Incidental Mutation 'IGL01511:Plxna3'
ID 89222
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plxna3
Ensembl Gene ENSMUSG00000031398
Gene Name plexin A3
Synonyms PlexA3, Plxa3, Plxn4, SEX, Plxn3
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.354) question?
Stock # IGL01511
Quality Score
Status
Chromosome X
Chromosomal Location 74329066-74344689 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74335308 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 686 (E686G)
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 damaging
Transcript: ENSMUST00000004326
AA Change: E686G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000004326
Gene: ENSMUSG00000031398
AA Change: E686G

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: 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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,244,310 D216E probably benign Het
Abcc4 C A 14: 118,599,341 L669F probably benign Het
Adam29 C T 8: 55,871,421 G666D probably damaging Het
Adat2 T G 10: 13,560,238 M109R probably null Het
Atf3 T A 1: 191,171,496 T178S probably benign Het
Birc6 T A 17: 74,627,003 Y2522* probably null Het
Ccr8 G A 9: 120,094,625 G269R probably damaging Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Chrna4 C T 2: 181,028,668 V432I probably benign Het
Commd8 A G 5: 72,165,379 V65A probably benign Het
Cyp2j13 A G 4: 96,077,315 F52L possibly damaging Het
Desi1 T A 15: 82,002,588 K45* probably null Het
Dmbt1 T A 7: 131,116,728 M1552K possibly damaging Het
Dna2 G A 10: 62,955,314 M197I possibly damaging Het
Dnah7a A C 1: 53,419,595 L3795V probably damaging Het
Fam221b T C 4: 43,660,135 probably null Het
Fbxw18 A T 9: 109,688,821 S366T possibly damaging Het
Fzd8 A G 18: 9,213,293 Y125C unknown Het
Gcsam T C 16: 45,615,952 Y11H probably damaging Het
Gucy2f G T X: 142,161,734 D410E probably damaging Het
Hdac3 C T 18: 37,952,595 A53T probably benign Het
Lamp2 A G X: 38,431,875 L244P probably damaging Het
Lrrk1 A T 7: 66,265,450 F1630Y possibly damaging Het
M1ap C A 6: 83,028,412 D434E probably benign Het
Mcmbp A G 7: 128,707,164 Y378H probably damaging Het
Mvb12a T A 8: 71,545,302 V120E probably damaging Het
Nbeal2 A C 9: 110,629,234 W2063G probably damaging Het
Neto1 A C 18: 86,395,908 H9P possibly damaging Het
Nmu C T 5: 76,340,821 V126M probably damaging Het
Odf2 T C 2: 29,914,309 probably benign Het
Olfr1387 A G 11: 49,460,216 E179G probably damaging Het
Pdzrn3 T C 6: 101,153,256 H533R possibly damaging Het
Pikfyve G T 1: 65,258,869 E1586* probably null Het
Plcb3 C A 19: 6,955,843 R970L probably damaging Het
Polrmt T A 10: 79,740,151 Y586F probably benign Het
Ppt1 T A 4: 122,854,425 F225I probably damaging Het
Prcc T G 3: 87,872,241 D162A probably damaging Het
Ripor1 T C 8: 105,619,930 probably benign Het
Rnaseh1 A G 12: 28,659,009 H263R probably damaging Het
Rnf19b T A 4: 129,080,418 S490R probably damaging Het
Slc15a2 T A 16: 36,784,726 T23S probably damaging Het
Slc17a2 T C 13: 23,819,138 probably null Het
Slc35f4 T C 14: 49,298,877 M434V probably benign Het
Slc52a3 C T 2: 152,004,644 T175I probably benign Het
Slc5a2 C T 7: 128,270,622 T409M probably benign Het
Tbc1d24 A G 17: 24,181,918 S108P probably benign Het
Thnsl2 T G 6: 71,139,793 Q125P probably benign Het
Ttc13 T C 8: 124,676,371 D672G probably damaging Het
Ttn G T 2: 76,753,745 H14013N possibly damaging Het
Unc5a T C 13: 55,004,816 F792L probably damaging Het
Vac14 T C 8: 110,712,798 V669A possibly damaging Het
Vmn1r13 A T 6: 57,210,329 M158L probably benign Het
Vmn1r220 A T 13: 23,184,214 V104D probably damaging Het
Wdr78 T C 4: 103,048,361 D741G possibly damaging Het
Zfp738 A T 13: 67,683,401 probably null Het
Zscan5b A C 7: 6,231,422 H149P probably benign 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
IGL01694:Plxna3 APN X 74338508 missense probably damaging 1.00
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
Z1176:Plxna3 UTSW X 74336020 missense probably damaging 1.00
Posted On 2013-12-03