Incidental Mutation 'R7781:Plxnb2'
| ID |
599260 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plxnb2
|
| Ensembl Gene |
ENSMUSG00000036606 |
| Gene Name |
plexin B2 |
| Synonyms |
Debt, 1110007H23Rik |
| MMRRC Submission |
045837-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R7781 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
89155549-89180788 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 89157022 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 1774
(M1774L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051731
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060808]
[ENSMUST00000109331]
|
| AlphaFold |
B2RXS4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060808
AA Change: M1774L
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606
AA Change: M1774L
| 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: M1774L
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606
AA Change: M1774L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700064H15Rik |
G |
A |
3: 19,628,542 (GRCm38) |
P23S |
unknown |
Het |
| Abcc6 |
C |
T |
7: 46,005,606 (GRCm38) |
R487Q |
probably damaging |
Het |
| Abl1 |
A |
T |
2: 31,790,697 (GRCm38) |
T334S |
probably damaging |
Het |
| Adam6b |
T |
C |
12: 113,491,342 (GRCm38) |
F593S |
probably damaging |
Het |
| Alx1 |
A |
T |
10: 103,009,192 (GRCm38) |
M326K |
probably damaging |
Het |
| Ankhd1 |
A |
T |
18: 36,625,205 (GRCm38) |
D984V |
probably damaging |
Het |
| Asb15 |
A |
G |
6: 24,562,645 (GRCm38) |
N202S |
probably benign |
Het |
| Ate1 |
A |
T |
7: 130,519,427 (GRCm38) |
V12E |
probably damaging |
Het |
| Atl2 |
A |
T |
17: 79,859,831 (GRCm38) |
Y254N |
probably damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,297,408 (GRCm38) |
M630T |
probably benign |
Het |
| Atp5po |
A |
T |
16: 91,926,529 (GRCm38) |
I124N |
possibly damaging |
Het |
| BC005537 |
C |
T |
13: 24,803,399 (GRCm38) |
R7W |
possibly damaging |
Het |
| Bicdl1 |
T |
C |
5: 115,661,487 (GRCm38) |
E181G |
probably damaging |
Het |
| Bnipl |
C |
A |
3: 95,244,175 (GRCm38) |
W272L |
probably damaging |
Het |
| Catsperd |
A |
T |
17: 56,664,072 (GRCm38) |
H712L |
probably benign |
Het |
| Cilp2 |
T |
C |
8: 69,882,347 (GRCm38) |
D667G |
possibly damaging |
Het |
| Cntn4 |
A |
C |
6: 106,523,614 (GRCm38) |
K351Q |
probably damaging |
Het |
| Coq7 |
A |
T |
7: 118,525,888 (GRCm38) |
I171N |
probably damaging |
Het |
| Csf2rb |
T |
A |
15: 78,344,571 (GRCm38) |
F371I |
probably benign |
Het |
| Cyp3a13 |
C |
T |
5: 137,898,874 (GRCm38) |
V393M |
possibly damaging |
Het |
| Dennd2a |
A |
G |
6: 39,493,066 (GRCm38) |
V564A |
probably damaging |
Het |
| Ear14 |
T |
C |
14: 51,204,011 (GRCm38) |
L108P |
probably damaging |
Het |
| Egflam |
C |
A |
15: 7,253,746 (GRCm38) |
V277F |
probably null |
Het |
| Epb42 |
T |
G |
2: 121,034,435 (GRCm38) |
K58N |
probably benign |
Het |
| Faap100 |
T |
C |
11: 120,374,263 (GRCm38) |
M596V |
probably benign |
Het |
| Fbxw15 |
T |
A |
9: 109,557,262 (GRCm38) |
T270S |
possibly damaging |
Het |
| Gabpb1 |
C |
T |
2: 126,639,200 (GRCm38) |
C342Y |
possibly damaging |
Het |
| Gls |
