Incidental Mutation 'R4621:Efna5'
ID 346190
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 041886-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4621 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 62911179-63188312 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62958040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 72 (D72G)
Ref Sequence ENSEMBL: ENSMUSP00000077883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076840] [ENSMUST00000078839]
AlphaFold O08543
Predicted Effect probably benign
Transcript: ENSMUST00000076840
AA Change: D72G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000076115
Gene: ENSMUSG00000048915
AA Change: D72G

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 benign
Transcript: ENSMUST00000078839
AA Change: D72G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000077883
Gene: ENSMUSG00000048915
AA Change: D72G

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 0.1204 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (90/90)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd2 T C 7: 78,975,235 (GRCm39) Y142H probably damaging Het
Abra C T 15: 41,732,620 (GRCm39) D149N probably benign Het
Acin1 A T 14: 54,890,900 (GRCm39) probably benign Het
Adap2 T A 11: 80,064,899 (GRCm39) probably null Het
Afdn A G 17: 14,109,082 (GRCm39) E1535G probably damaging Het
Ajm1 G A 2: 25,468,412 (GRCm39) P500S probably damaging Het
Ak9 A G 10: 41,282,887 (GRCm39) N1218D possibly damaging Het
Angptl1 G A 1: 156,672,494 (GRCm39) V107M probably damaging Het
Arhgap26 G A 18: 39,032,894 (GRCm39) probably benign Het
Cage1 A C 13: 38,209,477 (GRCm39) S61A possibly damaging Het
Cdadc1 T C 14: 59,824,004 (GRCm39) T163A probably benign Het
Celsr2 A T 3: 108,302,532 (GRCm39) V2568D possibly damaging Het
Cep44 G A 8: 56,995,951 (GRCm39) T166M probably damaging Het
Cnksr3 T C 10: 7,076,182 (GRCm39) K187E possibly damaging Het
Cyp20a1 A G 1: 60,415,258 (GRCm39) T295A probably benign Het
Dus2 T A 8: 106,757,074 (GRCm39) M88K probably damaging Het
E330034G19Rik A T 14: 24,346,070 (GRCm39) probably benign Het
Ecrg4 G A 1: 43,776,412 (GRCm39) probably null Het
Epb41l2 T C 10: 25,378,038 (GRCm39) probably null Het
Espn A G 4: 152,215,709 (GRCm39) S408P probably damaging Het
Evi5l T C 8: 4,252,909 (GRCm39) probably benign Het
F830016B08Rik G A 18: 60,433,939 (GRCm39) V341I probably benign Het
Flii A G 11: 60,606,937 (GRCm39) L1013P possibly damaging Het
Fndc10 G A 4: 155,779,264 (GRCm39) V103M probably damaging Het
Frem3 T A 8: 81,395,820 (GRCm39) probably null Het
Gltp C T 5: 114,812,188 (GRCm39) R106Q probably damaging Het
Gtf3c3 A G 1: 54,458,575 (GRCm39) Y449H probably damaging Het
H1f9 G A 11: 94,858,986 (GRCm39) V94M probably damaging Het
Hmga1b T C 11: 120,653,866 (GRCm39) V51A probably damaging Het
Hsph1 A G 5: 149,542,308 (GRCm39) V705A probably benign Het
Igkv13-84 T C 6: 68,916,783 (GRCm39) S27P possibly damaging Het
Il15ra A G 2: 11,723,140 (GRCm39) N55D possibly damaging Het
