Incidental Mutation 'R5813:Plxnb2'
ID |
447648 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plxnb2
|
Ensembl Gene |
ENSMUSG00000036606 |
Gene Name |
plexin B2 |
Synonyms |
1110007H23Rik, Debt |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.938)
|
Stock # |
R5813 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
89039752-89064960 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 89044962 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 1128
(T1128A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051731
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060808]
[ENSMUST00000109331]
|
AlphaFold |
B2RXS4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060808
AA Change: T1128A
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000051731 Gene: ENSMUSG00000036606 AA Change: T1128A
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: T1128A
PolyPhen 2
Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000104955 Gene: ENSMUSG00000036606 AA Change: T1128A
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam15 |
A |
G |
3: 89,253,135 (GRCm39) |
Y230H |
probably benign |
Het |
Ano7 |
G |
T |
1: 93,312,641 (GRCm39) |
|
probably null |
Het |
Arap2 |
T |
C |
5: 62,834,506 (GRCm39) |
Y792C |
probably damaging |
Het |
Art3 |
C |
A |
5: 92,560,100 (GRCm39) |
|
probably benign |
Het |
Atad2 |
C |
T |
15: 57,963,250 (GRCm39) |
G1085D |
probably benign |
Het |
Birc6 |
C |
A |
17: 74,953,497 (GRCm39) |
A3253E |
probably damaging |
Het |
C9 |
C |
T |
15: 6,526,607 (GRCm39) |
P547L |
probably benign |
Het |
Cecr2 |
T |
C |
6: 120,739,169 (GRCm39) |
S1271P |
probably damaging |
Het |
Ces1e |
T |
A |
8: 93,948,305 (GRCm39) |
K105* |
probably null |
Het |
Cpsf4 |
A |
G |
5: 145,115,683 (GRCm39) |
N204S |
probably benign |
Het |
Cracd |
A |
G |
5: 77,006,275 (GRCm39) |
T879A |
unknown |
Het |
Dgkz |
T |
C |
2: 91,769,733 (GRCm39) |
D615G |
possibly damaging |
Het |
Disp1 |
G |
T |
1: 182,869,974 (GRCm39) |
N815K |
probably damaging |
Het |
Enah |
A |
G |
1: 181,758,750 (GRCm39) |
|
probably benign |
Het |
Fcgbp |
A |
G |
7: 27,800,919 (GRCm39) |
T1322A |
possibly damaging |
Het |
Frem1 |
A |
G |
4: 82,918,395 (GRCm39) |
F516L |
probably damaging |
Het |
Fry |
G |
A |
5: 150,323,136 (GRCm39) |
A1096T |
probably damaging |
Het |
Fyco1 |
T |
C |
9: 123,660,413 (GRCm39) |
Y190C |
probably damaging |
Het |
Gfra1 |
T |
C |
19: 58,227,687 (GRCm39) |
D417G |
probably benign |
Het |
Gigyf2 |
T |
C |
1: 87,368,485 (GRCm39) |
I1055T |
probably damaging |
Het |
Invs |
A |
G |
4: 48,398,146 (GRCm39) |
E444G |
probably damaging |
Het |
Itga10 |
A |
G |
3: 96,559,901 (GRCm39) |
T519A |
probably benign |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Kdm2b |
A |
G |
5: 123,009,931 (GRCm39) |
S727P |
probably benign |
Het |
Kidins220 |
A |
T |
12: 25,107,139 (GRCm39) |
K1531* |
probably null |
Het |
Ksr1 |
C |
T |
11: 78,929,024 (GRCm39) |
V266M |
probably damaging |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Lipi |
T |
C |
16: 75,370,798 (GRCm39) |
R140G |
possibly damaging |
Het |
Lrrc32 |
T |
C |
7: 98,147,618 (GRCm39) |
S133P |
probably damaging |
Het |
Map3k7 |
T |
A |
4: 31,964,318 (GRCm39) |
I19N |
probably damaging |
Het |
Marf1 |
A |
G |
16: 13,970,449 (GRCm39) |
V90A |
probably benign |
Het |
