Incidental Mutation 'IGL02556:Efna5'
ID 298499
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Efna5
Ensembl Gene ENSMUSG00000048915
Gene Name ephrin A5
Synonyms AL-1, RAGS, Ephrin-A5, Epl7, EFL-5, LERK-7
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02556
Quality Score
Status
Chromosome 17
Chromosomal Location 62911179-63188312 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 62958023 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 78 (V78F)
Ref Sequence ENSEMBL: ENSMUSP00000077883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076840] [ENSMUST00000078839]
AlphaFold O08543
Predicted Effect probably damaging
Transcript: ENSMUST00000076840
AA Change: V78F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000076115
Gene: ENSMUSG00000048915
AA Change: V78F

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Ephrin 29 158 4.5e-42 PFAM
low complexity region 214 228 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000078839
AA Change: V78F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000077883
Gene: ENSMUSG00000048915
AA Change: V78F

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Ephrin 26 164 2.4e-58 PFAM
low complexity region 187 201 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ephrin-A5, a member of the ephrin gene family, prevents axon bundling in cocultures of cortical neurons with astrocytes, a model of late stage nervous system development and differentiation. 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. EPH receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). 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. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit abnormalities in establishing correct axonal connections involving the retinal, motor, vomeronasal, and tactile axons to their respective targets. Some mutants develop neural tube defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T G 10: 100,446,579 (GRCm39) probably null Het
Ace A G 11: 105,863,353 (GRCm39) D376G probably damaging Het
Adgrb1 C T 15: 74,458,654 (GRCm39) T1252I probably damaging Het
Bhmt T C 13: 93,774,008 (GRCm39) probably benign Het
Ckap5 T C 2: 91,425,186 (GRCm39) probably benign Het
Clcn4 T C 7: 7,299,065 (GRCm39) T37A probably benign Het
Cnmd C T 14: 79,899,400 (GRCm39) V18I probably benign Het
Cryl1 C T 14: 57,513,478 (GRCm39) V248M probably benign Het
D830039M14Rik C T 10: 61,311,262 (GRCm39) probably benign Het
Dido1 T C 2: 180,331,128 (GRCm39) T107A possibly damaging Het
Eml1 A G 12: 108,503,625 (GRCm39) I741V probably benign Het
Gfap A G 11: 102,787,780 (GRCm39) L55P probably damaging Het
Itga6 A G 2: 71,669,027 (GRCm39) I606V probably benign Het
Kif2c G T 4: 117,019,802 (GRCm39) D579E probably damaging Het
Lef1 T C 3: 130,988,442 (GRCm39) probably null Het
Lrrc1 T A 9: 77,342,404 (GRCm39) I357L probably benign Het
Lrrc37 A G 11: 103,504,109 (GRCm39) S2620P probably benign Het
Map3k20 T A 2: 72,202,239 (GRCm39) F157I probably damaging Het
Naga A T 15: 82,214,337 (GRCm39) N391K probably damaging Het
Ncaph T C 2: 126,968,025 (GRCm39) probably benign Het
Or11g2 C A 14: 50,856,185 (GRCm39) Q169K probably benign Het
Or12d13 T A 17: 37,647,887 (GRCm39) M79L probably benign Het
Or5ae1 T G 7: 84,565,567 (GRCm39) Y193* probably null Het
Or6b9 T A 7: 106,555,598 (GRCm39) I182F possibly damaging Het
Or6c2b T G 10: 128,947,904 (GRCm39) Y130S probably damaging Het
Or8g55 T A 9: 39,784,906 (GRCm39) C112S possibly damaging Het
Pappa C A 4: 65,074,863 (GRCm39) D472E possibly damaging Het
Pdxk G A 10: 78,287,319 (GRCm39) L81F probably damaging Het
Pkhd1 G T 1: 20,380,934 (GRCm39) T2635K probably damaging Het
Psmb6 A T 11: 70,417,248 (GRCm39) H99L possibly damaging Het
Ptpn6 C T 6: 124,705,623 (GRCm39) G135E probably benign Het
Ptprz1 T A 6: 22,972,844 (GRCm39) D251E probably benign Het
Ralgapa1 A G 12: 55,689,234 (GRCm39) V1955A possibly damaging Het
Rsph4a T C 10: 33,781,148 (GRCm39) probably benign Het
Sh2d4b T C 14: 40,542,700 (GRCm39) T359A probably benign Het
Sh3bp5l A G 11: 58,237,087 (GRCm39) D348G probably damaging Het
Skint5 A T 4: 113,797,932 (GRCm39) M217K probably damaging Het
Slc30a6 T C 17: 74,711,054 (GRCm39) L49P probably damaging Het
Slc8a1 C T 17: 81,956,173 (GRCm39) M288I probably benign Het
Tmem127 C A 2: 127,097,922 (GRCm39) probably null Het
Tnfrsf17 T C 16: 11,131,811 (GRCm39) probably benign Het
Trak1 A T 9: 121,277,967 (GRCm39) N341I probably damaging Het
Ubr5 A G 15: 38,002,692 (GRCm39) I1453T probably benign Het
Wdr62 T C 7: 29,944,709 (GRCm39) probably null Het
Xrn2 T C 2: 146,880,216 (GRCm39) probably benign Het
Zscan10 C T 17: 23,827,119 (GRCm39) A144V possibly damaging Het
Other mutations in Efna5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Efna5 APN 17 62,920,374 (GRCm39) missense possibly damaging 0.73
IGL02142:Efna5 APN 17 62,914,340 (GRCm39) missense unknown
IGL02152:Efna5 APN 17 62,958,055 (GRCm39) missense probably benign
IGL02534:Efna5 APN 17 62,920,384 (GRCm39) nonsense probably null
R0041:Efna5 UTSW 17 62,914,467 (GRCm39) splice site probably benign
R0265:Efna5 UTSW 17 62,958,068 (GRCm39) missense probably damaging 1.00
R0422:Efna5 UTSW 17 62,914,414 (GRCm39) missense probably benign 0.05
R0565:Efna5 UTSW 17 63,188,031 (GRCm39) missense probably damaging 1.00
R2039:Efna5 UTSW 17 63,188,061 (GRCm39) missense probably benign 0.00
R2570:Efna5 UTSW 17 63,188,023 (GRCm39) missense probably benign 0.04
R4621:Efna5 UTSW 17 62,958,040 (GRCm39) missense probably benign 0.00
R4622:Efna5 UTSW 17 62,958,040 (GRCm39) missense probably benign 0.00
R5672:Efna5 UTSW 17 63,188,025 (GRCm39) missense probably damaging 1.00
R5723:Efna5 UTSW 17 62,914,458 (GRCm39) missense probably damaging 1.00
R7876:Efna5 UTSW 17 62,957,929 (GRCm39) missense possibly damaging 0.74
R8049:Efna5 UTSW 17 62,957,977 (GRCm39) missense probably benign 0.39
R8432:Efna5 UTSW 17 62,958,017 (GRCm39) missense probably damaging 1.00
R8768:Efna5 UTSW 17 63,188,125 (GRCm39) start codon destroyed probably null 0.33
R8856:Efna5 UTSW 17 62,914,374 (GRCm39) missense unknown
R8921:Efna5 UTSW 17 63,188,053 (GRCm39) missense possibly damaging 0.75
RF007:Efna5 UTSW 17 62,920,389 (GRCm39) missense probably benign 0.00
X0021:Efna5 UTSW 17 62,914,395 (GRCm39) missense probably damaging 0.98
X0025:Efna5 UTSW 17 62,958,032 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16