Incidental Mutation 'R3783:Plxna2'
ID 272107
Institutional Source Beutler Lab
Gene Symbol Plxna2
Ensembl Gene ENSMUSG00000026640
Gene Name plexin A2
Synonyms 2810428A13Rik, OCT, PlexA2, Plxn2
MMRRC Submission 040875-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3783 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 194618218-194816869 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 194807521 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 1692 (V1692E)
Ref Sequence ENSEMBL: ENSMUSP00000027952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027952]
AlphaFold P70207
PDB Structure Plexin A2 / Semaphorin 6A complex [X-RAY DIFFRACTION]
Mouse Plexin A2 extracellular domain [X-RAY DIFFRACTION]
Mouse Plexin A2, extracellular domains 1-4 [X-RAY DIFFRACTION]
Plexin A2 in complex with Semaphorin 6A [X-RAY DIFFRACTION]
Complex of mouse Plexin A2 - Semaphorin 3A - Neuropilin-1 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000027952
AA Change: V1692E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027952
Gene: ENSMUSG00000026640
AA Change: V1692E

DomainStartEndE-ValueType
low complexity region 16 29 N/A INTRINSIC
Sema 50 492 1.65e-132 SMART
PSI 510 560 8e-12 SMART
PSI 655 702 6.35e-6 SMART
PSI 803 856 1.24e-8 SMART
IPT 857 952 6.36e-21 SMART
IPT 953 1038 1.02e-24 SMART
IPT 1040 1140 1.48e-21 SMART
IPT 1142 1237 8.81e-6 SMART
transmembrane domain 1238 1260 N/A INTRINSIC
Pfam:Plexin_cytopl 1311 1864 1.9e-261 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124785
Meta Mutation Damage Score 0.9125 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 98% (45/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the plexin-A family of semaphorin co-receptors. Semaphorins are a large family of secreted or membrane-bound proteins that mediate repulsive effects on axon pathfinding during nervous system development. A subset of semaphorins are recognized by plexin-A/neuropilin transmembrane receptor complexes, triggering a cellular signal transduction cascade that leads to axon repulsion. This plexin-A family member is thought to transduce signals from semaphorin-3A and -3C. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show abnormal granule cell migration in the adult cerebellum and aberrant projection of mossy fibers in hippocampal slices. Mice homozygous for an ENU-induced allele are smaller and show granule cell migration defects and mild ataxia with incomplete penetrance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,794,154 (GRCm38) C172* probably null Het
Akap6 A G 12: 52,880,769 (GRCm38) H154R probably damaging Het
Aoc1 T C 6: 48,905,655 (GRCm38) L177P probably damaging Het
Ascc3 A G 10: 50,728,254 (GRCm38) T1357A probably damaging Het
Atp13a3 A T 16: 30,354,249 (GRCm38) V270D probably damaging Het
BC055324 A T 1: 163,987,683 (GRCm38) C90S probably benign Het
Carmil3 T C 14: 55,496,976 (GRCm38) F418S probably damaging Het
Ccdc93 A G 1: 121,437,869 (GRCm38) N77S probably damaging Het
Cpt1b T C 15: 89,425,189 (GRCm38) K47R probably damaging Het
Cyp4f14 A G 17: 32,916,762 (GRCm38) Y42H probably benign Het
Dmxl1 G A 18: 49,865,122 (GRCm38) S763N probably damaging Het
Fam129a C T 1: 151,689,648 (GRCm38) S243L possibly damaging Het
Fancd2 T G 6: 113,565,204 (GRCm38) S770A probably damaging Het
Flnb T G 14: 7,889,236 (GRCm38) W529G probably benign Het
