Incidental Mutation 'R5418:Plxnb2'
ID |
427881 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plxnb2
|
Ensembl Gene |
ENSMUSG00000036606 |
Gene Name |
plexin B2 |
Synonyms |
Debt, 1110007H23Rik |
MMRRC Submission |
042986-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.954)
|
Stock # |
R5418 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
89155549-89180788 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 89166491 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 421
(Y421H)
|
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: Y421H
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000051731 Gene: ENSMUSG00000036606 AA Change: Y421H
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: Y421H
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000104955 Gene: ENSMUSG00000036606 AA Change: Y421H
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 |
0.1357  |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
99% (81/82) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810474O19Rik |
T |
C |
6: 149,326,136 (GRCm38) |
Y227H |
probably damaging |
Het |
4930568D16Rik |
A |
G |
2: 35,354,726 (GRCm38) |
S205P |
probably damaging |
Het |
9530077C05Rik |
G |
T |
9: 22,431,770 (GRCm38) |
R187L |
probably damaging |
Het |
Abcc1 |
T |
C |
16: 14,461,132 (GRCm38) |
V1102A |
probably benign |
Het |
Acad8 |
A |
T |
9: 26,985,557 (GRCm38) |
M202K |
probably damaging |
Het |
Acoxl |
T |
A |
2: 127,877,802 (GRCm38) |
M161K |
probably benign |
Het |
Adamts4 |
T |
A |
1: 171,252,574 (GRCm38) |
V35E |
probably damaging |
Het |
Add2 |
A |
G |
6: 86,110,912 (GRCm38) |
S614G |
probably benign |
Het |
Adgrv1 |
T |
A |
13: 81,419,308 (GRCm38) |
I5249L |
probably benign |
Het |
Agps |
A |
G |
2: 75,858,904 (GRCm38) |
T252A |
probably damaging |
Het |
Alms1-ps1 |
G |
A |
6: 85,755,602 (GRCm38) |
|
noncoding transcript |
Het |
Ankrd24 |
T |
A |
10: 81,644,942 (GRCm38) |
|
probably benign |
Het |
Bcl9l |
A |
G |
9: 44,505,436 (GRCm38) |
Q218R |
possibly damaging |
Het |
Bin2 |
T |
C |
15: 100,649,146 (GRCm38) |
Y232C |
probably damaging |
Het |
Bptf |
A |
G |
11: 107,111,294 (GRCm38) |
Y331H |
probably damaging |
Het |
Ccr10 |
C |
T |
11: 101,174,078 (GRCm38) |
V209M |
probably benign |
Het |
Cflar |
A |
T |
1: 58,752,651 (GRCm38) |
D371V |
possibly damaging |
Het |
Col1a2 |
A |
G |
6: 4,516,931 (GRCm38) |
|
probably benign |
Het |
Crlf2 |
A |
G |
5: 109,557,033 (GRCm38) |
V104A |
probably benign |
Het |
Dennd1c |
CCGCCCCTCGCTGACAGC |
CC |
17: 57,066,755 (GRCm38) |
|
probably null |
Het |
Dmxl2 |
A |
G |
9: 54,374,651 (GRCm38) |
|
probably null |
Het |
Dnah17 |
C |
A |
11: 118,094,984 (GRCm38) |
E1422D |
probably benign |
Het |
Dnase1l1 |
C |
T |
X: 74,277,038 (GRCm38) |
|
probably null |
Het |
Efcab11 |
A |
G |
12: 99,855,618 (GRCm38) |
