Incidental Mutation 'R5619:Plxnb2'
ID |
439738 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plxnb2
|
Ensembl Gene |
ENSMUSG00000036606 |
Gene Name |
plexin B2 |
Synonyms |
1110007H23Rik, Debt |
MMRRC Submission |
043278-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.938)
|
Stock # |
R5619 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
89039752-89064960 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 89047012 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 770
(S770G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060808]
[ENSMUST00000109331]
|
AlphaFold |
B2RXS4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060808
AA Change: S770G
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000051731 Gene: ENSMUSG00000036606 AA Change: S770G
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 |
possibly damaging
Transcript: ENSMUST00000109331
AA Change: S770G
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000104955 Gene: ENSMUSG00000036606 AA Change: S770G
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230393
|
Meta Mutation Damage Score |
0.7740 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
99% (80/81) |
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 |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
Adgre1 |
T |
G |
17: 57,727,437 (GRCm39) |
L456V |
probably benign |
Het |
Adgrv1 |
C |
T |
13: 81,620,619 (GRCm39) |
G3943R |
probably damaging |
Het |
Akap9 |
A |
G |
5: 4,004,760 (GRCm39) |
|
probably benign |
Het |
Atp1a2 |
T |
A |
1: 172,106,948 (GRCm39) |
I791F |
probably damaging |
Het |
BC004004 |
C |
G |
17: 29,501,703 (GRCm39) |
P81A |
probably damaging |
Het |
Brca2 |
C |
A |
5: 150,480,579 (GRCm39) |
T2755K |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 118,719,322 (GRCm39) |
D215G |
probably damaging |
Het |
Ccdc142 |
C |
T |
6: 83,080,603 (GRCm39) |
S445F |
probably benign |
Het |
Comt |
T |
C |
16: 18,230,469 (GRCm39) |
E80G |
probably damaging |
Het |
Coq7 |
T |
C |
7: 118,126,709 (GRCm39) |
|
probably benign |
Het |
Coro7 |
C |
A |
16: 4,494,799 (GRCm39) |
|
probably null |
Het |
Cyp2c40 |
A |
G |
19: 39,792,228 (GRCm39) |
S239P |
probably damaging |
Het |
Dnah5 |
T |
C |
15: 28,302,581 (GRCm39) |
S1613P |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,118,885 (GRCm39) |
I2193M |
probably benign |
Het |
Eipr1 |
A |
G |
12: 28,917,078 (GRCm39) |
Y382C |
probably damaging |
Het |
Fastkd2 |
T |
A |
1: 63,778,469 (GRCm39) |
H447Q |
probably benign |
Het |
Galk2 |
A |
T |
2: 125,817,317 (GRCm39) |
R369* |
probably null |
Het |
Gli2 |
G |
A |
1: 118,764,485 (GRCm39) |
A1222V |
probably benign |
Het |
Golim4 |
T |
A |
3: 75,813,802 (GRCm39) |
K141* |
probably null |
Het |
Gtpbp3 |
G |
T |
8: 71,943,692 (GRCm39) |
|
probably benign |
Het |
Gzmd |
C |
T |
14: 56,367,224 (GRCm39) |
A223T |
probably benign |
Het |
Igf2r |
T |
C |
17: 12,958,221 (GRCm39) |
R151G |
probably damaging |
Het |
Itga8 |
T |
A |
2: 12,270,139 (GRCm39) |
R116W |
probably damaging |
Het |
Klhdc1 |
T |
G |
12: 69,304,919 (GRCm39) |
|
probably null |
Het |
Klhl25 |
T |
C |
7: 75,516,602 (GRCm39) |
Y198H |
probably benign |
Het |
Klhl29 |
A |
T |
12: 5,190,587 (GRCm39) |
M136K |
probably benign |
Het |
Lipf |
A |
T |
19: 33,944,292 (GRCm39) |
Y167F |
possibly damaging |
Het |
Lpar1 |
T |
C |
4: 58,487,155 (GRCm39) |
K39E |
possibly damaging |
Het |
Mbtd1 |
T |
A |
11: 93,820,705 (GRCm39) |
|
probably null |
Het |
Myo1a |
T |
A |
10: 127,554,413 (GRCm39) |
N794K |
probably benign |
