Incidental Mutation 'R5723:Efna5'
ID 501442
Institutional Source Beutler Lab
Gene Symbol Efna5
Ensembl Gene ENSMUSG00000048915
Gene Name ephrin A5
Synonyms AL-1, RAGS, Ephrin-A5, Epl7, EFL-5, LERK-7
MMRRC Submission 043341-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5723 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 62911179-63188312 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 62914458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 189 (D189V)
Ref Sequence ENSEMBL: ENSMUSP00000076115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076840] [ENSMUST00000078839]
AlphaFold O08543
PDB Structure EphB2 / EphrinA5 Complex Structure [X-RAY DIFFRACTION]
Ephrin A5 ligand structure [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000076840
AA Change: D189V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000076115
Gene: ENSMUSG00000048915
AA Change: D189V

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: N162I

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000077883
Gene: ENSMUSG00000048915
AA Change: N162I

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
Meta Mutation Damage Score 0.1129 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 98% (57/58)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,844,445 (GRCm39) D862G possibly damaging Het
Abcg2 C T 6: 58,655,336 (GRCm39) Q109* probably null Het
Acbd7 A G 2: 3,341,455 (GRCm39) Y33C probably damaging Het
Actl7a A G 4: 56,744,310 (GRCm39) D279G probably damaging Het
Akr1c18 A T 13: 4,194,328 (GRCm39) Y110* probably null Het
Akt1 T C 12: 112,623,704 (GRCm39) K276E probably damaging Het
Bcas2 A G 3: 103,084,608 (GRCm39) probably benign Het
C9 T A 15: 6,516,297 (GRCm39) Y367N probably damaging Het
Cd163 A G 6: 124,296,022 (GRCm39) T789A probably benign Het
Cers6 T A 2: 68,938,789 (GRCm39) S344T probably benign Het
Clcn4 A G 7: 7,294,681 (GRCm39) V329A probably damaging Het
Crisp3 A C 17: 40,546,804 (GRCm39) V38G probably damaging Het
Cyp2b23 A G 7: 26,380,821 (GRCm39) F135L probably benign Het
Cyrib A T 15: 63,828,447 (GRCm39) probably null Het
Ddr2 A T 1: 169,816,089 (GRCm39) C539* probably null Het
Endov G T 11: 119,390,675 (GRCm39) V70F probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Frem3 A T 8: 81,340,026 (GRCm39) H773L probably benign Het
Gm43302 T A 5: 105,365,352 (GRCm39) Q552L possibly damaging Het
Gramd1a A T 7: 30,833,908 (GRCm39) W506R probably damaging Het
Hmcn1 C T 1: 150,570,600 (GRCm39) V2188I possibly damaging Het
Ifit1bl2 A G 19: 34,597,458 (GRCm39) F53L probably benign Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kif5a GGGTTGGT GGGT 10: 127,066,898 (GRCm39) probably null Het
Krt16 A G 11: 100,139,272 (GRCm39) Y149H probably damaging Het
Krtap5-2 A T 7: 141,728,742 (GRCm39) C313S unknown Het
Mreg A G 1: 72,201,527 (GRCm39) I155T probably damaging Het
Nans T C 4: 46,499,083 (GRCm39) F130S probably benign Het
Nox4 T C 7: 86,954,181 (GRCm39) probably benign Het
Or3a1d C A 11: 74,237,954 (GRCm39) W32L possibly damaging Het
Or52ad1 A T 7: 102,995,826 (GRCm39) M103K possibly damaging Het
Or56a3 C A 7: 104,740,309 (GRCm39) C179F probably damaging Het
Or5k15 A T 16: 58,709,976 (GRCm39) Y202* probably null Het
Pgap6 CGGGG CGGGGG 17: 26,339,536 (GRCm39) probably null Het
Pkd1 A G 17: 24,784,497 (GRCm39) T348A probably benign Het
Poteg T C 8: 27,940,020 (GRCm39) probably null Het
Prom1 T G 5: 44,172,236 (GRCm39) N585T probably benign Het
Rfc1 T C 5: 65,434,769 (GRCm39) S666G probably null Het
Rilp A G 11: 75,403,687 (GRCm39) probably benign Het
Serpina3i A G 12: 104,231,759 (GRCm39) E132G probably benign Het
Serpina3m T C 12: 104,360,170 (GRCm39) V414A probably damaging Het
Sfrp4 T C 13: 19,807,868 (GRCm39) F89S probably damaging Het
Stat5a A G 11: 100,772,900 (GRCm39) H692R probably benign Het
Tex29 A T 8: 11,904,279 (GRCm39) probably benign Het
Tmc5 T A 7: 118,271,416 (GRCm39) F910I probably damaging Het
Tusc3 G A 8: 39,538,651 (GRCm39) G230D possibly damaging Het
Ubqln3 G A 7: 103,790,674 (GRCm39) P472L probably benign Het
Upb1 A T 10: 75,264,105 (GRCm39) I184F probably damaging Het
Vamp4 T C 1: 162,401,932 (GRCm39) F5L possibly damaging Het
Zfp583 C A 7: 6,326,674 (GRCm39) Q68H probably damaging Het
Zfp831 A C 2: 174,487,200 (GRCm39) H625P probably benign Het
Zfp941 G A 7: 140,392,763 (GRCm39) probably benign 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
IGL02556:Efna5 APN 17 62,958,023 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- CCTTCTTGGGATGAGCAGTTAG -3'
(R):5'- GAAGTCCAATTTCCCCTGCC -3'

Sequencing Primer
(F):5'- GGATCTCTGGTGTTCCAAGACC -3'
(R):5'- CTCTCCTTTGTTTGCTGTAAATAATG -3'
Posted On 2017-12-01