Mark3 |
T |
C |
12: 111,621,877 (GRCm39) |
L673P |
probably damaging |
Het |
Meis1 |
T |
C |
11: 18,966,229 (GRCm39) |
H48R |
probably benign |
Het |
Mettl26 |
G |
A |
17: 26,094,995 (GRCm39) |
V87M |
probably damaging |
Het |
Mknk2 |
T |
C |
10: 80,511,696 (GRCm39) |
R5G |
probably benign |
Het |
Mtcl3 |
G |
T |
10: 29,026,240 (GRCm39) |
V441F |
probably damaging |
Het |
Mterf1b |
T |
C |
5: 4,246,956 (GRCm39) |
V199A |
possibly damaging |
Het |
Ncs1 |
T |
A |
2: 31,170,666 (GRCm39) |
|
probably null |
Het |
Nek10 |
T |
C |
14: 14,986,704 (GRCm38) |
V1014A |
probably benign |
Het |
Notch2 |
A |
G |
3: 98,042,744 (GRCm39) |
N1370D |
probably benign |
Het |
Nr2e3 |
TCCATCGGAGTGTTCCC |
TC |
9: 59,850,701 (GRCm39) |
|
probably benign |
Het |
Opn5 |
C |
G |
17: 42,903,897 (GRCm39) |
R146T |
probably damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or5m3 |
T |
C |
2: 85,838,636 (GRCm39) |
I172T |
probably damaging |
Het |
Or8b55 |
T |
A |
9: 38,726,952 (GRCm39) |
M51K |
probably benign |
Het |
Or8g33 |
A |
G |
9: 39,338,032 (GRCm39) |
C112R |
probably damaging |
Het |
Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
Pcyox1l |
C |
T |
18: 61,832,359 (GRCm39) |
|
probably null |
Het |
Prex1 |
T |
C |
2: 166,425,127 (GRCm39) |
T960A |
probably benign |
Het |
Prkaa2 |
A |
C |
4: 104,893,291 (GRCm39) |
*553G |
probably null |
Het |
Rasgrp4 |
A |
G |
7: 28,844,639 (GRCm39) |
D297G |
probably damaging |
Het |
Sdf4 |
G |
A |
4: 156,083,856 (GRCm39) |
V109I |
probably benign |
Het |
Serpinb3d |
T |
C |
1: 107,007,027 (GRCm39) |
K227R |
probably benign |
Het |
Sgsm1 |
A |
T |
5: 113,398,822 (GRCm39) |
I750N |
probably damaging |
Het |
Shtn1 |
T |
A |
19: 59,020,673 (GRCm39) |
K183M |
probably damaging |
Het |
Skic3 |
A |
G |
13: 76,303,852 (GRCm39) |
T1257A |
probably benign |
Het |
Slc22a30 |
T |
C |
19: 8,381,945 (GRCm39) |
T109A |
probably benign |
Het |
Slco1c1 |
A |
G |
6: 141,487,929 (GRCm39) |
D99G |
probably damaging |
Het |
Tcf25 |
T |
A |
8: 124,122,354 (GRCm39) |
|
probably null |
Het |
Tex10 |
A |
G |
4: 48,452,928 (GRCm39) |
V677A |
probably benign |
Het |
Tmem131l |
A |
G |
3: 83,847,879 (GRCm39) |
S329P |
probably benign |
Het |
Trappc10 |
T |
A |
10: 78,058,573 (GRCm39) |
N136I |
probably damaging |
Het |
Trpt1 |
T |
C |
19: 6,975,906 (GRCm39) |
F173L |
probably benign |
Het |
Ube4b |
G |
A |
4: 149,421,925 (GRCm39) |
R955C |
probably damaging |
Het |
Usp34 |
C |
A |
11: 23,371,340 (GRCm39) |
P1840T |
probably benign |
Het |
Vmn1r27 |
A |
T |
6: 58,192,985 (GRCm39) |
N6K |
possibly damaging |
Het |
Wdr25 |
T |
C |
12: 108,993,347 (GRCm39) |
V521A |
possibly damaging |
Het |
Wdr64 |
G |
A |
1: 175,639,623 (GRCm39) |
E1031K |
possibly damaging |
Het |
Wnt10a |
A |
G |
1: 74,839,755 (GRCm39) |
N147S |
probably damaging |
Het |
Zbed5 |
T |
C |
5: 129,931,059 (GRCm39) |
I336T |
possibly damaging |
Het |
Zfp758 |
T |
A |
17: 22,594,796 (GRCm39) |
H427Q |
probably damaging |
Het |
Zfp961 |
C |
A |
8: 72,722,070 (GRCm39) |
H194Q |
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 |
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'- TTCACCTGTGTGGAAGCTAGGG -3'
(R):5'- TTGAGAACTTCACGGGTGGC -3'
Sequencing Primer
(F):5'- TTCTCCTGAGAGGCTCCCCAG -3'
(R):5'- CTTCACGGGTGGCGTCAAAAAG -3'
|
Posted On |
2016-12-15 |