Incidental Mutation 'R5931:Plxna2'
ID 461823
Institutional Source Beutler Lab
Gene Symbol Plxna2
Ensembl Gene ENSMUSG00000026640
Gene Name plexin A2
Synonyms 2810428A13Rik, OCT, PlexA2, Plxn2
MMRRC Submission 044126-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5931 (G1)
Quality Score 186
Status Not validated
Chromosome 1
Chromosomal Location 194618218-194816869 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 194810870 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 1818 (I1818F)
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: I1818F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027952
Gene: ENSMUSG00000026640
AA Change: I1818F

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik G A 2: 130,814,189 (GRCm38) T2M probably damaging Het
4930590J08Rik A T 6: 91,919,115 (GRCm38) R315W probably damaging Het
Atrn A T 2: 130,933,436 (GRCm38) Y153F possibly damaging Het
C4b A G 17: 34,729,193 (GRCm38) V1644A probably damaging Het
Carmil3 A C 14: 55,498,940 (GRCm38) K654T probably damaging Het
Cdh1 T C 8: 106,666,332 (GRCm38) probably null Het
Chrna1 C T 2: 73,568,100 (GRCm38) V332M probably benign Het
Clca2 A C 3: 145,092,125 (GRCm38) V193G possibly damaging Het
Cyld A G 8: 88,729,842 (GRCm38) probably null Het
Dbt A T 3: 116,523,425 (GRCm38) E83D possibly damaging Het
Deup1 T C 9: 15,561,322 (GRCm38) R471G possibly damaging Het
Dgcr2 T A 16: 17,857,309 (GRCm38) I188F possibly damaging Het
Dgkg G A 16: 22,558,038 (GRCm38) R524* probably null Het
Dnah5 A T 15: 28,453,279 (GRCm38) R4399W probably damaging Het
Egflam G A 15: 7,243,857 (GRCm38) T579I possibly damaging Het
Eif2b2 C T 12: 85,222,787 (GRCm38) T211I probably damaging Het
Ep400 A G 5: 110,735,520 (GRCm38) probably benign Het
Ermp1 C G 19: 29,615,729 (GRCm38) A788P probably benign Het
Ern1 A G 11: 106,426,873 (GRCm38) S142P possibly damaging Het
Fbxo15 T A 18: 84,981,125 (GRCm38) C351S probably damaging Het
Fndc3a A T 14: 72,568,867 (GRCm38) S444T probably benign Het
Gabra6 G A 11: 42,307,441 (GRCm38) T384M probably benign Het
Gm6169 A G 13: 97,099,197 (GRCm38) L14S probably benign Het
Gpbp1l1 T C 4: 116,590,260 (GRCm38) V379A probably benign Het
Hook2 G T 8: 84,995,746 (GRCm38) E305* probably null Het
Hoxa3 G A 6: 52,172,588 (GRCm38) A21V probably damaging Het
Hs1bp3 C A 12: 8,341,915 (GRCm38) P339Q probably benign Het
Igha T A 12: 113,260,090 (GRCm38) T49S probably benign Het
Klra4 C T 6: 130,053,053 (GRCm38) V190M possibly damaging Het
Lats2 A G 14: 57,696,131 (GRCm38) L843P probably damaging Het
Lcmt1 A G 7: 123,421,616 (GRCm38) T255A probably benign Het
Lpar6 A G 14: 73,238,928 (GRCm38) I110V probably damaging Het
Lrrtm4 A G 6: 80,021,739 (GRCm38) I44V probably damaging Het
Mcm3ap T C 10: 76,471,166 (GRCm38) V371A probably benign Het
Muc20 A T 16: 32,794,574 (GRCm38) D144E possibly damaging Het
Nphp3 T A 9: 104,020,746 (GRCm38) D417E probably damaging Het
Olfr853 A T 9: 19,537,333 (GRCm38) I199K probably benign Het
Olfr889 A G 9: 38,116,374 (GRCm38) I193V probably benign Het
Paqr7 A C 4: 134,507,720 (GRCm38) Y296S probably damaging Het
Pcdha4 A T 18: 36,954,755 (GRCm38) T664S probably damaging Het
Pelo T A 13: 115,088,843 (GRCm38) Y282F probably benign Het
Pnkd A G 1: 74,350,674 (GRCm38) D319G probably benign Het
Pnmal1 C A 7: 16,960,884 (GRCm38) N221K probably benign Het
Ppp1cb T A 5: 32,483,466 (GRCm38) probably null Het
Prkca T G 11: 108,014,310 (GRCm38) I201L probably benign Het
Rfx2 G A 17: 56,780,778 (GRCm38) R538C probably damaging Het
Rph3a T C 5: 120,963,873 (GRCm38) Q100R probably damaging Het
Rtel1 C T 2: 181,330,815 (GRCm38) R29* probably null Het
Scel T A 14: 103,605,624 (GRCm38) Y547* probably null Het
Sp100 C T 1: 85,679,083 (GRCm38) P303L probably damaging Het
Stk31 A G 6: 49,469,302 (GRCm38) S958G probably benign Het
Syne2 T A 12: 76,008,865 (GRCm38) V4168E probably benign Het
Tenm3 A T 8: 48,646,498 (GRCm38) S91T probably benign Het
Tmcc2 TTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGC 1: 132,357,755 (GRCm38) probably benign Het
Tmem248 T A 5: 130,229,508 (GRCm38) I14N probably damaging Het
Tor3a T C 1: 156,656,487 (GRCm38) I298V probably benign Het
Trim69 A T 2: 122,178,594 (GRCm38) K378N probably damaging Het
Ttc28 C T 5: 111,085,109 (GRCm38) P151S possibly damaging Het
Uaca T C 9: 60,872,012 (GRCm38) V1225A probably damaging Het
Vps4b T C 1: 106,777,335 (GRCm38) I343V probably benign Het
Wnk4 A G 11: 101,261,221 (GRCm38) T184A probably damaging Het
Ythdc2 T A 18: 44,872,956 (GRCm38) I1172K possibly 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
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'- GTCTTAGCTGACTGGAGTGTCC -3'
(R):5'- ATCAAGTTGCAGGTTGGTCTCAG -3'

Sequencing Primer
(F):5'- GTGTCCTTCAGAAATTTGGACTGCAC -3'
(R):5'- CAGGTTGGTCTCAGCCCTTG -3'
Posted On 2017-02-28