Incidental Mutation 'IGL01509:Plxna3'
ID 89150
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plxna3
Ensembl Gene ENSMUSG00000031398
Gene Name plexin A3
Synonyms PlexA3, Plxa3, Plxn4, Plxn3, SEX
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.337) question?
Stock # IGL01509
Quality Score
Status
Chromosome X
Chromosomal Location 73372672-73388295 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73376039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 355 (Q355R)
Ref Sequence ENSEMBL: ENSMUSP00000004326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004326]
AlphaFold P70208
PDB Structure Crystal strucure of mouse Plexin A3 intracellular domain [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000004326
AA Change: Q355R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000004326
Gene: ENSMUSG00000031398
AA Change: Q355R

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Sema 34 473 1.81e-129 SMART
PSI 491 541 2.26e-11 SMART
PSI 638 685 3.62e-10 SMART
PSI 786 839 4.03e-8 SMART
IPT 840 934 8.07e-23 SMART
IPT 935 1021 2.99e-17 SMART
IPT 1023 1123 4.19e-21 SMART
IPT 1125 1220 1.49e-3 SMART
transmembrane domain 1221 1243 N/A INTRINSIC
Pfam:Plexin_cytopl 1294 1842 2.8e-253 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136114
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142236
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152376
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154062
Coding Region Coverage
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 class of proteins. The encoded protein is a class 3 semaphorin receptor, and may be involved in cytoskeletal remodeling and as well as apoptosis. Studies of a similar gene in zebrafish suggest that it is important for axon pathfinding in the developing nervous system. This gene may be associated with tumor progression. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene possess misdirected axons in the hippocampus. They are, otherwise, indistinguishable from wild-type mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt T A 9: 99,495,819 (GRCm39) I85N probably benign Het
Bbof1 T A 12: 84,457,859 (GRCm39) N41K possibly damaging Het
Cdh10 A G 15: 18,986,884 (GRCm39) K372E possibly damaging Het
Clmn T A 12: 104,747,162 (GRCm39) Q795L probably benign Het
Dnai4 G A 4: 102,929,884 (GRCm39) P369L possibly damaging Het
Enox1 T C 14: 77,936,713 (GRCm39) S583P probably damaging Het
Hmcn1 C T 1: 150,485,382 (GRCm39) G4407S probably damaging Het
Ifi206 T A 1: 173,313,142 (GRCm39) M109L probably benign Het
Ighmbp2 A G 19: 3,318,711 (GRCm39) M455T possibly damaging Het
Inpp4b T C 8: 82,617,332 (GRCm39) probably benign Het
Mctp2 A G 7: 71,909,017 (GRCm39) S99P probably benign Het
Mrgprb2 G A 7: 48,202,674 (GRCm39) T17M possibly damaging Het
Ogdhl T A 14: 32,059,716 (GRCm39) M410K probably damaging Het
Pard3b A T 1: 62,200,407 (GRCm39) R315S possibly damaging Het
Pde3b A G 7: 114,117,645 (GRCm39) Q625R probably benign Het
Ptprm A T 17: 67,069,208 (GRCm39) F907I possibly damaging Het
Slc16a4 A C 3: 107,218,750 (GRCm39) probably null Het
Tasor T C 14: 27,181,731 (GRCm39) probably benign Het
Vmn1r82 A T 7: 12,039,096 (GRCm39) H123L probably damaging Het
Vmn2r1 T C 3: 64,010,466 (GRCm39) I568T probably benign Het
Zfp7 G A 15: 76,765,333 (GRCm39) V9M probably damaging Het
Zfp759 A G 13: 67,287,658 (GRCm39) N403S probably benign Het
Other mutations in Plxna3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Plxna3 APN X 73,379,400 (GRCm39) missense probably damaging 1.00
IGL01511:Plxna3 APN X 73,378,914 (GRCm39) missense probably damaging 0.98
IGL01694:Plxna3 APN X 73,382,114 (GRCm39) missense probably damaging 1.00
IGL02511:Plxna3 APN X 73,378,991 (GRCm39) missense probably damaging 0.99
R1544:Plxna3 UTSW X 73,383,772 (GRCm39) splice site probably null
R2872:Plxna3 UTSW X 73,383,002 (GRCm39) splice site probably benign
R2874:Plxna3 UTSW X 73,383,002 (GRCm39) splice site probably benign
R4672:Plxna3 UTSW X 73,382,554 (GRCm39) critical splice donor site probably null
R4673:Plxna3 UTSW X 73,382,554 (GRCm39) critical splice donor site probably null
Z1176:Plxna3 UTSW X 73,379,626 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-03