Incidental Mutation 'R6269:Plxnb2'
ID 507249
Institutional Source Beutler Lab
Gene Symbol Plxnb2
Ensembl Gene ENSMUSG00000036606
Gene Name plexin B2
Synonyms Debt, 1110007H23Rik
MMRRC Submission 044440-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R6269 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 89155549-89180788 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89160713 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1143 (M1143T)
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: M1143T

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606
AA Change: M1143T

DomainStartEndE-ValueType
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: M1143T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606
AA Change: M1143T

DomainStartEndE-ValueType
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: ENSMUST00000143014
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197760
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229966
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230393
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T A 6: 86,964,051 (GRCm38) I609N unknown Het
Ano10 A T 9: 122,261,242 (GRCm38) I277N probably damaging Het
Ap2b1 A G 11: 83,346,673 (GRCm38) D483G probably damaging Het
As3mt T A 19: 46,719,952 (GRCm38) F226Y probably damaging Het
Atp10a G A 7: 58,803,739 (GRCm38) R855H possibly damaging Het
Bin3 T A 14: 70,137,162 (GRCm38) H213Q probably benign Het
Bora T C 14: 99,073,667 (GRCm38) C512R probably damaging Het
Camk2b T A 11: 5,978,497 (GRCm38) D414V probably damaging Het
Ccdc27 A T 4: 154,037,722 (GRCm38) L233Q unknown Het
Ccdc73 T C 2: 104,907,633 (GRCm38) S25P probably damaging Het
Cenpf G A 1: 189,659,920 (GRCm38) H572Y probably benign Het
Chil4 A G 3: 106,204,171 (GRCm38) V209A probably damaging Het
Clstn1 T C 4: 149,644,067 (GRCm38) V650A probably benign Het
Cox6a2 T A 7: 128,206,265 (GRCm38) S11C probably benign Het
Csf1 T C 3: 107,749,001 (GRCm38) E238G probably benign Het
Cyp2c23 T A 19: 44,029,187 (GRCm38) M1L unknown Het
Cyp4a10 T A 4: 115,524,312 (GRCm38) M191K probably damaging Het
Cyp4a14 A G 4: 115,491,131 (GRCm38) V383A possibly damaging Het
D130052B06Rik T G 11: 33,623,916 (GRCm38) V171G possibly damaging Het
Dlgap2 A G 8: 14,822,369 (GRCm38) T617A probably benign Het
Dyrk4 T A 6: 126,886,727 (GRCm38) I351F probably damaging Het
Epg5 T C 18: 77,948,370 (GRCm38) V94A probably benign Het
Fam111a A G 19: 12,588,443 (GRCm38) T519A probably benign Het
Fam208b C T 13: 3,581,891 (GRCm38) R870H possibly damaging Het
Gdpd4 A G 7: 97,974,462 (GRCm38) S314G probably damaging Het
Gm9758 T A 5: 14,912,260 (GRCm38) K111N possibly damaging Het
Gpr137b A T 13: 13,363,511 (GRCm38) V285E probably damaging Het
Hyls1 G A 9: 35,561,184 (GRCm38) S312F probably benign Het
Itgal T A 7: 127,330,217 (GRCm38) L1102Q probably null Het
Kctd19 T A 8: 105,395,360 (GRCm38) Y185F possibly damaging Het
Kif5b A G 18: 6,223,558 (GRCm38) L317P possibly damaging Het
Klhl42 C A 6: 147,092,307 (GRCm38) A259E probably damaging Het
Lrrc2 A G 9: 110,980,949 (GRCm38) D351G probably damaging Het
Med12l A G 3: 59,227,822 (GRCm38) E797G probably damaging Het
Mink1 A G 11: 70,598,987 (GRCm38) E63G probably damaging Het
Nek9 T C 12: 85,332,329 (GRCm38) probably null Het
Olfr1120 A T 2: 87,846,874 (GRCm38) H201L possibly damaging Het
Otx1 C A 11: 21,997,037 (GRCm38) A91S probably damaging Het
Parp6 G A 9: 59,650,012 (GRCm38) V627I probably benign Het
Pclo C T 5: 14,522,094 (GRCm38) Q498* probably null Het
Pdlim5 T C 3: 142,312,325 (GRCm38) T170A possibly damaging Het
Pgap1 A T 1: 54,548,008 (GRCm38) Y136* probably null Het
Pgghg T A 7: 140,946,184 (GRCm38) N563K probably damaging Het
Pnpla1 G A 17: 28,881,368 (GRCm38) G403E probably benign Het
Prc1 G A 7: 80,309,427 (GRCm38) R381Q probably damaging Het
Psph A T 5: 129,766,465 (GRCm38) I175N probably damaging Het
Rbbp8nl T A 2: 180,281,512 (GRCm38) K131* probably null Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,579,906 (GRCm38) probably benign Homo
Sde2 G A 1: 180,855,806 (GRCm38) V42I probably benign Het
Slc25a3 G A 10: 91,117,101 (GRCm38) R314* probably null Het
Spag9 A G 11: 94,044,507 (GRCm38) N48S probably benign Het
Srp54b T C 12: 55,255,972 (GRCm38) M351T possibly damaging Het
Tcaf2 A G 6: 42,627,408 (GRCm38) L679P probably damaging Het
Tnrc6b T A 15: 80,880,743 (GRCm38) N815K probably benign Het
Usp17la A T 7: 104,860,350 (GRCm38) Q54L possibly damaging Het
Vmn2r92 T A 17: 18,166,774 (GRCm38) I125K probably benign Het
Xrra1 T C 7: 99,917,472 (GRCm38) Y732H probably damaging Het
Zfp131 A G 13: 119,766,405 (GRCm38) S603P possibly damaging Het
Zfp28 G T 7: 6,393,613 (GRCm38) S349I probably benign Het
Other mutations in Plxnb2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TCACCTGTGTGGAAGCTAGG -3'
(R):5'- GGTCAACAAGCTCATCCACG -3'

Sequencing Primer
(F):5'- TCAGCGCAGGCAGGTGTG -3'
(R):5'- ATCCACGCCCGGGTAAGAAG -3'
Posted On 2018-03-15