Incidental Mutation 'R7522:Plxnb2'
ID 582751
Institutional Source Beutler Lab
Gene Symbol Plxnb2
Ensembl Gene ENSMUSG00000036606
Gene Name plexin B2
Synonyms 1110007H23Rik, Debt
MMRRC Submission 045594-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.938) question?
Stock # R7522 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 89039752-89064960 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89045977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 966 (I966T)
Ref Sequence ENSEMBL: ENSMUSP00000051731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060808] [ENSMUST00000109331]
AlphaFold B2RXS4
Predicted Effect probably benign
Transcript: ENSMUST00000060808
AA Change: I966T

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606
AA Change: I966T

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: I966T

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606
AA Change: I966T

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (75/77)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030014E15Rik G T 1: 82,902,949 (GRCm39) C82F unknown Het
Adam21 G C 12: 81,605,722 (GRCm39) T680R possibly damaging Het
Adgrf4 A C 17: 42,980,675 (GRCm39) Y137D probably benign Het
Ago3 T C 4: 126,257,600 (GRCm39) K477R probably benign Het
Ahnak T A 19: 8,979,686 (GRCm39) D323E probably benign Het
Amph A G 13: 19,270,715 (GRCm39) D108G probably damaging Het
Ankrd10 A T 8: 11,682,910 (GRCm39) C106S probably damaging Het
Bmp5 A T 9: 75,683,384 (GRCm39) T4S probably benign Het
Brix1 G A 15: 10,476,676 (GRCm39) R267C probably damaging Het
Calcrl G A 2: 84,203,708 (GRCm39) S24L probably benign Het
Ccdc40 T G 11: 119,123,047 (GRCm39) I213R possibly damaging Het
Cd300lg A G 11: 101,945,028 (GRCm39) I413V probably benign Het
Cdh3 G A 8: 107,268,005 (GRCm39) D347N probably damaging Het
Clcn3 T C 8: 61,394,446 (GRCm39) T55A probably benign Het
Cnga4 A G 7: 105,055,195 (GRCm39) T260A probably damaging Het
Cpne8 G T 15: 90,486,022 (GRCm39) P147Q probably benign Het
Cpsf6 A G 10: 117,203,734 (GRCm39) Y74H unknown Het
Cryl1 A T 14: 57,513,428 (GRCm39) S264R probably benign Het
Cyp39a1 C T 17: 43,978,370 (GRCm39) probably benign Het
Cyp4f39 T C 17: 32,705,946 (GRCm39) S346P probably damaging Het
Cyria A G 12: 12,408,057 (GRCm39) T28A possibly damaging Het
Ddhd1 G A 14: 45,895,104 (GRCm39) A122V possibly damaging Het
Dnmt1 C A 9: 20,831,498 (GRCm39) C662F probably damaging Het
E2f6 G A 12: 16,872,125 (GRCm39) G190S probably benign Het
Esp34 A T 17: 38,870,432 (GRCm39) I109F possibly damaging Het
Espl1 A T 15: 102,213,486 (GRCm39) D604V probably damaging Het
Exo1 T C 1: 175,728,870 (GRCm39) C645R probably benign Het
Fah A G 7: 84,246,282 (GRCm39) V189A probably benign Het
Fam184b A C 5: 45,688,093 (GRCm39) Y939D probably damaging Het
Fchsd2 T A 7: 100,908,829 (GRCm39) L410* probably null Het
Gak A T 5: 108,739,065 (GRCm39) I665N possibly damaging Het
Galnt9 A G 5: 110,743,705 (GRCm39) probably null Het
Gcg T C 2: 62,306,103 (GRCm39) R165G probably benign Het
Hexd T C 11: 121,108,923 (GRCm39) V214A possibly damaging Het
Hoxb3 A T 11: 96,235,507 (GRCm39) S145C probably damaging Het
Il18 A G 9: 50,486,640 (GRCm39) Y23C probably damaging Het
Itgav A T 2: 83,632,373 (GRCm39) I954F probably benign Het
Kcna4 A G 2: 107,126,600 (GRCm39) R445G probably damaging Het
Kyat3 T A 3: 142,440,305 (GRCm39) L343Q probably damaging Het
Lgals4 A T 7: 28,537,117 (GRCm39) D139V possibly damaging Het
Lrp3 C T 7: 34,903,755 (GRCm39) G197D probably damaging Het
Lyst T A 13: 13,821,668 (GRCm39) C1347* probably null Het
Man2a2 G C 7: 80,018,613 (GRCm39) A82G probably benign Het
Map3k4 T C 17: 12,480,219 (GRCm39) Q661R probably benign Het
Marcks A C 10: 37,012,577 (GRCm39) F153V unknown Het
Mocs1 T C 17: 49,742,292 (GRCm39) probably null Het
Naa60 A G 16: 3,719,768 (GRCm39) T232A probably benign Het
Oosp1 A T 19: 11,666,065 (GRCm39) I75N probably benign Het
Opn3 A G 1: 175,493,189 (GRCm39) V125A probably benign Het
Or2ag18 A G 7: 106,404,994 (GRCm39) V225A probably damaging Het
Or2f1 T A 6: 42,721,568 (GRCm39) I199N probably damaging Het
Or4c102 A G 2: 88,423,005 (GRCm39) T286A possibly damaging Het
Or7g27 T A 9: 19,250,294 (GRCm39) C179* probably null Het
Palb2 T C 7: 121,712,501 (GRCm39) T947A probably damaging Het
Pde5a C T 3: 122,634,648 (GRCm39) R730* probably null Het
Plcl1 T C 1: 55,735,523 (GRCm39) I288T probably benign Het
Prkcz T C 4: 155,355,742 (GRCm39) E400G probably damaging Het
Prpf8 A G 11: 75,400,102 (GRCm39) D2332G possibly damaging Het
Ptgds T G 2: 25,357,920 (GRCm39) T154P probably benign Het
Rel T C 11: 23,720,676 (GRCm39) probably null Het
Rxylt1 A G 10: 121,917,344 (GRCm39) W390R probably damaging Het
Serpinb1c T A 13: 33,066,200 (GRCm39) K248N probably benign Het
Shkbp1 A C 7: 27,046,583 (GRCm39) W394G possibly damaging Het
Slc47a2 A G 11: 61,193,076 (GRCm39) V559A probably benign Het
Sox6 A T 7: 115,400,813 (GRCm39) F10I probably damaging Het
Stkld1 T C 2: 26,837,259 (GRCm39) V303A probably benign Het
Styk1 T A 6: 131,289,803 (GRCm39) probably null Het
Tet1 T C 10: 62,654,762 (GRCm39) T1574A possibly damaging Het
Tkt A T 14: 30,290,180 (GRCm39) I270F possibly damaging Het
Trak1 A G 9: 121,271,777 (GRCm39) E166G probably damaging Het
Tsc2 A T 17: 24,849,939 (GRCm39) I58N probably damaging Het
Uhmk1 T A 1: 170,042,809 (GRCm39) M1L probably benign Het
Usp50 T C 2: 126,625,146 (GRCm39) Y21C probably damaging Het
Vmn1r180 C G 7: 23,652,685 (GRCm39) P283A probably damaging Het
Vmn1r83 A G 7: 12,055,505 (GRCm39) M184T possibly damaging Het
Vmn2r109 A G 17: 20,774,665 (GRCm39) I230T probably benign 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
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
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'- TGCCACATTCCTCAGGTCAG -3'
(R):5'- TCAATGACGTCCCTTGTGAAGTG -3'

Sequencing Primer
(F):5'- ATTCCTCAGGTCAGCGGGC -3'
(R):5'- AAGTGTATGTGTCGCCCATG -3'
Posted On 2019-10-17