Het |
Nmrk1 |
T |
C |
19: 18,622,452 (GRCm39) |
L177P |
possibly damaging |
Het |
Noxa1 |
C |
T |
2: 24,975,988 (GRCm39) |
E401K |
probably damaging |
Het |
Or10g9b |
T |
A |
9: 39,918,039 (GRCm39) |
M69L |
probably benign |
Het |
Or4f53 |
A |
T |
2: 111,087,856 (GRCm39) |
Y132F |
probably damaging |
Het |
Ostm1 |
T |
A |
10: 42,555,325 (GRCm39) |
C116S |
probably damaging |
Het |
Pcdhga7 |
T |
C |
18: 37,848,800 (GRCm39) |
I269T |
probably benign |
Het |
Pfkfb3 |
T |
C |
2: 11,489,470 (GRCm39) |
K276R |
probably benign |
Het |
Pfkp |
A |
T |
13: 6,648,765 (GRCm39) |
|
probably benign |
Het |
Pitpnm1 |
A |
G |
19: 4,153,270 (GRCm39) |
D142G |
probably damaging |
Het |
Pkp3 |
T |
C |
7: 140,668,419 (GRCm39) |
L556P |
probably damaging |
Het |
Plb1 |
C |
A |
5: 32,490,841 (GRCm39) |
T1046N |
probably damaging |
Het |
Polk |
A |
T |
13: 96,620,064 (GRCm39) |
I733N |
probably damaging |
Het |
Potegl |
T |
C |
2: 23,147,017 (GRCm39) |
|
probably null |
Het |
Prkg2 |
C |
A |
5: 99,136,156 (GRCm39) |
C301F |
probably damaging |
Het |
Rabgap1l |
T |
C |
1: 160,066,142 (GRCm39) |
T189A |
probably benign |
Het |
Raph1 |
T |
C |
1: 60,529,414 (GRCm39) |
|
probably benign |
Het |
Rbm22 |
T |
A |
18: 60,693,899 (GRCm39) |
M1K |
probably null |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rnf186 |
T |
A |
4: 138,694,715 (GRCm39) |
I85N |
probably benign |
Het |
Ryr2 |
C |
A |
13: 11,723,088 (GRCm39) |
R2517L |
probably damaging |
Het |
Sec63 |
T |
A |
10: 42,665,378 (GRCm39) |
Y103N |
probably damaging |
Het |
Serpinb3a |
G |
A |
1: 106,974,838 (GRCm39) |
P232S |
probably damaging |
Het |
Slco6d1 |
C |
A |
1: 98,423,947 (GRCm39) |
T533K |
probably damaging |
Het |
Smarcad1 |
T |
A |
6: 65,088,865 (GRCm39) |
D1000E |
probably benign |
Het |
Spata46 |
A |
T |
1: 170,136,490 (GRCm39) |
I14F |
probably damaging |
Het |
Speer4b |
T |
C |
5: 27,703,815 (GRCm39) |
H106R |
possibly damaging |
Het |
Spint4 |
T |
C |
2: 164,542,761 (GRCm39) |
L118P |
probably benign |
Het |
Sptbn5 |
A |
G |
2: 119,880,613 (GRCm39) |
|
noncoding transcript |
Het |
Tgfbr3 |
A |
T |
5: 107,288,380 (GRCm39) |
I427N |
probably benign |
Het |
Thbs2 |
C |
A |
17: 14,901,506 (GRCm39) |
C491F |
probably damaging |
Het |
Tmem232 |
T |
A |
17: 65,793,506 (GRCm39) |
E64D |
probably benign |
Het |
Tnpo3 |
A |
T |
6: 29,565,197 (GRCm39) |
C585* |
probably null |
Het |
Ttc13 |
A |
T |
8: 125,406,683 (GRCm39) |
|
probably benign |
Het |
Tuba8 |
C |
T |
6: 121,202,854 (GRCm39) |
A389V |
probably damaging |
Het |
Uqcc4 |
G |
A |
17: 25,403,963 (GRCm39) |
S101N |
probably damaging |
Het |
Usp25 |
A |
G |
16: 76,830,833 (GRCm39) |
I30V |
probably benign |
Het |
Vmn2r31 |
T |
A |
7: 7,387,529 (GRCm39) |
K681* |
probably null |
Het |
Vmn2r88 |
A |
G |
14: 51,651,367 (GRCm39) |
E235G |
probably damaging |
Het |
Vps29 |
T |
A |
5: 122,492,511 (GRCm39) |
|
probably benign |
Het |
Wdr1 |
A |
C |
5: 38,686,879 (GRCm39) |
V568G |
possibly damaging |
Het |
Zfp64 |
T |
G |
2: 168,741,734 (GRCm39) |
Q398P |
probably damaging |
Het |
Zfp64 |
G |
T |
2: 168,741,735 (GRCm39) |
Q398K |
probably damaging |
Het |
Zfp839 |
T |
C |
12: 110,830,470 (GRCm39) |
Y398H |
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 |
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 |
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'- GCTGGATCTGAAATCAGCAGAG -3'
(R):5'- ATGAGACACTGCCTCTTCAC -3'
Sequencing Primer
(F):5'- TCTGAAATCAGCAGAGCCGGG -3'
(R):5'- ACCTGTATGTTAAGTCCTTTGGCAAG -3'
|
Posted On |
2016-11-08 |