Incidental Mutation 'R1702:Plxnb2'
ID |
189834 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plxnb2
|
Ensembl Gene |
ENSMUSG00000036606 |
Gene Name |
plexin B2 |
Synonyms |
1110007H23Rik, Debt |
MMRRC Submission |
039735-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.938)
|
Stock # |
R1702 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
89039752-89064960 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 89046187 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060808]
[ENSMUST00000109331]
|
AlphaFold |
B2RXS4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000060808
|
SMART Domains |
Protein: ENSMUSP00000051731 Gene: ENSMUSG00000036606
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 null
Transcript: ENSMUST00000109331
|
SMART Domains |
Protein: ENSMUSP00000104955 Gene: ENSMUSG00000036606
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.5%
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
T |
C |
7: 119,981,925 (GRCm39) |
V1080A |
probably benign |
Het |
Abcg4 |
A |
C |
9: 44,186,370 (GRCm39) |
V553G |
probably damaging |
Het |
Ache |
T |
C |
5: 137,289,251 (GRCm39) |
V319A |
possibly damaging |
Het |
Acsm2 |
T |
A |
7: 119,172,787 (GRCm39) |
M134K |
possibly damaging |
Het |
Ank2 |
A |
T |
3: 126,749,548 (GRCm39) |
S494T |
probably benign |
Het |
Asic3 |
A |
T |
5: 24,620,454 (GRCm39) |
T202S |
probably damaging |
Het |
Baiap3 |
T |
A |
17: 25,463,779 (GRCm39) |
H886L |
probably damaging |
Het |
Bltp2 |
T |
A |
11: 78,179,854 (GRCm39) |
C2126S |
probably damaging |
Het |
Cidea |
T |
A |
18: 67,499,491 (GRCm39) |
I126K |
probably damaging |
Het |
Cmklr1 |
T |
G |
5: 113,751,903 (GRCm39) |
K366T |
probably benign |
Het |
Cntrl |
A |
T |
2: 35,061,848 (GRCm39) |
|
probably null |
Het |
Crhr2 |
A |
G |
6: 55,069,520 (GRCm39) |
F378S |
probably damaging |
Het |
Deaf1 |
C |
G |
7: 140,894,867 (GRCm39) |
R303T |
probably damaging |
Het |
Dnah9 |
T |
A |
11: 65,976,021 (GRCm39) |
N1343Y |
possibly damaging |
Het |
Dop1b |
A |
G |
16: 93,544,509 (GRCm39) |
K99E |
possibly damaging |
Het |
Dpp4 |
A |
T |
2: 62,216,773 (GRCm39) |
|
probably null |
Het |
Dst |
T |
C |
1: 34,206,421 (GRCm39) |
V598A |
probably damaging |
Het |
Ece2 |
C |
T |
16: 20,449,996 (GRCm39) |
R136C |
probably damaging |
Het |
Efcab3 |
C |
T |
11: 104,581,832 (GRCm39) |
P58L |
probably benign |
Het |
Egf |
C |
A |
3: 129,484,460 (GRCm39) |
V453L |
probably benign |
Het |
Egr3 |
T |
A |
14: 70,317,216 (GRCm39) |
F342L |
probably damaging |
Het |
Eif2ak2 |
A |
T |
17: 79,164,063 (GRCm39) |
I434N |
probably damaging |
Het |
Emc1 |
A |
G |
4: 139,102,512 (GRCm39) |
T936A |
probably damaging |
Het |
Fmod |
A |
T |
1: 133,968,500 (GRCm39) |
E180V |
probably damaging |
Het |
Gabrg3 |
T |
C |
7: 56,634,848 (GRCm39) |
T112A |
probably damaging |
Het |
Gak |
T |
C |
5: 108,754,242 (GRCm39) |
|
probably null |
Het |
Gas2 |
T |
A |
7: 51,603,089 (GRCm39) |
|
probably null |
Het |
Gm2381 |
T |
A |
7: 42,469,655 (GRCm39) |
Q156H |
probably benign |
Het |
Golga2 |
T |
A |
2: 32,189,287 (GRCm39) |
S273T |
probably damaging |
Het |
Homez |
T |
A |
14: 55,094,452 (GRCm39) |
T419S |
probably damaging |
Het |
Igfbp6 |
T |
A |
15: 102,056,617 (GRCm39) |
Y184* |
probably null |
Het |
Il11 |
A |
G |
7: 4,776,733 (GRCm39) |
S86P |
probably damaging |
Het |
Itgal |
A |
G |
7: 126,904,197 (GRCm39) |
N270S |
probably benign |
Het |
Lama2 |
T |
C |
10: 27,066,525 (GRCm39) |
R1119G |
probably benign |
Het |
Lamp3 |
G |
T |
16: 19,494,822 (GRCm39) |
N294K |
probably benign |
Het |
Mars1 |
T |
C |
10: 127,145,948 (GRCm39) |
I113M |
possibly damaging |
Het |
Mgat5b |
A |
G |
11: 116,839,485 (GRCm39) |
T334A |
possibly damaging |
Het |
Mis18bp1 |
A |
G |
12: 65,208,518 (GRCm39) |
I65T |
probably benign |
Het |
Mmrn2 |
A |
T |
14: 34,119,871 (GRCm39) |
N247I |
probably benign |
Het |
Muc6 |
G |
T |
7: 141,236,752 (GRCm39) |
N322K |
probably damaging |
Het |
Mx2 |
A |
G |
16: 97,359,883 (GRCm39) |
H551R |
probably benign |
Het |
Mylk |
T |
A |
16: 34,742,314 (GRCm39) |
V942E |
probably benign |
Het |
Nes |
A |
G |
3: 87,883,286 (GRCm39) |
E515G |
probably benign |
Het |
Nfatc3 |
T |
G |
8: 106,818,792 (GRCm39) |
S503R |
probably damaging |
Het |
Nkain3 |
C |
A |
4: 20,158,339 (GRCm39) |
|
probably null |
Het |
Noxa1 |
A |
G |
2: 24,982,596 (GRCm39) |
V73A |
probably damaging |
Het |
Nup160 |
A |
T |
2: 90,514,302 (GRCm39) |
E83D |
probably damaging |
Het |
Or12j3 |
A |
T |
7: 139,952,655 (GRCm39) |
Y289* |
probably null |
Het |
Or4z4 |
C |
A |
19: 12,076,530 (GRCm39) |
V158L |
probably benign |
Het |
Or5ac23 |
C |
A |
16: 59,149,504 (GRCm39) |
V123L |
probably benign |
Het |
Or8b56 |
A |
G |
9: 38,739,839 (GRCm39) |
Y284C |
probably damaging |
Het |
Rundc3b |
A |
G |
5: 8,562,318 (GRCm39) |
V350A |
probably benign |
Het |
Scn1a |
C |
T |
2: 66,148,567 (GRCm39) |
D993N |
probably damaging |
Het |
Sec24c |
G |
T |
14: 20,736,641 (GRCm39) |
G226V |
probably null |
Het |
Septin11 |
T |
A |
5: 93,304,783 (GRCm39) |
I200N |
probably damaging |
Het |
Shank3 |
G |
T |
15: 89,384,099 (GRCm39) |
G14C |
probably damaging |
Het |
Skic3 |
A |
G |
13: 76,270,862 (GRCm39) |
K153R |
possibly damaging |
Het |
Slc25a39 |
T |
C |
11: 102,297,452 (GRCm39) |
D5G |
possibly damaging |
Het |
Stoml3 |
A |
T |
3: 53,412,852 (GRCm39) |
T169S |
probably benign |
Het |
Taf1b |
T |
A |
12: 24,559,125 (GRCm39) |
I83K |
possibly damaging |
Het |
Tarbp1 |
T |
A |
8: 127,154,957 (GRCm39) |
Q1389L |
probably damaging |
Het |
Thbs1 |
T |
A |
2: 117,943,923 (GRCm39) |
D180E |
probably benign |
Het |
Tmc5 |
T |
A |
7: 118,271,462 (GRCm39) |
V925D |
probably benign |
Het |
Tmem62 |
T |
C |
2: 120,809,708 (GRCm39) |
V130A |
probably damaging |
Het |
Tpp2 |
C |
T |
1: 44,029,708 (GRCm39) |
P997L |
probably damaging |
Het |
Trip12 |
A |
T |
1: 84,722,784 (GRCm39) |
I127N |
probably damaging |
Het |
Upp2 |
T |
C |
2: 58,661,562 (GRCm39) |
F142L |
possibly damaging |
Het |
Usf3 |
C |
T |
16: 44,039,995 (GRCm39) |
Q1492* |
probably null |
Het |
Vcp |
T |
C |
4: 42,990,840 (GRCm39) |
D205G |
probably damaging |
Het |
Vmn1r180 |
G |
A |
7: 23,652,394 (GRCm39) |
V186I |
possibly damaging |
Het |
Washc2 |
T |
C |
6: 116,206,267 (GRCm39) |
S496P |
probably damaging |
Het |
Wee2 |
T |
C |
6: 40,441,135 (GRCm39) |
I480T |
probably benign |
Het |
Xylt2 |
T |
A |
11: 94,559,571 (GRCm39) |
H357L |
probably damaging |
Het |
Zbed4 |
T |
C |
15: 88,665,056 (GRCm39) |
S375P |
probably damaging |
Het |
Zfp442 |
A |
T |
2: 150,251,100 (GRCm39) |
Y266* |
probably null |
Het |
Zfp600 |
A |
G |
4: 146,133,497 (GRCm39) |
T722A |
probably benign |
Het |
Zfp976 |
T |
A |
7: 42,265,424 (GRCm39) |
H55L |
possibly 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 |
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 |
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'- TGGAGCCAACTGTTGACCTGTG -3'
(R):5'- CAAGTAAGTGCCTGACTGAGCTGTG -3'
Sequencing Primer
(F):5'- TGACCTGTGACACACTGTAGC -3'
(R):5'- CAGCAAGTTGGCATCTAACG -3'
|
Posted On |
2014-05-14 |