Incidental Mutation 'R6522:Plxnb2'
ID 521416
Institutional Source Beutler Lab
Gene Symbol Plxnb2
Ensembl Gene ENSMUSG00000036606
Gene Name plexin B2
Synonyms 1110007H23Rik, Debt
MMRRC Submission 044648-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.938) question?
Stock # R6522 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 89039752-89064960 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89048629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 626 (N626S)
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: N626S

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606
AA Change: N626S

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: N626S

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606
AA Change: N626S

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 100% (56/56)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb C A 10: 10,253,636 (GRCm39) E1209* probably null Het
Adgrg5 G T 8: 95,668,696 (GRCm39) R503L probably benign Het
Anks1b C T 10: 90,733,189 (GRCm39) probably benign Het
Anxa5 A T 3: 36,519,451 (GRCm39) F13I probably damaging Het
Bicd1 A G 6: 149,385,503 (GRCm39) I79V probably benign Het
Bnip1 A G 17: 27,008,719 (GRCm39) D107G probably damaging Het
Ccdc42 A G 11: 68,479,046 (GRCm39) E78G probably damaging Het
Ccnk A G 12: 108,153,446 (GRCm39) D69G probably damaging Het
Clec2i G T 6: 128,870,692 (GRCm39) V77F probably damaging Het
Clec4g A C 8: 3,768,803 (GRCm39) V62G probably benign Het
Col4a4 G A 1: 82,465,304 (GRCm39) A957V unknown Het
Csnk1d A G 11: 120,862,449 (GRCm39) F277L probably damaging Het
Dip2c G A 13: 9,625,264 (GRCm39) probably null Het
Dpf2 T A 19: 5,955,560 (GRCm39) K108* probably null Het
Dync1h1 G A 12: 110,583,171 (GRCm39) D423N probably damaging Het
Fbxl13 T C 5: 21,766,554 (GRCm39) probably null Homo
Flad1 T C 3: 89,310,490 (GRCm39) R488G probably damaging Het
Galnt6 A C 15: 100,591,236 (GRCm39) *623E probably null Het
Gtf2e1 T C 16: 37,331,816 (GRCm39) T420A possibly damaging Het
Hspg2 T C 4: 137,282,586 (GRCm39) V3442A probably damaging Het
Itpr1 A G 6: 108,365,237 (GRCm39) D55G probably damaging Het
Kdm2a C A 19: 4,374,854 (GRCm39) R759L possibly damaging Het
Kif19a A G 11: 114,676,605 (GRCm39) E478G probably damaging Het
Lamb3 G A 1: 193,017,761 (GRCm39) V881I probably benign Het
Map3k6 T C 4: 132,977,335 (GRCm39) L894P possibly damaging Het
Mast4 A G 13: 102,897,801 (GRCm39) probably null Het
Mst1r G A 9: 107,790,438 (GRCm39) V684M probably benign Het
Naa15 T C 3: 51,378,935 (GRCm39) S727P probably damaging Het
Nap1l1 T C 10: 111,330,084 (GRCm39) L330S probably damaging Het
Nav2 A G 7: 49,247,281 (GRCm39) T2205A probably damaging Het
Ncf2 T C 1: 152,703,214 (GRCm39) probably null Het
Opa1 T A 16: 29,444,332 (GRCm39) N839K probably benign Het
Or4c104 T C 2: 88,586,452 (GRCm39) D189G probably damaging Het
Or52a33 T C 7: 103,288,504 (GRCm39) Y281C probably damaging Het
Or52n4b G A 7: 108,144,202 (GRCm39) V155I probably benign Het
Pcdha7 T C 18: 37,106,995 (GRCm39) Y7H possibly damaging Het
Pcdhb15 T C 18: 37,607,314 (GRCm39) V182A probably benign Het
Phf10 A T 17: 15,176,269 (GRCm39) I128N probably damaging Het
Plce1 T A 19: 38,736,965 (GRCm39) probably null Het
Prh1 G A 6: 132,548,996 (GRCm39) G168R unknown Het
Prss51 A G 14: 64,334,855 (GRCm39) T137A possibly damaging Het
Ptprcap C T 19: 4,206,183 (GRCm39) R89C possibly damaging Het
Scfd1 A G 12: 51,478,324 (GRCm39) K512R probably benign Het
Serpina1b A C 12: 103,701,296 (GRCm39) probably null Het
Setbp1 T C 18: 78,900,605 (GRCm39) T1021A probably damaging Het
Slco1b2 G A 6: 141,601,145 (GRCm39) probably null Het
Snrnp200 C T 2: 127,063,747 (GRCm39) T642I probably benign Het
Tenm4 A C 7: 96,492,251 (GRCm39) I1063L possibly damaging Het
Tfb2m G A 1: 179,373,611 (GRCm39) A29V probably benign Het
Tfeb T C 17: 48,100,627 (GRCm39) V140A probably damaging Het
Tmem104 A T 11: 115,134,579 (GRCm39) I372F probably damaging Het
Tmem132d G T 5: 127,860,832 (GRCm39) H1096Q probably benign Het
Trim12c A T 7: 103,997,531 (GRCm39) N8K probably benign Het
Tti2 A G 8: 31,643,631 (GRCm39) I249V probably null Het
Vps8 T A 16: 21,261,129 (GRCm39) L90I probably damaging Het
Vwf A T 6: 125,639,926 (GRCm39) probably null Het
Wdfy4 A G 14: 32,868,901 (GRCm39) S376P 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
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
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'- TCCCGACACTCGTAGTACTG -3'
(R):5'- GGGGTATCCATATTGTATCCCC -3'

Sequencing Primer
(F):5'- ACACTCGTAGTACTGCAGGTC -3'
(R):5'- AGAATAGACCTCCTCTCCGCTGG -3'
Posted On 2018-06-06