Incidental Mutation 'R7959:Plxna2'
ID 649987
Institutional Source Beutler Lab
Gene Symbol Plxna2
Ensembl Gene ENSMUSG00000026640
Gene Name plexin A2
Synonyms 2810428A13Rik, OCT, PlexA2, Plxn2
MMRRC Submission 046003-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7959 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 194618218-194816869 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 194810962 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 1848 (S1848R)
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: S1848R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027952
Gene: ENSMUSG00000026640
AA Change: S1848R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 9,010,649 (GRCm38) V3099A possibly damaging Het
Apba2 A G 7: 64,695,823 (GRCm38) M254V probably benign Het
Bbs7 C T 3: 36,602,936 (GRCm38) D248N probably damaging Het
Ccdc168 T C 1: 44,057,568 (GRCm38) I1457V probably benign Het
Cldn8 A G 16: 88,562,941 (GRCm38) V32A probably damaging Het
Col4a4 G T 1: 82,507,059 (GRCm38) P496T unknown Het
Cyp27a1 T A 1: 74,737,077 (GRCm38) N417K probably benign Het
Dnah7a T C 1: 53,643,462 (GRCm38) D283G probably benign Het
Elp1 A T 4: 56,774,737 (GRCm38) M746K probably damaging Het
Fmn1 T A 2: 113,365,622 (GRCm38) Y556N unknown Het
Fsip2 T C 2: 82,985,776 (GRCm38) I3951T possibly damaging Het
Gigyf1 C T 5: 137,524,319 (GRCm38) T773I probably damaging Het
Gm11639 A G 11: 105,042,801 (GRCm38) K4878E probably damaging Het
Heatr6 A T 11: 83,781,363 (GRCm38) K1066* probably null Het
Mdfic T C 6: 15,741,071 (GRCm38) S142P possibly damaging Het
Mettl16 A G 11: 74,817,026 (GRCm38) I389V probably benign Het
Mia3 T C 1: 183,344,339 (GRCm38) Y57C probably damaging Het
Nrp2 C T 1: 62,745,408 (GRCm38) R239C probably damaging Het
Nup160 T C 2: 90,713,895 (GRCm38) probably null Het
Or1e1 T C 11: 73,353,918 (GRCm38) L55P probably damaging Het
Or2n1e A G 17: 38,275,711 (GRCm38) *313W probably null Het
Or52a24 T A 7: 103,732,808 (GRCm38) V294D probably damaging Het
Or8b1b T A 9: 38,464,915 (GRCm38) S291R probably damaging Het
Or9s13 T A 1: 92,620,307 (GRCm38) C134S probably damaging Het
Pierce1 A T 2: 28,462,357 (GRCm38) N131K probably damaging Het
Plcxd1 A T 5: 110,103,556 (GRCm38) I333F probably damaging Het
Pnpla2 T A 7: 141,457,493 (GRCm38) D136E probably benign Het
Polr1b T A 2: 129,108,094 (GRCm38) F245I probably damaging Het
Prmt9 T A 8: 77,560,965 (GRCm38) I245N probably damaging Het
Serhl A T 15: 83,101,872 (GRCm38) D62V probably damaging Het
Sh3rf3 A T 10: 59,007,103 (GRCm38) D297V probably damaging Het
Spata13 C T 14: 60,756,230 (GRCm38) R1044* probably null Het
Strbp G A 2: 37,640,894 (GRCm38) T116I probably benign Het
Supt5 T C 7: 28,315,799 (GRCm38) D977G probably benign Het
Tmem184c A G 8: 77,602,903 (GRCm38) V176A possibly damaging Het
Uhrf2 A G 19: 30,086,260 (GRCm38) N541S probably damaging Het
Vmn2r24 T A 6: 123,778,990 (GRCm38) F7Y possibly damaging Het
Vmn2r27 T C 6: 124,192,081 (GRCm38) R697G probably benign Het
Zfp994 A G 17: 22,202,780 (GRCm38) V18A probably damaging 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
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 1 194,793,864 (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'- TTCTCCCAAGGTACCTGGAC -3'
(R):5'- TGACTGGATCTGCCCAAGTG -3'

Sequencing Primer
(F):5'- ACCAGGGTGGGTATTGGTGAATG -3'
(R):5'- CTGGATCTGCCCAAGTGTAAACTG -3'
Posted On 2020-09-15