Incidental Mutation 'R5484:Plxnb2'
| ID |
430338 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plxnb2
|
| Ensembl Gene |
ENSMUSG00000036606 |
| Gene Name |
plexin B2 |
| Synonyms |
1110007H23Rik, Debt |
| MMRRC Submission |
043045-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.943)
|
| Stock # |
R5484 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
89039752-89064960 bp(-) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 89048412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060808]
[ENSMUST00000109331]
|
| AlphaFold |
B2RXS4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000060808
|
| SMART Domains |
Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606
| 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 null
Transcript: ENSMUST00000109331
|
| SMART Domains |
Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.4%
|
| Validation Efficiency |
97% (76/78) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,313,851 (GRCm39) |
H609R |
probably benign |
Het |
| Abca6 |
A |
T |
11: 110,074,899 (GRCm39) |
V1388E |
probably damaging |
Het |
| Alx1 |
T |
A |
10: 102,861,177 (GRCm39) |
D117V |
probably damaging |
Het |
| Ascl4 |
T |
C |
10: 85,764,401 (GRCm39) |
L16P |
probably damaging |
Het |
| Atp4a |
G |
A |
7: 30,420,097 (GRCm39) |
|
probably benign |
Het |
| Btnl10 |
G |
A |
11: 58,814,651 (GRCm39) |
V444M |
probably damaging |
Het |
| Camkv |
A |
T |
9: 107,823,345 (GRCm39) |
N124Y |
probably damaging |
Het |
| Catsperb |
T |
C |
12: 101,542,175 (GRCm39) |
L625P |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,612,199 (GRCm39) |
I973V |
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,815,483 (GRCm39) |
D1844G |
probably benign |
Het |
| Chd7 |
G |
C |
4: 8,828,258 (GRCm39) |
K1066N |
probably damaging |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,515,827 (GRCm39) |
D409G |
probably benign |
Het |
| Cry1 |
T |
C |
10: 84,982,588 (GRCm39) |
|
probably null |
Het |
| Cttnbp2 |
T |
A |
6: 18,427,689 (GRCm39) |
|
probably benign |
Het |
| Cyrib |
T |
A |
15: 63,815,056 (GRCm39) |
T139S |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,022,531 (GRCm39) |
V1623E |
probably damaging |
Het |
| Dnah6 |
G |
T |
6: 73,069,099 (GRCm39) |
D2477E |
possibly damaging |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dop1a |
C |
G |
9: 86,427,341 (GRCm39) |
R2164G |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,368,014 (GRCm39) |
T678A |
possibly damaging |
Het |
| Farsb |
A |
C |
1: 78,452,833 (GRCm39) |
I51S |
probably damaging |
Het |
| Gm10220 |
T |
A |
5: 26,322,930 (GRCm39) |
I161L |
possibly damaging |
Het |
| Gm10782 |
G |
T |
13: 56,510,987 (GRCm39) |
|
noncoding transcript |
Het |
| Gm12830 |
A |
T |
4: 114,702,248 (GRCm39) |
T137S |
unknown |
Het |
| Gopc |
A |
G |
10: 52,234,942 (GRCm39) |
L67P |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,551,291 (GRCm39) |
I2655V |
probably benign |
Het |
| Hmcn2 |
C |
T |
2: 31,283,066 (GRCm39) |
Q1981* |
probably null |
Het |
| Ifi209 |
T |
A |
1: 173,468,640 (GRCm39) |
S157T |
probably benign |
Het |
| Ift56 |
T |
G |
6: 38,366,057 (GRCm39) |
C124W |
probably benign |
Het |
| Iqcf1 |
A |
T |
9: 106,379,107 (GRCm39) |
I74F |
probably damaging |
Het |
| Irf3 |
A |
T |
7: 44,649,382 (GRCm39) |
R78W |
probably damaging |
Het |
| Kank4 |
T |
C |
4: 98,663,022 (GRCm39) |
D722G |
probably benign |
Het |
| Loxl1 |
A |
G |
9: 58,198,065 (GRCm39) |
V597A |
possibly damaging |
Het |
| Marveld1 |
T |
C |
19: 42,136,272 (GRCm39) |
L62P |
probably damaging |
Het |
| Mga |
T |
G |
2: 119,747,107 (GRCm39) |
D419E |
possibly damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,938,463 (GRCm39) |
K251E |
possibly damaging |
Het |
| Myh4 |
A |
G |
11: 67,142,644 (GRCm39) |
E935G |
probably damaging |
Het |
| Nat8f2 |
C |
A |
6: 85,844,994 (GRCm39) |
A123S |
possibly damaging |
Het |
| Niban1 |
A |
G |
1: 151,593,837 (GRCm39) |
T841A |
probably benign |
Het |
| Or4d11 |
G |
A |
19: 12,013,192 (GRCm39) |
L305F |
probably benign |
Het |
| Pcdha9 |
T |
A |
18: 37,131,156 (GRCm39) |
V75E |
probably damaging |
Het |
| Pebp4 |
A |
T |
14: 70,200,991 (GRCm39) |
|
probably null |
Het |
| Pitx1 |
A |
G |
13: 55,974,166 (GRCm39) |
S222P |
probably benign |
Het |
| Plekhg3 |
G |
A |
12: 76,625,174 (GRCm39) |
V1339M |
possibly damaging |
Het |
| Plekhs1 |
C |
T |
19: 56,468,260 (GRCm39) |
S276L |
possibly damaging |
Het |
| Plin4 |
T |
C |
17: 56,411,932 (GRCm39) |
T700A |
possibly damaging |
Het |
| Pms2 |
T |
C |
5: 143,864,943 (GRCm39) |
I675T |
probably damaging |
Het |
| Polrmt |
A |
G |
10: 79,577,888 (GRCm39) |
L268P |
probably damaging |
Het |
| Rtp1 |
A |
G |
16: 23,248,025 (GRCm39) |
T33A |
probably benign |
Het |
| Safb2 |
T |
C |
17: 56,882,346 (GRCm39) |
|
probably benign |
Het |
| Sdk1 |
C |
A |
5: 142,085,941 (GRCm39) |
P1383Q |
probably damaging |
Het |
| Setdb1 |
A |
T |
3: 95,244,569 (GRCm39) |
C758S |
probably damaging |
Het |
| Sh3gl2 |
T |
C |
4: 85,317,160 (GRCm39) |
|
probably benign |
Het |
| Slc13a2 |
G |
A |
11: 78,295,648 (GRCm39) |
|
probably benign |
Het |
| Slc35b1 |
T |
C |
11: 95,278,631 (GRCm39) |
Y126H |
probably damaging |
Het |
| Strip2 |
C |
A |
6: 29,917,154 (GRCm39) |
|
probably benign |
Het |
| Tbx4 |
A |
G |
11: 85,805,230 (GRCm39) |
T440A |
probably damaging |
Het |
| Tcf7l2 |
C |
A |
19: 55,907,940 (GRCm39) |
|
probably null |
Het |
| Tgfb1 |
A |
C |
7: 25,387,574 (GRCm39) |
D94A |
probably benign |
Het |
| Tmem132b |
T |
C |
5: 125,864,797 (GRCm39) |
C968R |
probably damaging |
Het |
| Tmem176b |
T |
A |
6: 48,811,467 (GRCm39) |
M61L |
probably benign |
Het |
| Tmem258 |
A |
G |
19: 10,184,689 (GRCm39) |
|
probably null |
Het |
| Tpr |
T |
C |
1: 150,302,639 (GRCm39) |
L1379S |
probably benign |
Het |
| Vmn2r44 |
T |
C |
7: 8,383,123 (GRCm39) |
D157G |
possibly damaging |
Het |
| Wfdc8 |
T |
C |
2: 164,439,649 (GRCm39) |
I244M |
probably benign |
Het |
| Zfp341 |
T |
C |
2: 154,466,921 (GRCm39) |
S97P |
probably benign |
Het |
| Zfp655 |
T |
C |
5: 145,180,445 (GRCm39) |
V101A |
probably benign |
Het |
| Zfp788 |
T |
C |
7: 41,299,277 (GRCm39) |
S586P |
probably damaging |
Het |
| Zfp874b |
C |
T |
13: 67,629,373 (GRCm39) |
V52I |
possibly damaging |
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 |
|
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 |
|
|
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'- ACAGTCTCCAAGTTCTTGCC -3'
(R):5'- AGTCCTGGCTACCTTGTGAGAG -3'
Sequencing Primer
(F):5'- AAGTTCTTGCCCTGGAAGGTCAC -3'
(R):5'- CTTGTGAGAGGTTCCCCAC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation