Incidental Mutation 'R1530:Plxnb2'
ID 166588
Institutional Source Beutler Lab
Gene Symbol Plxnb2
Ensembl Gene ENSMUSG00000036606
Gene Name plexin B2
Synonyms 1110007H23Rik, Debt
MMRRC Submission 039569-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.938) question?
Stock # R1530 (G1)
Quality Score 210
Status Not validated
Chromosome 15
Chromosomal Location 89039752-89064960 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89051395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 275 (S275P)
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: S275P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606
AA Change: S275P

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: S275P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606
AA Change: S275P

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: ENSMUST00000197760
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.6%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b T C 5: 137,567,640 (GRCm39) C425R probably damaging Het
Adam15 A G 3: 89,257,137 (GRCm39) S20P probably damaging Het
Adgra3 G A 5: 50,118,479 (GRCm39) T1023I probably benign Het
Angel2 T A 1: 190,671,285 (GRCm39) V46E probably damaging Het
Ankrd13c T A 3: 157,697,358 (GRCm39) M321K probably damaging Het
Atad2b C T 12: 4,992,018 (GRCm39) R206* probably null Het
Atp10b T A 11: 43,088,351 (GRCm39) F319Y probably benign Het
AW554918 A G 18: 25,533,161 (GRCm39) R272G probably damaging Het
Bpi T A 2: 158,103,065 (GRCm39) I70N probably damaging Het
Brca1 T C 11: 101,415,521 (GRCm39) D871G probably damaging Het
Capn3 G A 2: 120,312,689 (GRCm39) A160T probably damaging Het
Cenpe T C 3: 134,952,663 (GRCm39) L1451P possibly damaging Het
Chmp7 A G 14: 69,969,937 (GRCm39) M1T probably null Het
Csrnp1 G C 9: 119,802,612 (GRCm39) Q200E possibly damaging Het
Dscam G A 16: 96,621,074 (GRCm39) P545S probably damaging Het
Erap1 A G 13: 74,794,662 (GRCm39) E107G probably benign Het
Errfi1 A G 4: 150,949,843 (GRCm39) I49V probably benign Het
Fam171b T C 2: 83,710,533 (GRCm39) L735S probably damaging Het
Fancm T A 12: 65,139,264 (GRCm39) probably null Het
Fbp2 G C 13: 62,984,973 (GRCm39) P316R probably damaging Het
Fcer2a C A 8: 3,732,976 (GRCm39) G255V probably damaging Het
Fhip2a T A 19: 57,374,737 (GRCm39) I704N probably damaging Het
Fzd2 T C 11: 102,496,134 (GRCm39) S193P probably benign Het
Gak A G 5: 108,772,059 (GRCm39) V86A probably damaging Het
Gas2l3 A G 10: 89,269,631 (GRCm39) I7T probably benign Het
Gbp11 T C 5: 105,475,355 (GRCm39) H331R probably damaging Het
Gpr19 C T 6: 134,846,961 (GRCm39) V241M probably damaging Het
Grk6 G A 13: 55,606,612 (GRCm39) A437T probably damaging Het
Hip1 T C 5: 135,473,634 (GRCm39) D253G probably damaging Het
Ifna9 G C 4: 88,510,409 (GRCm39) Q72E possibly damaging Het
Il1r1 A G 1: 40,351,521 (GRCm39) T384A probably benign Het
Ip6k1 C A 9: 107,922,761 (GRCm39) C221* probably null Het
Kcna1 C A 6: 126,619,494 (GRCm39) E275D probably benign Het
Kcnt2 C T 1: 140,411,970 (GRCm39) Q468* probably null Het
Kin T C 2: 10,097,150 (GRCm39) V333A probably damaging Het
Leprot G T 4: 101,513,484 (GRCm39) V91L probably benign Het
Mettl21c A G 1: 44,056,344 (GRCm39) probably null Het
Myom2 T C 8: 15,172,384 (GRCm39) F1161S probably damaging Het
Ndor1 A G 2: 25,138,921 (GRCm39) L321P probably benign Het
Nipal2 A T 15: 34,625,168 (GRCm39) *72K probably null Het
Nol3 T C 8: 106,005,858 (GRCm39) V84A probably benign Het
Or2y16 C T 11: 49,334,732 (GRCm39) S18L probably benign Het
Or4c101 A T 2: 88,389,827 (GRCm39) I5F probably benign Het
Or8b42 T C 9: 38,341,620 (GRCm39) I14T probably damaging Het
Pcare A G 17: 72,056,473 (GRCm39) V1068A probably benign Het
Pdgfra T A 5: 75,349,671 (GRCm39) probably null Het
Pik3cb T C 9: 98,936,026 (GRCm39) D802G probably damaging Het
Plac8l1 A T 18: 42,311,996 (GRCm39) V141E probably damaging Het
Prl3b1 G A 13: 27,427,848 (GRCm39) A53T probably benign Het
Rapgef6 T A 11: 54,552,009 (GRCm39) I959K probably damaging Het
Scn5a T C 9: 119,324,628 (GRCm39) K1400R probably damaging Het
Sel1l A G 12: 91,793,458 (GRCm39) S263P probably damaging Het
Setd5 G A 6: 113,086,874 (GRCm39) V34I probably damaging Het
Slc34a1 A G 13: 24,003,052 (GRCm39) D234G probably damaging Het
Spink5 T A 18: 44,148,738 (GRCm39) S934T probably damaging Het
St18 A C 1: 6,915,793 (GRCm39) probably null Het
St3gal4 T C 9: 34,963,592 (GRCm39) I239V probably benign Het
Stag3 C T 5: 138,295,674 (GRCm39) T399I probably damaging Het
Syt11 T C 3: 88,669,674 (GRCm39) K6E probably damaging Het
Taf15 T C 11: 83,378,122 (GRCm39) Y121H possibly damaging Het
Tdh T C 14: 63,733,504 (GRCm39) Y113C probably damaging Het
Tgfbr1 T A 4: 47,410,688 (GRCm39) W406R probably damaging Het
Tgm6 A G 2: 129,993,202 (GRCm39) I563V possibly damaging Het
Tmem131 A G 1: 36,866,090 (GRCm39) probably null Het
Tmub2 T C 11: 102,178,312 (GRCm39) S72P probably benign Het
Trappc13 G A 13: 104,286,651 (GRCm39) T202I probably damaging Het
Trim9 T C 12: 70,319,202 (GRCm39) E449G probably damaging Het
Trip11 C A 12: 101,879,026 (GRCm39) G21V unknown Het
Ttll12 G A 15: 83,472,856 (GRCm39) R127C probably damaging Het
Vmn2r125 A T 4: 156,703,447 (GRCm39) Y275F probably damaging Het
Xrcc5 A G 1: 72,369,103 (GRCm39) D319G probably damaging Het
Zc3h14 T G 12: 98,751,262 (GRCm39) C159W probably damaging Het
Zc3h7b C T 15: 81,661,289 (GRCm39) P376L probably benign Het
Zfhx3 C T 8: 109,675,121 (GRCm39) P2057L probably damaging Het
Other mutations in Plxnb2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGTGGATCACAGCATCAGGACCAG -3'
(R):5'- TACTCAGCAGTTTGTCGCAGCC -3'

Sequencing Primer
(F):5'- CTACTAGGGCTCCAAGCTATAGG -3'
(R):5'- CGCAGCCTTTGAGGATGATTTC -3'
Posted On 2014-04-13