Incidental Mutation 'P0040:Plxnb2'
ID | 7975 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plxnb2
|
Ensembl Gene |
ENSMUSG00000036606 |
Gene Name | plexin B2 |
Synonyms | Debt, 1110007H23Rik |
MMRRC Submission |
038288-MU
|
Accession Numbers | |
Is this an essential gene? |
Probably essential (E-score: 0.956)
|
Stock # | P0040 (G1)
|
Quality Score | |
Status |
Validated
|
Chromosome | 15 |
Chromosomal Location | 89155549-89180788 bp(-) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
T to A
at 89162935 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 753
(S753C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060808]
[ENSMUST00000109331]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060808
AA Change: S753C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000051731 Gene: ENSMUSG00000036606 AA Change: S753C
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: S753C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104955 Gene: ENSMUSG00000036606 AA Change: S753C
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: ENSMUST00000197760
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230393
|
Meta Mutation Damage Score |
0.6043
|
Coding Region Coverage |
- 1x: 72.9%
- 3x: 54.5%
- 10x: 17.9%
- 20x: 3.9%
|
Validation Efficiency |
84% (31/37) |
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: 10 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arc |
A |
C |
15: 74,671,339 |
L345R |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,282,213 |
M2558K |
possibly damaging |
Het |
Gper1 |
T |
C |
5: 139,426,488 |
V196A |
probably benign |
Het |
Hars |
A |
T |
18: 36,773,575 |
I114N |
probably damaging |
Het |
Mov10 |
C |
T |
3: 104,804,679 |
V199M |
probably damaging |
Het |
Mttp |
T |
G |
3: 138,112,566 |
D377A |
possibly damaging |
Het |
Nlgn2 |
C |
T |
11: 69,825,730 |
A662T |
probably benign |
Het |
P3h3 |
A |
G |
6: 124,853,136 |
I372T |
probably damaging |
Het |
Sphk1 |
C |
T |
11: 116,535,065 |
|
probably benign |
Het |
Xylt2 |
C |
A |
11: 94,668,791 |
V342L |
possibly damaging |
Het |
|
Other mutations in Plxnb2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00546:Plxnb2
|
APN |
15 |
89162366 |
splice site |
probably benign |
|
IGL01574:Plxnb2
|
APN |
15 |
89162683 |
splice site |
probably null |
|
IGL01695:Plxnb2
|
APN |
15 |
89157214 |
missense |
possibly damaging |
0.96 |
IGL01763:Plxnb2
|
APN |
15 |
89161981 |
splice site |
probably null |
|
IGL01921:Plxnb2
|
APN |
15 |
89164271 |
missense |
possibly damaging |
0.78 |
IGL02129:Plxnb2
|
APN |
15 |
89160410 |
missense |
probably benign |
0.04 |
IGL02153:Plxnb2
|
APN |
15 |
89165813 |
nonsense |
probably null |
|
IGL02637:Plxnb2
|
APN |
15 |
89164057 |
missense |
possibly damaging |
0.53 |
IGL02892:Plxnb2
|
APN |
15 |
89161222 |
critical splice donor site |
probably null |
|
IGL03108:Plxnb2
|
APN |
15 |
89158031 |
missense |
probably benign |
0.32 |
IGL03115:Plxnb2
|
APN |
15 |
89162438 |
splice site |
probably benign |
|
R0022:Plxnb2
|
UTSW |
15 |
89163276 |
critical splice donor site |
probably null |
|
R0095:Plxnb2
|
UTSW |
15 |
89165331 |
missense |
probably benign |
|
R0103:Plxnb2
|
UTSW |
15 |
89161769 |
missense |
possibly damaging |
0.85 |
R0544:Plxnb2
|
UTSW |
15 |
89158613 |
splice site |
probably benign |
|
R0671:Plxnb2
|
UTSW |
15 |
89157981 |
missense |
probably benign |
0.14 |
R1279:Plxnb2
|
UTSW |
15 |
89162321 |
missense |
probably benign |
0.02 |
R1530:Plxnb2
|
UTSW |
15 |
89167192 |
missense |
probably benign |
|
R1542:Plxnb2
|
UTSW |
15 |
89165921 |
missense |
probably damaging |
1.00 |
R1610:Plxnb2
|
UTSW |
15 |
89158493 |
missense |
probably damaging |
1.00 |
R1686:Plxnb2
|
UTSW |
15 |
89162462 |
missense |
probably damaging |
1.00 |
R1702:Plxnb2
|
UTSW |
15 |
89161984 |
critical splice donor site |
probably null |
|
R1996:Plxnb2
|
UTSW |
15 |
89158768 |
missense |
probably benign |
0.13 |
R1997:Plxnb2
|
UTSW |
15 |
89158768 |
missense |
probably benign |
0.13 |
R2031:Plxnb2
|
UTSW |
15 |
89162810 |
nonsense |
probably null |
|
R2049:Plxnb2
|
UTSW |
15 |
89159002 |
missense |
probably damaging |
1.00 |
R2072:Plxnb2
|
UTSW |
15 |
89158451 |
missense |
probably damaging |
1.00 |
R2076:Plxnb2
|
UTSW |
15 |
89158026 |
missense |
probably damaging |
1.00 |
R2140:Plxnb2
|
UTSW |
15 |
89156562 |
missense |
probably benign |
0.04 |
R2418:Plxnb2
|
UTSW |
15 |
89161069 |
missense |
possibly damaging |
0.72 |
R2419:Plxnb2
|
UTSW |
15 |
89161069 |
missense |
possibly damaging |
0.72 |
R3752:Plxnb2
|
UTSW |
15 |
89157255 |
splice site |
probably benign |
|
R3825:Plxnb2
|
UTSW |
15 |
89166399 |
missense |
probably benign |
0.05 |
R4154:Plxnb2
|
UTSW |
15 |
89159642 |
missense |
probably damaging |
0.98 |
R4197:Plxnb2
|
UTSW |
15 |
89157018 |
missense |
probably damaging |
1.00 |
R4385:Plxnb2
|
UTSW |
15 |
89160623 |
missense |
probably damaging |
0.96 |
R4434:Plxnb2
|
UTSW |
15 |
89162803 |
missense |
probably damaging |
1.00 |
R4678:Plxnb2
|
UTSW |
15 |
89160928 |
missense |
probably benign |
0.37 |
R4717:Plxnb2
|
UTSW |
15 |
89157419 |
nonsense |
probably null |
|
R4773:Plxnb2
|
UTSW |
15 |
89166947 |
missense |
probably benign |
0.06 |
R4905:Plxnb2
|
UTSW |
15 |
89157411 |
missense |
probably damaging |
1.00 |
R5368:Plxnb2
|
UTSW |
15 |
89159593 |
missense |
possibly damaging |
0.94 |
R5418:Plxnb2
|
UTSW |
15 |
89166491 |
missense |
probably benign |
0.00 |
R5484:Plxnb2
|
UTSW |
15 |
89164209 |
splice site |
probably null |
|
R5520:Plxnb2
|
UTSW |
15 |
89167543 |
missense |
possibly damaging |
0.65 |
R5566:Plxnb2
|
UTSW |
15 |
89164020 |
missense |
probably benign |
0.05 |
R5568:Plxnb2
|
UTSW |
15 |
89157435 |
missense |
probably damaging |
1.00 |
R5619:Plxnb2
|
UTSW |
15 |
89162809 |
missense |
possibly damaging |
0.92 |
R5685:Plxnb2
|
UTSW |
15 |
89167032 |
missense |
probably damaging |
1.00 |
R5688:Plxnb2
|
UTSW |
15 |
89158696 |
missense |
probably damaging |
1.00 |
R5809:Plxnb2
|
UTSW |
15 |
89167571 |
missense |
possibly damaging |
0.61 |
R5813:Plxnb2
|
UTSW |
15 |
89160759 |
missense |
possibly damaging |
0.81 |
R5866:Plxnb2
|
UTSW |
15 |
89167572 |
missense |
probably damaging |
1.00 |
R6016:Plxnb2
|
UTSW |
15 |
89161022 |
missense |
possibly damaging |
0.55 |
R6117:Plxnb2
|
UTSW |
15 |
89158000 |
missense |
probably benign |
0.04 |
R6187:Plxnb2
|
UTSW |
15 |
89167258 |
missense |
probably damaging |
1.00 |
R6260:Plxnb2
|
UTSW |
15 |
89165291 |
missense |
probably benign |
0.22 |
R6263:Plxnb2
|
UTSW |
15 |
89161986 |
missense |
probably damaging |
0.99 |
R6269:Plxnb2
|
UTSW |
15 |
89160713 |
missense |
probably benign |
0.18 |
R6351:Plxnb2
|
UTSW |
15 |
89157770 |
missense |
possibly damaging |
0.95 |
R6522:Plxnb2
|
UTSW |
15 |
89164426 |
missense |
probably benign |
0.18 |
R6856:Plxnb2
|
UTSW |
15 |
89164320 |
missense |
probably benign |
0.27 |
R6930:Plxnb2
|
UTSW |
15 |
89160389 |
missense |
probably benign |
|
R7354:Plxnb2
|
UTSW |
15 |
89165725 |
missense |
possibly damaging |
0.92 |
R7513:Plxnb2
|
UTSW |
15 |
89158322 |
critical splice acceptor site |
probably null |
|
R7522:Plxnb2
|
UTSW |
15 |
89161774 |
missense |
probably benign |
0.20 |
R7730:Plxnb2
|
UTSW |
15 |
89162330 |
missense |
probably benign |
|
R7766:Plxnb2
|
UTSW |
15 |
89161271 |
missense |
probably benign |
0.01 |
R7781:Plxnb2
|
UTSW |
15 |
89157022 |
missense |
possibly damaging |
0.89 |
R8126:Plxnb2
|
UTSW |
15 |
89163303 |
missense |
probably benign |
|
R8131:Plxnb2
|
UTSW |
15 |
89158713 |
missense |
probably damaging |
1.00 |
R8372:Plxnb2
|
UTSW |
15 |
89158493 |
missense |
probably damaging |
1.00 |
X0027:Plxnb2
|
UTSW |
15 |
89160713 |
missense |
probably benign |
0.18 |
Z1177:Plxnb2
|
UTSW |
15 |
89159096 |
missense |
probably damaging |
1.00 |
|
Posted On | 2012-11-20 |