Incidental Mutation 'R1222:Plxna2'
ID 152734
Institutional Source Beutler Lab
Gene Symbol Plxna2
Ensembl Gene ENSMUSG00000026640
Gene Name plexin A2
Synonyms 2810428A13Rik, OCT, PlexA2, Plxn2
MMRRC Submission 039291-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1222 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 194618218-194816869 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 194800649 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1550 (D1550G)
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: D1550G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027952
Gene: ENSMUSG00000026640
AA Change: D1550G

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 0.8567 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 96% (54/56)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,145,064 (GRCm38) probably benign Het
Abl1 T C 2: 31,800,994 (GRCm38) S842P probably benign Het
Agrn C A 4: 156,177,385 (GRCm38) V483L probably damaging Het
Ankrd13a T A 5: 114,800,763 (GRCm38) C365* probably null Het
Ap2b1 T C 11: 83,346,738 (GRCm38) S543P probably benign Het
Atic C T 1: 71,559,279 (GRCm38) T67I probably damaging Het
Car9 G T 4: 43,512,439 (GRCm38) probably null Het
Cux1 C T 5: 136,275,149 (GRCm38) R1391Q probably benign Het
Cyp2a4 T C 7: 26,308,588 (GRCm38) V140A possibly damaging Het
Dlgap3 A T 4: 127,194,613 (GRCm38) M1L probably null Het
Dnah3 T C 7: 120,090,676 (GRCm38) D2G probably benign Het
Erbb3 A C 10: 128,571,665 (GRCm38) V938G probably damaging Het
Fam13a C T 6: 58,935,722 (GRCm38) probably benign Het
Gata2 G A 6: 88,200,341 (GRCm38) V118I probably benign Het
Gm2663 T C 6: 40,996,041 (GRCm38) I211V probably benign Het
Gm5096 A G 18: 87,757,334 (GRCm38) K327R probably damaging Het
Gm8298 T A 3: 59,877,261 (GRCm38) L385* probably null Het
Izumo3 T A 4: 92,145,047 (GRCm38) N104I probably damaging Het
Kifc1 G A 17: 33,884,711 (GRCm38) R195C probably benign Het
Mctp2 T A 7: 72,259,139 (GRCm38) H142L probably benign Het
Mmp10 T C 9: 7,505,681 (GRCm38) probably benign Het
Mroh8 G A 2: 157,241,854 (GRCm38) probably benign Het
Mylk T C 16: 34,860,652 (GRCm38) V94A probably benign Het
Nol6 A T 4: 41,120,760 (GRCm38) N396K probably benign Het
Nr4a2 A T 2: 57,108,324 (GRCm38) N543K probably damaging Het
Nynrin T C 14: 55,863,541 (GRCm38) S263P probably benign Het
Olfr1115 G T 2: 87,252,422 (GRCm38) G162C probably benign Het
Olfr395 A T 11: 73,907,414 (GRCm38) L26H probably damaging Het
Olfr493 T A 7: 108,346,106 (GRCm38) I292F probably damaging Het
Olfr77 G A 9: 19,921,048 (GRCm38) V280I possibly damaging Het
Pkhd1 T A 1: 20,567,456 (GRCm38) R368S probably benign Het
Plekhg4 G A 8: 105,379,110 (GRCm38) A736T probably benign Het
Qrfpr C A 3: 36,180,095 (GRCm38) G366W probably damaging Het
Qser1 C A 2: 104,777,431 (GRCm38) A1471S probably damaging Het
Rars A T 11: 35,809,740 (GRCm38) Y505N probably damaging Het
Reln T A 5: 21,986,955 (GRCm38) T1496S probably null Het
Rrs1 T C 1: 9,545,855 (GRCm38) L111P probably benign Het
Selplg C T 5: 113,819,373 (GRCm38) V291M possibly damaging Het
Serpinb1c T A 13: 32,896,951 (GRCm38) T50S possibly damaging Het
Slc4a5 A G 6: 83,280,132 (GRCm38) K640E probably damaging Het
Szt2 A T 4: 118,405,459 (GRCm38) H40Q possibly damaging Het
Taar4 C T 10: 23,961,332 (GRCm38) T280I probably benign Het
Tdo2 A G 3: 81,961,468 (GRCm38) probably null Het
Tpp1 T C 7: 105,746,741 (GRCm38) N527S probably benign Het
Trim43c A T 9: 88,843,078 (GRCm38) T218S possibly damaging Het
Trim45 G T 3: 100,927,298 (GRCm38) M432I probably benign Het
Ubr4 T C 4: 139,388,471 (GRCm38) probably null Het
Vat1l T C 8: 114,282,361 (GRCm38) probably benign Het
Xpo7 A T 14: 70,667,084 (GRCm38) H1037Q possibly damaging Het
Zmiz1 T C 14: 25,658,096 (GRCm38) 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
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
R3783:Plxna2 UTSW 1 194,807,521 (GRCm38) missense probably damaging 1.00
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'- CAGATCCTGAACTGTGTCAACCCTG -3'
(R):5'- GGTGGTAATGTCTTCGTCCTGCAAC -3'

Sequencing Primer
(F):5'- TGTGTCAACCCTGACAATGAG -3'
(R):5'- ATGTGGAAGAGCCTCATATCTG -3'
Posted On 2014-01-29