Incidental Mutation 'R5813:Plxnb2'
ID 447648
Institutional Source Beutler Lab
Gene Symbol Plxnb2
Ensembl Gene ENSMUSG00000036606
Gene Name plexin B2
Synonyms 1110007H23Rik, Debt
Accession Numbers
Essential gene? Probably essential (E-score: 0.943) question?
Stock # R5813 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 89039752-89064960 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89044962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1128 (T1128A)
Ref Sequence ENSEMBL: ENSMUSP00000051731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060808] [ENSMUST00000109331]
AlphaFold B2RXS4
Predicted Effect possibly damaging
Transcript: ENSMUST00000060808
AA Change: T1128A

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606
AA Change: T1128A

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: T1128A

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606
AA Change: T1128A

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 A G 3: 89,253,135 (GRCm39) Y230H probably benign Het
Ano7 G T 1: 93,312,641 (GRCm39) probably null Het
Arap2 T C 5: 62,834,506 (GRCm39) Y792C probably damaging Het
Art3 C A 5: 92,560,100 (GRCm39) probably benign Het
Atad2 C T 15: 57,963,250 (GRCm39) G1085D probably benign Het
Birc6 C A 17: 74,953,497 (GRCm39) A3253E probably damaging Het
C9 C T 15: 6,526,607 (GRCm39) P547L probably benign Het
Cecr2 T C 6: 120,739,169 (GRCm39) S1271P probably damaging Het
Ces1e T A 8: 93,948,305 (GRCm39) K105* probably null Het
Cpsf4 A G 5: 145,115,683 (GRCm39) N204S probably benign Het
Cracd A G 5: 77,006,275 (GRCm39) T879A unknown Het
Dgkz T C 2: 91,769,733 (GRCm39) D615G possibly damaging Het
Disp1 G T 1: 182,869,974 (GRCm39) N815K probably damaging Het
Enah A G 1: 181,758,750 (GRCm39) probably benign Het
Fcgbp A G 7: 27,800,919 (GRCm39) T1322A possibly damaging Het
Frem1 A G 4: 82,918,395 (GRCm39) F516L probably damaging Het
Fry G A 5: 150,323,136 (GRCm39) A1096T probably damaging Het
Fyco1 T C 9: 123,660,413 (GRCm39) Y190C probably damaging Het
Gfra1 T C 19: 58,227,687 (GRCm39) D417G probably benign Het
Gigyf2 T C 1: 87,368,485 (GRCm39) I1055T probably damaging Het
Invs A G 4: 48,398,146 (GRCm39) E444G probably damaging Het
Itga10 A G 3: 96,559,901 (GRCm39) T519A probably benign Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kdm2b A G 5: 123,009,931 (GRCm39) S727P probably benign Het
Kidins220 A T 12: 25,107,139 (GRCm39) K1531* probably null Het
Ksr1 C T 11: 78,929,024 (GRCm39) V266M probably damaging Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Lipi T C 16: 75,370,798 (GRCm39) R140G possibly damaging Het
Lrrc32 T C 7: 98,147,618 (GRCm39) S133P probably damaging Het
Map3k7 T A 4: 31,964,318 (GRCm39) I19N probably damaging Het
Marf1 A G 16: 13,970,449 (GRCm39) V90A probably benign Het
Mark3 T C 12: 111,621,877 (GRCm39) L673P probably damaging Het
Meis1 T C 11: 18,966,229 (GRCm39) H48R probably benign Het
Mettl26 G A 17: 26,094,995 (GRCm39) V87M probably damaging Het
Mknk2 T C 10: 80,511,696 (GRCm39) R5G probably benign Het
Mtcl3 G T 10: 29,026,240 (GRCm39) V441F probably damaging Het
Mterf1b T C 5: 4,246,956 (GRCm39) V199A possibly damaging Het
Ncs1 T A 2: 31,170,666 (GRCm39) probably null Het
Nek10 T C 14: 14,986,704 (GRCm38) V1014A probably benign Het
Notch2 A G 3: 98,042,744 (GRCm39) N1370D probably benign Het
Nr2e3 TCCATCGGAGTGTTCCC TC 9: 59,850,701 (GRCm39) probably benign Het
Opn5 C G 17: 42,903,897 (GRCm39) R146T probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or5m3 T C 2: 85,838,636 (GRCm39) I172T probably damaging Het
Or8b55 T A 9: 38,726,952 (GRCm39) M51K probably benign Het
Or8g33 A G 9: 39,338,032 (GRCm39) C112R probably damaging Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Pcyox1l C T 18: 61,832,359 (GRCm39) probably null Het
Prex1 T C 2: 166,425,127 (GRCm39) T960A probably benign Het
Prkaa2 A C 4: 104,893,291 (GRCm39) *553G probably null Het
Rasgrp4 A G 7: 28,844,639 (GRCm39) D297G probably damaging Het
Sdf4 G A 4: 156,083,856 (GRCm39) V109I probably benign Het
Serpinb3d T C 1: 107,007,027 (GRCm39) K227R probably benign Het
Sgsm1 A T 5: 113,398,822 (GRCm39) I750N probably damaging Het
Shtn1 T A 19: 59,020,673 (GRCm39) K183M probably damaging Het
Skic3 A G 13: 76,303,852 (GRCm39) T1257A probably benign Het
Slc22a30 T C 19: 8,381,945 (GRCm39) T109A probably benign Het
Slco1c1 A G 6: 141,487,929 (GRCm39) D99G probably damaging Het
Tcf25 T A 8: 124,122,354 (GRCm39) probably null Het
Tex10 A G 4: 48,452,928 (GRCm39) V677A probably benign Het
Tmem131l A G 3: 83,847,879 (GRCm39) S329P probably benign Het
Trappc10 T A 10: 78,058,573 (GRCm39) N136I probably damaging Het
Trpt1 T C 19: 6,975,906 (GRCm39) F173L probably benign Het
Ube4b G A 4: 149,421,925 (GRCm39) R955C probably damaging Het
Usp34 C A 11: 23,371,340 (GRCm39) P1840T probably benign Het
Vmn1r27 A T 6: 58,192,985 (GRCm39) N6K possibly damaging Het
Wdr25 T C 12: 108,993,347 (GRCm39) V521A possibly damaging Het
Wdr64 G A 1: 175,639,623 (GRCm39) E1031K possibly damaging Het
Wnt10a A G 1: 74,839,755 (GRCm39) N147S probably damaging Het
Zbed5 T C 5: 129,931,059 (GRCm39) I336T possibly damaging Het
Zfp758 T A 17: 22,594,796 (GRCm39) H427Q probably damaging Het
Zfp961 C A 8: 72,722,070 (GRCm39) H194Q 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
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
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'- TTCACCTGTGTGGAAGCTAGGG -3'
(R):5'- TTGAGAACTTCACGGGTGGC -3'

Sequencing Primer
(F):5'- TTCTCCTGAGAGGCTCCCCAG -3'
(R):5'- CTTCACGGGTGGCGTCAAAAAG -3'
Posted On 2016-12-15