Incidental Mutation 'R3955:Plxnb3'
ID 310674
Institutional Source Beutler Lab
Gene Symbol Plxnb3
Ensembl Gene ENSMUSG00000031385
Gene Name plexin B3
Synonyms Plxn6
MMRRC Submission 040832-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3955 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 72800696-72816120 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72814826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1789 (V1789A)
Ref Sequence ENSEMBL: ENSMUSP00000002079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002079] [ENSMUST00000002081]
AlphaFold Q9QY40
Predicted Effect probably benign
Transcript: ENSMUST00000002079
AA Change: V1789A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000002079
Gene: ENSMUSG00000031385
AA Change: V1789A

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
Sema 44 445 5.53e-102 SMART
PSI 463 515 8.91e-10 SMART
Blast:Sema 533 592 2e-9 BLAST
PSI 609 671 8.95e-1 SMART
PSI 776 822 5e-1 SMART
IPT 823 914 7.15e-15 SMART
IPT 915 1001 5.63e-13 SMART
IPT 1003 1134 7.17e-1 SMART
Pfam:TIG 1148 1232 7.7e-7 PFAM
low complexity region 1246 1265 N/A INTRINSIC
Pfam:Plexin_cytopl 1317 1869 2.7e-225 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000002081
SMART Domains Protein: ENSMUSP00000002081
Gene: ENSMUSG00000002007

