Incidental Mutation 'R6269:Plxnb2'
| ID |
507249 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plxnb2
|
| Ensembl Gene |
ENSMUSG00000036606 |
| Gene Name |
plexin B2 |
| Synonyms |
Debt, 1110007H23Rik |
| MMRRC Submission |
044440-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R6269 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
89155549-89180788 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89160713 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 1143
(M1143T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060808]
[ENSMUST00000109331]
|
| AlphaFold |
B2RXS4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060808
AA Change: M1143T
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606
AA Change: M1143T
| 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 benign
Transcript: ENSMUST00000109331
AA Change: M1143T
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606
AA Change: M1143T
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
A |
6: 86,964,051 (GRCm38) |
I609N |
unknown |
Het |
| Ano10 |
A |
T |
9: 122,261,242 (GRCm38) |
I277N |
probably damaging |
Het |
| Ap2b1 |
A |
G |
11: 83,346,673 (GRCm38) |
D483G |
probably damaging |
Het |
| As3mt |
T |
A |
19: 46,719,952 (GRCm38) |
F226Y |
probably damaging |
Het |
| Atp10a |
G |
A |
7: 58,803,739 (GRCm38) |
R855H |
possibly damaging |
Het |
| Bin3 |
T |
A |
14: 70,137,162 (GRCm38) |
H213Q |
probably benign |
Het |
| Bora |
T |
C |
14: 99,073,667 (GRCm38) |
C512R |
probably damaging |
Het |
| Camk2b |
T |
A |
11: 5,978,497 (GRCm38) |
D414V |
probably damaging |
Het |
| Ccdc27 |
A |
T |
4: 154,037,722 (GRCm38) |
L233Q |
unknown |
Het |
| Ccdc73 |
T |
C |
2: 104,907,633 (GRCm38) |
S25P |
probably damaging |
Het |
| Cenpf |
G |
A |
1: 189,659,920 (GRCm38) |
H572Y |
probably benign |
Het |
| Chil4 |
A |
G |
3: 106,204,171 (GRCm38) |
V209A |
probably damaging |
Het |
| Clstn1 |
T |
C |
4: 149,644,067 (GRCm38) |
V650A |
probably benign |
Het |
| Cox6a2 |
T |
A |
7: 128,206,265 (GRCm38) |
S11C |
probably benign |
Het |
| Csf1 |
T |
C |
3: 107,749,001 (GRCm38) |
E238G |
probably benign |
Het |
| Cyp2c23 |
T |
A |
19: 44,029,187 (GRCm38) |
M1L |
unknown |
Het |
| Cyp4a10 |
T |
A |
4: 115,524,312 (GRCm38) |
M191K |
probably damaging |
Het |
| Cyp4a14 |
A |
G |
4: 115,491,131 (GRCm38) |
V383A |
possibly damaging |
Het |
| D130052B06Rik |
T |
G |
11: 33,623,916 (GRCm38) |
V171G |
possibly damaging |
Het |
| Dlgap2 |
A |
G |
8: 14,822,369 (GRCm38) |
T617A |
probably benign |
Het |
| Dyrk4 |
T |
A |
6: 126,886,727 (GRCm38) |
I351F |
probably damaging |
Het |
| Epg5 |
T |
C |
18: 77,948,370 (GRCm38) |
V94A |
probably benign |
Het |
| Fam111a |
A |
G |
19: 12,588,443 (GRCm38) |
T519A |
probably benign |
Het |
| Fam208b |
C |
T |
13: 3,581,891 (GRCm38) |
R870H |
possibly damaging |
Het |
| Gdpd4 |
A |
G |
7: 97,974,462 (GRCm38) |
S314G |
probably damaging |
Het |
| Gm9758 |
T |
A |
5: 14,912,260 (GRCm38) |
K111N |
possibly damaging |
Het |
| Gpr137b |
A |
T |
13: 13,363,511 (GRCm38) |
V285E |
probably damaging |
Het |
| Hyls1 |
G |
A |
9: 35,561,184 (GRCm38) |
S312F |
probably benign |
Het |
| Itgal |
T |
A |
7: 127,330,217 (GRCm38) |
L1102Q |
probably null |
Het |
| Kctd19 |
T |
A |
8: 105,395,360 (GRCm38) |
Y185F |
possibly damaging |
Het |
