Incidental Mutation 'R0786:Efna3'
ID 76842
Institutional Source Beutler Lab
Gene Symbol Efna3
Ensembl Gene ENSMUSG00000028039
Gene Name ephrin A3
Synonyms LERK-3, Epl3, Ehk1-L, EFL-2
MMRRC Submission 038966-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.336) question?
Stock # R0786 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 89221206-89230272 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89223880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 103 (N103S)
Ref Sequence ENSEMBL: ENSMUSP00000143539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029673] [ENSMUST00000200436]
AlphaFold O08545
Predicted Effect probably damaging
Transcript: ENSMUST00000029673
AA Change: N103S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029673
Gene: ENSMUSG00000028039
AA Change: N103S

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Ephrin 30 158 8.5e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135144
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139439
Predicted Effect probably damaging
Transcript: ENSMUST00000200436
AA Change: N103S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143539
Gene: ENSMUSG00000028039
AA Change: N103S

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Ephrin 30 159 4.4e-40 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.6%
  • 20x: 92.6%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb3 T C 8: 27,716,880 (GRCm39) probably benign Het
Atg2b T C 12: 105,602,767 (GRCm39) H1592R probably benign Het
Bpifb1 C T 2: 154,044,581 (GRCm39) A16V probably benign Het
Cep57 T A 9: 13,721,166 (GRCm39) Y271F probably damaging Het
Cfap54 A T 10: 92,803,397 (GRCm39) N1548K possibly damaging Het
Chrna6 A T 8: 27,898,408 (GRCm39) D103E probably benign Het
Clec12b T C 6: 129,357,651 (GRCm39) N69S probably benign Het
Col27a1 T C 4: 63,209,815 (GRCm39) probably null Het
Cwh43 T A 5: 73,565,526 (GRCm39) Y30* probably null Het
Dnai7 A G 6: 145,127,483 (GRCm39) probably null Het
Dsg4 T C 18: 20,582,429 (GRCm39) probably null Het
Efr3a A G 15: 65,725,400 (GRCm39) D532G possibly damaging Het
Fam227a A T 15: 79,510,469 (GRCm39) V395D probably benign Het
Fes T A 7: 80,036,668 (GRCm39) D93V probably damaging Het
Gbp3 T A 3: 142,276,732 (GRCm39) M510K possibly damaging Het
Gpr12 A T 5: 146,520,314 (GRCm39) S44T probably damaging Het
Gpr179 T C 11: 97,234,100 (GRCm39) N583S probably damaging Het
Hipk1 T C 3: 103,651,620 (GRCm39) T1093A probably benign Het
Hspb1 T C 5: 135,918,097 (GRCm39) L148P probably damaging Het
Kirrel3 A G 9: 34,946,161 (GRCm39) N640S probably damaging Het
Mak G T 13: 41,199,545 (GRCm39) Q365K probably benign Het
Melk A G 4: 44,303,649 (GRCm39) Y14C unknown Het
Myh7 T C 14: 55,230,330 (GRCm39) M1V probably null Het
Nsmf A G 2: 24,950,522 (GRCm39) Y330C probably damaging Het
Parp14 A G 16: 35,661,172 (GRCm39) F1592S possibly damaging Het
Pnpla6 A T 8: 3,573,317 (GRCm39) I394F probably benign Het
Ppl T C 16: 4,906,918 (GRCm39) R1126G probably damaging Het
Prss8 C T 7: 127,525,646 (GRCm39) R291Q probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rasgrp1 G T 2: 117,130,980 (GRCm39) D155E probably benign Het
Recql5 T C 11: 115,786,628 (GRCm39) I563V probably benign Het
Rhbg C T 3: 88,151,875 (GRCm39) M394I probably benign Het
Rnf130 A G 11: 49,978,264 (GRCm39) D275G probably damaging Het
Smg9 T C 7: 24,120,289 (GRCm39) F421S probably benign Het
Tgm2 T C 2: 157,966,301 (GRCm39) E451G probably damaging Het
Tle1 T A 4: 72,117,598 (GRCm39) T21S probably damaging Het
Tmc5 T C 7: 118,226,433 (GRCm39) I266T possibly damaging Het
Tmigd3 T A 3: 105,824,318 (GRCm39) C96S probably damaging Het
Trdn A T 10: 33,181,077 (GRCm39) T361S probably benign Het
Vgll3 A T 16: 65,657,568 (GRCm39) Q261L probably benign Het
Vmn2r104 A T 17: 20,262,987 (GRCm39) I158K probably benign Het
Zfp964 A G 8: 70,116,731 (GRCm39) K444E possibly damaging Het
Other mutations in Efna3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02633:Efna3 APN 3 89,222,749 (GRCm39) missense probably damaging 0.97
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
R6789:Efna3 UTSW 3 89,223,769 (GRCm39) critical splice donor site probably null
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'- TCTCAGAGCTGAAACCCTGAAGCC -3'
(R):5'- TGACATGGAAAGCCTTGGAGCATTG -3'

Sequencing Primer
(F):5'- TGAAGCCTATCCCTGGTGAC -3'
(R):5'- AGCATTGGAGTTTCTTCTCTGAC -3'
Posted On 2013-10-16