Incidental Mutation 'R1610:Plxnb2'
ID |
176758 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plxnb2
|
Ensembl Gene |
ENSMUSG00000036606 |
Gene Name |
plexin B2 |
Synonyms |
1110007H23Rik, Debt |
MMRRC Submission |
039647-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.938)
|
Stock # |
R1610 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
89039752-89064960 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 89042696 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 1531
(S1531T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060808]
[ENSMUST00000109331]
|
AlphaFold |
B2RXS4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060808
AA Change: S1531T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000051731 Gene: ENSMUSG00000036606 AA Change: S1531T
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 damaging
Transcript: ENSMUST00000109331
AA Change: S1531T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104955 Gene: ENSMUSG00000036606 AA Change: S1531T
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: ENSMUST00000139372
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143014
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151418
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197760
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230393
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229966
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acbd5 |
G |
A |
2: 22,980,563 (GRCm39) |
C312Y |
probably damaging |
Het |
Adgrl1 |
T |
A |
8: 84,659,002 (GRCm39) |
M601K |
probably benign |
Het |
Agbl4 |
G |
A |
4: 111,514,365 (GRCm39) |
E459K |
probably benign |
Het |
Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
Casz1 |
C |
T |
4: 149,013,544 (GRCm39) |
A36V |
possibly damaging |
Het |
Cfap20dc |
G |
T |
14: 8,511,110 (GRCm38) |
H435N |
probably benign |
Het |
Chpf |
A |
G |
1: 75,453,292 (GRCm39) |
V327A |
probably damaging |
Het |
Cldn23 |
A |
G |
8: 36,293,084 (GRCm39) |
Y135H |
probably damaging |
Het |
Cobll1 |
C |
T |
2: 64,963,986 (GRCm39) |
D211N |
probably damaging |
Het |
Cramp1 |
A |
G |
17: 25,202,925 (GRCm39) |
V368A |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,121,946 (GRCm39) |
T1374A |
probably benign |
Het |
Dpyd |
A |
G |
3: 118,858,655 (GRCm39) |
H623R |
probably benign |
Het |
Dyrk2 |
T |
C |
10: 118,695,830 (GRCm39) |
N476S |
probably benign |
Het |
Endog |
A |
T |
2: 30,063,899 (GRCm39) |
I267F |
probably damaging |
Het |
Ephb6 |
A |
T |
6: 41,591,307 (GRCm39) |
K155* |
probably null |
Het |
Far2 |
T |
C |
6: 148,058,956 (GRCm39) |
V214A |
possibly damaging |
Het |
Fat2 |
A |
G |
11: 55,169,750 (GRCm39) |
V3003A |
probably damaging |
Het |
Frg2f1 |
T |
A |
4: 119,388,485 (GRCm39) |
T5S |
possibly damaging |
Het |
Gm14496 |
A |
T |
2: 181,637,972 (GRCm39) |
T349S |
probably benign |
Het |
Golgb1 |
A |
G |
16: 36,746,463 (GRCm39) |
T2951A |
probably benign |
Het |
Hc |
G |
T |
2: 34,896,173 (GRCm39) |
D1203E |
probably benign |
Het |
Isg20 |
C |
A |
7: 78,564,257 (GRCm39) |
Q55K |
possibly damaging |
Het |
Jph4 |
G |
T |
14: 55,351,560 (GRCm39) |
A152E |
probably damaging |
Het |
Kcnq3 |
T |
C |
15: 65,897,109 (GRCm39) |
T264A |
probably damaging |
Het |
Kcnq5 |
T |
G |
1: 21,527,685 (GRCm39) |
T463P |
probably damaging |
Het |
Klra8 |
A |
G |
6: 130,095,981 (GRCm39) |
S204P |
probably damaging |
Het |
Ldlrad1 |
A |
G |
4: 107,072,072 (GRCm39) |
D98G |
probably damaging |
Het |
Lhfpl4 |
T |
C |
6: 113,171,097 (GRCm39) |
T30A |
possibly damaging |
Het |
Lig1 |
T |
A |
7: 13,019,266 (GRCm39) |
L80Q |
probably damaging |
Het |
Lmbrd2 |
A |
G |
15: 9,186,699 (GRCm39) |
Y558C |
probably benign |
Het |
Lrrn3 |
G |
T |
12: 41,502,992 (GRCm39) |
L442I |
possibly damaging |
Het |
Mc2r |
A |
G |
18: 68,540,519 (GRCm39) |
F258S |
probably damaging |
Het |
Mmp16 |
A |
G |
4: 18,011,582 (GRCm39) |
T137A |
probably benign |
Het |
Nfatc2ip |
A |
T |
7: 125,986,579 (GRCm39) |
S359T |
probably damaging |
Het |
Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
Nup50l |
G |
T |
6: 96,142,270 (GRCm39) |
P258Q |
probably damaging |
Het |
Or10a48 |
T |
A |
7: 108,425,131 (GRCm39) |
H25L |
probably benign |
Het |
Or4c15b |
T |
C |
2: 89,113,165 (GRCm39) |
H104R |
probably damaging |
Het |
Or4s2b |
A |
T |
2: 88,508,918 (GRCm39) |
K233* |
probably null |
Het |
Or8b1b |
C |
T |
9: 38,375,927 (GRCm39) |
L197F |
probably damaging |
Het |
Pacc1 |
A |
G |
1: 191,077,262 (GRCm39) |
D195G |
probably benign |
Het |
Plagl1 |
C |
T |
10: 13,004,706 (GRCm39) |
|
probably benign |
Het |
Ptpn22 |
G |
A |
3: 103,809,512 (GRCm39) |
|
probably null |
Het |
Rtn1 |
T |
A |
12: 72,266,053 (GRCm39) |
Q174L |
possibly damaging |
Het |
Selenoo |
A |
G |
15: 88,984,119 (GRCm39) |
E645G |
probably benign |
Het |
Serpina1a |
A |
C |
12: 103,820,096 (GRCm39) |
D383E |
possibly damaging |
Het |
Slc6a18 |
T |
A |
13: 73,816,344 (GRCm39) |
Y345F |
probably benign |
Het |
Smbd1 |
A |
G |
16: 32,627,135 (GRCm39) |
V51A |
possibly damaging |
Het |
Tchh |
C |
T |
3: 93,352,146 (GRCm39) |
R529W |
unknown |
Het |
Tonsl |
A |
T |
15: 76,522,757 (GRCm39) |
Y165N |
probably damaging |
Het |
Trdmt1 |
G |
A |
2: 13,520,870 (GRCm39) |
T344I |
probably damaging |
Het |
Ubash3b |
C |
A |
9: 40,954,796 (GRCm39) |
R116L |
probably damaging |
Het |
Vmn2r94 |
A |
G |
17: 18,463,995 (GRCm39) |
V765A |
probably damaging |
Het |
Zfp474 |
C |
T |
18: 52,771,437 (GRCm39) |
T30I |
probably benign |
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 |
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'- ATAGACTTACGCTCCCCTGGCAAG -3'
(R):5'- AGGTCCTCAACTGTGACACCATCTC -3'
Sequencing Primer
(F):5'- TCCCACCTTAGACAGGATGAG -3'
(R):5'- ACTGTGACACCATCTCTCAGG -3'
|
Posted On |
2014-04-24 |