DomainStartEndE-ValueType
low complexity region 6 31 N/A INTRINSIC
Pfam:Pkinase 78 228 1.4e-22 PFAM
Pfam:Pkinase_Tyr 78 230 1.1e-9 PFAM
coiled coil region 260 300 N/A INTRINSIC
low complexity region 325 338 N/A INTRINSIC
low complexity region 341 360 N/A INTRINSIC
Pfam:Pkinase 385 563 2.2e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136664
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147127
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149478
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155096
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the plexin family. It functions as a receptor for semaphorin 5A, and plays a role in axon guidance, invasive growth and cell migration. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal retinal stratification. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,834 (GRCm39) T1008A probably benign Het
Abcc5 G C 16: 20,224,293 (GRCm39) H97D probably damaging Het
Acbd7 T C 2: 3,337,250 (GRCm39) S2P probably benign Het
Acta2 G T 19: 34,229,126 (GRCm39) probably benign Het
Adam2 G A 14: 66,295,059 (GRCm39) S262L probably damaging Het
Ajm1 G T 2: 25,467,583 (GRCm39) S776* probably null Het
Ccnq C A 11: 78,641,849 (GRCm39) E214* probably null Het
Cd69 A T 6: 129,245,343 (GRCm39) probably null Het
Cpsf3 A G 12: 21,363,806 (GRCm39) D632G probably benign Het
Dennd5a A G 7: 109,504,906 (GRCm39) M868T probably benign Het
Dscc1 T C 15: 54,946,949 (GRCm39) T259A probably benign Het
Dsg4 G A 18: 20,582,432 (GRCm39) probably null Het
Igfn1 A G 1: 135,894,918 (GRCm39) Y1883H possibly damaging Het
Insyn1 A T 9: 58,406,906 (GRCm39) D272V probably damaging Het
Krt20 G A 11: 99,323,037 (GRCm39) Q262* probably null Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Lmod2 G T 6: 24,603,870 (GRCm39) V282L probably benign Het
Lrrc49 A G 9: 60,578,642 (GRCm39) I228T probably damaging Het
Matn1 G A 4: 130,678,726 (GRCm39) probably null Het
Nek7 C A 1: 138,462,127 (GRCm39) C79F probably damaging Het
Nmt2 A G 2: 3,313,535 (GRCm39) D132G probably benign Het
Nup210l A T 3: 90,100,361 (GRCm39) R1462S possibly damaging Het
Obscn G A 11: 58,927,594 (GRCm39) S6118F probably damaging Het
Or14j6 A T 17: 38,214,500 (GRCm39) H21L probably benign Het
Or1j21 T A 2: 36,683,565 (GRCm39) L106M probably benign Het
Or4c12 T A 2: 89,774,172 (GRCm39) M96L possibly damaging Het
Or51f1 A G 7: 102,505,824 (GRCm39) C222R probably damaging Het
Or5al1 A G 2: 85,990,282 (GRCm39) V144A probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Qrfprl A T 6: 65,430,092 (GRCm39) I263L possibly damaging Het
Rab3gap1 A G 1: 127,862,254 (GRCm39) Q675R probably damaging Het
Rasgrf2 A G 13: 92,130,974 (GRCm39) S696P probably damaging Het
Sergef T A 7: 46,268,176 (GRCm39) E210V possibly damaging Het
Sik3 C A 9: 46,109,891 (GRCm39) N541K probably damaging Het
Slc26a1 T C 5: 108,821,448 (GRCm39) D147G possibly damaging Het
Tbc1d14 G A 5: 36,700,559 (GRCm39) R270* probably null Het
Tbc1d9 C T 8: 83,960,161 (GRCm39) T138I probably damaging Het
Tdp2 C T 13: 25,020,082 (GRCm39) T123I probably benign Het
Tec T C 5: 72,939,520 (GRCm39) probably null Het
Tmf1 C A 6: 97,153,167 (GRCm39) R302L probably damaging Het
Tnip3 A T 6: 65,574,379 (GRCm39) T137S possibly damaging Het
Trim30d C T 7: 104,121,728 (GRCm39) G339D probably damaging Het
Tspan32 T A 7: 142,560,735 (GRCm39) M61K probably damaging Het
Ttc6 T C 12: 57,744,238 (GRCm39) V1290A probably benign Het
Ttn A G 2: 76,799,593 (GRCm39) V429A possibly damaging Het
Unc13b A G 4: 43,256,834 (GRCm39) Y3962C probably damaging Het
Vmn2r95 T A 17: 18,660,358 (GRCm39) Y257N possibly damaging Het
Zfp677 A G 17: 21,618,079 (GRCm39) K379E possibly damaging Het
Zfp865 T A 7: 5,035,013 (GRCm39) D999E probably damaging Het
Other mutations in Plxnb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02966:Plxnb3 APN X 72,808,889 (GRCm39) missense probably benign 0.04
perplexed UTSW X 72,815,357 (GRCm39) nonsense probably null
R0614:Plxnb3 UTSW X 72,807,964 (GRCm39) splice site probably benign
R2062:Plxnb3 UTSW X 72,815,357 (GRCm39) nonsense probably null
R2063:Plxnb3 UTSW X 72,815,357 (GRCm39) nonsense probably null
R2064:Plxnb3 UTSW X 72,815,357 (GRCm39) nonsense probably null
R2065:Plxnb3 UTSW X 72,815,357 (GRCm39) nonsense probably null
R2066:Plxnb3 UTSW X 72,815,357 (GRCm39) nonsense probably null
R2068:Plxnb3 UTSW X 72,815,357 (GRCm39) nonsense probably null
R3957:Plxnb3 UTSW X 72,814,826 (GRCm39) missense probably benign 0.02
R7918:Plxnb3 UTSW X 72,811,251 (GRCm39) missense probably benign 0.01
R8461:Plxnb3 UTSW X 72,803,103 (GRCm39) missense probably damaging 1.00
X0025:Plxnb3 UTSW X 72,802,938 (GRCm39) missense probably benign
Z1176:Plxnb3 UTSW X 72,802,771 (GRCm39) missense probably damaging 1.00
Z1177:Plxnb3 UTSW X 72,813,219 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACATCCATGTGCAGGAGTGG -3'
(R):5'- TCACTGGGGAATCCTACTCCAAG -3'

Sequencing Primer
(F):5'- TGCAGGAGTGGGGAGCTG -3'
(R):5'- CTCCAAGTAGAAGAGGTGAGAAGTG -3'
Posted On 2015-04-29