Incidental Mutation 'R2418:Plxnb2'
ID |
249104 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plxnb2
|
Ensembl Gene |
ENSMUSG00000036606 |
Gene Name |
plexin B2 |
Synonyms |
1110007H23Rik, Debt |
MMRRC Submission |
040380-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.938)
|
Stock # |
R2418 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
89039752-89064960 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 89045272 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1058
(V1058A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060808]
[ENSMUST00000109331]
|
AlphaFold |
B2RXS4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060808
AA Change: V1058A
PolyPhen 2
Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000051731 Gene: ENSMUSG00000036606 AA Change: V1058A
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 |
possibly damaging
Transcript: ENSMUST00000109331
AA Change: V1058A
PolyPhen 2
Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000104955 Gene: ENSMUSG00000036606 AA Change: V1058A
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: ENSMUST00000143014
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151418
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197760
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229966
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230393
|
Meta Mutation Damage Score |
0.1419 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
G |
A |
2: 25,328,001 (GRCm39) |
A768T |
probably benign |
Het |
Acox3 |
A |
G |
5: 35,761,982 (GRCm39) |
N442S |
probably benign |
Het |
Acp5 |
C |
A |
9: 22,041,248 (GRCm39) |
V60L |
probably benign |
Het |
Arap3 |
T |
C |
18: 38,122,997 (GRCm39) |
D501G |
probably damaging |
Het |
Bcorl1 |
A |
G |
X: 47,459,418 (GRCm39) |
T425A |
probably damaging |
Het |
Btd |
G |
A |
14: 31,363,093 (GRCm39) |
|
probably null |
Het |
Cfap251 |
A |
C |
5: 123,392,331 (GRCm39) |
|
probably benign |
Het |
Cfap74 |
T |
A |
4: 155,540,166 (GRCm39) |
|
probably benign |
Het |
Cnot8 |
G |
A |
11: 58,006,136 (GRCm39) |
G222R |
probably damaging |
Het |
Col4a4 |
G |
T |
1: 82,510,657 (GRCm39) |
A205E |
unknown |
Het |
Cwf19l1 |
T |
C |
19: 44,119,911 (GRCm39) |
T77A |
probably benign |
Het |
Cyp2b9 |
A |
G |
7: 25,886,132 (GRCm39) |
T100A |
probably benign |
Het |
Ddx24 |
A |
G |
12: 103,383,996 (GRCm39) |
L485P |
probably damaging |
Het |
Dnah9 |
A |
T |
11: 65,986,241 (GRCm39) |
L1131* |
probably null |
Het |
Dnase1l3 |
T |
A |
14: 7,968,089 (GRCm38) |
E272V |
possibly damaging |
Het |
Dscc1 |
G |
A |
15: 54,946,820 (GRCm39) |
R302* |
probably null |
Het |
Elk3 |
T |
C |
10: 93,120,689 (GRCm39) |
N50S |
probably damaging |
Het |
Fmo3 |
A |
T |
1: 162,794,527 (GRCm39) |
I181K |
probably benign |
Het |
Golga3 |
T |
C |
5: 110,349,734 (GRCm39) |
I655T |
probably damaging |
Het |
Hspa1l |
A |
T |
17: 35,196,164 (GRCm39) |
T68S |
probably benign |
Het |
Itgax |
C |
T |
7: 127,741,505 (GRCm39) |
R839W |
probably damaging |
Het |
Itk |
A |
G |
11: 46,229,044 (GRCm39) |
F379L |
probably damaging |
Het |
Kif7 |
C |
A |
7: 79,348,441 (GRCm39) |
R1300L |
probably benign |
Het |
Klkb1 |
A |
T |
8: 45,742,149 (GRCm39) |
D43E |
possibly damaging |
Het |
Kmt5b |
C |
T |
19: 3,857,266 (GRCm39) |
A318V |
probably benign |
Het |
Krt78 |
T |
C |
15: 101,855,069 (GRCm39) |
Y914C |
probably benign |
Het |
Lactb2 |
T |
C |
1: 13,730,563 (GRCm39) |
T38A |
possibly damaging |
Het |
Lmbr1l |
A |
C |
15: 98,805,418 (GRCm39) |
F361C |
possibly damaging |
Het |
Magi1 |
T |
C |
6: 93,722,891 (GRCm39) |
D329G |
probably damaging |
Het |
Map3k5 |
T |
A |
10: 19,986,603 (GRCm39) |
V939E |
probably benign |
Het |
Mcm8 |
C |
T |
2: 132,666,658 (GRCm39) |
A233V |
probably benign |
Het |
Mcur1 |
C |
T |
13: 43,703,013 (GRCm39) |
V241M |
possibly damaging |
Het |
Mical2 |
G |
T |
7: 111,919,941 (GRCm39) |
|
probably null |
Het |
Nudt13 |
A |
G |
14: 20,361,581 (GRCm39) |
E219G |
probably damaging |
Het |
Or4c107 |
A |
G |
2: 88,789,380 (GRCm39) |
N190S |
probably benign |
Het |
Or52d3 |
A |
T |
7: 104,229,141 (GRCm39) |
H96L |
probably benign |
Het |
Or6b1 |
A |
G |
6: 42,814,983 (GRCm39) |
H56R |
probably benign |
Het |
Osbpl7 |
A |
C |
11: 96,950,004 (GRCm39) |
D395A |
probably benign |
Het |
Osbpl9 |
A |
G |
4: 108,923,415 (GRCm39) |
C495R |
probably damaging |
Het |
Pcdhac1 |
T |
C |
18: 37,224,381 (GRCm39) |
L398P |
probably benign |
Het |
Pcnx4 |
T |
A |
12: 72,603,037 (GRCm39) |
F433Y |
probably damaging |
Het |
Pdp1 |
G |
A |
4: 11,961,838 (GRCm39) |
P158S |
probably damaging |
Het |
Pkd1l3 |
A |
C |
8: 110,397,353 (GRCm39) |
*2152C |
probably null |
Het |
Plcxd3 |
G |
T |
15: 4,604,245 (GRCm39) |
K284N |
probably benign |
Het |
Ptbp1 |
T |
C |
10: 79,695,511 (GRCm39) |
Y187H |
probably damaging |
Het |
Resp18 |
T |
C |
1: 75,248,955 (GRCm39) |
*176W |
probably null |
Het |
Rps6ka2 |
A |
C |
17: 7,566,738 (GRCm39) |
Q665H |
possibly damaging |
Het |
Rtn1 |
T |
C |
12: 72,351,052 (GRCm39) |
T386A |
probably benign |
Het |
Samt2 |
A |
T |
X: 153,358,223 (GRCm39) |
|
probably null |
Het |
Scn1a |
T |
C |
2: 66,104,187 (GRCm39) |
N1663S |
probably damaging |
Het |
Smyd1 |
A |
T |
6: 71,216,537 (GRCm39) |
I70N |
probably damaging |
Het |
Tas2r105 |
T |
C |
6: 131,664,410 (GRCm39) |
E6G |
probably damaging |
Het |
Tchh |
G |
T |
3: 93,352,936 (GRCm39) |
R792L |
unknown |
Het |
Tenm3 |
C |
T |
8: 48,729,693 (GRCm39) |
D1438N |
possibly damaging |
Het |
Tmem184b |
A |
G |
15: 79,250,143 (GRCm39) |
Y211H |
possibly damaging |
Het |
Top3a |
C |
A |
11: 60,638,842 (GRCm39) |
G551V |
possibly damaging |
Het |
Vmn1r168 |
A |
T |
7: 23,240,824 (GRCm39) |
N227I |
probably benign |
Het |
Vmn1r203 |
T |
A |
13: 22,709,004 (GRCm39) |
S262T |
possibly damaging |
Het |
Vmn1r204 |
T |
G |
13: 22,740,420 (GRCm39) |
L17R |
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 |
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 |
R6263:Plxnb2
|
UTSW |
15 |
89,046,189 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- GGATGAGCTTGTTGACCTGC -3'
(R):5'- ATGGTTGTCATCGCTGAGCC -3'
Sequencing Primer
(F):5'- GACCTGCTTTTTGACGCCAC -3'
(R):5'- GTCATCGCTGAGCCCTTGC -3'
|
Posted On |
2014-11-12 |