| Kif5b |
A |
G |
18: 6,223,558 (GRCm38) |
L317P |
possibly damaging |
Het |
| Klhl42 |
C |
A |
6: 147,092,307 (GRCm38) |
A259E |
probably damaging |
Het |
| Lrrc2 |
A |
G |
9: 110,980,949 (GRCm38) |
D351G |
probably damaging |
Het |
| Med12l |
A |
G |
3: 59,227,822 (GRCm38) |
E797G |
probably damaging |
Het |
| Mink1 |
A |
G |
11: 70,598,987 (GRCm38) |
E63G |
probably damaging |
Het |
| Nek9 |
T |
C |
12: 85,332,329 (GRCm38) |
|
probably null |
Het |
| Olfr1120 |
A |
T |
2: 87,846,874 (GRCm38) |
H201L |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,997,037 (GRCm38) |
A91S |
probably damaging |
Het |
| Parp6 |
G |
A |
9: 59,650,012 (GRCm38) |
V627I |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,522,094 (GRCm38) |
Q498* |
probably null |
Het |
| Pdlim5 |
T |
C |
3: 142,312,325 (GRCm38) |
T170A |
possibly damaging |
Het |
| Pgap1 |
A |
T |
1: 54,548,008 (GRCm38) |
Y136* |
probably null |
Het |
| Pgghg |
T |
A |
7: 140,946,184 (GRCm38) |
N563K |
probably damaging |
Het |
| Pnpla1 |
G |
A |
17: 28,881,368 (GRCm38) |
G403E |
probably benign |
Het |
| Prc1 |
G |
A |
7: 80,309,427 (GRCm38) |
R381Q |
probably damaging |
Het |
| Psph |
A |
T |
5: 129,766,465 (GRCm38) |
I175N |
probably damaging |
Het |
| Rbbp8nl |
T |
A |
2: 180,281,512 (GRCm38) |
K131* |
probably null |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,579,906 (GRCm38) |
|
probably benign |
Homo |
| Sde2 |
G |
A |
1: 180,855,806 (GRCm38) |
V42I |
probably benign |
Het |
| Slc25a3 |
G |
A |
10: 91,117,101 (GRCm38) |
R314* |
probably null |
Het |
| Spag9 |
A |
G |
11: 94,044,507 (GRCm38) |
N48S |
probably benign |
Het |
| Srp54b |
T |
C |
12: 55,255,972 (GRCm38) |
M351T |
possibly damaging |
Het |
| Tcaf2 |
A |
G |
6: 42,627,408 (GRCm38) |
L679P |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,880,743 (GRCm38) |
N815K |
probably benign |
Het |
| Usp17la |
A |
T |
7: 104,860,350 (GRCm38) |
Q54L |
possibly damaging |
Het |
| Vmn2r92 |
T |
A |
17: 18,166,774 (GRCm38) |
I125K |
probably benign |
Het |
| Xrra1 |
T |
C |
7: 99,917,472 (GRCm38) |
Y732H |
probably damaging |
Het |
| Zfp131 |
A |
G |
13: 119,766,405 (GRCm38) |
S603P |
possibly damaging |
Het |
| Zfp28 |
G |
T |
7: 6,393,613 (GRCm38) |
S349I |
probably benign |
Het |
|
| Other mutations in Plxnb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00546:Plxnb2
|
APN |
15 |
89,162,366 (GRCm38) |
splice site |
probably benign |
|
|
IGL01574:Plxnb2
|
APN |
15 |
89,162,683 (GRCm38) |
splice site |
probably null |
|
|
IGL01695:Plxnb2
|
APN |
15 |
89,157,214 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
IGL01763:Plxnb2
|
APN |
15 |
89,161,981 (GRCm38) |
splice site |
probably null |
|
|
IGL01921:Plxnb2
|
APN |
15 |
89,164,271 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
IGL02129:Plxnb2
|
APN |
15 |
89,160,410 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02153:Plxnb2
|
APN |
15 |
89,165,813 (GRCm38) |
nonsense |
probably null |
|
|
IGL02637:Plxnb2
|
APN |
15 |
89,164,057 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
IGL02892:Plxnb2
|
APN |
15 |
89,161,222 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03108:Plxnb2
|
APN |
15 |
89,158,031 (GRCm38) |
missense |
probably benign |
0.32 |
|
IGL03115:Plxnb2
|
APN |
15 |
89,162,438 (GRCm38) |
splice site |
