Incidental Mutation 'R0103:Plxnb2'
ID 34504
Institutional Source Beutler Lab
Gene Symbol Plxnb2
Ensembl Gene ENSMUSG00000036606
Gene Name plexin B2
Synonyms Debt, 1110007H23Rik
MMRRC Submission 038389-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R0103 (G1)
Quality Score 186
Status Validated (trace)
Chromosome 15
Chromosomal Location 89155549-89180788 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89161769 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 968 (Y968H)
Ref Sequence ENSEMBL: ENSMUSP00000104955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060808] [ENSMUST00000109331]
AlphaFold B2RXS4
Predicted Effect possibly damaging
Transcript: ENSMUST00000060808
AA Change: Y968H

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606
AA Change: Y968H

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 possibly damaging
Transcript: ENSMUST00000109331
AA Change: Y968H

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606
AA Change: Y968H

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: ENSMUST00000151418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197760
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229966
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230393
Meta Mutation Damage Score 0.5800 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 99% (84/85)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,273,951 (GRCm38) R443S probably damaging Het
Anapc1 T C 2: 128,680,452 (GRCm38) probably benign Het
Aqr T A 2: 114,149,016 (GRCm38) I313F probably damaging Het
Arfgap3 A T 15: 83,322,721 (GRCm38) probably benign Het
Asah2 G T 19: 32,018,977 (GRCm38) H374N probably benign Het
Avl9 G T 6: 56,736,483 (GRCm38) R242L probably benign Het
Ccdc106 C A 7: 5,057,545 (GRCm38) Q35K probably benign Het
Ccm2l G T 2: 153,067,919 (GRCm38) E64* probably null Het
Cep85l A T 10: 53,278,174 (GRCm38) D776E possibly damaging Het
Cfap52 T A 11: 67,925,125 (GRCm38) I611F possibly damaging Het
Cldn22 C T 8: 47,824,554 (GRCm38) T9M probably benign Het
Coa7 T C 4: 108,338,141 (GRCm38) L89P possibly damaging Het
Cox7a2l A T 17: 83,514,272 (GRCm38) Y2N probably damaging Het
Ctns A C 11: 73,185,311 (GRCm38) I299M probably damaging Het
Cyp27a1 A C 1: 74,735,915 (GRCm38) E301A probably benign Het
Cyp2b13 A T 7: 26,088,710 (GRCm38) K421M probably damaging Het
Cyp4f40 C A 17: 32,676,309 (GRCm38) C468* probably null Het
Cyp4f40 G T 17: 32,676,308 (GRCm38) C468F probably damaging Het
Dcun1d5 G A 9: 7,188,788 (GRCm38) C74Y probably damaging Het
Dennd4c A G 4: 86,812,446 (GRCm38) Y860C probably benign Het
Dgkz T C 2: 91,934,205 (GRCm38) T1028A probably benign Het
Dhx58 T C 11: 100,695,270 (GRCm38) T642A probably damaging Het
Dlg4 A G 11: 70,031,193 (GRCm38) Y87C probably damaging Het
Dnah6 C T 6: 73,092,172 (GRCm38) E2511K probably damaging Het
Entpd5 C A 12: 84,396,943 (GRCm38) E9* probably null Het
Fbln2 A C 6: 91,271,550 (GRCm38) I1066L probably benign Het
Fhl2 C T 1: 43,153,221 (GRCm38) R4H probably benign Het
Frmpd1 T A 4: 45,229,884 (GRCm38) I17K probably damaging Het
Galnt2l A G 8: 122,269,733 (GRCm38) probably benign Het
Gbp7 T A 3: 142,546,538 (GRCm38) N627K probably benign Het
Gnptab A G 10: 88,429,519 (GRCm38) Y331C probably damaging Het
Hdac4 T C 1: 91,975,644 (GRCm38) E521G possibly damaging Het
Hibadh T A 6: 52,557,877 (GRCm38) M173L probably benign Het
Iba57 C T 11: 59,163,613 (GRCm38) A27T probably benign Het
Itga1 T C 13: 115,016,254 (GRCm38) I211V probably benign Het
Keg1 A T 19: 12,718,916 (GRCm38) I155F possibly damaging Het
Krt84 T C 15: 101,530,236 (GRCm38) E272G probably damaging Het
Lrp2 C A 2: 69,477,040 (GRCm38) V2892L probably benign Het
Ltb A G 17: 35,195,040 (GRCm38) probably benign Het
Masp1 G A 16: 23,458,018 (GRCm38) P579L probably damaging Het
Mtor T A 4: 148,533,902 (GRCm38) M1724K probably benign Het
Myo3a T G 2: 22,544,322 (GRCm38) probably benign Het
Myo9b C T 8: 71,323,849 (GRCm38) probably benign Het
Ncor1 G T 11: 62,343,045 (GRCm38) Q444K possibly damaging Het
Nek7 A T 1: 138,544,242 (GRCm38) C53* probably null Het
Obscn G T 11: 59,062,696 (GRCm38) Y4044* probably null Het
Or5b105 G A 19: 13,103,278 (GRCm38) R3C possibly damaging Het
Pcdh15 A T 10: 74,210,425 (GRCm38) D178V probably damaging Het
Pcsk6 T C 7: 65,929,097 (GRCm38) probably benign Het
Phxr4 T C 9: 13,431,791 (GRCm38) probably benign Het
Pkhd1 T A 1: 20,523,359 (GRCm38) D1510V probably benign Het
Pkhd1l1 T C 15: 44,597,141 (GRCm38) C4249R probably benign Het
Prpf39 T C 12: 65,055,283 (GRCm38) V378A possibly damaging Het
Psd2 A G 18: 36,004,717 (GRCm38) N455S probably damaging Het
Ptch2 C A 4: 117,109,425 (GRCm38) probably benign Het
Rab4b A G 7: 27,174,502 (GRCm38) I117T probably benign Het
Rad9b A T 5: 122,331,527 (GRCm38) V348E probably damaging Het
Rcor1 T C 12: 111,109,778 (GRCm38) probably benign Het
Rhoc A T 3: 104,791,991 (GRCm38) E32V possibly damaging Het
Rnf40 T G 7: 127,600,571 (GRCm38) V925G probably damaging Het
Rptor G T 11: 119,884,967 (GRCm38) R988L probably benign Het
Slc25a32 A T 15: 39,099,897 (GRCm38) Y176* probably null Het
Slc7a1 T A 5: 148,352,426 (GRCm38) K4* probably null Het
Ss18 A C 18: 14,679,421 (GRCm38) Y38D probably damaging Het
Syt4 T A 18: 31,447,220 (GRCm38) probably benign Het
Taar4 A T 10: 23,961,406 (GRCm38) N305Y probably damaging Het
Taar7b A T 10: 24,000,294 (GRCm38) Y119F probably benign Het
Tcaf1 G T 6: 42,686,390 (GRCm38) D185E probably benign Het
Tmem138 T C 19: 10,574,952 (GRCm38) N62S possibly damaging Het
Tnfaip2 C T 12: 111,445,810 (GRCm38) T215M probably benign Het
Tnfrsf21 C T 17: 43,038,213 (GRCm38) H239Y probably benign Het
Tnfrsf25 C T 4: 152,116,948 (GRCm38) P65S possibly damaging Het
Trp53bp1 A T 2: 121,236,759 (GRCm38) S495R possibly damaging Het
Trpv3 T C 11: 73,293,979 (GRCm38) F597S probably damaging Het
Tsc22d4 A C 5: 137,747,116 (GRCm38) M1L possibly damaging Het
Ttc39a A G 4: 109,421,453 (GRCm38) probably null Het
Ttn T G 2: 76,761,226 (GRCm38) H21033P probably damaging Het
Ugt2a3 A G 5: 87,336,718 (GRCm38) V149A possibly damaging Het
Ush2a T G 1: 188,319,070 (GRCm38) I251R possibly damaging Het
Vamp4 T C 1: 162,589,539 (GRCm38) C114R possibly damaging Het
Wdr33 T C 18: 31,833,335 (GRCm38) V135A probably damaging Het
Zc3h13 T A 14: 75,330,468 (GRCm38) V1067E probably damaging Het
Zcwpw1 G A 5: 137,810,113 (GRCm38) W274* probably null Het
Zfp219 T A 14: 52,006,706 (GRCm38) H627L 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
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
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'- TCTAAGGAGGAAGCCCATCAGAGTG -3'
(R):5'- CCCTTGTGAAGTGTATGTGTCGCC -3'

Sequencing Primer
(F):5'- AGCCCATCAGAGTGCAGTG -3'
(R):5'- TCTGGGGAGAGGGTGGG -3'
Posted On 2013-05-09