Incidental Mutation 'R2072:Plxnb2'
ID |
227268 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plxnb2
|
Ensembl Gene |
ENSMUSG00000036606 |
Gene Name |
plexin B2 |
Synonyms |
1110007H23Rik, Debt |
MMRRC Submission |
040077-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.938)
|
Stock # |
R2072 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
89039752-89064960 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 89042654 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 1545
(R1545S)
|
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: R1545S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000051731 Gene: ENSMUSG00000036606 AA Change: R1545S
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: R1545S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104955 Gene: ENSMUSG00000036606 AA Change: R1545S
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: 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: 97.4%
- 20x: 95.3%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
C |
5: 64,056,080 (GRCm39) |
R272P |
possibly damaging |
Het |
Ablim3 |
A |
T |
18: 61,990,159 (GRCm39) |
D83E |
possibly damaging |
Het |
Aco1 |
G |
A |
4: 40,183,605 (GRCm39) |
G508S |
probably damaging |
Het |
Adamts13 |
C |
A |
2: 26,895,437 (GRCm39) |
T1176N |
probably benign |
Het |
Adgre5 |
T |
C |
8: 84,454,433 (GRCm39) |
T357A |
probably benign |
Het |
Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
Ankrd33 |
T |
C |
15: 101,017,517 (GRCm39) |
V310A |
probably benign |
Het |
Armh3 |
A |
T |
19: 45,953,820 (GRCm39) |
I188K |
probably damaging |
Het |
Bnipl |
C |
T |
3: 95,151,522 (GRCm39) |
G232E |
probably damaging |
Het |
Btbd17 |
A |
T |
11: 114,682,778 (GRCm39) |
|
probably null |
Het |
Cacna1s |
G |
A |
1: 136,007,242 (GRCm39) |
V173I |
probably benign |
Het |
Ccdc122 |
T |
C |
14: 77,306,391 (GRCm39) |
|
probably null |
Het |
Ces1a |
T |
A |
8: 93,774,703 (GRCm39) |
N12Y |
probably benign |
Het |
Chrdl1 |
T |
C |
X: 142,086,414 (GRCm39) |
I231V |
probably benign |
Het |
Ciita |
C |
T |
16: 10,336,217 (GRCm39) |
T958I |
probably benign |
Het |
Cnot1 |
G |
T |
8: 96,466,461 (GRCm39) |
T1592K |
possibly damaging |
Het |
Dcaf15 |
T |
C |
8: 84,828,370 (GRCm39) |
D240G |
probably damaging |
Het |
Dlgap1 |
C |
T |
17: 70,969,765 (GRCm39) |
R524C |
probably damaging |
Het |
Dmd |
G |
C |
X: 83,356,089 (GRCm39) |
A2257P |
probably benign |
Het |
Dsg1c |
A |
G |
18: 20,408,309 (GRCm39) |
M453V |
probably benign |
Het |
Ednrb |
G |
T |
14: 104,054,535 (GRCm39) |
N432K |
probably benign |
Het |
Fcgbp |
G |
A |
7: 27,819,814 (GRCm39) |
G2514S |
probably damaging |
Het |
Fez1 |
A |
G |
9: 36,779,241 (GRCm39) |
K306R |
probably benign |
Het |
Fmo4 |
A |
G |
1: 162,637,456 (GRCm39) |
V12A |
probably benign |
Het |
Fpgt |
T |
C |
3: 154,793,511 (GRCm39) |
Y172C |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,839,159 (GRCm39) |
F6976I |
possibly damaging |
Het |
Galnt12 |
C |
T |
4: 47,108,477 (GRCm39) |
R205* |
probably null |
Het |
Grik5 |
A |
T |
7: 24,714,738 (GRCm39) |
M752K |
possibly damaging |
Het |
Herc2 |
A |
G |
7: 55,876,712 (GRCm39) |
N4516S |
probably damaging |
Het |
Ifrd2 |
A |
T |
9: 107,469,744 (GRCm39) |
D439V |
probably damaging |
Het |
Igsf3 |
A |
G |
3: 101,346,831 (GRCm39) |
T609A |
probably benign |
Het |
Kif5a |
T |
C |
10: 127,081,238 (GRCm39) |
D232G |
probably damaging |
Het |
Lgi2 |
A |
G |
5: 52,695,847 (GRCm39) |
S371P |
probably damaging |
Het |
Marchf3 |
A |
T |
18: 56,944,925 (GRCm39) |
V56E |
possibly damaging |
Het |
Mib2 |
T |
C |
4: 155,744,158 (GRCm39) |
D168G |
probably damaging |
Het |
Nhs |
T |
A |
X: 160,625,717 (GRCm39) |
H544L |
probably damaging |
Het |
Nlrp2 |
A |
G |
7: 5,328,005 (GRCm39) |
S683P |
probably damaging |
Het |
Onecut3 |
T |
G |
10: 80,330,848 (GRCm39) |
L3V |
unknown |
Het |
Or12j2 |
T |
C |
7: 139,916,566 (GRCm39) |
S264P |
possibly damaging |
Het |
Or4c35 |
C |
A |
2: 89,808,557 (GRCm39) |
T145K |
probably benign |
Het |
Or5b102 |
A |
T |
19: 13,041,044 (GRCm39) |
M90L |
probably benign |
Het |
Otogl |
C |
T |
10: 107,616,904 (GRCm39) |
C1791Y |
probably damaging |
Het |
Paip1 |
T |
C |
13: 119,566,798 (GRCm39) |
V128A |
possibly damaging |
Het |
Pcnx2 |
A |
T |
8: 126,488,481 (GRCm39) |
C1688S |
possibly damaging |
Het |
Pdzd2 |
A |
G |
15: 12,385,905 (GRCm39) |
L955P |
probably damaging |
Het |
Phlpp2 |
T |
C |
8: 110,655,124 (GRCm39) |
S605P |
possibly damaging |
Het |
Pkhd1l1 |
G |
T |
15: 44,422,035 (GRCm39) |
A3102S |
probably damaging |
Het |
Ppp4c |
T |
C |
7: 126,386,520 (GRCm39) |
|
probably null |
Het |
Prune1 |
C |
T |
3: 95,162,719 (GRCm39) |
R318Q |
probably benign |
Het |
Psg27 |
T |
C |
7: 18,294,342 (GRCm39) |
D355G |
probably damaging |
Het |
Psg27 |
A |
G |
7: 18,298,934 (GRCm39) |
L129P |
probably benign |
Het |
Psmc6 |
A |
G |
14: 45,567,323 (GRCm39) |
K7E |
possibly damaging |
Het |
Reln |
A |
T |
5: 22,124,175 (GRCm39) |
V2777E |
probably damaging |
Het |
Rigi |
A |
T |
4: 40,224,069 (GRCm39) |
|
probably null |
Het |
Scn11a |
G |
T |
9: 119,640,274 (GRCm39) |
A207E |
possibly damaging |
Het |
Slc5a5 |
C |
T |
8: 71,345,083 (GRCm39) |
G75R |
possibly damaging |
Het |
Smarcd2 |
A |
T |
11: 106,156,133 (GRCm39) |
L42* |
probably null |
Het |
Smg1 |
T |
C |
7: 117,762,389 (GRCm39) |
|
probably benign |
Het |
Smurf2 |
T |
A |
11: 106,732,595 (GRCm39) |
Q335L |
probably benign |
Het |
Sspo |
A |
T |
6: 48,450,451 (GRCm39) |
H2580L |
probably benign |
Het |
Stk3 |
T |
C |
15: 34,959,195 (GRCm39) |
M256V |
possibly damaging |
Het |
Syt1 |
A |
G |
10: 108,419,833 (GRCm39) |
I276T |
probably damaging |
Het |
Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
Taar9 |
A |
T |
10: 23,984,877 (GRCm39) |
C186S |
probably damaging |
Het |
Tnrc6b |
C |
T |
15: 80,767,166 (GRCm39) |
P977L |
possibly damaging |
Het |
Trp53bp2 |
A |
G |
1: 182,286,432 (GRCm39) |
T1091A |
probably benign |
Het |
Ttn |
G |
T |
2: 76,768,120 (GRCm39) |
T2947N |
probably damaging |
Het |
Ube2q1 |
T |
C |
3: 89,686,878 (GRCm39) |
|
probably null |
Het |
Ube3c |
A |
G |
5: 29,840,638 (GRCm39) |
E671G |
probably benign |
Het |
Upf3a |
A |
G |
8: 13,835,850 (GRCm39) |
K56R |
possibly damaging |
Het |
Vmn2r15 |
A |
T |
5: 109,434,619 (GRCm39) |
M695K |
possibly damaging |
Het |
Vmn2r3 |
A |
T |
3: 64,182,493 (GRCm39) |
M402K |
possibly damaging |
Het |
Zfp354b |
T |
A |
11: 50,813,279 (GRCm39) |
R549* |
probably null |
Het |
Zfp37 |
A |
T |
4: 62,109,945 (GRCm39) |
M411K |
probably damaging |
Het |
Zfp747 |
T |
A |
7: 126,973,142 (GRCm39) |
T343S |
possibly damaging |
Het |
Zfp853 |
T |
A |
5: 143,275,137 (GRCm39) |
Q161L |
unknown |
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 |
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'- AGCATAGACTTACGCTCCCC -3'
(R):5'- AGTTCCACTTGTTCGTGAGGC -3'
Sequencing Primer
(F):5'- ACTTACGCTCCCCTGGCAAG -3'
(R):5'- TGTTCGTGAGGCCCCGTG -3'
|
Posted On |
2014-09-17 |