Incidental Mutation 'R2049:Plxnb2'
ID 226272
Institutional Source Beutler Lab
Gene Symbol Plxnb2
Ensembl Gene ENSMUSG00000036606
Gene Name plexin B2
Synonyms 1110007H23Rik, Debt
MMRRC Submission 040056-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.938) question?
Stock # R2049 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 89039752-89064960 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89043205 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 1453 (N1453I)
Ref Sequence ENSEMBL: ENSMUSP00000104955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060808] [ENSMUST00000109331]
AlphaFold B2RXS4
Predicted Effect probably damaging
Transcript: ENSMUST00000060808
AA Change: N1453I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606
AA Change: N1453I

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 damaging
Transcript: ENSMUST00000109331
AA Change: N1453I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606
AA Change: N1453I

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: 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
Meta Mutation Damage Score 0.9455 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (118/122)
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: 118 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik G A 14: 54,822,444 (GRCm39) R8* probably null Het
Abhd17a A G 10: 80,421,440 (GRCm39) probably null Het
Acsm1 A G 7: 119,255,262 (GRCm39) R415G probably damaging Het
Acta1 G T 8: 124,618,803 (GRCm39) T360N probably benign Het
Adam6a T A 12: 113,508,049 (GRCm39) S141T probably benign Het
Adgrd1 G T 5: 129,192,159 (GRCm39) K76N probably benign Het
Afdn A G 17: 14,030,695 (GRCm39) E202G probably damaging Het
Agps T A 2: 75,689,270 (GRCm39) M156K probably benign Het
Agxt A G 1: 93,065,037 (GRCm39) I149V probably benign Het
Aoc1l1 T A 6: 48,954,689 (GRCm39) L609* probably null Het
Aqp2 A G 15: 99,477,247 (GRCm39) T72A probably damaging Het
Arhgap18 T A 10: 26,725,938 (GRCm39) D54E probably benign Het
Asb8 C A 15: 98,033,950 (GRCm39) E202* probably null Het
Bmp5 A G 9: 75,801,072 (GRCm39) I401V probably damaging Het
Bscl2 T C 19: 8,822,684 (GRCm39) probably null Het
Capn9 G A 8: 125,332,450 (GRCm39) G430R possibly damaging Het
Cd55 C T 1: 130,377,160 (GRCm39) V333I probably benign Het
Cep112 A G 11: 108,497,151 (GRCm39) E697G probably damaging Het
Cerk G A 15: 86,027,009 (GRCm39) S167L probably benign Het
Chrm3 T A 13: 9,928,371 (GRCm39) I222F probably damaging Het
Clcn6 A G 4: 148,108,594 (GRCm39) F145S possibly damaging Het
Cnksr1 A G 4: 133,956,939 (GRCm39) Y488H probably damaging Het
Cntrl CAGAG CAG 2: 35,012,818 (GRCm39) probably null Het
Commd10 A T 18: 47,096,814 (GRCm39) T74S probably benign Het
Cyp4f39 T C 17: 32,701,112 (GRCm39) F201L probably benign Het
Dennd4a A G 9: 64,796,887 (GRCm39) T860A possibly damaging Het
Dlg5 A T 14: 24,204,715 (GRCm39) I1253N probably damaging Het
Dnah7b T A 1: 46,307,830 (GRCm39) M3048K probably damaging Het
Dnah9 A G 11: 65,935,509 (GRCm39) M1970T probably damaging Het
Dsc3 A T 18: 20,122,737 (GRCm39) D62E possibly damaging Het
Dsel T C 1: 111,787,187 (GRCm39) N1116S probably benign Het
Dusp7 C T 9: 106,251,096 (GRCm39) T407M probably damaging Het
Efnb1 A G X: 98,191,123 (GRCm39) Y343C probably damaging Het
Eif1ad8 A G 12: 87,564,046 (GRCm39) D127G unknown Het
Entpd5 A G 12: 84,443,632 (GRCm39) I12T probably benign Het
Espn T C 4: 152,205,714 (GRCm39) E408G probably damaging Het
Fhip1b A T 7: 105,039,046 (GRCm39) D64E probably damaging Het
Gdpd3 A G 7: 126,367,766 (GRCm39) T200A probably damaging Het
Gli1 A G 10: 127,172,596 (GRCm39) L182P probably damaging Het
Gm5134 G A 10: 75,840,718 (GRCm39) A521T possibly damaging Het
Gprasp1 G A X: 134,702,791 (GRCm39) E995K possibly damaging Het
H2-M10.1 T C 17: 36,636,108 (GRCm39) D153G possibly damaging Het
Helb A T 10: 119,941,926 (GRCm39) M254K possibly damaging Het
I0C0044D17Rik A G 4: 98,708,533 (GRCm39) probably benign Het
Igfn1 AGGG AGG 1: 135,902,590 (GRCm39) probably benign Het
Igfn1 T A 1: 135,898,376 (GRCm39) Q730L probably benign Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 1: 135,314,006 (GRCm39) probably benign Het
Ipo9 A G 1: 135,329,988 (GRCm39) V484A probably benign Het
Jmjd1c T A 10: 66,993,777 (GRCm39) L86* probably null Het
Kat5 T A 19: 5,655,713 (GRCm39) probably null Het
Kif14 A G 1: 136,414,818 (GRCm39) N768S probably benign Het
Kif14 A G 1: 136,437,905 (GRCm39) E1199G possibly damaging Het
Klhl29 A G 12: 5,187,876 (GRCm39) S163P probably damaging Het
Kmt2c C A 5: 25,490,077 (GRCm39) Q4287H probably damaging Het
Krt82 T A 15: 101,453,591 (GRCm39) Q265L probably damaging Het
Macf1 C T 4: 123,248,895 (GRCm39) C7210Y probably damaging Het
Mx2 G A 16: 97,339,903 (GRCm39) E20K probably benign Het
Myom2 T G 8: 15,156,379 (GRCm39) I742S probably damaging Het
Narf A T 11: 121,141,195 (GRCm39) R310* probably null Het
Nktr T A 9: 121,570,760 (GRCm39) D167E probably damaging Het
Nle1 A G 11: 82,796,192 (GRCm39) W183R probably damaging Het
Npas3 A G 12: 54,108,871 (GRCm39) N425S probably damaging Het
Obsl1 G A 1: 75,486,756 (GRCm38) T1764M probably benign Het
Optc A T 1: 133,831,534 (GRCm39) probably null Het
Or4a27 A T 2: 88,559,089 (GRCm39) Y285N probably damaging Het
Or4a68 C T 2: 89,269,927 (GRCm39) R232H probably benign Het
Or4d5 T A 9: 40,012,415 (GRCm39) I124L probably benign Het
Or6c69 A G 10: 129,748,036 (GRCm39) V37A probably benign Het
Or8g52 A T 9: 39,631,411 (GRCm39) D296V probably damaging Het
Or8s2 G A 15: 98,276,277 (GRCm39) T238I possibly damaging Het
Otol1 T A 3: 69,926,169 (GRCm39) F115I probably benign Het
Parp8 T A 13: 117,031,422 (GRCm39) D430V probably benign Het
Pex7 T A 10: 19,770,061 (GRCm39) H123L probably damaging Het
Pkhd1l1 T A 15: 44,410,909 (GRCm39) probably benign Het
Pkhd1l1 G A 15: 44,445,137 (GRCm39) D3670N probably damaging Het
Plec T C 15: 76,067,374 (GRCm39) T1331A probably benign Het
Plekha4 A G 7: 45,203,222 (GRCm39) D704G probably benign Het
Pms1 T A 1: 53,321,147 (GRCm39) I29F probably damaging Het
Ppp1r1a G A 15: 103,439,833 (GRCm39) T153I probably damaging Het
Pramel12 T A 4: 143,143,441 (GRCm39) L69Q probably damaging Het
Prelp C T 1: 133,842,869 (GRCm39) R92K probably benign Het
Ptpre A G 7: 135,272,424 (GRCm39) probably benign Het
Ptprt A T 2: 161,376,465 (GRCm39) I1312N probably damaging Het
Ren1 C G 1: 133,278,516 (GRCm39) probably null Het
Rims1 C T 1: 22,635,516 (GRCm39) C155Y probably damaging Het
Ro60 T C 1: 143,635,772 (GRCm39) D458G probably benign Het
Slitrk6 T G 14: 110,988,226 (GRCm39) T494P probably benign Het
Sltm G A 9: 70,488,583 (GRCm39) G578S probably benign Het
Smyd5 A G 6: 85,421,300 (GRCm39) E338G probably benign Het
Snx2 G A 18: 53,327,516 (GRCm39) V81M probably damaging Het
Sp2 G T 11: 96,852,191 (GRCm39) N244K probably benign Het
Sspo C A 6: 48,437,697 (GRCm39) probably benign Het
Sspo A C 6: 48,440,465 (GRCm39) D1568A probably benign Het
Ssrp1 T C 2: 84,871,771 (GRCm39) probably benign Het
Syt2 ACTCTCTCT ACTCTCTCTCT 1: 134,674,479 (GRCm39) probably benign Het
Syt7 G A 19: 10,416,577 (GRCm39) R138Q probably benign Het
Taar7f T C 10: 23,926,323 (GRCm39) Y306H possibly damaging Het
Tbccd1 T C 16: 22,637,291 (GRCm39) probably null Het
Tesl1 T A X: 23,773,549 (GRCm39) V350E probably benign Het
Tex261 A G 6: 83,749,241 (GRCm39) Y119H probably damaging Het
Tmem131l T G 3: 83,850,095 (GRCm39) E234D probably damaging Het
Tnnt2 TG TGG 1: 135,774,499 (GRCm39) probably benign Het
Top6bl A G 19: 4,748,633 (GRCm39) probably benign Het
Ttn C T 2: 76,643,683 (GRCm39) G11436R probably damaging Het
Ubap1 C T 4: 41,379,257 (GRCm39) A157V probably damaging Het
Ubr4 C T 4: 139,204,518 (GRCm39) T4810M probably damaging Het
Uso1 G A 5: 92,329,795 (GRCm39) G427R probably damaging Het
Usp15 A T 10: 122,955,042 (GRCm39) V912D probably damaging Het
Vmn1r20 T C 6: 57,408,943 (GRCm39) S90P probably damaging Het
Vmn1r32 T C 6: 66,530,545 (GRCm39) K77R probably damaging Het
Vmn2r100 A G 17: 19,742,312 (GRCm39) K229E probably benign Het
Vmn2r106 A G 17: 20,488,566 (GRCm39) V611A possibly damaging Het
Xrcc6 T A 15: 81,907,178 (GRCm39) F167I probably damaging Het
Zbtb21 G T 16: 97,751,355 (GRCm39) P804H probably damaging Het
Zdhhc3 T C 9: 122,929,602 (GRCm39) D11G probably damaging Het
Zfhx3 A G 8: 109,671,809 (GRCm39) T1324A probably benign Het
Zfp281 GCGGCAGCTCCGGCAGC GCGGCAGCTCCGGCAGCTCCGGCAGC 1: 136,553,091 (GRCm39) probably benign Het
Zfp608 G T 18: 55,028,637 (GRCm39) L1259I 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
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
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'- ACAATCACGCTCACGGTCTG -3'
(R):5'- CTTGCCTAAGTGCCTTGAAGGAG -3'

Sequencing Primer
(F):5'- AGGACCCTCGTGACCGTAC -3'
(R):5'- TGCCTTGAAGGAGGTCCAG -3'
Posted On 2014-09-17