L80S |
possibly damaging |
Het |
Emc8 |
G |
A |
8: 120,658,603 (GRCm38) |
T130M |
probably damaging |
Het |
Epha6 |
C |
A |
16: 60,424,835 (GRCm38) |
A334S |
possibly damaging |
Het |
Erc2 |
A |
G |
14: 27,966,510 (GRCm38) |
M196V |
probably benign |
Het |
Etnk2 |
T |
C |
1: 133,373,257 (GRCm38) |
I254T |
probably damaging |
Het |
Fam120b |
C |
T |
17: 15,401,799 (GRCm38) |
T13M |
probably damaging |
Het |
Fam234b |
A |
G |
6: 135,226,968 (GRCm38) |
K423E |
probably benign |
Het |
Fcgbp |
G |
A |
7: 28,085,313 (GRCm38) |
G266D |
probably damaging |
Het |
Fndc4 |
A |
T |
5: 31,294,634 (GRCm38) |
S146R |
probably benign |
Het |
Frmd3 |
G |
A |
4: 74,161,698 (GRCm38) |
|
probably null |
Het |
Glrx2 |
C |
A |
1: 143,739,708 (GRCm38) |
S16R |
possibly damaging |
Het |
Gm26526 |
T |
G |
7: 39,588,934 (GRCm38) |
|
noncoding transcript |
Het |
Hc |
C |
T |
2: 35,008,183 (GRCm38) |
|
probably null |
Het |
Herc2 |
T |
C |
7: 56,137,565 (GRCm38) |
C1695R |
probably damaging |
Het |
Hic1 |
A |
G |
11: 75,166,599 (GRCm38) |
|
probably null |
Het |
Igkv4-92 |
A |
T |
6: 68,755,580 (GRCm38) |
V5E |
possibly damaging |
Het |
Irs1 |
G |
A |
1: 82,288,770 (GRCm38) |
T575I |
probably damaging |
Het |
Kcp |
A |
T |
6: 29,504,284 (GRCm38) |
Y143* |
probably null |
Het |
Klb |
A |
G |
5: 65,383,470 (GRCm38) |
N969D |
probably benign |
Het |
Klra6 |
T |
A |
6: 130,013,430 (GRCm38) |
L239F |
probably damaging |
Het |
Lhx6 |
A |
G |
2: 36,087,366 (GRCm38) |
|
probably null |
Het |
Lrrc34 |
G |
A |
3: 30,642,774 (GRCm38) |
P116S |
possibly damaging |
Het |
Map3k9 |
T |
A |
12: 81,743,817 (GRCm38) |
K321* |
probably null |
Het |
Mapk14 |
T |
C |
17: 28,741,843 (GRCm38) |
V196A |
possibly damaging |
Het |
Mmp1b |
T |
C |
9: 7,384,897 (GRCm38) |
I251V |
possibly damaging |
Het |
Mtmr12 |
T |
C |
15: 12,269,959 (GRCm38) |
L711P |
probably damaging |
Het |
Mylk |
T |
C |
16: 34,912,230 (GRCm38) |
S627P |
probably benign |
Het |
Nbea |
A |
T |
3: 55,645,989 (GRCm38) |
Y2631N |
possibly damaging |
Het |
Ncoa7 |
A |
G |
10: 30,648,039 (GRCm38) |
V153A |
probably damaging |
Het |
Olfr1252 |
T |
C |
2: 89,721,999 (GRCm38) |
I37M |
probably benign |
Het |
Pax6 |
A |
T |
2: 105,691,565 (GRCm38) |
D175V |
probably benign |
Het |
Piezo1 |
A |
G |
8: 122,486,780 (GRCm38) |
L1793P |
probably damaging |
Het |
Pkp4 |
T |
C |
2: 59,310,162 (GRCm38) |
V404A |
probably benign |
Het |
Prkdc |
T |
G |
16: 15,795,097 (GRCm38) |
V3173G |
probably benign |
Het |
Prss40 |
A |
T |
1: 34,560,759 (GRCm38) |
I49N |
probably benign |
Het |
Prx |
T |
A |
7: 27,517,274 (GRCm38) |
V400E |
probably damaging |
Het |
Rbm11 |
A |
C |
16: 75,596,535 (GRCm38) |
T40P |
probably damaging |
Het |
Scara5 |
CG |
C |
14: 65,759,662 (GRCm38) |
|
probably null |
Het |
Sema3f |
A |
G |
9: 107,692,621 (GRCm38) |
Y70H |
