Incidental Mutation 'R6789:Efna3'
ID 532923
Institutional Source Beutler Lab
Gene Symbol Efna3
Ensembl Gene ENSMUSG00000028039
Gene Name ephrin A3
Synonyms LERK-3, Epl3, Ehk1-L, EFL-2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.304) question?
Stock # R6789 (G1)
Quality Score 212.009
Status Not validated
Chromosome 3
Chromosomal Location 89221206-89230272 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 89223769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029673] [ENSMUST00000200436]
AlphaFold O08545
Predicted Effect probably null
Transcript: ENSMUST00000029673
SMART Domains Protein: ENSMUSP00000029673
Gene: ENSMUSG00000028039

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Ephrin 30 158 8.5e-43 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000200436
SMART Domains Protein: ENSMUSP00000143539
Gene: ENSMUSG00000028039

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Ephrin 30 159 4.4e-40 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
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 (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. 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. This gene encodes an EFNA class ephrin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit disorganised and elongated dendritic spine of CA1 pyramidal neuron and reduced hippocampal-dependent learning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 T A 1: 58,343,644 (GRCm39) D442E probably benign Het
Arl6ip4 G A 5: 124,254,665 (GRCm39) G53R probably damaging Het
Asns T C 6: 7,675,344 (GRCm39) T553A probably benign Het
Atp1a1 T A 3: 101,493,614 (GRCm39) N497Y possibly damaging Het
Birc2 T C 9: 7,836,966 (GRCm39) probably benign Het
Catsperd C A 17: 56,961,426 (GRCm39) probably null Het
Dchs1 G T 7: 105,406,210 (GRCm39) Q2341K possibly damaging Het
Dydc2 C A 14: 40,771,296 (GRCm39) V128L probably benign Het
Dync2i2 A G 2: 29,923,284 (GRCm39) probably null Het
Fbn2 C T 18: 58,143,686 (GRCm39) E2790K probably benign Het
Fhip1a A T 3: 85,579,865 (GRCm39) L780* probably null Het
Gm11569 C A 11: 99,689,657 (GRCm39) probably benign Het
Gprc6a C T 10: 51,507,412 (GRCm39) G39D probably damaging Het
Igkv6-17 A G 6: 70,348,692 (GRCm39) D21G probably benign Het
Klra4 T C 6: 130,039,182 (GRCm39) Q70R probably damaging Het
Krtap31-2 C T 11: 99,827,549 (GRCm39) S127F possibly damaging Het
Lingo4 G T 3: 94,306,662 (GRCm39) probably benign Het
Lrp2bp A G 8: 46,466,151 (GRCm39) K87E possibly damaging Het
Macf1 A T 4: 123,266,231 (GRCm39) M5333K probably damaging Het
Mmp13 A T 9: 7,272,781 (GRCm39) Y47F probably benign Het
Muc16 G A 9: 18,471,282 (GRCm39) P7261S probably benign Het
Nostrin G T 2: 69,005,856 (GRCm39) M212I probably benign Het
Nr1h5 G A 3: 102,865,677 (GRCm39) T8M possibly damaging Het
Nup153 A T 13: 46,870,792 (GRCm39) L41H probably damaging Het
Or10b1 T C 10: 78,355,802 (GRCm39) L120P noncoding transcript Het
Or5b97 T A 19: 12,878,653 (GRCm39) I164L probably benign Het
Pappa A T 4: 65,099,278 (GRCm39) D599V probably damaging Het
Pcdh18 G A 3: 49,710,364 (GRCm39) T317I probably benign Het
Pcsk5 T A 19: 17,434,150 (GRCm39) N1406I possibly damaging Het
Pik3c2a A T 7: 115,961,419 (GRCm39) Y1027N probably damaging Het
Prpf6 T A 2: 181,257,844 (GRCm39) Y105* probably null Het
Rab5a C T 17: 53,804,650 (GRCm39) P87S probably damaging Het
Rnf8 T A 17: 29,854,843 (GRCm39) W433R probably damaging Het
Slc18b1 T A 10: 23,692,227 (GRCm39) V232D probably benign Het
Taf11 C A 17: 28,126,492 (GRCm39) A52S probably benign Het
Thoc2l T C 5: 104,665,555 (GRCm39) F26L probably benign Het
Trav9-2 T C 14: 53,828,819 (GRCm39) L63P possibly damaging Het
Zfat T C 15: 67,956,235 (GRCm39) Y1199C probably damaging Het
Other mutations in Efna3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02633:Efna3 APN 3 89,222,749 (GRCm39) missense probably damaging 0.97
R0786:Efna3 UTSW 3 89,223,880 (GRCm39) missense probably damaging 1.00
R4908:Efna3 UTSW 3 89,222,805 (GRCm39) missense probably damaging 0.98
R6175:Efna3 UTSW 3 89,230,105 (GRCm39) small deletion probably benign
R7252:Efna3 UTSW 3 89,223,971 (GRCm39) missense possibly damaging 0.88
R7749:Efna3 UTSW 3 89,223,947 (GRCm39) missense probably damaging 1.00
R9489:Efna3 UTSW 3 89,222,818 (GRCm39) missense probably benign 0.45
Predicted Primers PCR Primer
(F):5'- TTTCTTTGGACATTGGTCACCATG -3'
(R):5'- ACGTGCTGTACATGGTGAACC -3'

Sequencing Primer
(F):5'- GGACATTGGTCACCATGACTTCG -3'
(R):5'- CTGTACATGGTGAACCTGAGC -3'
Posted On 2018-08-29