Incidental Mutation 'R1530:Plxnb2'
ID |
166588 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plxnb2
|
Ensembl Gene |
ENSMUSG00000036606 |
Gene Name |
plexin B2 |
Synonyms |
1110007H23Rik, Debt |
MMRRC Submission |
039569-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.938)
|
Stock # |
R1530 (G1)
|
Quality Score |
210 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
89039752-89064960 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 89051395 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 275
(S275P)
|
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: S275P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000051731 Gene: ENSMUSG00000036606 AA Change: S275P
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: S275P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000104955 Gene: ENSMUSG00000036606 AA Change: S275P
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: ENSMUST00000197760
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl6b |
T |
C |
5: 137,567,640 (GRCm39) |
C425R |
probably damaging |
Het |
Adam15 |
A |
G |
3: 89,257,137 (GRCm39) |
S20P |
probably damaging |
Het |
Adgra3 |
G |
A |
5: 50,118,479 (GRCm39) |
T1023I |
probably benign |
Het |
Angel2 |
T |
A |
1: 190,671,285 (GRCm39) |
V46E |
probably damaging |
Het |
Ankrd13c |
T |
A |
3: 157,697,358 (GRCm39) |
M321K |
probably damaging |
Het |
Atad2b |
C |
T |
12: 4,992,018 (GRCm39) |
R206* |
probably null |
Het |
Atp10b |
T |
A |
11: 43,088,351 (GRCm39) |
F319Y |
probably benign |
Het |
AW554918 |
A |
G |
18: 25,533,161 (GRCm39) |
R272G |
probably damaging |
Het |
Bpi |
T |
A |
2: 158,103,065 (GRCm39) |
I70N |
probably damaging |
Het |
Brca1 |
T |
C |
11: 101,415,521 (GRCm39) |
D871G |
probably damaging |
Het |
Capn3 |
G |
A |
2: 120,312,689 (GRCm39) |
A160T |
probably damaging |
Het |
Cenpe |
T |
C |
3: 134,952,663 (GRCm39) |
L1451P |
possibly damaging |
Het |
Chmp7 |
A |
G |
14: 69,969,937 (GRCm39) |
M1T |
probably null |
Het |
Csrnp1 |
G |
C |
9: 119,802,612 (GRCm39) |
Q200E |
possibly damaging |
Het |
Dscam |
G |
A |
16: 96,621,074 (GRCm39) |
P545S |
probably damaging |
Het |
Erap1 |
A |
G |
13: 74,794,662 (GRCm39) |
E107G |
probably benign |
Het |
Errfi1 |
A |
G |
4: 150,949,843 (GRCm39) |
I49V |
probably benign |
Het |
Fam171b |
T |
C |
2: 83,710,533 (GRCm39) |
L735S |
probably damaging |
Het |
Fancm |
T |
A |
12: 65,139,264 (GRCm39) |
|
probably null |
Het |
Fbp2 |
G |
C |
13: 62,984,973 (GRCm39) |
P316R |
probably damaging |
Het |
Fcer2a |
C |
A |
8: 3,732,976 (GRCm39) |
G255V |
probably damaging |
Het |
Fhip2a |
T |
A |
19: 57,374,737 (GRCm39) |
I704N |
probably damaging |
Het |
Fzd2 |
T |
C |
11: 102,496,134 (GRCm39) |
S193P |
probably benign |
Het |
Gak |
A |
G |
5: 108,772,059 (GRCm39) |
V86A |
probably damaging |
Het |
Gas2l3 |
A |
G |
10: 89,269,631 (GRCm39) |
I7T |
probably benign |
Het |
Gbp11 |
T |
C |
5: 105,475,355 (GRCm39) |
H331R |
probably damaging |
Het |
Gpr19 |
C |
T |
6: 134,846,961 (GRCm39) |
V241M |
probably damaging |
Het |
Grk6 |
G |
A |
13: 55,606,612 (GRCm39) |
A437T |
probably damaging |
Het |
Hip1 |
T |
C |
5: 135,473,634 (GRCm39) |
D253G |
probably damaging |
Het |
Ifna9 |
G |
C |
4: 88,510,409 (GRCm39) |
Q72E |
possibly damaging |
Het |
Il1r1 |
A |
G |
1: 40,351,521 (GRCm39) |
T384A |
probably benign |
Het |
Ip6k1 |
C |
A |
9: 107,922,761 (GRCm39) |
C221* |
probably null |
Het |
Kcna1 |
C |
A |
6: 126,619,494 (GRCm39) |
E275D |
probably benign |
Het |
Kcnt2 |
C |
T |
1: 140,411,970 (GRCm39) |
Q468* |
probably null |
Het |
Kin |
T |
C |
2: 10,097,150 (GRCm39) |
V333A |
probably damaging |
Het |
Leprot |
G |
T |
4: 101,513,484 (GRCm39) |
V91L |
probably benign |
Het |
Mettl21c |
A |
G |
1: 44,056,344 (GRCm39) |
|
probably null |
Het |
Myom2 |
T |
C |
8: 15,172,384 (GRCm39) |
F1161S |
probably damaging |
Het |
Ndor1 |
A |
G |
2: 25,138,921 (GRCm39) |
L321P |
probably benign |
Het |
Nipal2 |
A |
T |
15: 34,625,168 (GRCm39) |
*72K |
probably null |
Het |
Nol3 |
T |
C |
8: 106,005,858 (GRCm39) |
V84A |
probably benign |
Het |
Or2y16 |
C |
T |
11: 49,334,732 (GRCm39) |
S18L |
probably benign |
Het |
Or4c101 |
A |
T |
2: 88,389,827 (GRCm39) |
I5F |
probably benign |
Het |
Or8b42 |
T |
C |
9: 38,341,620 (GRCm39) |
I14T |
probably damaging |
Het |
Pcare |
A |
G |
17: 72,056,473 (GRCm39) |
V1068A |
probably benign |
Het |
Pdgfra |
T |
A |
5: 75,349,671 (GRCm39) |
|
probably null |
Het |
Pik3cb |
T |
C |
9: 98,936,026 (GRCm39) |
D802G |
probably damaging |
Het |
Plac8l1 |
A |
T |
18: 42,311,996 (GRCm39) |
V141E |
probably damaging |
Het |
Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
Rapgef6 |
T |
A |
11: 54,552,009 (GRCm39) |
I959K |
probably damaging |
Het |
Scn5a |
T |
C |
9: 119,324,628 (GRCm39) |
K1400R |
probably damaging |
Het |
Sel1l |
A |
G |
12: 91,793,458 (GRCm39) |
S263P |
probably damaging |
Het |
Setd5 |
G |
A |
6: 113,086,874 (GRCm39) |
V34I |
probably damaging |
Het |
Slc34a1 |
A |
G |
13: 24,003,052 (GRCm39) |
D234G |
probably damaging |
Het |
Spink5 |
T |
A |
18: 44,148,738 (GRCm39) |
S934T |
probably damaging |
Het |
St18 |
A |
C |
1: 6,915,793 (GRCm39) |
|
probably null |
Het |
St3gal4 |
T |
C |
9: 34,963,592 (GRCm39) |
I239V |
probably benign |
Het |
Stag3 |
C |
T |
5: 138,295,674 (GRCm39) |
T399I |
probably damaging |
Het |
Syt11 |
T |
C |
3: 88,669,674 (GRCm39) |
K6E |
probably damaging |
Het |
Taf15 |
T |
C |
11: 83,378,122 (GRCm39) |
Y121H |
possibly damaging |
Het |
Tdh |
T |
C |
14: 63,733,504 (GRCm39) |
Y113C |
probably damaging |
Het |
Tgfbr1 |
T |
A |
4: 47,410,688 (GRCm39) |
W406R |
probably damaging |
Het |
Tgm6 |
A |
G |
2: 129,993,202 (GRCm39) |
I563V |
possibly damaging |
Het |
Tmem131 |
A |
G |
1: 36,866,090 (GRCm39) |
|
probably null |
Het |
Tmub2 |
T |
C |
11: 102,178,312 (GRCm39) |
S72P |
probably benign |
Het |
Trappc13 |
G |
A |
13: 104,286,651 (GRCm39) |
T202I |
probably damaging |
Het |
Trim9 |
T |
C |
12: 70,319,202 (GRCm39) |
E449G |
probably damaging |
Het |
Trip11 |
C |
A |
12: 101,879,026 (GRCm39) |
G21V |
unknown |
Het |
Ttll12 |
G |
A |
15: 83,472,856 (GRCm39) |
R127C |
probably damaging |
Het |
Vmn2r125 |
A |
T |
4: 156,703,447 (GRCm39) |
Y275F |
probably damaging |
Het |
Xrcc5 |
A |
G |
1: 72,369,103 (GRCm39) |
D319G |
probably damaging |
Het |
Zc3h14 |
T |
G |
12: 98,751,262 (GRCm39) |
C159W |
probably damaging |
Het |
Zc3h7b |
C |
T |
15: 81,661,289 (GRCm39) |
P376L |
probably benign |
Het |
Zfhx3 |
C |
T |
8: 109,675,121 (GRCm39) |
P2057L |
probably 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 |
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 |
|
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'- TGTGGATCACAGCATCAGGACCAG -3'
(R):5'- TACTCAGCAGTTTGTCGCAGCC -3'
Sequencing Primer
(F):5'- CTACTAGGGCTCCAAGCTATAGG -3'
(R):5'- CGCAGCCTTTGAGGATGATTTC -3'
|
Posted On |
2014-04-13 |