probably damaging |
Het |
Senp6 |
G |
A |
9: 80,121,869 (GRCm38) |
E505K |
possibly damaging |
Het |
Slc25a3 |
T |
C |
10: 91,119,536 (GRCm38) |
I147M |
probably benign |
Het |
Slc4a7 |
T |
A |
14: 14,760,280 (GRCm38) |
S572T |
probably benign |
Het |
Smarcal1 |
C |
T |
1: 72,598,909 (GRCm38) |
P501S |
probably benign |
Het |
Sox7 |
C |
T |
14: 63,947,947 (GRCm38) |
T144M |
probably benign |
Het |
Taar1 |
T |
C |
10: 23,921,316 (GRCm38) |
F304S |
possibly damaging |
Het |
Tcf3 |
A |
G |
10: 80,427,683 (GRCm38) |
F46L |
probably damaging |
Het |
Tmem184c |
A |
G |
8: 77,597,820 (GRCm38) |
V347A |
probably damaging |
Het |
Tpcn2 |
C |
T |
7: 145,278,781 (GRCm38) |
E113K |
probably damaging |
Het |
Vmn1r232 |
T |
A |
17: 20,914,116 (GRCm38) |
Y74F |
possibly damaging |
Het |
Vmn2r102 |
C |
T |
17: 19,694,153 (GRCm38) |
T660I |
probably damaging |
Het |
Zdhhc3 |
A |
G |
9: 123,080,391 (GRCm38) |
M234T |
probably damaging |
Het |
Zfp960 |
T |
A |
17: 17,087,543 (GRCm38) |
L173H |
probably damaging |
Het |
|
Other mutations in Plxnb2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00546:Plxnb2
|
APN |
15 |
89,162,366 (GRCm38) |
splice site |
probably benign |
|
IGL01574:Plxnb2
|
APN |
15 |
89,162,683 (GRCm38) |
splice site |
probably null |
|
IGL01695:Plxnb2
|
APN |
15 |
89,157,214 (GRCm38) |
missense |
possibly damaging |
0.96 |
IGL01763:Plxnb2
|
APN |
15 |
89,161,981 (GRCm38) |
splice site |
probably null |
|
IGL01921:Plxnb2
|
APN |
15 |
89,164,271 (GRCm38) |
missense |
possibly damaging |
0.78 |
IGL02129:Plxnb2
|
APN |
15 |
89,160,410 (GRCm38) |
missense |
probably benign |
0.04 |
IGL02153:Plxnb2
|
APN |
15 |
89,165,813 (GRCm38) |
nonsense |
probably null |
|
IGL02637:Plxnb2
|
APN |
15 |
89,164,057 (GRCm38) |
missense |
possibly damaging |
0.53 |
IGL02892:Plxnb2
|
APN |
15 |
89,161,222 (GRCm38) |
critical splice donor site |
probably null |
|
IGL03108:Plxnb2
|
APN |
15 |
89,158,031 (GRCm38) |
missense |
probably benign |
0.32 |
IGL03115:Plxnb2
|
APN |
15 |
89,162,438 (GRCm38) |
splice site |
probably benign |
|
P0040:Plxnb2
|
UTSW |
15 |
89,162,935 (GRCm38) |
missense |
probably damaging |
1.00 |
R0022:Plxnb2
|
UTSW |
15 |
89,163,276 (GRCm38) |
critical splice donor site |
probably null |
|
R0095:Plxnb2
|
UTSW |
15 |
89,165,331 (GRCm38) |
missense |
probably benign |
|
R0103:Plxnb2
|
UTSW |
15 |
89,161,769 (GRCm38) |
missense |
possibly damaging |
0.85 |
R0544:Plxnb2
|
UTSW |
15 |
89,158,613 (GRCm38) |
splice site |
probably benign |
|
R0671:Plxnb2
|
UTSW |
15 |
89,157,981 (GRCm38) |
missense |
probably benign |
0.14 |
R1279:Plxnb2
|
UTSW |
15 |
89,162,321 (GRCm38) |
missense |
probably benign |
0.02 |
R1530:Plxnb2
|
UTSW |
15 |
89,167,192 (GRCm38) |
missense |
probably benign |
|
R1542:Plxnb2
|
UTSW |
15 |
89,165,921 (GRCm38) |
missense |
probably damaging |
1.00 |
R1610:Plxnb2
|
UTSW |
15 |
89,158,493 (GRCm38) |
missense |
probably damaging |
1.00 |
R1686:Plxnb2
|
UTSW |
15 |
89,162,462 (GRCm38) |
missense |
probably damaging |
1.00 |
R1702:Plxnb2
|
UTSW |
15 |
89,161,984 (GRCm38) |
critical splice donor site |
probably null |
|
R1996:Plxnb2
|
UTSW |
15 |
89,158,768 (GRCm38) |
missense |
probably benign |
0.13 |
R1997:Plxnb2
|
UTSW |
15 |
89,158,768 (GRCm38) |
missense |
probably benign |
0.13 |
R2031:Plxnb2
|
UTSW |
15 |
89,162,810 (GRCm38) |
nonsense |
probably null |
|
R2049:Plxnb2
|
UTSW |
15 |
89,159,002 (GRCm38) |
missense |
probably damaging |
1.00 |
R2072:Plxnb2
|
UTSW |
15 |
89,158,451 (GRCm38) |
missense |
probably damaging |
1.00 |
R2076:Plxnb2
|
UTSW |
15 |
89,158,026 (GRCm38) |
missense |
probably damaging |
1.00 |
R2140:Plxnb2
|
UTSW |
15 |
89,156,562 (GRCm38) |
missense |
probably benign |
0.04 |
R2418:Plxnb2
|
UTSW |
15 |
89,161,069 (GRCm38) |
missense |
possibly damaging |
0.72 |
R2419:Plxnb2
|
UTSW |
15 |
89,161,069 (GRCm38) |
missense |
possibly damaging |
0.72 |
R3752:Plxnb2
|
UTSW |
15 |
89,157,255 (GRCm38) |
splice site |
probably benign |
|
R3825:Plxnb2
|
UTSW |
15 |
89,166,399 (GRCm38) |
missense |
probably benign |
0.05 |
R4154:Plxnb2
|
UTSW |
15 |
89,159,642 (GRCm38) |
missense |
probably damaging |
0.98 |
R4197:Plxnb2
|
UTSW |
15 |
89,157,018 (GRCm38) |
missense |
probably damaging |
1.00 |
R4385:Plxnb2
|
UTSW |
15 |
89,160,623 (GRCm38) |
missense |
probably damaging |
0.96 |
R4434:Plxnb2
|
UTSW |
15 |
89,162,803 (GRCm38) |
missense |
probably damaging |
1.00 |
R4678:Plxnb2
|
UTSW |
15 |
89,160,928 (GRCm38) |
missense |
probably benign |
0.37 |
R4717:Plxnb2
|
UTSW |
15 |
89,157,419 (GRCm38) |
nonsense |
probably null |
|
R4773:Plxnb2
|
UTSW |
15 |
89,166,947 (GRCm38) |
missense |
probably benign |
0.06 |
R4905:Plxnb2
|
UTSW |
15 |
89,157,411 (GRCm38) |
missense |
probably damaging |
1.00 |
R5368:Plxnb2
|
UTSW |
15 |
89,159,593 (GRCm38) |
missense |
possibly damaging |
0.94 |
R5484:Plxnb2
|
UTSW |
15 |
89,164,209 (GRCm38) |
splice site |
probably null |
|
R5520:Plxnb2
|
UTSW |
15 |
89,167,543 (GRCm38) |
missense |
possibly damaging |
0.65 |
R5566:Plxnb2
|
UTSW |
15 |
89,164,020 (GRCm38) |
missense |
probably benign |
0.05 |
R5568:Plxnb2
|
UTSW |
15 |
89,157,435 (GRCm38) |
missense |
probably damaging |
1.00 |
R5619:Plxnb2
|
UTSW |
15 |
89,162,809 (GRCm38) |
missense |
possibly damaging |
0.92 |
R5685:Plxnb2
|
UTSW |
15 |
89,167,032 (GRCm38) |
missense |
probably damaging |
1.00 |
R5688:Plxnb2
|
UTSW |
15 |
89,158,696 (GRCm38) |
missense |
probably damaging |
1.00 |
R5809:Plxnb2
|
UTSW |
15 |
89,167,571 (GRCm38) |
missense |
possibly damaging |
0.61 |
R5813:Plxnb2
|
UTSW |
15 |
89,160,759 (GRCm38) |
missense |
possibly damaging |
0.81 |
R5866:Plxnb2
|
UTSW |
15 |
89,167,572 (GRCm38) |
missense |
probably damaging |
1.00 |
R6016:Plxnb2
|
UTSW |
15 |
89,161,022 (GRCm38) |
missense |
possibly damaging |
0.55 |
R6117:Plxnb2
|
UTSW |
15 |
89,158,000 (GRCm38) |
missense |
probably benign |
0.04 |
R6187:Plxnb2
|
UTSW |
15 |
89,167,258 (GRCm38) |
missense |
probably damaging |
1.00 |
R6260:Plxnb2
|
UTSW |
15 |
89,165,291 (GRCm38) |
missense |
probably benign |
0.22 |
R6263:Plxnb2
|
UTSW |
15 |
89,161,986 (GRCm38) |
missense |
probably damaging |
0.99 |
R6269:Plxnb2
|
UTSW |
15 |
89,160,713 (GRCm38) |
missense |
probably benign |
0.18 |
R6351:Plxnb2
|
UTSW |
15 |
89,157,770 (GRCm38) |
missense |
possibly damaging |
0.95 |
R6522:Plxnb2
|
UTSW |
15 |
89,164,426 (GRCm38) |
missense |
probably benign |
0.18 |
R6856:Plxnb2
|
UTSW |
15 |
89,164,320 (GRCm38) |
missense |
probably benign |
0.27 |
R6930:Plxnb2
|
UTSW |
15 |
89,160,389 (GRCm38) |
missense |
probably benign |
|
R7354:Plxnb2
|
UTSW |
15 |
89,165,725 (GRCm38) |
missense |
possibly damaging |
0.92 |
R7513:Plxnb2
|
UTSW |
15 |
89,158,322 (GRCm38) |
critical splice acceptor site |
probably null |
|
R7522:Plxnb2
|
UTSW |
15 |
89,161,774 (GRCm38) |
missense |
probably benign |
0.20 |
R7730:Plxnb2
|
UTSW |
15 |
89,162,330 (GRCm38) |
missense |
probably benign |
|
R7766:Plxnb2
|
UTSW |
15 |
89,161,271 (GRCm38) |
missense |
probably benign |
0.01 |
R7781:Plxnb2
|
UTSW |
15 |
89,157,022 (GRCm38) |
missense |
possibly damaging |
0.89 |
R8126:Plxnb2
|
UTSW |
15 |
89,163,303 (GRCm38) |
missense |
probably benign |
|
R8131:Plxnb2
|
UTSW |
15 |
89,158,713 (GRCm38) |
missense |
probably damaging |
1.00 |
R8372:Plxnb2
|
UTSW |
15 |
89,158,493 (GRCm38) |
missense |
probably damaging |
1.00 |
R8736:Plxnb2
|
UTSW |
15 |
89,162,058 (GRCm38) |
missense |
probably damaging |
1.00 |
R8772:Plxnb2
|
UTSW |
15 |
89,162,746 (GRCm38) |
missense |
probably damaging |
1.00 |
R9022:Plxnb2
|
UTSW |
15 |
89,164,268 (GRCm38) |
missense |
possibly damaging |
0.59 |
R9044:Plxnb2
|
UTSW |
15 |
89,160,363 (GRCm38) |
splice site |
probably benign |
|
R9253:Plxnb2
|
UTSW |
15 |
89,167,812 (GRCm38) |
missense |
probably benign |
|
R9398:Plxnb2
|
UTSW |
15 |
89,160,919 (GRCm38) |
missense |
probably benign |
0.02 |
R9562:Plxnb2
|
UTSW |
15 |
89,165,933 (GRCm38) |
missense |
probably damaging |
1.00 |
R9568:Plxnb2
|
UTSW |
15 |
89,160,957 (GRCm38) |
nonsense |
probably null |
|
R9613:Plxnb2
|
UTSW |
15 |
89,164,293 (GRCm38) |
missense |
probably benign |
0.01 |
X0027:Plxnb2
|
UTSW |
15 |
89,160,713 (GRCm38) |
missense |
probably benign |
0.18 |
Z1177:Plxnb2
|
UTSW |
15 |
89,159,096 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AATGGTGCTATGAAGACTCAGAGAC -3'
(R):5'- AATCTGACAGCAGTGACAGTAAC -3'
Sequencing Primer
(F):5'- GAGACAGGAGCCCAGACTC -3'
(R):5'- TGACAGTAACTGCCGAGAATGACC -3'
|
Posted On |
2016-09-01 |