probably benign |
|
|
P0040:Plxnb2
|
UTSW |
15 |
89,162,935 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0022:Plxnb2
|
UTSW |
15 |
89,163,276 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0095:Plxnb2
|
UTSW |
15 |
89,165,331 (GRCm38) |
missense |
probably benign |
|
|
R0103:Plxnb2
|
UTSW |
15 |
89,161,769 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R0544:Plxnb2
|
UTSW |
15 |
89,158,613 (GRCm38) |
splice site |
probably benign |
|
|
R0671:Plxnb2
|
UTSW |
15 |
89,157,981 (GRCm38) |
missense |
probably benign |
0.14 |
|
R1279:Plxnb2
|
UTSW |
15 |
89,162,321 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1530:Plxnb2
|
UTSW |
15 |
89,167,192 (GRCm38) |
missense |
probably benign |
|
|
R1542:Plxnb2
|
UTSW |
15 |
89,165,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1610:Plxnb2
|
UTSW |
15 |
89,158,493 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1686:Plxnb2
|
UTSW |
15 |
89,162,462 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1702:Plxnb2
|
UTSW |
15 |
89,161,984 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1996:Plxnb2
|
UTSW |
15 |
89,158,768 (GRCm38) |
missense |
probably benign |
0.13 |
|
R1997:Plxnb2
|
UTSW |
15 |
89,158,768 (GRCm38) |
missense |
probably benign |
0.13 |
|
R2031:Plxnb2
|
UTSW |
15 |
89,162,810 (GRCm38) |
nonsense |
probably null |
|
|
R2049:Plxnb2
|
UTSW |
15 |
89,159,002 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2072:Plxnb2
|
UTSW |
15 |
89,158,451 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2076:Plxnb2
|
UTSW |
15 |
89,158,026 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2140:Plxnb2
|
UTSW |
15 |
89,156,562 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2418:Plxnb2
|
UTSW |
15 |
89,161,069 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R2419:Plxnb2
|
UTSW |
15 |
89,161,069 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R3752:Plxnb2
|
UTSW |
15 |
89,157,255 (GRCm38) |
splice site |
probably benign |
|
|
R3825:Plxnb2
|
UTSW |
15 |
89,166,399 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4154:Plxnb2
|
UTSW |
15 |
89,159,642 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4197:Plxnb2
|
UTSW |
15 |
89,157,018 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4385:Plxnb2
|
UTSW |
15 |
89,160,623 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4434:Plxnb2
|
UTSW |
15 |
89,162,803 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4678:Plxnb2
|
UTSW |
15 |
89,160,928 (GRCm38) |
missense |
probably benign |
0.37 |
|
R4717:Plxnb2
|
UTSW |
15 |
89,157,419 (GRCm38) |
nonsense |
probably null |
|
|
R4773:Plxnb2
|
UTSW |
15 |
89,166,947 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4905:Plxnb2
|
UTSW |
15 |
89,157,411 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5368:Plxnb2
|
UTSW |
15 |
89,159,593 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5418:Plxnb2
|
UTSW |
15 |
89,166,491 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5484:Plxnb2
|
UTSW |
15 |
89,164,209 (GRCm38) |
splice site |
probably null |
|
|
R5520:Plxnb2
|
UTSW |
15 |
89,167,543 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R5566:Plxnb2
|
UTSW |
15 |
89,164,020 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5568:Plxnb2
|
UTSW |
15 |
89,157,435 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5619:Plxnb2
