717:Plxnb2
|
UTSW |
15 |
89,041,622 (GRCm39) |
nonsense |
probably null |
|
|
R4773:Plxnb2
|
UTSW |
15 |
89,051,150 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4905:Plxnb2
|
UTSW |
15 |
89,041,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5368:Plxnb2
|
UTSW |
15 |
89,043,796 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5418:Plxnb2
|
UTSW |
15 |
89,050,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5484:Plxnb2
|
UTSW |
15 |
89,048,412 (GRCm39) |
splice site |
probably null |
|
|
R5520:Plxnb2
|
UTSW |
15 |
89,051,746 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5566:Plxnb2
|
UTSW |
15 |
89,048,223 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5568:Plxnb2
|
UTSW |
15 |
89,041,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5619:Plxnb2
|
UTSW |
15 |
89,047,012 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5685:Plxnb2
|
UTSW |
15 |
89,051,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5688:Plxnb2
|
UTSW |
15 |
89,042,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5809:Plxnb2
|
UTSW |
15 |
89,051,774 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5813:Plxnb2
|
UTSW |
15 |
89,044,962 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5866:Plxnb2
|
UTSW |
15 |
89,051,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6016:Plxnb2
|
UTSW |
15 |
89,045,225 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6117:Plxnb2
|
UTSW |
15 |
89,042,203 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6187:Plxnb2
|
UTSW |
15 |
89,051,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6260:Plxnb2
|
UTSW |
15 |
89,049,494 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6269:Plxnb2
|
UTSW |
15 |
89,044,916 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6351:Plxnb2
|
UTSW |
15 |
89,041,973 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6522:Plxnb2
|
UTSW |
15 |
89,048,629 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6856:Plxnb2
|
UTSW |
15 |
89,048,523 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6930:Plxnb2
|
UTSW |
15 |
89,044,592 (GRCm39) |
missense |
probably benign |
|
|
R7354:Plxnb2
|
UTSW |
15 |
89,049,928 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7513:Plxnb2
|
UTSW |
15 |
89,042,525 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7522:Plxnb2
|
UTSW |
15 |
89,045,977 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7730:Plxnb2
|
UTSW |
15 |
89,046,533 (GRCm39) |
missense |
probably benign |
|
|
R7766:Plxnb2
|
UTSW |
15 |
89,045,474 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7781:Plxnb2
|
UTSW |
15 |
89,041,225 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8126:Plxnb2
|
UTSW |
15 |
89,047,506 (GRCm39) |
missense |
probably benign |
|
|
R8131:Plxnb2
|
UTSW |
15 |
89,042,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8372:Plxnb2
|
UTSW |
15 |
89,042,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8736:Plxnb2
|
UTSW |
15 |
89,046,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8772:Plxnb2
|
UTSW |
15 |
89,046,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9022:Plxnb2
|
UTSW |
15 |
89,048,471 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9044:Plxnb2
|
UTSW |
15 |
89,044,566 (GRCm39) |
splice site |
probably benign |
|
|
R9253:Plxnb2
|
UTSW |
15 |
89,052,015 (GRCm39) |
missense |
probably benign |
|
|
R9398:Plxnb2
|
UTSW |
15 |
89,045,122 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9562:Plxnb2
|
UTSW |
15 |
89,050,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9568:Plxnb2
|
UTSW |
15 |
89,045,160 (GRCm39) |
nonsense |
probably null |
|
|
R9613:Plxnb2
|
UTSW |
15 |
89,048,496 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0027:Plxnb2
|
UTSW |
15 |
89,044,916 (GRCm39) |
missense |
probably benign |
0.18 |
|
Z1177:Plxnb2
|
UTSW |
15 |
89,043,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGACCTGTGACACACTGTAG -3'
(R):5'- CCCAGCAAGTTGGCATCTAAC -3'
Sequencing Primer
(F):5'- ACCTGTGACACACTGTAGCTGTG -3'
(R):5'- GTTGGCATCTAACGATAATCACTCTC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation