Incidental Mutation 'R8205:Eif4ebp2'
ID 635875
Institutional Source Beutler Lab
Gene Symbol Eif4ebp2
Ensembl Gene ENSMUSG00000020091
Gene Name eukaryotic translation initiation factor 4E binding protein 2
Synonyms 2810011I19Rik, 4E-BP2, PHAS-II
MMRRC Submission 067628-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8205 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 61268276-61288448 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61270704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 108 (H108Q)
Ref Sequence ENSEMBL: ENSMUSP00000020288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020288] [ENSMUST00000167087]
AlphaFold P70445
Predicted Effect probably benign
Transcript: ENSMUST00000020288
AA Change: H108Q

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000020288
Gene: ENSMUSG00000020091
AA Change: H108Q

DomainStartEndE-ValueType
Pfam:eIF_4EBP 1 120 4.2e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167087
AA Change: H108Q

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000131952
Gene: ENSMUSG00000020091
AA Change: H108Q

DomainStartEndE-ValueType
Pfam:eIF_4EBP 1 120 4.2e-51 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 100% (52/52)
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 eukaryotic translation initiation factor 4E binding protein family. The gene products of this family bind eIF4E and inhibit translation initiation. However, insulin and other growth factors can release this inhibition via a phosphorylation-dependent disruption of their binding to eIF4E. Regulation of protein production through these gene products have been implicated in cell proliferation, cell differentiation and viral infection. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display altered synaptic transmission, impaired spatial learning, and long-term memory deficits, and autism-like behaviors including abnormal social investigation, repetitive behaviors and abnormal vocalization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T C 8: 41,278,080 (GRCm39) V157A probably benign Het
Adamtsl1 A G 4: 86,117,650 (GRCm39) *204W probably null Het
Add2 A G 6: 86,063,899 (GRCm39) E66G probably damaging Het
Adgrd1 A G 5: 129,192,175 (GRCm39) T114A possibly damaging Het
Aldh7a1 A T 18: 56,678,070 (GRCm39) I247N probably damaging Het
Ankrd13d A T 19: 4,331,009 (GRCm39) M166K probably damaging Het
Brd7 A G 8: 89,070,243 (GRCm39) F388L probably damaging Het
Cap2 G A 13: 46,768,739 (GRCm39) V182M probably damaging Het
Col22a1 A T 15: 71,732,918 (GRCm39) V1100E unknown Het
Cracdl T C 1: 37,664,047 (GRCm39) D617G probably benign Het
Crisp2 T C 17: 41,095,969 (GRCm39) E63G possibly damaging Het
Dst T G 1: 34,253,685 (GRCm39) W2304G probably damaging Het
Eif2a A C 3: 58,456,156 (GRCm39) N385T probably damaging Het
Fgd3 T C 13: 49,449,823 (GRCm39) D142G probably benign Het
Gbp8 T A 5: 105,198,846 (GRCm39) H23L probably benign Het
Glt1d1 A G 5: 127,768,080 (GRCm39) E229G probably benign Het
Gpatch8 T C 11: 102,371,213 (GRCm39) D775G unknown Het
Heatr1 T C 13: 12,430,928 (GRCm39) Y1008H probably benign Het
Heatr5a T A 12: 52,005,792 (GRCm39) N61I probably benign Het
Hydin A T 8: 111,319,270 (GRCm39) H4391L possibly damaging Het
Ifi206 T C 1: 173,309,450 (GRCm39) E182G Het
Mbtps1 A G 8: 120,247,077 (GRCm39) S789P probably damaging Het
Mex3a T C 3: 88,444,159 (GRCm39) S412P possibly damaging Het
Msantd5f1 G A 4: 73,605,542 (GRCm39) V318I possibly damaging Het
Mup2 T A 4: 60,137,659 (GRCm39) D128V probably benign Het
Ndufaf7 G A 17: 79,254,461 (GRCm39) C418Y probably benign Het
Nlrp4a A G 7: 26,150,219 (GRCm39) S609G probably benign Het
Obscn T A 11: 58,898,697 (GRCm39) Y6554F unknown Het
Odf2l A G 3: 144,856,495 (GRCm39) probably benign Het
Or14j2 A T 17: 37,885,892 (GRCm39) C141S probably damaging Het
Or1o11 T C 17: 37,757,180 (GRCm39) V245A probably damaging Het
Or4c104 A T 2: 88,587,016 (GRCm39) M1K probably null Het
Plod2 G T 9: 92,424,371 (GRCm39) probably benign Het
Ptgfr A G 3: 151,541,418 (GRCm39) V30A probably benign Het
Pxdn T G 12: 30,056,566 (GRCm39) L1259R probably damaging Het
Rnf6 A G 5: 146,147,714 (GRCm39) S435P probably damaging Het
Sacm1l G A 9: 123,415,724 (GRCm39) probably null Het
Scgb2b26 T C 7: 33,643,833 (GRCm39) T36A probably benign Het
Slc1a7 A G 4: 107,865,508 (GRCm39) N332S probably benign Het
Slfn5 T C 11: 82,851,544 (GRCm39) F614L probably benign Het
Smad7 C A 18: 75,527,119 (GRCm39) Q322K probably damaging Het
Smap1 T C 1: 23,888,507 (GRCm39) T253A probably benign Het
Socs5 G T 17: 87,441,138 (GRCm39) R26L probably benign Het
Steap4 A T 5: 8,026,795 (GRCm39) I253F possibly damaging Het
Tacc1 G A 8: 25,672,803 (GRCm39) H142Y probably benign Het
Tent5c A G 3: 100,380,138 (GRCm39) F206S probably benign Het
Tmem117 G A 15: 94,992,679 (GRCm39) M446I probably benign Het
Trav7-6 G A 14: 53,954,550 (GRCm39) D47N probably benign Het
Trim2 C A 3: 84,100,646 (GRCm39) A162S probably damaging Het
Ttc28 A G 5: 111,373,596 (GRCm39) I1011V possibly damaging Het
Vmn2r98 T C 17: 19,301,425 (GRCm39) V809A probably damaging Het
Wfikkn1 T A 17: 26,097,071 (GRCm39) T418S probably benign Het
Zbtb41 T A 1: 139,356,919 (GRCm39) D391E possibly damaging Het
Zfp109 G A 7: 23,928,635 (GRCm39) S266F probably damaging Het
Other mutations in Eif4ebp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03180:Eif4ebp2 APN 10 61,269,589 (GRCm39) missense probably damaging 1.00
R7077:Eif4ebp2 UTSW 10 61,269,580 (GRCm39) missense probably damaging 1.00
R7836:Eif4ebp2 UTSW 10 61,270,772 (GRCm39) missense probably benign
R8030:Eif4ebp2 UTSW 10 61,270,825 (GRCm39) missense probably damaging 1.00
R8748:Eif4ebp2 UTSW 10 61,270,806 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- ATCCACCTCTGGGTTACCAC -3'
(R):5'- CAGGAACACGAATCATTTATGACC -3'

Sequencing Primer
(F):5'- CTTCCTGCAAGCTTGAACGGAAG -3'
(R):5'- ACCGAAAGTTTCTGTTGGACC -3'
Posted On 2020-07-13