|
UTSW |
15 |
89,162,809 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5685:Plxnb2
|
UTSW |
15 |
89,167,032 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5688:Plxnb2
|
UTSW |
15 |
89,158,696 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5809:Plxnb2
|
UTSW |
15 |
89,167,571 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R5813:Plxnb2
|
UTSW |
15 |
89,160,759 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R5866:Plxnb2
|
UTSW |
15 |
89,167,572 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6016:Plxnb2
|
UTSW |
15 |
89,161,022 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R6117:Plxnb2
|
UTSW |
15 |
89,158,000 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6187:Plxnb2
|
UTSW |
15 |
89,167,258 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6260:Plxnb2
|
UTSW |
15 |
89,165,291 (GRCm38) |
missense |
probably benign |
0.22 |
|
R6263:Plxnb2
|
UTSW |
15 |
89,161,986 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6351:Plxnb2
|
UTSW |
15 |
89,157,770 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6522:Plxnb2
|
UTSW |
15 |
89,164,426 (GRCm38) |
missense |
probably benign |
0.18 |
|
R6856:Plxnb2
|
UTSW |
15 |
89,164,320 (GRCm38) |
missense |
probably benign |
0.27 |
|
R6930:Plxnb2
|
UTSW |
15 |
89,160,389 (GRCm38) |
missense |
probably benign |
|
|
R7354:Plxnb2
|
UTSW |
15 |
89,165,725 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7513:Plxnb2
|
UTSW |
15 |
89,158,322 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R7522:Plxnb2
|
UTSW |
15 |
89,161,774 (GRCm38) |
missense |
probably benign |
0.20 |
|
R7730:Plxnb2
|
UTSW |
15 |
89,162,330 (GRCm38) |
missense |
probably benign |
|
|
R7766:Plxnb2
|
UTSW |
15 |
89,161,271 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7781:Plxnb2
|
UTSW |
15 |
89,157,022 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R8126:Plxnb2
|
UTSW |
15 |
89,163,303 (GRCm38) |
missense |
probably benign |
|
|
R8131:Plxnb2
|
UTSW |
15 |
89,158,713 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8372:Plxnb2
|
UTSW |
15 |
89,158,493 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8736:Plxnb2
|
UTSW |
15 |
89,162,058 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8772:Plxnb2
|
UTSW |
15 |
89,162,746 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9022:Plxnb2
|
UTSW |
15 |
89,164,268 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R9044:Plxnb2
|
UTSW |
15 |
89,160,363 (GRCm38) |
splice site |
probably benign |
|
|
R9253:Plxnb2
|
UTSW |
15 |
89,167,812 (GRCm38) |
missense |
probably benign |
|
|
R9398:Plxnb2
|
UTSW |
15 |
89,160,919 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9562:Plxnb2
|
UTSW |
15 |
89,165,933 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9568:Plxnb2
|
UTSW |
15 |
89,160,957 (GRCm38) |
nonsense |
probably null |
|
|
R9613:Plxnb2
|
UTSW |
15 |
89,164,293 (GRCm38) |
missense |
probably benign |
0.01 |
|
X0027:Plxnb2
|
UTSW |
15 |
89,160,713 (GRCm38) |
missense |
probably benign |
0.18 |
|
Z1177:Plxnb2
|
UTSW |
15 |
89,159,096 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACCTGTGTGGAAGCTAGG -3'
(R):5'- GGTCAACAAGCTCATCCACG -3'
Sequencing Primer
(F):5'- TCAGCGCAGGCAGGTGTG -3'
(R):5'- ATCCACGCCCGGGTAAGAAG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation