Incidental Mutation 'R5418:Plxnb2'
ID |
427881 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plxnb2
|
Ensembl Gene |
ENSMUSG00000036606 |
Gene Name |
plexin B2 |
Synonyms |
1110007H23Rik, Debt |
MMRRC Submission |
042986-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.943)
|
Stock # |
R5418 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
89039752-89064960 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 89050694 bp (GRCm39)
|
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 |
4930568D16Rik |
A |
G |
2: 35,244,738 (GRCm39) |
S205P |
probably damaging |
Het |
Abcc1 |
T |
C |
16: 14,278,996 (GRCm39) |
V1102A |
probably benign |
Het |
Acad8 |
A |
T |
9: 26,896,853 (GRCm39) |
M202K |
probably damaging |
Het |
Acoxl |
T |
A |
2: 127,719,722 (GRCm39) |
M161K |
probably benign |
Het |
Adamts4 |
T |
A |
1: 171,080,143 (GRCm39) |
V35E |
probably damaging |
Het |
Add2 |
A |
G |
6: 86,087,894 (GRCm39) |
S614G |
probably benign |
Het |
Adgrv1 |
T |
A |
13: 81,567,427 (GRCm39) |
I5249L |
probably benign |
Het |
Agps |
A |
G |
2: 75,689,248 (GRCm39) |
T252A |
probably damaging |
Het |
Alms1-ps1 |
G |
A |
6: 85,732,584 (GRCm39) |
|
noncoding transcript |
Het |
Ankrd24 |
T |
A |
10: 81,480,776 (GRCm39) |
|
probably benign |
Het |
Bcl9l |
A |
G |
9: 44,416,733 (GRCm39) |
Q218R |
possibly damaging |
Het |
Bin2 |
T |
C |
15: 100,547,027 (GRCm39) |
Y232C |
probably damaging |
Het |
Bptf |
A |
G |
11: 107,002,120 (GRCm39) |
Y331H |
probably damaging |
Het |
Ccr10 |
C |
T |
11: 101,064,904 (GRCm39) |
V209M |
probably benign |
Het |
Cflar |
A |
T |
1: 58,791,810 (GRCm39) |
D371V |
possibly damaging |
Het |
Col1a2 |
A |
G |
6: 4,516,931 (GRCm39) |
|
probably benign |
Het |
Crlf2 |
A |
G |
5: 109,704,899 (GRCm39) |
V104A |
probably benign |
Het |
Dennd1c |
CCGCCCCTCGCTGACAGC |
CC |
17: 57,373,755 (GRCm39) |
|
probably null |
Het |
Dmxl2 |
A |
G |
9: 54,281,935 (GRCm39) |
|
probably null |
Het |
Dnah17 |
C |
A |
11: 117,985,810 (GRCm39) |
E1422D |
probably benign |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Efcab11 |
A |
G |
12: 99,821,877 (GRCm39) |
L80S |
possibly damaging |
Het |
Emc8 |
G |
A |
8: 121,385,342 (GRCm39) |
T130M |
probably damaging |
Het |
Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
Erc2 |
A |
G |
14: 27,688,467 (GRCm39) |
M196V |
probably benign |
Het |
Etnk2 |
T |
C |
1: 133,300,995 (GRCm39) |
I254T |
probably damaging |
Het |
Fam120b |
C |
T |
17: 15,622,061 (GRCm39) |
T13M |
probably damaging |
Het |
Fam234b |
A |
G |
6: 135,203,966 (GRCm39) |
K423E |
probably benign |
Het |
Fcgbp |
G |
A |
7: 27,784,738 (GRCm39) |
G266D |
probably damaging |
Het |
Fndc4 |
A |
T |
5: 31,451,978 (GRCm39) |
S146R |
probably benign |
Het |
Frmd3 |
G |
A |
4: 74,079,935 (GRCm39) |
|
probably null |
Het |
Glrx2 |
C |
A |
1: 143,615,446 (GRCm39) |
S16R |
possibly damaging |
Het |
Gm26526 |
T |
G |
7: 39,238,358 (GRCm39) |
|
noncoding transcript |
Het |
Hc |
C |
T |
2: 34,898,195 (GRCm39) |
|
probably null |
Het |
Herc2 |
T |
C |
7: 55,787,313 (GRCm39) |
C1695R |
probably damaging |
Het |
Hic1 |
A |
G |
11: 75,057,425 (GRCm39) |
|
probably null |
Het |
Igkv4-92 |
A |
T |
6: 68,732,564 (GRCm39) |
V5E |
possibly damaging |
Het |
Irs1 |
G |
A |
1: 82,266,491 (GRCm39) |
T575I |
probably damaging |
Het |
Kcp |
A |
T |
6: 29,504,283 (GRCm39) |
Y143* |
probably null |
Het |
Klb |
A |
G |
5: 65,540,813 (GRCm39) |
N969D |
probably benign |
Het |
Klra6 |
T |
A |
6: 129,990,393 (GRCm39) |
L239F |
probably damaging |
Het |
Lhx6 |
A |
G |
2: 35,977,378 (GRCm39) |
|
probably null |
Het |
Lrrc34 |
G |
A |
3: 30,696,923 (GRCm39) |
P116S |
possibly damaging |
Het |
Map3k9 |
T |
A |
12: 81,790,591 (GRCm39) |
K321* |
probably null |
Het |
Mapk14 |
T |
C |
17: 28,960,817 (GRCm39) |
V196A |
possibly damaging |
Het |
Matcap2 |
G |
T |
9: 22,343,066 (GRCm39) |
R187L |
probably damaging |
Het |
Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
Mtmr12 |
T |
C |
15: 12,270,045 (GRCm39) |
L711P |
probably damaging |
Het |
Mylk |
T |
C |
16: 34,732,600 (GRCm39) |
S627P |
probably benign |
Het |
Nbea |
A |
T |
3: 55,553,410 (GRCm39) |
Y2631N |
possibly damaging |
Het |
Ncoa7 |
A |
G |
10: 30,524,035 (GRCm39) |
V153A |
probably damaging |
Het |
Or4a79 |
T |
C |
2: 89,552,343 (GRCm39) |
I37M |
probably benign |
Het |
Pax6 |
A |
T |
2: 105,521,910 (GRCm39) |
D175V |
probably benign |
Het |
Piezo1 |
A |
G |
8: 123,213,519 (GRCm39) |
L1793P |
probably damaging |
Het |
Pkp4 |
T |
C |
2: 59,140,506 (GRCm39) |
V404A |
probably benign |
Het |
Prkdc |
T |
G |
16: 15,612,961 (GRCm39) |
V3173G |
probably benign |
Het |
Prss40 |
A |
T |
1: 34,599,840 (GRCm39) |
I49N |
probably benign |
Het |
Prx |
T |
A |
7: 27,216,699 (GRCm39) |
V400E |
probably damaging |
Het |
Rbm11 |
A |
C |
16: 75,393,423 (GRCm39) |
T40P |
probably damaging |
Het |
Resf1 |
T |
C |
6: 149,227,634 (GRCm39) |
Y227H |
probably damaging |
Het |
Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
Sema3f |
A |
G |
9: 107,569,820 (GRCm39) |
Y70H |
probably damaging |
Het |
Senp6 |
G |
A |
9: 80,029,151 (GRCm39) |
E505K |
possibly damaging |
Het |
Slc25a3 |
T |
C |
10: 90,955,398 (GRCm39) |
I147M |
probably benign |
Het |
Slc4a7 |
T |
A |
14: 14,760,280 (GRCm38) |
S572T |
probably benign |
Het |
Smarcal1 |
C |
T |
1: 72,638,068 (GRCm39) |
P501S |
probably benign |
Het |
Sox7 |
C |
T |
14: 64,185,396 (GRCm39) |
T144M |
probably benign |
Het |
Taar1 |
T |
C |
10: 23,797,214 (GRCm39) |
F304S |
possibly damaging |
Het |
Tcf3 |
A |
G |
10: 80,263,517 (GRCm39) |
F46L |
probably damaging |
Het |
Tmem184c |
A |
G |
8: 78,324,449 (GRCm39) |
V347A |
probably damaging |
Het |
Tpcn2 |
C |
T |
7: 144,832,518 (GRCm39) |
E113K |
probably damaging |
Het |
Vmn1r232 |
T |
A |
17: 21,134,378 (GRCm39) |
Y74F |
possibly damaging |
Het |
Vmn2r102 |
C |
T |
17: 19,914,415 (GRCm39) |
T660I |
probably damaging |
Het |
Zdhhc3 |
A |
G |
9: 122,909,456 (GRCm39) |
M234T |
probably damaging |
Het |
Zfp960 |
T |
A |
17: 17,307,805 (GRCm39) |
L173H |
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 |
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 |
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'- AATGGTGCTATGAAGACTCAGAGAC -3'
(R):5'- AATCTGACAGCAGTGACAGTAAC -3'
Sequencing Primer
(F):5'- GAGACAGGAGCCCAGACTC -3'
(R):5'- TGACAGTAACTGCCGAGAATGACC -3'
|
Posted On |
2016-09-01 |