Incidental Mutation 'R1279:Plxnb2'
| ID |
150983 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plxnb2
|
| Ensembl Gene |
ENSMUSG00000036606 |
| Gene Name |
plexin B2 |
| Synonyms |
Debt, 1110007H23Rik |
| MMRRC Submission |
039345-MU
|
| Accession Numbers |
|
| Is this an essential gene? |
Probably essential
(E-score: 0.942)
|
| Stock # |
R1279 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
89155549-89180788 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 89162321 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 873
(T873I)
|
| 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: T873I
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606
AA Change: T873I
| 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: T873I
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606
AA Change: T873I
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.2%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8l |
C |
T |
17: 32,332,483 |
R511H |
probably damaging |
Het |
| Atp6v0d2 |
A |
T |
4: 19,878,298 |
M325K |
probably benign |
Het |
| Gjb3 |
G |
A |
4: 127,326,431 |
R103W |
probably damaging |
Het |
| Gm10436 |
C |
T |
12: 88,175,880 |
V323M |
probably benign |
Het |
| Gm17305 |
TCTCCTCCTCCTCCTCCTCCTC |
TCTCCTCCTCCTCCTCCTC |
11: 69,369,349 |
|
probably benign |
Het |
| Mfap5 |
A |
G |
6: 122,526,763 |
|
probably null |
Het |
| Nrcam |
T |
C |
12: 44,544,877 |
|
probably null |
Het |
| Oas1a |
A |
G |
5: 120,897,178 |
|
probably null |
Het |
| Oat |
A |
T |
7: 132,567,080 |
L137H |
probably damaging |
Het |
| Olfr135 |
A |
G |
17: 38,208,787 |
I181V |
probably benign |
Het |
| Olfr1564 |
T |
C |
17: 33,216,326 |
Y6C |
possibly damaging |
Het |
| Olfr183 |
G |
A |
16: 59,000,138 |
G151D |
possibly damaging |
Het |
| Padi3 |
T |
C |
4: 140,803,577 |
S45G |
probably benign |
Het |
| Pias1 |
A |
G |
9: 62,892,145 |
S488P |
probably damaging |
Het |
| Ppp4r2 |
A |
T |
6: 100,865,918 |
R176* |
probably null |
Het |
| Prkdc |
A |
T |
16: 15,690,282 |
L932F |
probably damaging |
Het |
| Ros1 |
C |
A |
10: 52,142,166 |
A799S |
possibly damaging |
Het |
| Scn4a |
A |
T |
11: 106,335,682 |
I684N |
probably damaging |
Het |
| Sypl2 |
A |
G |
3: 108,217,674 |
F124L |
probably damaging |
Het |
| Tacr1 |
G |
T |
6: 82,557,183 |
E397* |
probably null |
Het |
| Uhrf1bp1 |
T |
C |
17: 27,890,071 |
F1088S |
possibly damaging |
Het |
| Vmn1r7 |
T |
C |
6: 57,024,949 |
T109A |
possibly damaging |
Het |
| Zp1 |
A |
G |
19: 10,918,577 |
S232P |
probably 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 |
|
|
P0040:Plxnb2
|
UTSW |
15 |
89162935 |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
R8736:Plxnb2
|
UTSW |
15 |
89162058 |
missense |
probably damaging |
1.00 |
|
R8772:Plxnb2
|
UTSW |
15 |
89162746 |
missense |
probably damaging |
1.00 |
|
R9022:Plxnb2
|
UTSW |
15 |
89164268 |
missense |
possibly damaging |
0.59 |
|
R9253:Plxnb2
|
UTSW |
15 |
89167812 |
missense |
probably benign |
|
|
R9398:Plxnb2
|
UTSW |
15 |
89160919 |
missense |
probably benign |
0.02 |
|
X0027:Plxnb2
|
UTSW |
15 |
89160713 |
missense |
probably benign |
0.18 |
|
Z1177:Plxnb2
|
UTSW |
15 |
89159096 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGAGTGTCACCCGCACATCC -3'
(R):5'- GCCAGAACTGTGCCTTTGAACCAAG -3'
Sequencing Primer
(F):5'- ACACACATGCATAGTTAGGGC -3'
(R):5'- AGCAGCTGAACAGATGCA -3'
|
| Posted On |
2014-01-29 |
