Incidental Mutation 'R5688:Plxnb2'
| ID |
443531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plxnb2
|
| Ensembl Gene |
ENSMUSG00000036606 |
| Gene Name |
plexin B2 |
| Synonyms |
1110007H23Rik, Debt |
| MMRRC Submission |
043321-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.943)
|
| Stock # |
R5688 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
89039752-89064960 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89042899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 1497
(K1497E)
|
| 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: K1497E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606
AA Change: K1497E
| 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: K1497E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606
AA Change: K1497E
| 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: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp7 |
G |
A |
7: 28,315,920 (GRCm39) |
A222V |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,979,883 (GRCm39) |
D389G |
probably benign |
Het |
| Aldh1l2 |
A |
T |
10: 83,337,789 (GRCm39) |
S559T |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,576,877 (GRCm39) |
N144K |
possibly damaging |
Het |
| Anp32b |
T |
A |
4: 46,469,868 (GRCm39) |
|
probably null |
Het |
| Atf7 |
C |
T |
15: 102,459,944 (GRCm39) |
R57H |
probably damaging |
Het |
| Atp10b |
A |
T |
11: 43,092,000 (GRCm39) |
H345L |
probably benign |
Het |
| Cacna2d1 |
A |
T |
5: 16,563,950 (GRCm39) |
I859F |
probably damaging |
Het |
| Calcr |
T |
A |
6: 3,714,730 (GRCm39) |
|
probably null |
Het |
| Cd248 |
A |
G |
19: 5,119,963 (GRCm39) |
T604A |
probably benign |
Het |
| Cemip |
C |
T |
7: 83,610,849 (GRCm39) |
V702M |
probably damaging |
Het |
| Cep295 |
G |
T |
9: 15,243,282 (GRCm39) |
Q469K |
probably damaging |
Het |
| Cntn5 |
A |
G |
9: 9,748,427 (GRCm39) |
W485R |
probably damaging |
Het |
| Cpe |
T |
C |
8: 65,062,189 (GRCm39) |
N289S |
possibly damaging |
Het |
| Cyp2j11 |
G |
A |
4: 96,233,358 (GRCm39) |
R113C |
probably damaging |
Het |
| Dcp1b |
T |
C |
6: 119,194,872 (GRCm39) |
S531P |
probably benign |
Het |
| Defb7 |
T |
G |
8: 19,545,167 (GRCm39) |
L15R |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Ednrb |
T |
C |
14: 104,060,831 (GRCm39) |
D198G |
probably damaging |
Het |
| Engase |
A |
C |
11: 118,378,146 (GRCm39) |
E312A |
possibly damaging |
Het |
| Evl |
G |
A |
12: 108,639,612 (GRCm39) |
|
probably null |
Het |
| Faf1 |
C |
A |
4: 109,652,010 (GRCm39) |
Q234K |
probably damaging |
Het |
| Garre1 |
T |
A |
7: 33,953,416 (GRCm39) |
T449S |
possibly damaging |
Het |
| Garre1 |
T |
G |
7: 33,984,134 (GRCm39) |
D163A |
probably damaging |
Het |
| Gm5460 |
C |
A |
14: 33,767,752 (GRCm39) |
N453K |
possibly damaging |
Het |
| Gm7356 |
T |
A |
17: 14,220,869 (GRCm39) |
I387F |
possibly damaging |
Het |
| H1f2 |
A |
G |
13: 23,923,148 (GRCm39) |
K106R |
probably damaging |
Het |
| Hagh |
T |
C |
17: 25,069,568 (GRCm39) |
M1T |
probably null |
Het |
| Hars1 |
A |
T |
18: 36,905,369 (GRCm39) |
V155E |
probably damaging |
Het |
| Lca5 |
C |
A |
9: 83,280,619 (GRCm39) |
D394Y |
probably benign |
Het |
| Lmtk3 |
T |
C |
7: 45,440,834 (GRCm39) |
L280P |
probably damaging |
Het |
| Lrit1 |
C |
T |
14: 36,784,385 (GRCm39) |
A571V |
possibly damaging |
Het |
| Map4k2 |
C |
A |
19: 6,396,836 (GRCm39) |
P584H |
probably damaging |
Het |
| Mgst1 |
T |
C |
6: 138,118,798 (GRCm39) |
|
probably benign |
Het |
| Mtrex |
A |
T |
13: 113,009,590 (GRCm39) |
C936* |
probably null |
Het |
| Neb |
C |
T |
2: 52,086,339 (GRCm39) |
V5245I |
probably damaging |
Het |
| Oas3 |
T |
C |
5: 120,896,867 (GRCm39) |
N918S |
probably benign |
Het |
| Or4c106 |
C |
T |
2: 88,683,023 (GRCm39) |
T243I |
probably benign |
Het |
| Or5d16 |
T |
A |
2: 87,773,552 (GRCm39) |
Q140L |
probably benign |
Het |
| Or8b8 |
A |
C |
9: 37,809,359 (GRCm39) |
I220L |
possibly damaging |
Het |
| Ovch2 |
A |
G |
7: 107,393,201 (GRCm39) |
L224P |
probably damaging |
Het |
| Patj |
A |
T |
4: 98,409,047 (GRCm39) |
K34* |
probably null |
Het |
| Pcf11 |
T |
A |
7: 92,308,016 (GRCm39) |
R717S |
possibly damaging |
Het |
| Plcb1 |
A |
T |
2: 135,177,400 (GRCm39) |
E577D |
probably benign |
Het |
| Pyroxd1 |
C |
A |
6: 142,299,266 (GRCm39) |
L141I |
probably damaging |
Het |
| Rhobtb3 |
G |
T |
13: 76,020,537 (GRCm39) |
N588K |
probably benign |
Het |
| Rnasel |
G |
A |
1: 153,629,452 (GRCm39) |
|
probably benign |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Shank1 |
A |
T |
7: 44,003,911 (GRCm39) |
I1868F |
possibly damaging |
Het |
| Slc28a3 |
A |
T |
13: 58,706,463 (GRCm39) |
S593T |
probably damaging |
Het |
| Slc29a4 |
T |
C |
5: 142,699,853 (GRCm39) |
I168T |
possibly damaging |
Het |
| Slc35f5 |
C |
T |
1: 125,518,775 (GRCm39) |
P502L |
probably benign |
Het |
| Slco6d1 |
T |
C |
1: 98,408,493 (GRCm39) |
I463T |
probably damaging |
Het |
| Slk |
A |
G |
19: 47,608,451 (GRCm39) |
D468G |
probably benign |
Het |
| Spata31d1d |
G |
T |
13: 59,874,322 (GRCm39) |
P1071Q |
probably damaging |
Het |
| Tert |
G |
A |
13: 73,787,275 (GRCm39) |
V754I |
probably damaging |
Het |
| Thada |
T |
C |
17: 84,759,155 (GRCm39) |
T235A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,564,472 (GRCm39) |
D28555G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,710,328 (GRCm39) |
|
probably null |
Het |
| Ubqln4 |
T |
C |
3: 88,472,575 (GRCm39) |
L464P |
probably damaging |
Het |
| Unc45b |
A |
T |
11: 82,813,643 (GRCm39) |
N350I |
possibly damaging |
Het |
| Vmn2r65 |
T |
C |
7: 84,589,900 (GRCm39) |
D672G |
probably benign |
Het |
| Zfp947 |
T |
A |
17: 22,365,066 (GRCm39) |
I203L |
probably benign |
Het |
| Zfp964 |
T |
A |
8: 70,116,766 (GRCm39) |
H454Q |
probably benign |
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 |
|
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 |
|
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'- TGGGAGGTAAGGTCCAAGTC -3'
(R):5'- CAAACTGTCCTGGGAAGGGTTTC -3'
Sequencing Primer
(F):5'- CAGGACGCCATTCTGCAGAAG -3'
(R):5'- CTGCGATGCTGAGGTACG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation