Incidental Mutation 'IGL01694:Plxna3'
ID104199
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plxna3
Ensembl Gene ENSMUSG00000031398
Gene Nameplexin A3
SynonymsPlexA3, Plxa3, Plxn4, SEX, Plxn3
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.290) question?
Stock #IGL01694
Quality Score
Status
ChromosomeX
Chromosomal Location74329066-74344689 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 74338508 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1291 (D1291E)
Ref Sequence ENSEMBL: ENSMUSP00000004326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004326]
PDB Structure
Crystal strucure of mouse Plexin A3 intracellular domain [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000004326
AA Change: D1291E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004326
Gene: ENSMUSG00000031398
AA Change: D1291E

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: ENSMUST00000137484
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142236
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148726
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152317
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik A G 14: 36,096,702 *219W probably null Het
Abi1 G A 2: 22,960,713 T238M probably damaging Het
Agbl2 C T 2: 90,801,074 L259F probably damaging Het
Cacna1g T A 11: 94,429,112 I1413F probably damaging Het
Ddx21 T A 10: 62,598,651 K110* probably null Het
Dnm1l A T 16: 16,316,651 I463N probably benign Het
Dst C A 1: 34,188,160 H1286Q probably benign Het
Elmo2 A T 2: 165,314,773 N67K probably benign Het
Eps8l3 G A 3: 107,892,308 C578Y probably damaging Het
Fam83b T A 9: 76,490,990 I944F probably benign Het
Itga10 A T 3: 96,652,517 D496V probably damaging Het
Lama2 T G 10: 27,006,742 K2608N possibly damaging Het
Lap3 T A 5: 45,498,595 probably null Het
Madd T C 2: 91,157,975 probably benign Het
Mdh1b T A 1: 63,711,106 probably benign Het
Ncapg2 G A 12: 116,407,230 probably benign Het
Olfr1509 A G 14: 52,450,584 N57S probably benign Het
Opalin A G 19: 41,063,800 probably benign Het
Prss40 T A 1: 34,556,097 I101F probably benign Het
Rpl5 T C 5: 107,907,240 Y253H probably benign Het
Sephs2 A G 7: 127,273,087 I278T probably benign Het
Slc25a34 G A 4: 141,622,253 A197V probably benign Het
Slco6d1 C T 1: 98,499,845 R634W probably damaging Het
Smarca4 C A 9: 21,665,870 A871D probably damaging Het
Speer2 C T 16: 69,858,112 S155N probably damaging Het
Speer2 T A 16: 69,858,113 S155C probably damaging Het
Spink12 T A 18: 44,107,760 V71E probably damaging Het
Tecta T C 9: 42,367,179 D1011G possibly damaging Het
Tmtc4 G A 14: 122,973,212 T78I possibly damaging Het
Tub T C 7: 109,021,036 probably benign Het
Vps13c T A 9: 67,895,349 V644D probably damaging Het
Zfp7 C T 15: 76,890,795 Q346* probably null Het
Other mutations in Plxna3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Plxna3 APN X 74335794 missense probably damaging 1.00
IGL01509:Plxna3 APN X 74332433 missense probably benign 0.00
IGL01511:Plxna3 APN X 74335308 missense probably damaging 0.98
IGL02511:Plxna3 APN X 74335385 missense probably damaging 0.99
R1544:Plxna3 UTSW X 74340166 splice site probably null
R2872:Plxna3 UTSW X 74339396 splice site probably benign
R2874:Plxna3 UTSW X 74339396 splice site probably benign
R4672:Plxna3 UTSW X 74338948 critical splice donor site probably null
R4673:Plxna3 UTSW X 74338948 critical splice donor site probably null
Posted On2014-01-21