Kctd19 T G 8: 106,123,103 (GRCm39) N104H probably damaging Het
Kif27 T G 13: 58,478,827 (GRCm39) D572A probably benign Het
Larp1b G A 3: 40,918,424 (GRCm39) G22R possibly damaging Het
Lcn2 A T 2: 32,274,655 (GRCm39) probably benign Het
Lmtk2 T A 5: 144,111,752 (GRCm39) I824N probably benign Het
Ltbp2 A G 12: 84,856,122 (GRCm39) I707T probably damaging Het
Macf1 A G 4: 123,266,141 (GRCm39) probably null Het
Magel2 A T 7: 62,027,486 (GRCm39) H130L unknown Het
Mcoln1 A G 8: 3,555,923 (GRCm39) I73V probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mycbp2 G T 14: 103,457,415 (GRCm39) T1627K probably benign Het
Myh8 A G 11: 67,177,084 (GRCm39) E412G probably damaging Het
Myo9a T A 9: 59,778,355 (GRCm39) D1370E probably benign Het
Ndufaf5 A G 2: 140,025,845 (GRCm39) T135A probably benign Het
Neb G A 2: 52,161,051 (GRCm39) Q2207* probably null Het
Nek3 T C 8: 22,647,055 (GRCm39) Y160C probably damaging Het
Or2y6 G C 11: 52,104,706 (GRCm39) L37V probably benign Het
Or5k8 A T 16: 58,644,469 (GRCm39) I201N possibly damaging Het
Osbpl8 A G 10: 111,105,279 (GRCm39) I245V probably benign Het
Pcdh9 T C 14: 94,125,079 (GRCm39) I241V probably benign Het
Pcdhb12 A G 18: 37,570,213 (GRCm39) Q453R probably benign Het
Pcdhb2 A G 18: 37,428,980 (GRCm39) T318A probably benign Het
Prlr T A 15: 10,319,462 (GRCm39) probably benign Het
Ptprz1 C T 6: 23,001,453 (GRCm39) A1181V possibly damaging Het
Racgap1 C A 15: 99,524,087 (GRCm39) S440I probably benign Het
Rap1gap2 A G 11: 74,326,525 (GRCm39) probably null Het
Rbm5 A G 9: 107,631,345 (GRCm39) V244A probably damaging Het
Rexo5 T G 7: 119,418,722 (GRCm39) I254R probably benign Het
Robo2 A T 16: 73,782,821 (GRCm39) S316T probably benign Het
Satb2 A T 1: 56,884,778 (GRCm39) V382E probably damaging Het
Scg2 C T 1: 79,414,381 (GRCm39) R114Q probably benign Het
Scube2 T C 7: 109,399,857 (GRCm39) D893G possibly damaging Het
Snrpn T C 7: 59,637,274 (GRCm39) D14G possibly damaging Het
Spag17 A G 3: 100,010,559 (GRCm39) T2018A probably benign Het
Spata9 T G 13: 76,116,001 (GRCm39) F17V possibly damaging Het
Supt6 A G 11: 78,103,572 (GRCm39) Y1378H possibly damaging Het
Thsd7b T C 1: 129,358,652 (GRCm39) S29P possibly damaging Het
Tmem59 A T 4: 107,047,915 (GRCm39) probably benign Het
Tmem87a A G 2: 120,227,905 (GRCm39) S81P probably benign Het
Togaram1 A T 12: 65,029,224 (GRCm39) E882D possibly damaging Het
Trbj2-4 T A 6: 41,520,308 (GRCm39) probably benign Het
Trim42 T A 9: 97,245,201 (GRCm39) Y533F probably benign Het
Tssk5 C T 15: 76,256,668 (GRCm39) R280Q probably benign Het
Vmn1r82 A G 7: 12,039,263 (GRCm39) T179A possibly damaging Het
Yipf7 T A 5: 69,676,704 (GRCm39) Q145L 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
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
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
Predicted Primers PCR Primer
(F):5'- GCCTGGCCTGAATTCAAATCC -3'
(R):5'- GCGTTCAGTGAAGACTTTTCATAC -3'

Sequencing Primer
(F):5'- GCCTGGCCTGAATTCAAATCCTAAAG -3'
(R):5'- TGTTTGATCTCCAAAGTTATTGAAGG -3'
Posted On 2015-09-25