Incidental Mutation 'R7288:Plxna2'
ID 566134
Institutional Source Beutler Lab
Gene Symbol Plxna2
Ensembl Gene ENSMUSG00000026640
Gene Name plexin A2
Synonyms 2810428A13Rik, OCT, PlexA2, Plxn2
MMRRC Submission 045395-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7288 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 194618218-194816869 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 194796919 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 1296 (L1296H)
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: L1296H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027952
Gene: ENSMUSG00000026640
AA Change: L1296H

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: 99.2%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T A 11: 58,880,305 D204E probably benign Het
Adh1 T G 3: 138,282,732 D155E probably benign Het
Akt1s1 T C 7: 44,849,147 L2P unknown Het
Ash1l T A 3: 88,965,892 probably benign Het
Bend7 C T 2: 4,752,830 P228S probably damaging Het
Bpifc T C 10: 85,988,721 E218G possibly damaging Het
Cdk6 T A 5: 3,429,001 F127Y probably benign Het
Cgnl1 A T 9: 71,725,564 H168Q possibly damaging Het
Chd7 C T 4: 8,847,093 T1612I possibly damaging Het
Col4a4 A T 1: 82,492,463 C782S unknown Het
Copg2 T A 6: 30,824,406 I364L probably damaging Het
Crygb A G 1: 65,081,925 L81P probably benign Het
Cyp4f18 A T 8: 71,993,173 M326K probably damaging Het
Dhx34 A G 7: 16,215,436 S356P probably benign Het
Dmbt1 C T 7: 131,083,789 Q855* probably null Het
Dnph1 A G 17: 46,499,012 N160S probably benign Het
Esrra A T 19: 6,912,771 C228* probably null Het
Evpl T C 11: 116,223,949 N972D probably benign Het
Fat3 T C 9: 15,998,592 D2038G probably damaging Het
Fhit T A 14: 9,763,784 R102W probably damaging Het
Gal3st1 T A 11: 3,998,651 V286D probably damaging Het
Gal3st1 A T 11: 3,998,609 D272V probably damaging Het
Gemin4 A T 11: 76,213,380 M185K possibly damaging Het
Hecw1 T C 13: 14,316,236 I311V probably benign Het
Ift172 T C 5: 31,285,286 Y179C probably damaging Het
Ighv7-3 C T 12: 114,153,343 W66* probably null Het
Iqgap3 T A 3: 88,108,835 I975N probably damaging Het
Khdrbs3 A G 15: 69,049,413 E281G possibly damaging Het
Lamb2 A T 9: 108,488,324 T1369S probably benign Het
Mettl8 A T 2: 70,982,038 D84E probably benign Het
Mrgprb3 C A 7: 48,643,311 C164F probably damaging Het
Mtg2 A G 2: 180,083,387 Y131C probably damaging Het
Nacc1 C T 8: 84,676,545 A234T probably benign Het
Nsmaf C T 4: 6,416,641 V551I probably benign Het
Olfr541 T A 7: 140,705,029 C259* probably null Het
Olfr869 T A 9: 20,137,441 Y108* probably null Het
Oxr1 C T 15: 41,813,608 P187L not run Het
Pcdhb12 T A 18: 37,436,015 D71E probably benign Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,499,669 probably null Het
Pkm A G 9: 59,668,913 S127G probably benign Het
Ppil6 C G 10: 41,498,528 T135R probably benign Het
Ppp2r3a T C 9: 101,127,004 Y378C probably damaging Het
Rabep2 C T 7: 126,444,205 R426C probably damaging Het
Rad21 A T 15: 51,982,580 H31Q possibly damaging Het
Rad50 G T 11: 53,654,949 Y1182* probably null Het
Serpinb9c C T 13: 33,151,900 A218T possibly damaging Het
Slc17a2 C A 13: 23,819,112 H248Q probably benign Het
Slc45a4 C A 15: 73,586,936 E255* probably null Het
Slc8a3 T A 12: 81,216,824 K596N possibly damaging Het
Tbc1d32 A C 10: 56,051,387 probably null Het
Tbl2 T A 5: 135,154,399 I112N possibly damaging Het
Tchp A C 5: 114,715,569 K238T probably damaging Het
Tfap2d G A 1: 19,118,983 G251D probably damaging Het
Thrb T A 14: 18,030,186 M324K probably damaging Het
Tmem259 A T 10: 79,978,466 L328Q probably damaging Het
Tmtc2 T C 10: 105,413,608 H88R probably damaging Het
Tnfrsf21 A G 17: 43,037,818 H107R possibly damaging Het
Trib1 T C 15: 59,654,622 V347A probably benign Het
Ung T A 5: 114,131,254 L9* probably null Het
Vmn1r195 G T 13: 22,279,004 V215F probably damaging Het
Wdr63 T C 3: 146,081,252 T343A probably damaging Het
Wdr90 A G 17: 25,846,312 S1657P probably benign Het
Wdsub1 A T 2: 59,878,143 Y129N possibly damaging Het
Zfp369 T G 13: 65,285,018 probably null Het
Zfp770 G T 2: 114,195,661 C642* probably null Het
Zfp981 C T 4: 146,537,643 R342C probably benign Het
Zhx3 A C 2: 160,781,122 V375G 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
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'- CCACTTCTAATAGCTTCAAGTTGG -3'
(R):5'- TCTGGACTTCCTGGGAATCC -3'

Sequencing Primer
(F):5'- GTCCTATAGTAAACAACCTATGGCAG -3'
(R):5'- TGGGAATCCCTGGCCTACATC -3'
Posted On 2019-06-26