Incidental Mutation 'IGL03129:Efna2'
ID410259
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Efna2
Ensembl Gene ENSMUSG00000003070
Gene Nameephrin A2
Synonymsephrin A6, LERK-6, Elf-1, Ephrin-A2, Epl6, Cek7-L
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03129
Quality Score
Status
Chromosome10
Chromosomal Location80179482-80190010 bp(+) (GRCm38)
Type of Mutationsplice site (5 bp from exon)
DNA Base Change (assembly) G to A at 80188512 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000003154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003154]
Predicted Effect probably null
Transcript: ENSMUST00000003154
SMART Domains Protein: ENSMUSP00000003154
Gene: ENSMUSG00000003070

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Ephrin 30 166 1.6e-38 PFAM
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 ephrin family. The protein is composed of a signal sequence, a receptor-binding region, a spacer region, and a hydrophobic region. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. Posttranslational modifications determine whether this protein localizes to the nucleus or the cytoplasm. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozgous null mice exhibit increased neural progenitor cell proliferation and abnormalities in sensory projections to the superior colliculus [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,379 V403A probably damaging Het
Adpgk T C 9: 59,313,805 L298P probably damaging Het
Akap6 A T 12: 53,140,306 D1501V probably damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Ankhd1 T A 18: 36,658,008 Y2478* probably null Het
Col6a3 A G 1: 90,821,862 Y417H probably damaging Het
Csmd1 A G 8: 15,961,521 F2511L probably damaging Het
Dzip3 T C 16: 48,942,083 M602V possibly damaging Het
Fzd8 T C 18: 9,214,270 S451P probably damaging Het
Galntl6 A T 8: 58,427,716 D134E probably damaging Het
Gm10334 T C 6: 41,443,498 N98S probably benign Het
Grid2 T C 6: 64,063,904 S277P probably damaging Het
Lcn2 A G 2: 32,387,704 V91A possibly damaging Het
Lrp1b G A 2: 41,312,466 probably benign Het
Lrrc7 T A 3: 158,161,059 Y1015F probably benign Het
Mdn1 T A 4: 32,729,994 C2779S possibly damaging Het
Nlrp10 A T 7: 108,924,911 F454Y probably damaging Het
Obox5 T A 7: 15,758,759 L213Q probably damaging Het
Olfr97 T A 17: 37,232,196 Y58F probably damaging Het
Piezo2 T C 18: 63,114,972 M486V probably benign Het
Plcg1 A C 2: 160,774,526 probably null Het
Polr1b G A 2: 129,115,707 V561I probably benign Het
Polr3c A T 3: 96,719,454 probably benign Het
Prkg1 T A 19: 30,585,281 K523* probably null Het
Sema3b T A 9: 107,599,796 probably benign Het
Sp9 A G 2: 73,273,521 T140A probably benign Het
Zfp507 T C 7: 35,794,206 R471G probably damaging Het
Other mutations in Efna2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02066:Efna2 APN 10 80188666 splice site probably benign
R1926:Efna2 UTSW 10 80186876 missense probably damaging 1.00
R1993:Efna2 UTSW 10 80186877 missense possibly damaging 0.87
R4332:Efna2 UTSW 10 80188481 missense probably damaging 1.00
Posted On2016-08-02