Incidental Mutation 'IGL03129:Efna2'
ID 410259
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Efna2
Ensembl Gene ENSMUSG00000003070
Gene Name ephrin A2
Synonyms Ephrin-A2, LERK-6, ephrin A6, Epl6, Elf-1, Cek7-L
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03129
Quality Score
Status
Chromosome 10
Chromosomal Location 80015316-80025844 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 80024346 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000003154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003154] [ENSMUST00000003154]
AlphaFold P52801
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
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: 99,377,238 (GRCm39) V403A probably damaging Het
Adpgk T C 9: 59,221,088 (GRCm39) L298P probably damaging Het
Akap6 A T 12: 53,187,089 (GRCm39) D1501V probably damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Ankhd1 T A 18: 36,791,061 (GRCm39) Y2478* probably null Het
Col6a3 A G 1: 90,749,584 (GRCm39) Y417H probably damaging Het
Csmd1 A G 8: 16,011,521 (GRCm39) F2511L probably damaging Het
Dzip3 T C 16: 48,762,446 (GRCm39) M602V possibly damaging Het
Fzd8 T C 18: 9,214,270 (GRCm39) S451P probably damaging Het
Galntl6 A T 8: 58,880,750 (GRCm39) D134E probably damaging Het
Grid2 T C 6: 64,040,888 (GRCm39) S277P probably damaging Het
Lcn2 A G 2: 32,277,716 (GRCm39) V91A possibly damaging Het
Lrp1b G A 2: 41,202,478 (GRCm39) probably benign Het
Lrrc7 T A 3: 157,866,696 (GRCm39) Y1015F probably benign Het
Mdn1 T A 4: 32,729,994 (GRCm39) C2779S possibly damaging Het
Nlrp10 A T 7: 108,524,118 (GRCm39) F454Y probably damaging Het
Obox5 T A 7: 15,492,684 (GRCm39) L213Q probably damaging Het
Or1o2 T A 17: 37,543,087 (GRCm39) Y58F probably damaging Het
Piezo2 T C 18: 63,248,043 (GRCm39) M486V probably benign Het
Plcg1 A C 2: 160,616,446 (GRCm39) probably null Het
Polr1b G A 2: 128,957,627 (GRCm39) V561I probably benign Het
Polr3c A T 3: 96,626,770 (GRCm39) probably benign Het
Prkg1 T A 19: 30,562,681 (GRCm39) K523* probably null Het
Prss3l T C 6: 41,420,432 (GRCm39) N98S probably benign Het
Sema3b T A 9: 107,476,995 (GRCm39) probably benign Het
Sp9 A G 2: 73,103,865 (GRCm39) T140A probably benign Het
Zfp507 T C 7: 35,493,631 (GRCm39) R471G probably damaging Het
Other mutations in Efna2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02066:Efna2 APN 10 80,024,500 (GRCm39) splice site probably benign
R1926:Efna2 UTSW 10 80,022,710 (GRCm39) missense probably damaging 1.00
R1993:Efna2 UTSW 10 80,022,711 (GRCm39) missense possibly damaging 0.87
R4332:Efna2 UTSW 10 80,024,315 (GRCm39) missense probably damaging 1.00
R9058:Efna2 UTSW 10 80,022,720 (GRCm39) missense probably damaging 0.99
R9068:Efna2 UTSW 10 80,024,524 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02