Incidental Mutation 'R4332:Efna2'
ID 323637
Institutional Source Beutler Lab
Gene Symbol Efna2
Ensembl Gene ENSMUSG00000003070
Gene Name ephrin A2
Synonyms Ephrin-A2, LERK-6, ephrin A6, Epl6, Elf-1, Cek7-L
MMRRC Submission 041099-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4332 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 80015316-80025844 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80024315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 161 (R161Q)
Ref Sequence ENSEMBL: ENSMUSP00000003154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003154]
AlphaFold P52801
Predicted Effect probably damaging
Transcript: ENSMUST00000003154
AA Change: R161Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000003154
Gene: ENSMUSG00000003070
AA Change: R161Q

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Ephrin 30 166 1.6e-38 PFAM
Meta Mutation Damage Score 0.6520 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (56/57)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik T C 8: 106,436,356 (GRCm39) I175T possibly damaging Het
A2m A G 6: 121,634,406 (GRCm39) D646G probably benign Het
Acat2 T C 17: 13,181,782 (GRCm39) probably benign Het
Armc10 T A 5: 21,866,579 (GRCm39) V281E probably damaging Het
Best3 T A 10: 116,838,429 (GRCm39) F162L probably benign Het
Ces1g T C 8: 94,046,446 (GRCm39) M360V probably benign Het
Chd7 G T 4: 8,854,143 (GRCm39) R1905L probably damaging Het
Dhx36 C T 3: 62,392,412 (GRCm39) R538Q probably damaging Het
Farsb T C 1: 78,445,903 (GRCm39) T159A possibly damaging Het
Fry C T 5: 150,305,128 (GRCm39) A611V probably damaging Het
Fsip2 A G 2: 82,808,201 (GRCm39) T1507A probably benign Het
Gm5592 G T 7: 40,865,542 (GRCm39) probably benign Het
Gm7367 T C 7: 59,805,364 (GRCm39) noncoding transcript Het
Gm9312 A T 12: 24,302,095 (GRCm39) noncoding transcript Het
Gmfg A T 7: 28,136,997 (GRCm39) M1L probably benign Het
Gpr149 C A 3: 62,511,794 (GRCm39) L68F possibly damaging Het
Hmga2 T C 10: 120,200,117 (GRCm39) probably benign Het
Il12a C A 3: 68,602,594 (GRCm39) probably benign Het
Itprid1 G A 6: 55,945,220 (GRCm39) G647D possibly damaging Het
Itsn2 T A 12: 4,762,611 (GRCm39) M1597K possibly damaging Het
Kyat3 A G 3: 142,431,187 (GRCm39) I154M probably damaging Het
Npas3 A C 12: 54,108,852 (GRCm39) I419L probably damaging Het
Ogfrl1 T A 1: 23,414,910 (GRCm39) Y199F probably damaging Het
Or14a259 A C 7: 86,013,080 (GRCm39) V155G probably benign Het
Or5aq7 A G 2: 86,938,089 (GRCm39) V214A possibly damaging Het
Or6b6 T C 7: 106,571,354 (GRCm39) M66V probably benign Het
P2rx3 G A 2: 84,855,205 (GRCm39) P84S probably benign Het
P3h3 A G 6: 124,819,099 (GRCm39) V657A probably damaging Het
Pabpc2 A G 18: 39,908,393 (GRCm39) M553V probably benign Het
Pcdhb1 T C 18: 37,398,583 (GRCm39) F178S probably damaging Het
Plppr4 A T 3: 117,116,474 (GRCm39) M403K probably benign Het
Ralgapa2 G A 2: 146,102,288 (GRCm39) T1956M probably benign Het
Rbm12b1 G T 4: 12,145,655 (GRCm39) K542N probably benign Het
Rdh8 C T 9: 20,733,925 (GRCm39) A37V probably damaging Het
Rnf213 A G 11: 119,327,502 (GRCm39) T1830A probably damaging Het
Sardh G T 2: 27,105,126 (GRCm39) Q666K possibly damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Septin4 T G 11: 87,458,730 (GRCm39) L368R possibly damaging Het
Serpinb11 G A 1: 107,297,294 (GRCm39) probably null Het
Slc6a6 G A 6: 91,700,452 (GRCm39) G60D probably damaging Het
Tfr2 A G 5: 137,569,996 (GRCm39) D134G probably damaging Het
Tmprss15 T C 16: 78,831,222 (GRCm39) T378A probably benign Het
Tmprss7 T G 16: 45,506,690 (GRCm39) K124T probably benign Het
Urb1 A G 16: 90,571,425 (GRCm39) L1128P probably damaging Het
Usp32 C T 11: 84,994,804 (GRCm39) C36Y possibly damaging Het
Vmn2r50 T A 7: 9,786,922 (GRCm39) T62S probably benign Het
Zfp110 T A 7: 12,578,498 (GRCm39) Y136* probably null Het
Other mutations in Efna2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02066:Efna2 APN 10 80,024,500 (GRCm39) splice site probably benign
IGL03129:Efna2 APN 10 80,024,346 (GRCm39) splice site probably null
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
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
Predicted Primers PCR Primer
(F):5'- ATAACTCAGCCTTTGGAGTCAGG -3'
(R):5'- TCATCTGTGAGCACAAAAGGGG -3'

Sequencing Primer
(F):5'- TCAGGTTTGGGTGGAGGAAAC -3'
(R):5'- GACAGGTTGTCAGCCAGTTC -3'
Posted On 2015-06-24