Incidental Mutation 'R5418:Plxnb2'
ID 427881
Institutional Source Beutler Lab
Gene Symbol Plxnb2
Ensembl Gene ENSMUSG00000036606
Gene Name plexin B2
Synonyms Debt, 1110007H23Rik
MMRRC Submission 042986-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R5418 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 89155549-89180788 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89166491 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 421 (Y421H)
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: Y421H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606
AA Change: Y421H

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: Y421H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606
AA Change: Y421H

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: ENSMUST00000197760
Meta Mutation Damage Score 0.1357 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 99% (81/82)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810474O19Rik T C 6: 149,326,136 (GRCm38) Y227H probably damaging Het
4930568D16Rik A G 2: 35,354,726 (GRCm38) S205P probably damaging Het
9530077C05Rik G T 9: 22,431,770 (GRCm38) R187L probably damaging Het
Abcc1 T C 16: 14,461,132 (GRCm38) V1102A probably benign Het
Acad8 A T 9: 26,985,557 (GRCm38) M202K probably damaging Het
Acoxl T A 2: 127,877,802 (GRCm38) M161K probably benign Het
Adamts4 T A 1: 171,252,574 (GRCm38) V35E probably damaging Het
Add2 A G 6: 86,110,912 (GRCm38) S614G probably benign Het
Adgrv1 T A 13: 81,419,308 (GRCm38) I5249L probably benign Het
Agps A G 2: 75,858,904 (GRCm38) T252A probably damaging Het
Alms1-ps1 G A 6: 85,755,602 (GRCm38) noncoding transcript Het
Ankrd24 T A 10: 81,644,942 (GRCm38) probably benign Het
Bcl9l A G 9: 44,505,436 (GRCm38) Q218R possibly damaging Het
Bin2 T C 15: 100,649,146 (GRCm38) Y232C probably damaging Het
Bptf A G 11: 107,111,294 (GRCm38) Y331H probably damaging Het
Ccr10 C T 11: 101,174,078 (GRCm38) V209M probably benign Het
Cflar A T 1: 58,752,651 (GRCm38) D371V possibly damaging Het
Col1a2 A G 6: 4,516,931 (GRCm38) probably benign Het
Crlf2 A G 5: 109,557,033 (GRCm38) V104A probably benign Het
Dennd1c CCGCCCCTCGCTGACAGC CC 17: 57,066,755 (GRCm38) probably null Het
Dmxl2 A G 9: 54,374,651 (GRCm38) probably null Het
Dnah17 C A 11: 118,094,984 (GRCm38) E1422D probably benign Het
Dnase1l1 C T X: 74,277,038 (GRCm38) probably null Het
Efcab11 A G 12: 99,855,618 (GRCm38) L80S possibly damaging Het
Emc8 G A 8: 120,658,603 (GRCm38) T130M probably damaging Het
Epha6 C A 16: 60,424,835 (GRCm38) A334S possibly damaging Het
Erc2 A G 14: 27,966,510 (GRCm38) M196V probably benign Het
Etnk2 T C 1: 133,373,257 (GRCm38) I254T probably damaging Het
Fam120b C T 17: 15,401,799 (GRCm38) T13M probably damaging Het
Fam234b A G 6: 135,226,968 (GRCm38) K423E probably benign Het
Fcgbp G A 7: 28,085,313 (GRCm38) G266D probably damaging Het
Fndc4 A T 5: 31,294,634 (GRCm38) S146R probably benign Het
Frmd3 G A 4: 74,161,698 (GRCm38) probably null Het
Glrx2 C A 1: 143,739,708 (GRCm38) S16R possibly damaging Het
Gm26526 T G 7: 39,588,934 (GRCm38) noncoding transcript Het
Hc C T 2: 35,008,183 (GRCm38) probably null Het
Herc2 T C 7: 56,137,565 (GRCm38) C1695R probably damaging Het
Hic1 A G 11: 75,166,599 (GRCm38) probably null Het
Igkv4-92 A T 6: 68,755,580 (GRCm38) V5E possibly damaging Het
Irs1 G A 1: 82,288,770 (GRCm38) T575I probably damaging Het
Kcp A T 6: 29,504,284 (GRCm38) Y143* probably null Het
Klb A G 5: 65,383,470 (GRCm38) N969D probably benign Het
Klra6 T A 6: 130,013,430 (GRCm38) L239F probably damaging Het
Lhx6 A G 2: 36,087,366 (GRCm38) probably null Het
Lrrc34 G A 3: 30,642,774 (GRCm38) P116S possibly damaging Het
Map3k9 T A 12: 81,743,817 (GRCm38) K321* probably null Het
Mapk14 T C 17: 28,741,843 (GRCm38) V196A possibly damaging Het
Mmp1b T C 9: 7,384,897 (GRCm38) I251V possibly damaging Het
Mtmr12 T C 15: 12,269,959 (GRCm38) L711P probably damaging Het
Mylk T C 16: 34,912,230 (GRCm38) S627P probably benign Het
Nbea A T 3: 55,645,989 (GRCm38) Y2631N possibly damaging Het
Ncoa7 A G 10: 30,648,039 (GRCm38) V153A probably damaging Het
Olfr1252 T C 2: 89,721,999 (GRCm38) I37M probably benign Het
Pax6 A T 2: 105,691,565 (GRCm38) D175V probably benign Het
Piezo1 A G 8: 122,486,780 (GRCm38) L1793P probably damaging Het
Pkp4 T C 2: 59,310,162 (GRCm38) V404A probably benign Het
Prkdc T G 16: 15,795,097 (GRCm38) V3173G probably benign Het
Prss40 A T 1: 34,560,759 (GRCm38) I49N probably benign Het
Prx T A 7: 27,517,274 (GRCm38) V400E probably damaging Het
Rbm11 A C 16: 75,596,535 (GRCm38) T40P probably damaging Het
Scara5 CG C 14: 65,759,662 (GRCm38) probably null Het
Sema3f A G 9: 107,692,621 (GRCm38) Y70H probably damaging Het
Senp6 G A 9: 80,121,869 (GRCm38) E505K possibly damaging Het
Slc25a3 T C 10: 91,119,536 (GRCm38) I147M probably benign Het
Slc4a7 T A 14: 14,760,280 (GRCm38) S572T probably benign Het
Smarcal1 C T 1: 72,598,909 (GRCm38) P501S probably benign Het
Sox7 C T 14: 63,947,947 (GRCm38) T144M probably benign Het
Taar1 T C 10: 23,921,316 (GRCm38) F304S possibly damaging Het
Tcf3 A G 10: 80,427,683 (GRCm38) F46L probably damaging Het
Tmem184c A G 8: 77,597,820 (GRCm38) V347A probably damaging Het
Tpcn2 C T 7: 145,278,781 (GRCm38) E113K probably damaging Het
Vmn1r232 T A 17: 20,914,116 (GRCm38) Y74F possibly damaging Het
Vmn2r102 C T 17: 19,694,153 (GRCm38) T660I probably damaging Het
Zdhhc3 A G 9: 123,080,391 (GRCm38) M234T probably damaging Het
Zfp960 T A 17: 17,087,543 (GRCm38) L173H probably damaging 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
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
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'- AATGGTGCTATGAAGACTCAGAGAC -3'
(R):5'- AATCTGACAGCAGTGACAGTAAC -3'

Sequencing Primer
(F):5'- GAGACAGGAGCCCAGACTC -3'
(R):5'- TGACAGTAACTGCCGAGAATGACC -3'
Posted On 2016-09-01