A |
T |
1: 52,212,333 (GRCm38) |
C288* |
probably null |
Het |
| Grm8 |
G |
T |
6: 27,285,787 (GRCm38) |
D875E |
probably benign |
Het |
| Hdac4 |
C |
A |
1: 91,975,665 (GRCm38) |
R514L |
probably benign |
Het |
| Hps4 |
T |
A |
5: 112,370,522 (GRCm38) |
N460K |
probably benign |
Het |
| Inpp5d |
T |
C |
1: 87,699,672 (GRCm38) |
F565S |
probably damaging |
Het |
| Kcnh5 |
C |
A |
12: 74,976,681 (GRCm38) |
V538F |
probably damaging |
Het |
| Kcp |
T |
C |
6: 29,497,765 (GRCm38) |
N499S |
probably damaging |
Het |
| Klk15 |
T |
C |
7: 43,939,556 (GRCm38) |
L244S |
probably benign |
Het |
| Lamp3 |
A |
T |
16: 19,699,690 (GRCm38) |
S266T |
possibly damaging |
Het |
| Lemd3 |
A |
G |
10: 120,925,773 (GRCm38) |
F863L |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,917,357 (GRCm38) |
V663D |
probably damaging |
Het |
| Naa15 |
A |
G |
3: 51,471,483 (GRCm38) |
|
probably null |
Het |
| Ndrg3 |
C |
A |
2: 156,928,813 (GRCm38) |
G352* |
probably null |
Het |
| Nr2f6 |
G |
T |
8: 71,375,951 (GRCm38) |
N233K |
possibly damaging |
Het |
| Or4a79 |
A |
G |
2: 89,721,535 (GRCm38) |
F192S |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,597,345 (GRCm38) |
E403* |
probably null |
Het |
| Rpl23a |
G |
A |
11: 78,182,828 (GRCm38) |
R62W |
probably benign |
Het |
| Rubcnl |
A |
G |
14: 75,032,090 (GRCm38) |
R63G |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 29,067,630 (GRCm38) |
D2976G |
probably damaging |
Het |
| Siglec1 |
A |
G |
2: 131,081,338 (GRCm38) |
Y496H |
probably damaging |
Het |
| Sipa1l2 |
A |
G |
8: 125,491,827 (GRCm38) |
V257A |
possibly damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,234,853 (GRCm38) |
|
probably null |
Het |
| Slc4a1ap |
T |
C |
5: 31,527,478 (GRCm38) |
S153P |
probably damaging |
Het |
| Slc4a4 |
A |
T |
5: 89,228,932 (GRCm38) |
E1006V |
possibly damaging |
Het |
| Svep1 |
T |
G |
4: 58,069,251 (GRCm38) |
E2845A |
possibly damaging |
Het |
| Tlr1 |
T |
C |
5: 64,926,736 (GRCm38) |
N166S |
possibly damaging |
Het |
| Tmem231 |
C |
T |
8: 111,918,290 (GRCm38) |
|
probably null |
Het |
| Tsc2 |
C |
A |
17: 24,608,115 (GRCm38) |
L873F |
possibly damaging |
Het |
| Unc13b |
T |
G |
4: 43,259,546 (GRCm38) |
S1403A |
possibly damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,024,568 (GRCm38) |
F236L |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,570,733 (GRCm38) |
S431G |
probably benign |
Het |
| Wdr7 |
A |
T |
18: 63,777,789 (GRCm38) |
K751* |
probably null |
Het |
| Wdr90 |
C |
T |
17: 25,846,326 (GRCm38) |
R1652Q |
probably damaging |
Het |
| Zcchc2 |
T |
C |
1: 106,004,165 (GRCm38) |
Y366H |
probably damaging |
Het |
| Zfp1005 |
A |
T |
2: 150,267,657 (GRCm38) |
H89L |
possibly damaging |
Het |
| Zfp607a |
C |
T |
7: 27,865,575 (GRCm38) |
R56C |
possibly 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 |
|
R5418:Plxnb2
|
UTSW |
15 |
89,166,491 (GRCm38) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- TTATGGTCAAGGCAGCTTGC -3'
(R):5'- AAAAGCTTTTGTCTTCCGCAG -3'
Sequencing Primer
(F):5'- GCAGCTTGCCTGTCCCAC -3'
(R):5'- TCTCTACCTACAAGAAGATGGTGG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation