Incidental Mutation 'R9398:Plxnb2'
| ID |
710965 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plxnb2
|
| Ensembl Gene |
ENSMUSG00000036606 |
| Gene Name |
plexin B2 |
| Synonyms |
1110007H23Rik, Debt |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.938)
|
| Stock # |
R9398 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
89039752-89064960 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89045122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1108
(V1108A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051731
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060808]
[ENSMUST00000109331]
|
| AlphaFold |
B2RXS4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060808
AA Change: V1108A
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606
AA Change: V1108A
| 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: V1108A
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606
AA Change: V1108A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvrl1 |
A |
T |
15: 101,034,924 (GRCm39) |
K228* |
probably null |
Het |
| Adrb2 |
T |
C |
18: 62,312,276 (GRCm39) |
D183G |
probably benign |
Het |
| Ap1m2 |
A |
G |
9: 21,216,935 (GRCm39) |
Y134H |
probably damaging |
Het |
| Arid5a |
A |
G |
1: 36,358,073 (GRCm39) |
T217A |
probably benign |
Het |
| Cdnf |
C |
T |
2: 3,522,075 (GRCm39) |
T89I |
possibly damaging |
Het |
| Cntnap3 |
G |
A |
13: 65,051,648 (GRCm39) |
R3W |
probably benign |
Het |
| Col6a6 |
A |
G |
9: 105,651,825 (GRCm39) |
I1062T |
probably benign |
Het |
| Ctss |
T |
C |
3: 95,454,258 (GRCm39) |
F270S |
possibly damaging |
Het |
| Ddhd1 |
C |
T |
14: 45,895,117 (GRCm39) |
G118R |
possibly damaging |
Het |
| Ddx11 |
A |
G |
17: 66,436,912 (GRCm39) |
K69E |
probably benign |
Het |
| Dgkb |
G |
A |
12: 38,189,657 (GRCm39) |
G328D |
probably damaging |
Het |
| Dock1 |
C |
T |
7: 134,774,228 (GRCm39) |
T1852M |
probably damaging |
Het |
| Gm19410 |
T |
C |
8: 36,272,356 (GRCm39) |
Y1346H |
probably benign |
Het |
| Gprin1 |
G |
T |
13: 54,887,383 (GRCm39) |
T297N |
probably damaging |
Het |
| Gramd1c |
A |
G |
16: 43,833,381 (GRCm39) |
F187S |
probably damaging |
Het |
| Gse1 |
A |
G |
8: 121,303,074 (GRCm39) |
N1072D |
unknown |
Het |
| Gtf3c6 |
G |
A |
10: 40,133,520 (GRCm39) |
|
probably benign |
Het |
| Hipk3 |
T |
A |
2: 104,263,562 (GRCm39) |
T897S |
probably benign |
Het |
| Igsf21 |
T |
A |
4: 139,973,762 (GRCm39) |
|
probably benign |
Het |
| Itgb1 |
A |
G |
8: 129,452,605 (GRCm39) |
I757V |
probably damaging |
Het |
| Lamb2 |
C |
T |
9: 108,364,366 (GRCm39) |
R1102W |
possibly damaging |
Het |
| Lzts2 |
T |
G |
19: 45,013,208 (GRCm39) |
C374W |
unknown |
Het |
| Mapk10 |
A |
T |
5: 103,061,152 (GRCm39) |
S462T |
probably damaging |
Het |
| Mtcl1 |
A |
T |
17: 66,755,462 (GRCm39) |
D293E |
possibly damaging |
Het |
| Nf1 |
T |
G |
11: 79,438,018 (GRCm39) |
H109Q |
probably damaging |
Het |
| Nlrp9b |
T |
C |
7: 19,783,435 (GRCm39) |
L926P |
probably damaging |
Het |
| Notch2 |
G |
A |
3: 98,009,668 (GRCm39) |
D532N |
probably damaging |
Het |
| Olfm4 |
A |
T |
14: 80,249,249 (GRCm39) |
Y122F |
probably benign |
Het |
| Or52e19b |
T |
A |
7: 103,032,487 (GRCm39) |
T241S |
probably damaging |
Het |
| Or52r1 |
A |
G |
7: 102,537,000 (GRCm39) |
M120T |
probably damaging |
Het |
| Or56a4 |
A |
T |
7: 104,806,006 (GRCm39) |
Y294* |
probably null |
Het |
| Or5g24-ps1 |
T |
C |
2: 85,464,367 (GRCm39) |
V198A |
probably benign |
Het |
| Or5p76 |
T |
C |
7: 108,123,035 (GRCm39) |
T41A |
probably damaging |
Het |
| Or5t18 |
A |
G |
2: 86,637,160 (GRCm39) |
L61P |
possibly damaging |
Het |
| P2rx2 |
A |
T |
5: 110,488,138 (GRCm39) |
M472K |
probably benign |
Het |
| Pbxip1 |
A |
G |
3: 89,354,941 (GRCm39) |
K487E |
probably benign |
Het |
| Polq |
A |
G |
16: 36,881,394 (GRCm39) |
N1186S |
probably benign |
Het |
| Por |
T |
A |
5: 135,754,597 (GRCm39) |
W6R |
unknown |
Het |
| Prex2 |
G |
A |
1: 11,207,028 (GRCm39) |
V529I |
probably benign |
Het |
| Rgs6 |
T |
G |
12: 82,698,615 (GRCm39) |
S5A |
probably benign |
Het |
| Rp9 |
G |
T |
9: 22,360,082 (GRCm39) |
S171* |
probably null |
Het |
| Sec11c |
T |
A |
18: 65,942,568 (GRCm39) |
I47N |
possibly damaging |
Het |
| Sh2b1 |
GCCACGGGGACCAGCTC |
GCCACGGGGACCAGCTCATCCACGGGGACCAGCTC |
7: 126,066,756 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
GACCAGCTCAGCCACGGG |
GACCAGCTCAGCCACGGGTACCAGCTCAGCCACGGG |
7: 126,066,746 (GRCm39) |
|
probably benign |
Het |
| Slco1a8 |
A |
G |
6: 141,940,511 (GRCm39) |
S137P |
possibly damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,213,651 (GRCm39) |
M692T |
possibly damaging |
Het |
| Sult1d1 |
T |
A |
5: 87,713,954 (GRCm39) |
Q30L |
probably benign |
Het |
| Tcea2 |
A |
G |
2: 181,322,243 (GRCm39) |
D15G |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,066,429 (GRCm39) |
S2344G |
possibly damaging |
Het |
| Ttc6 |
T |
A |
12: 57,784,404 (GRCm39) |
Y1824* |
probably null |
Het |
| Ubqln5 |
T |
C |
7: 103,777,985 (GRCm39) |
T280A |
probably benign |
Het |
| Ush1c |
T |
C |
7: 45,869,934 (GRCm39) |
R342G |
probably benign |
Het |
| Vmn1r185 |
T |
A |
7: 26,311,056 (GRCm39) |
I150F |
probably benign |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn1r86 |
A |
G |
7: 12,836,261 (GRCm39) |
M205T |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,896,956 (GRCm39) |
Y321* |
probably null |
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 |
|
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 |
|
|
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'- CAGCGTCTTCATAATGCAACGC -3'
(R):5'- TGGAGTACGTGTTCTACAACGAC -3'
Sequencing Primer
(F):5'- GTCTTCATAATGCAACGCTCAGC -3'
(R):5'- ACGACACCAAGGTCGTCTTCTTG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation