Incidental Mutation 'IGL02511:Plxna3'
ID296552
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 essential (E-score: 0.541) question?
Stock #IGL02511
Quality Score
Status
ChromosomeX
Chromosomal Location74329066-74344689 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 74335385 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 712 (Q712K)
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: Q712K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000004326
Gene: ENSMUSG00000031398
AA Change: Q712K

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl A T 2: 93,861,766 probably benign Het
Adam3 T A 8: 24,695,176 D502V probably damaging Het
Adss T C 1: 177,771,134 probably benign Het
Ankrd36 T A 11: 5,660,845 probably null Het
Atf6b T C 17: 34,654,641 S692P probably benign Het
Cap2 T C 13: 46,531,022 M1T probably null Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cntn1 A T 15: 92,216,385 probably benign Het
Copg2 A T 6: 30,858,822 F218Y probably benign Het
Dll4 G A 2: 119,326,466 G73E probably damaging Het
Dzip3 T C 16: 48,936,980 M897V possibly damaging Het
Ehbp1 T C 11: 22,089,653 R816G probably damaging Het
Enoph1 T C 5: 100,061,035 L83P probably benign Het
Enpep A G 3: 129,321,410 S238P probably damaging Het
Fermt1 A C 2: 132,933,166 probably benign Het
Gm6619 T A 6: 131,490,367 I65K possibly damaging Het
Krtap31-2 T A 11: 99,936,692 C117S possibly damaging Het
Ksr1 T C 11: 79,045,220 D106G possibly damaging Het
Lgr4 A T 2: 110,011,272 Y534F probably benign Het
Mamdc2 T C 19: 23,378,731 T118A probably benign Het
Myo10 T A 15: 25,723,889 I170N probably damaging Het
Myom2 T C 8: 15,065,743 S53P probably benign Het
Npl T A 1: 153,515,481 D176V probably damaging Het
Nrm T C 17: 35,861,424 S14P probably damaging Het
Olfr1043 A G 2: 86,162,019 I310T probably benign Het
Olfr111 A G 17: 37,529,979 M1V probably null Het
Olfr495 T A 7: 108,396,058 F313I probably benign Het
Papola T A 12: 105,809,345 C204S probably damaging Het
Pard3 A T 8: 127,161,320 probably benign Het
Pdzd4 T A X: 73,794,600 M701L probably damaging Het
Pkhd1 A T 1: 20,073,507 V3865E possibly damaging Het
Pon1 A G 6: 5,193,724 L9P probably damaging Het
Pygm A T 19: 6,385,688 I83F probably benign Het
Scyl2 A G 10: 89,640,819 S815P probably benign Het
Serpina1a C T 12: 103,855,967 W212* probably null Het
Slc38a9 C A 13: 112,698,007 D239E possibly damaging Het
Smad6 A G 9: 63,953,577 F479L probably damaging Het
Smarcc2 T C 10: 128,461,382 S48P probably damaging Het
Ttn T A 2: 76,937,690 M3022L unknown Het
Tulp1 C A 17: 28,356,168 R441L probably benign Het
Ugt1a10 T C 1: 88,055,863 F128L probably damaging Het
Ulk4 A G 9: 121,188,354 V686A probably damaging Het
Ush2a T C 1: 188,743,687 probably null Het
Ushbp1 T C 8: 71,390,937 M286V probably null Het
Usp51 T G X: 153,008,730 I440R probably damaging Het
Wee1 G T 7: 110,139,276 R532L possibly damaging Het
Zfhx4 A G 3: 5,399,183 E1467G probably damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zfp551 A G 7: 12,416,675 V269A possibly damaging 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
IGL01694:Plxna3 APN X 74338508 missense probably damaging 1.00
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 On2015-04-16