Fryl T C 5: 73,101,476 (GRCm38) Y655C probably benign Het
Gml C T 15: 74,813,672 (GRCm38) V155M probably damaging Het
Gpr174 A G X: 107,293,064 (GRCm38) T161A probably benign Het
Heatr1 G T 13: 12,434,460 (GRCm38) L1946F probably damaging Het
Inpp5k T C 11: 75,647,686 (GRCm38) L461P probably damaging Het
Isy1 T C 6: 87,821,545 (GRCm38) E209G possibly damaging Het
Kdm5b A G 1: 134,630,542 (GRCm38) H1429R probably benign Het
Magi2 C T 5: 20,465,909 (GRCm38) T580M probably damaging Het
Map3k1 C T 13: 111,756,220 (GRCm38) V834I probably benign Het
Mdn1 A T 4: 32,720,818 (GRCm38) E2310D probably benign Het
Myo15 A T 11: 60,477,572 (GRCm38) Y386F probably damaging Het
Neurod1 T A 2: 79,454,595 (GRCm38) N148I probably damaging Het
Nsa2 G T 13: 97,135,534 (GRCm38) Q60K possibly damaging Het
Pcdha1 T A 18: 36,930,802 (GRCm38) L173Q probably damaging Het
Pdpk1 T C 17: 24,110,850 (GRCm38) T71A possibly damaging Het
Pmepa1 G A 2: 173,228,133 (GRCm38) R210W probably damaging Het
Psg27 T A 7: 18,560,354 (GRCm38) Q376L probably damaging Het
Psmd4 T C 3: 95,035,251 (GRCm38) D6G possibly damaging Het
Ptch1 T G 13: 63,524,959 (GRCm38) E944A probably benign Het
Rala T A 13: 17,882,446 (GRCm38) E185V probably benign Het
Sall4 A G 2: 168,756,123 (GRCm38) S266P probably damaging Het
Scn10a T C 9: 119,691,562 (GRCm38) T91A probably damaging Het
Synrg T C 11: 84,001,920 (GRCm38) F613S probably damaging Het
Tekt1 A G 11: 72,344,894 (GRCm38) I376T probably damaging Het
Tet2 T C 3: 133,479,363 (GRCm38) K1182R possibly damaging Het
Thbs4 T C 13: 92,773,164 (GRCm38) N375S probably benign Het
Thoc5 A G 11: 4,920,372 (GRCm38) probably benign Het
Tmprss9 G T 10: 80,887,467 (GRCm38) V254F probably damaging Het
Tro G A X: 150,655,052 (GRCm38) T203I possibly damaging Het
Ttbk2 A T 2: 120,773,815 (GRCm38) probably benign Het
Usf2 A G 7: 30,955,831 (GRCm38) V133A probably benign Het
Wap G A 11: 6,638,550 (GRCm38) Q25* probably null Het
Xdh C T 17: 73,893,595 (GRCm38) probably benign Het
Xrn1 G T 9: 95,969,285 (GRCm38) M153I probably benign Het
Other mutations in Plxna2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Plxna2 APN 1 194,644,657 (GRCm38) missense probably damaging 1.00
IGL00332:Plxna2 APN 1 194,789,830 (GRCm38) missense probably damaging 0.98
IGL00392:Plxna2 APN 1 194,800,568 (GRCm38) missense probably damaging 1.00
IGL00432:Plxna2 APN 1 194,644,096 (GRCm38) missense probably benign 0.03
IGL00704:Plxna2 APN 1 194,751,461 (GRCm38) missense probably damaging 0.99
IGL00737:Plxna2 APN 1 194,746,239 (GRCm38) splice site probably benign
IGL01078:Plxna2 APN 1 194,786,693 (GRCm38) unclassified probably benign
IGL01354:Plxna2 APN 1 194,762,435 (GRCm38) missense probably benign 0.02
IGL01432:Plxna2 APN 1 194,644,318 (GRCm38) missense possibly damaging 0.58
IGL01459:Plxna2 APN 1 194,764,570 (GRCm38) missense probably benign 0.00
IGL01525:Plxna2 APN 1 194,712,311 (GRCm38) missense probably benign 0.00
IGL01656:Plxna2 APN 1 194,790,161 (GRCm38) missense possibly damaging 0.52
IGL01825:Plxna2 APN 1 194,788,902 (GRCm38) missense probably damaging 0.98
IGL01862:Plxna2 APN 1 194,643,950 (GRCm38) missense possibly damaging 0.87
IGL01899:Plxna2 APN 1 194,751,488 (GRCm38) missense probably damaging 1.00
IGL01996:Plxna2 APN 1 194,799,776 (GRCm38) missense probably damaging 0.99
IGL02123:Plxna2 APN 1 194,794,383 (GRCm38) missense probably damaging 1.00
IGL02226:Plxna2 APN 1 194,644,424 (GRCm38) missense probably damaging 1.00
IGL02227:Plxna2 APN 1 194,752,089 (GRCm38) missense probably damaging 1.00
IGL02415:Plxna2 APN 1 194,643,964 (GRCm38) missense probably damaging 1.00
IGL02440:Plxna2 APN 1 194,746,150 (GRCm38) missense probably benign 0.10
IGL02545:Plxna2 APN 1 194,786,690 (GRCm38) unclassified probably benign
IGL02553:Plxna2 APN 1 194,751,438 (GRCm38) missense probably benign 0.08
IGL02882:Plxna2 APN 1 194,762,570 (GRCm38) missense probably damaging 1.00
IGL02946:Plxna2 APN 1 194,749,309 (GRCm38) splice site probably benign
IGL03062:Plxna2 APN 1 194,762,550 (GRCm38) missense possibly damaging 0.72
IGL03095:Plxna2 APN 1 194,801,127 (GRCm38) missense probably damaging 1.00
IGL03293:Plxna2 APN 1 194,804,945 (GRCm38) missense probably damaging 0.99
G1Funyon:Plxna2 UTSW 1 194,790,175 (GRCm38) missense probably benign 0.01
PIT4514001:Plxna2 UTSW 1 194,794,937 (GRCm38) missense probably benign 0.00
R0024:Plxna2 UTSW 1 194,643,995 (GRCm38) missense possibly damaging 0.57
R0040:Plxna2 UTSW 1 194,643,896 (GRCm38) missense probably benign 0.13
R0040:Plxna2 UTSW 1 194,643,896 (GRCm38) missense probably benign 0.13
R0063:Plxna2 UTSW 1 194,644,939 (GRCm38) missense probably benign 0.00
R0063:Plxna2 UTSW 1 194,644,939 (GRCm38) missense probably benign 0.00
R0217:Plxna2 UTSW 1 194,644,598 (GRCm38) missense probably damaging 1.00
R0316:Plxna2 UTSW 1 194,644,150 (GRCm38) missense probably damaging 1.00
R0440:Plxna2 UTSW 1 194,644,404 (GRCm38) nonsense probably null
R0505:Plxna2 UTSW 1 194,644,348 (GRCm38) missense possibly damaging 0.93
R0568:Plxna2 UTSW 1 194,751,386 (GRCm38) missense probably benign 0.00
R0669:Plxna2 UTSW 1 194,788,837 (GRCm38) missense probably damaging 0.99
R0674:Plxna2 UTSW 1 194,649,475 (GRCm38) missense probably benign 0.00
R0885:Plxna2 UTSW 1 194,644,556 (GRCm38) missense probably benign
R0898:Plxna2 UTSW 1 194,797,024 (GRCm38) missense probably damaging 1.00
R0940:Plxna2 UTSW 1 194,800,555 (GRCm38) missense probably benign 0.01
R1061:Plxna2 UTSW 1 194,644,093 (GRCm38) missense probably damaging 1.00
R1067:Plxna2 UTSW 1 194,780,510 (GRCm38) splice site probably null
R1222:Plxna2 UTSW 1 194,800,649 (GRCm38) missense probably damaging 1.00
R1345:Plxna2 UTSW 1 194,644,486 (GRCm38) missense probably damaging 1.00
R1363:Plxna2 UTSW 1 194,804,939 (GRCm38) nonsense probably null
R1432:Plxna2 UTSW 1 194,767,463 (GRCm38) missense probably benign 0.10
R1434:Plxna2 UTSW 1 194,751,540 (GRCm38) splice site probably benign
R1597:Plxna2 UTSW 1 194,749,306 (GRCm38) splice site probably benign
R1719:Plxna2 UTSW 1 194,644,370 (GRCm38) missense possibly damaging 0.93
R1778:Plxna2 UTSW 1 194,810,970 (GRCm38) missense probably benign 0.01
R1795:Plxna2 UTSW 1 194,806,303 (GRCm38) missense probably damaging 0.99
R1819:Plxna2 UTSW 1 194,790,186 (GRCm38) missense probably benign 0.03
R1926:Plxna2 UTSW 1 194,762,450 (GRCm38) missense probably benign 0.02
R1966:Plxna2 UTSW 1 194,644,700 (GRCm38) missense possibly damaging 0.91
R1987:Plxna2 UTSW 1 194,643,989 (GRCm38) missense probably damaging 1.00
R1988:Plxna2 UTSW 1 194,643,989 (GRCm38) missense probably damaging 1.00
R2034:Plxna2 UTSW 1 194,780,594 (GRCm38) missense probably benign 0.00
R2131:Plxna2 UTSW 1 194,644,750 (GRCm38) missense probably benign 0.01
