Incidental Mutation 'R6856:Plxnb2'
| ID |
535280 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plxnb2
|
| Ensembl Gene |
ENSMUSG00000036606 |
| Gene Name |
plexin B2 |
| Synonyms |
1110007H23Rik, Debt |
| MMRRC Submission |
044958-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.938)
|
| Stock # |
R6856 (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 C
at 89048523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 629
(C629G)
|
| 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: C629G
PolyPhen 2
Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606
AA Change: C629G
| 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: C629G
PolyPhen 2
Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606
AA Change: C629G
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
A |
G |
3: 151,205,755 (GRCm39) |
M156V |
probably benign |
Het |
| Aire |
A |
T |
10: 77,866,089 (GRCm39) |
F546I |
probably damaging |
Het |
| Ankk1 |
T |
C |
9: 49,331,320 (GRCm39) |
E230G |
probably benign |
Het |
| Anp32a |
A |
T |
9: 62,279,397 (GRCm39) |
K86N |
possibly damaging |
Het |
| Aqp4 |
T |
C |
18: 15,532,953 (GRCm39) |
I47V |
possibly damaging |
Het |
| Arap3 |
A |
G |
18: 38,112,916 (GRCm39) |
V1098A |
possibly damaging |
Het |
| Ascc3 |
T |
A |
10: 50,625,158 (GRCm39) |
W1652R |
probably damaging |
Het |
| Atad2 |
T |
A |
15: 57,970,209 (GRCm39) |
H464L |
probably damaging |
Het |
| Brca2 |
C |
A |
5: 150,463,673 (GRCm39) |
H1146N |
possibly damaging |
Het |
| Capn9 |
G |
A |
8: 125,324,308 (GRCm39) |
V203M |
probably damaging |
Het |
| Ccr6 |
T |
A |
17: 8,474,881 (GRCm39) |
S29T |
probably benign |
Het |
| Cfap99 |
G |
T |
5: 34,467,561 (GRCm39) |
|
probably null |
Het |
| Cpt1c |
C |
T |
7: 44,609,342 (GRCm39) |
G716S |
probably damaging |
Het |
| Dhx29 |
A |
T |
13: 113,089,395 (GRCm39) |
Q722L |
probably benign |
Het |
| Dmxl1 |
C |
T |
18: 49,985,355 (GRCm39) |
R201* |
probably null |
Het |
| Dsg2 |
G |
A |
18: 20,734,859 (GRCm39) |
G946S |
probably damaging |
Het |
| Erg |
C |
A |
16: 95,169,510 (GRCm39) |
|
probably null |
Het |
| Fbxo32 |
G |
A |
15: 58,078,037 (GRCm39) |
|
probably benign |
Het |
| Gask1b |
G |
T |
3: 79,793,448 (GRCm39) |
|
probably benign |
Het |
| Glis1 |
T |
G |
4: 107,293,076 (GRCm39) |
D66E |
probably damaging |
Het |
| Grm6 |
A |
T |
11: 50,750,652 (GRCm39) |
N605I |
probably damaging |
Het |
| Gtf3c6 |
T |
C |
10: 40,125,668 (GRCm39) |
E183G |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,305,180 (GRCm39) |
M861V |
probably benign |
Het |
| Igkv12-41 |
A |
T |
6: 69,835,513 (GRCm39) |
S80T |
probably damaging |
Het |
| Itprid2 |
C |
T |
2: 79,488,049 (GRCm39) |
R711C |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,523,742 (GRCm39) |
S1057P |
probably damaging |
Het |
| Krt36 |
T |
G |
11: 99,994,216 (GRCm39) |
Q287P |
probably damaging |
Het |
| Ldhd |
A |
G |
8: 112,356,906 (GRCm39) |
S13P |
probably benign |
Het |
| Lmtk3 |
T |
A |
7: 45,443,721 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,343,612 (GRCm39) |
F916I |
probably damaging |
Het |
| Map4k1 |
A |
T |
7: 28,686,259 (GRCm39) |
I92F |
probably damaging |
Het |
| Naa25 |
A |
T |
5: 121,576,867 (GRCm39) |
K872M |
probably damaging |
Het |
| Nek3 |
C |
A |
8: 22,619,463 (GRCm39) |
G443V |
probably damaging |
Het |
| Noxred1 |
T |
C |
12: 87,273,810 (GRCm39) |
E77G |
probably benign |
Het |
| Nup210 |
G |
A |
6: 91,064,895 (GRCm39) |
Q202* |
probably null |
Het |
| Or52d1 |
A |
T |
7: 103,755,998 (GRCm39) |
M171L |
probably benign |
Het |
| Or8k27 |
G |
T |
2: 86,276,251 (GRCm39) |
S25Y |
probably benign |
Het |
| Pax3 |
A |
G |
1: 78,109,056 (GRCm39) |
S201P |
probably damaging |
Het |
| Pcdhgb5 |
T |
A |
18: 37,866,457 (GRCm39) |
Y751N |
probably benign |
Het |
| Pign |
A |
T |
1: 105,481,620 (GRCm39) |
L792* |
probably null |
Het |
| Pkd1 |
T |
C |
17: 24,792,467 (GRCm39) |
F1385L |
probably benign |
Het |
| Prpsap2 |
A |
T |
11: 61,621,097 (GRCm39) |
I328N |
probably benign |
Het |
| Prrc2c |
A |
G |
1: 162,509,940 (GRCm39) |
L2317P |
probably damaging |
Het |
| Ptgfrn |
T |
C |
3: 100,952,762 (GRCm39) |
D824G |
probably damaging |
Het |
| Ptpra |
G |
A |
2: 130,361,301 (GRCm39) |
S204N |
probably damaging |
Het |
| Pygm |
G |
T |
19: 6,443,787 (GRCm39) |
G583C |
probably damaging |
Het |
| Rap1a |
A |
G |
3: 105,639,384 (GRCm39) |
F92L |
probably damaging |
Het |
| Slmap |
A |
T |
14: 26,151,247 (GRCm39) |
|
probably null |
Het |
| Spdye4c |
A |
G |
2: 128,438,050 (GRCm39) |
|
probably null |
Het |
| Speer4a3 |
A |
G |
5: 26,155,843 (GRCm39) |
I167T |
probably benign |
Het |
| Stk11 |
C |
A |
10: 79,963,924 (GRCm39) |
F97L |
probably benign |
Het |
| Tbc1d9b |
G |
A |
11: 50,059,573 (GRCm39) |
A992T |
probably benign |
Het |
| Tmem232 |
G |
A |
17: 65,757,305 (GRCm39) |
T296M |
possibly damaging |
Het |
| Trim33 |
C |
T |
3: 103,259,365 (GRCm39) |
T1018M |
probably damaging |
Het |
| Trpv2 |
A |
C |
11: 62,475,441 (GRCm39) |
I285L |
probably benign |
Het |
| Usp46 |
A |
G |
5: 74,189,595 (GRCm39) |
|
probably benign |
Het |
| Vmn1r27 |
T |
A |
6: 58,192,432 (GRCm39) |
M191L |
possibly damaging |
Het |
| Vwf |
G |
T |
6: 125,619,113 (GRCm39) |
E1264* |
probably null |
Het |
| Zfp109 |
A |
T |
7: 23,928,823 (GRCm39) |
N195K |
probably benign |
Het |
| Zfp385b |
T |
A |
2: 77,246,138 (GRCm39) |
L208F |
probably damaging |
Het |
| Zfp839 |
T |
A |
12: 110,833,195 (GRCm39) |
Y515* |
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 |
|
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'- AGTGAGGTGGAGGATTTCCC -3'
(R):5'- ATGTTGACGTGAGCATCCAG -3'
Sequencing Primer
(F):5'- AGGTGGAGGATTTCCCAGCAC -3'
(R):5'- CTTAAAAAGCGGCAGTGTCTTCC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation