Incidental Mutation 'R1996:Plxnb2'
ID 225781
Institutional Source Beutler Lab
Gene Symbol Plxnb2
Ensembl Gene ENSMUSG00000036606
Gene Name plexin B2
Synonyms 1110007H23Rik, Debt
MMRRC Submission 040006-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.943) question?
Stock # R1996 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 89039752-89064960 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 89042971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 1473 (V1473I)
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: V1473I

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606
AA Change: V1473I

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: V1473I

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606
AA Change: V1473I

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,646,556 (GRCm39) W1069R probably damaging Het
Aaas C T 15: 102,248,494 (GRCm39) V241I probably benign Het
Abca3 A G 17: 24,606,506 (GRCm39) E787G probably damaging Het
Abi3bp A T 16: 56,491,720 (GRCm39) E582D possibly damaging Het
Adam21 A G 12: 81,606,376 (GRCm39) M462T possibly damaging Het
Alox12e T C 11: 70,207,034 (GRCm39) T591A probably benign Het
Ankmy2 T C 12: 36,243,796 (GRCm39) M337T probably benign Het
Antxrl A G 14: 33,797,786 (GRCm39) N587S probably benign Het
Apol6 T A 15: 76,934,956 (GRCm39) I75N probably benign Het
Atad2b A T 12: 5,040,883 (GRCm39) H184L probably benign Het
Atf6b A T 17: 34,871,961 (GRCm39) probably null Het
B3gnt4 G A 5: 123,649,402 (GRCm39) V256I probably damaging Het
BC034090 C T 1: 155,097,340 (GRCm39) probably benign Het
Bend4 C A 5: 67,557,527 (GRCm39) V430F probably damaging Het
Camkv A G 9: 107,824,320 (GRCm39) D244G probably damaging Het
Caps2 T A 10: 112,039,908 (GRCm39) L450Q probably damaging Het
Ccr1 T A 9: 123,763,551 (GRCm39) K326N probably benign Het
Cep135 T C 5: 76,780,113 (GRCm39) I815T probably benign Het
Chchd4 A G 6: 91,442,116 (GRCm39) Y101H probably damaging Het
Copb1 G C 7: 113,831,438 (GRCm39) A570G probably benign Het
Cpsf2 C A 12: 101,964,867 (GRCm39) T505K probably benign Het
Cwf19l2 A G 9: 3,417,947 (GRCm39) R136G probably benign Het
Daxx A G 17: 34,132,585 (GRCm39) T572A possibly damaging Het
Etaa1 C A 11: 17,902,671 (GRCm39) D89Y probably damaging Het
Ezhip GTCATCATCATCATC GTCATCATCATCATCATC X: 5,994,645 (GRCm39) probably benign Het
Fchsd2 T C 7: 100,927,660 (GRCm39) F701L probably benign Het
Fstl5 A T 3: 76,615,141 (GRCm39) H734L probably benign Het
Gabbr1 T A 17: 37,380,112 (GRCm39) W584R probably damaging Het
Galc T C 12: 98,218,285 (GRCm39) D189G probably damaging Het
Gm9979 T C 13: 40,859,228 (GRCm39) noncoding transcript Het
Grin2b T C 6: 136,021,209 (GRCm39) S31G possibly damaging Het
Gtf2ird1 T C 5: 134,405,740 (GRCm39) probably benign Het
Hoxc4 T C 15: 102,944,183 (GRCm39) I187T probably damaging Het
Hsd3b6 A T 3: 98,713,597 (GRCm39) I234N probably damaging Het
Ifit3b T C 19: 34,588,877 (GRCm39) C18R probably damaging Het
Igdcc4 T A 9: 65,029,101 (GRCm39) V246E probably damaging Het
Il1rap A T 16: 26,541,243 (GRCm39) T495S probably benign Het
Kctd19 T C 8: 106,121,932 (GRCm39) E205G probably null Het
Kif21a A T 15: 90,878,574 (GRCm39) C235* probably null Het
Krt16 A T 11: 100,139,614 (GRCm39) S35T unknown Het
Lamc2 T C 1: 153,030,216 (GRCm39) D142G possibly damaging Het
Larp4 G T 15: 99,882,844 (GRCm39) W22L probably damaging Het
Ldlrad1 C T 4: 107,072,158 (GRCm39) R127* probably null Het
Mamdc2 G A 19: 23,341,289 (GRCm39) Q229* probably null Het
Mbtd1 CT CTT 11: 93,823,222 (GRCm39) probably null Het
Msln T A 17: 25,973,193 (GRCm39) M1L possibly damaging Het
Mtch2 T C 2: 90,677,665 (GRCm39) V8A possibly damaging Het
Nav3 A T 10: 109,689,262 (GRCm39) N338K probably damaging Het
Or10x4 T C 1: 174,218,983 (GRCm39) M116T probably damaging Het
Or51a39 A G 7: 102,362,999 (GRCm39) L207P probably damaging Het
Or6c5 C A 10: 129,074,298 (GRCm39) N93K possibly damaging Het
Otof A G 5: 30,578,381 (GRCm39) V89A probably benign Het
Phka2 T C X: 159,324,411 (GRCm39) I255T probably benign Het
Pias2 T C 18: 77,216,759 (GRCm39) probably null Het
Pja2 T A 17: 64,594,639 (GRCm39) probably null Het
Pnpt1 T A 11: 29,091,679 (GRCm39) D363E probably benign Het
Prdm5 A G 6: 65,913,072 (GRCm39) Y207C probably damaging Het
Rexo5 T A 7: 119,423,080 (GRCm39) V304E probably damaging Het
Robo1 G T 16: 72,767,067 (GRCm39) R413L probably benign Het
Rsf1 G A 7: 97,313,839 (GRCm39) E864K probably damaging Het
Scap C T 9: 110,202,039 (GRCm39) probably benign Het
Scn8a T A 15: 100,922,260 (GRCm39) M1311K probably damaging Het
Slc28a2 A T 2: 122,286,043 (GRCm39) I460F probably damaging Het
Smco1 A G 16: 32,092,730 (GRCm39) R134G probably benign Het
Spopfm1 A T 3: 94,173,018 (GRCm39) M9L probably benign Het
Sspo A G 6: 48,452,424 (GRCm39) E2651G possibly damaging Het
Stab2 T C 10: 86,838,895 (GRCm39) N57S probably damaging Het
Tenm3 C A 8: 48,681,703 (GRCm39) Q2642H probably damaging Het
Thsd7b G T 1: 129,686,188 (GRCm39) E577* probably null Het
Tlr3 A G 8: 45,850,734 (GRCm39) V721A probably benign Het
Tnik A G 3: 28,719,829 (GRCm39) I1226V probably damaging Het
Traf3 A G 12: 111,227,095 (GRCm39) K328E probably benign Het
Tyw1 T A 5: 130,291,652 (GRCm39) probably benign Het
Vmn1r213 T G 13: 23,196,473 (GRCm39) V352G probably benign Het
Vmn2r111 T C 17: 22,767,062 (GRCm39) I812V probably benign Het
Vmn2r26 A G 6: 124,038,144 (GRCm39) N573S probably damaging Het
Vmn2r45 G A 7: 8,475,024 (GRCm39) T668I probably damaging Het
Zbtb20 T A 16: 43,430,443 (GRCm39) V318E probably damaging Het
Zc2hc1c A G 12: 85,343,434 (GRCm39) R524G probably benign Het
Zc3h18 C G 8: 123,134,126 (GRCm39) probably benign Het
Zfp618 T C 4: 63,049,452 (GRCm39) probably null 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
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
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'- ATGCTCTGCTCATTCCCAGG -3'
(R):5'- GAGTATGCGCCTCTGGTAAG -3'

Sequencing Primer
(F):5'- TCTGCTCATTCCCAGGCAGAG -3'
(R):5'- TGGTAAGTCCCCCAGAGC -3'
Posted On 2014-08-25