R2171:Plxna2 UTSW 1 194,800,617 (GRCm38) missense probably damaging 1.00
R2217:Plxna2 UTSW 1 194,797,748 (GRCm38) missense probably damaging 1.00
R2311:Plxna2 UTSW 1 194,749,317 (GRCm38) missense probably damaging 1.00
R2340:Plxna2 UTSW 1 194,749,317 (GRCm38) missense probably damaging 1.00
R2342:Plxna2 UTSW 1 194,749,317 (GRCm38) missense probably damaging 1.00
R2423:Plxna2 UTSW 1 194,749,317 (GRCm38) missense probably damaging 1.00
R2424:Plxna2 UTSW 1 194,749,317 (GRCm38) missense probably damaging 1.00
R2425:Plxna2 UTSW 1 194,749,317 (GRCm38) missense probably damaging 1.00
R2842:Plxna2 UTSW 1 194,749,317 (GRCm38) missense probably damaging 1.00
R2971:Plxna2 UTSW 1 194,797,731 (GRCm38) missense probably damaging 1.00
R3236:Plxna2 UTSW 1 194,749,317 (GRCm38) missense probably damaging 1.00
R3731:Plxna2 UTSW 1 194,788,885 (GRCm38) missense probably benign 0.42
R3784:Plxna2 UTSW 1 194,644,617 (GRCm38) missense probably benign
R3787:Plxna2 UTSW 1 194,643,934 (GRCm38) missense probably benign 0.10
R3845:Plxna2 UTSW 1 194,793,790 (GRCm38) missense probably damaging 0.96
R3927:Plxna2 UTSW 1 194,746,157 (GRCm38) missense probably benign 0.02
R3930:Plxna2 UTSW 1 194,794,910 (GRCm38) missense probably benign 0.17
R3964:Plxna2 UTSW 1 194,749,317 (GRCm38) missense probably damaging 1.00
R3980:Plxna2 UTSW 1 194,749,317 (GRCm38) missense probably damaging 1.00
R4067:Plxna2 UTSW 1 194,749,317 (GRCm38) missense probably damaging 1.00
R4120:Plxna2 UTSW 1 194,780,627 (GRCm38) missense probably damaging 1.00
R4231:Plxna2 UTSW 1 194,644,454 (GRCm38) missense probably damaging 1.00
R4257:Plxna2 UTSW 1 194,644,775 (GRCm38) missense probably damaging 1.00
R4396:Plxna2 UTSW 1 194,749,317 (GRCm38) missense probably damaging 1.00
R4397:Plxna2 UTSW 1 194,749,317 (GRCm38) missense probably damaging 1.00
R4418:Plxna2 UTSW 1 194,749,317 (GRCm38) missense probably damaging 1.00
R4444:Plxna2 UTSW 1 194,749,317 (GRCm38) missense probably damaging 1.00
R4446:Plxna2 UTSW 1 194,749,317 (GRCm38) missense probably damaging 1.00
R4482:Plxna2 UTSW 1 194,749,317 (GRCm38) missense probably damaging 1.00
R4487:Plxna2 UTSW 1 194,749,317 (GRCm38) missense probably damaging 1.00
R4489:Plxna2 UTSW 1 194,749,317 (GRCm38) missense probably damaging 1.00
R4571:Plxna2 UTSW 1 194,810,988 (GRCm38) missense possibly damaging 0.91
R4622:Plxna2 UTSW 1 194,812,150 (GRCm38) missense probably benign
R4623:Plxna2 UTSW 1 194,812,150 (GRCm38) missense probably benign
R4684:Plxna2 UTSW 1 194,762,594 (GRCm38) missense probably benign 0.42
R4688:Plxna2 UTSW 1 194,644,445 (GRCm38) missense probably damaging 1.00
R4855:Plxna2 UTSW 1 194,797,732 (GRCm38) missense probably benign 0.39
R4876:Plxna2 UTSW 1 194,643,775 (GRCm38) missense probably benign 0.02
R5161:Plxna2 UTSW 1 194,751,404 (GRCm38) missense probably benign
R5207:Plxna2 UTSW 1 194,788,899 (GRCm38) missense probably benign 0.19
R5479:Plxna2 UTSW 1 194,793,873 (GRCm38) missense probably benign
R5931:Plxna2 UTSW 1 194,810,870 (GRCm38) missense probably damaging 1.00
R6026:Plxna2 UTSW 1 194,799,814 (GRCm38) missense probably damaging 1.00
R6029:Plxna2 UTSW 1 194,799,575 (GRCm38) missense probably damaging 1.00
R6029:Plxna2 UTSW 1 194,794,427 (GRCm38) missense probably benign 0.00
R6059:Plxna2 UTSW 1 194,810,971 (GRCm38) missense possibly damaging 0.79
R6238:Plxna2 UTSW 1 194,790,196 (GRCm38) missense probably benign 0.01
R6322:Plxna2 UTSW 1 194,754,367 (GRCm38) missense possibly damaging 0.89
R6668:Plxna2 UTSW 1 194,810,088 (GRCm38) missense possibly damaging 0.68
R6709:Plxna2 UTSW 1 194,789,766 (GRCm38) missense probably benign 0.01
R6748:Plxna2 UTSW 1 194,794,182 (GRCm38) splice site probably null
R6838:Plxna2 UTSW 1 194,804,914 (GRCm38) missense possibly damaging 0.90
R6844:Plxna2 UTSW 1 194,793,828 (GRCm38) missense probably benign 0.08
R7069:Plxna2 UTSW 1 194,793,904 (GRCm38) missense possibly damaging 0.51
R7122:Plxna2 UTSW 1 194,644,568 (GRCm38) nonsense probably null
R7145:Plxna2 UTSW 1 194,649,522 (GRCm38) missense probably benign 0.31
R7189:Plxna2 UTSW 1 194,801,058 (GRCm38) missense possibly damaging 0.58
R7207:Plxna2 UTSW 1 194,644,019 (GRCm38) missense probably damaging 1.00
R7232:Plxna2 UTSW 1 194,712,260 (GRCm38) missense probably damaging 1.00
R7234:Plxna2 UTSW 1 194,806,390 (GRCm38) missense probably damaging 0.96
R7246:Plxna2 UTSW 1 194,644,282 (GRCm38) missense possibly damaging 0.74
R7255:Plxna2 UTSW 1 194,752,103 (GRCm38) missense probably benign 0.03
R7283:Plxna2 UTSW 1 194,644,883 (GRCm38) missense probably damaging 0.99
R7288:Plxna2 UTSW 1 194,796,919 (GRCm38) missense probably damaging 1.00
R7361:Plxna2 UTSW 1 194,799,779 (GRCm38) missense probably damaging 1.00
R7424:Plxna2 UTSW 1 194,806,339 (GRCm38) missense probably damaging 0.98
R7501:Plxna2 UTSW 1 194,643,895 (GRCm38) missense possibly damaging 0.95
R7528:Plxna2 UTSW 1 194,812,156 (GRCm38) missense probably damaging 1.00
R7529:Plxna2 UTSW 1 194,643,871 (GRCm38) missense probably benign 0.25
R7532:Plxna2 UTSW 1 194,644,819 (GRCm38) missense probably benign 0.13
R7959:Plxna2 UTSW 1 194,810,962 (GRCm38) missense probably damaging 1.00
R7959:Plxna2 UTSW 1 194,793,864 (GRCm38) frame shift probably null
R7960:Plxna2 UTSW 1 194,793,864 (GRCm38) frame shift probably null
R8261:Plxna2 UTSW 1 194,749,416 (GRCm38) missense probably damaging 1.00
R8301:Plxna2 UTSW 1 194,790,175 (GRCm38) missense probably benign 0.01
R8463:Plxna2 UTSW 1 194,644,046 (GRCm38) missense probably damaging 1.00
R8519:Plxna2 UTSW 1 194,793,958 (GRCm38) missense probably damaging 1.00
R8836:Plxna2 UTSW 1 194,796,935 (GRCm38) missense possibly damaging 0.94
R9010:Plxna2 UTSW 1 194,788,909 (GRCm38) missense possibly damaging 0.95
R9034:Plxna2 UTSW 1 194,793,889 (GRCm38) missense probably damaging 1.00
R9254:Plxna2 UTSW 1 194,810,166 (GRCm38) missense probably damaging 1.00
R9274:Plxna2 UTSW 1 194,788,828 (GRCm38) missense probably damaging 1.00
R9379:Plxna2 UTSW 1 194,810,166 (GRCm38) missense probably damaging 1.00
R9385:Plxna2 UTSW 1 194,749,416 (GRCm38) missense possibly damaging 0.95
R9422:Plxna2 UTSW 1 194,644,422 (GRCm38) missense probably damaging 1.00
R9451:Plxna2 UTSW 1 194,644,384 (GRCm38) missense probably benign 0.05
R9484:Plxna2 UTSW 1 194,644,894 (GRCm38) missense probably damaging 1.00
X0027:Plxna2 UTSW 1 194,644,433 (GRCm38) missense probably damaging 1.00
Z1088:Plxna2 UTSW 1 194,764,539 (GRCm38) missense probably benign 0.06
Z1088:Plxna2 UTSW 1 194,644,441 (GRCm38) missense possibly damaging 0.56
Predicted Primers PCR Primer
(F):5'- GACATGTCAGTCTCTCCCAAC -3'
(R):5'- AAAATGCTGGACCTCCTCAGG -3'

Sequencing Primer
(F):5'- ATGTCAGTCTCTCCCAACTCCAC -3'
(R):5'- TGGCATTCCCATTGAGCTC -3'
Posted On 2015-03-25