Incidental Mutation 'R7077:Eif4ebp2'
ID 549284
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 045172-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7077 (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 C at 61269580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 120 (I120S)
Ref Sequence ENSEMBL: ENSMUSP00000020288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020288] [ENSMUST00000167087]
AlphaFold P70445
Predicted Effect probably damaging
Transcript: ENSMUST00000020288
AA Change: I120S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020288
Gene: ENSMUSG00000020091
AA Change: I120S

DomainStartEndE-ValueType
Pfam:eIF_4EBP 1 120 4.2e-51 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167087
AA Change: I120S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131952
Gene: ENSMUSG00000020091
AA Change: I120S

DomainStartEndE-ValueType
Pfam:eIF_4EBP 1 120 4.2e-51 PFAM
Meta Mutation Damage Score 0.6111 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (54/55)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 C T 12: 81,605,893 (GRCm39) C623Y probably damaging Het
Ago3 T C 4: 126,265,325 (GRCm39) K322R probably null Het
Ankrd17 T C 5: 90,433,723 (GRCm39) H682R possibly damaging Het
Aoah A G 13: 21,094,276 (GRCm39) D187G probably damaging Het
Arhgap17 T C 7: 122,879,231 (GRCm39) D840G unknown Het
AW551984 C T 9: 39,502,723 (GRCm39) V650I probably benign Het
Bok T A 1: 93,616,911 (GRCm39) Y86N probably damaging Het
Ccdc146 T A 5: 21,510,272 (GRCm39) N580I possibly damaging Het
Ccng2 T C 5: 93,417,199 (GRCm39) S72P possibly damaging Het
Cfap74 T G 4: 155,540,134 (GRCm39) I977S unknown Het
Cobl T C 11: 12,203,441 (GRCm39) N1087S probably benign Het
Cyp21a1 C A 17: 35,021,333 (GRCm39) R346L probably damaging Het
Eif4a1 A C 11: 69,561,490 (GRCm39) F52L probably damaging Het
Enpp2 A C 15: 54,764,787 (GRCm39) D146E probably benign Het
Exosc9 T C 3: 36,607,205 (GRCm39) Y30H probably damaging Het
Fam117a G A 11: 95,268,498 (GRCm39) G300S probably benign Het
Focad C A 4: 88,328,914 (GRCm39) A1709E unknown Het
Fsd1 G A 17: 56,300,876 (GRCm39) R245H probably damaging Het
Fsip2 T C 2: 82,813,496 (GRCm39) F3272L probably benign Het
Gcnt2 G A 13: 41,013,896 (GRCm39) M22I probably benign Het
Gjd4 T C 18: 9,280,928 (GRCm39) E50G probably damaging Het
Gm10375 G T 14: 43,840,427 (GRCm39) T162K probably benign Het
Gm10837 C G 14: 122,728,142 (GRCm39) A6G unknown Het
Gm4924 T C 10: 82,215,057 (GRCm39) F952L unknown Het
Heatr1 T C 13: 12,433,045 (GRCm39) F1132L possibly damaging Het
Hnrnpu A G 1: 178,159,756 (GRCm39) Y442H unknown Het
Hp1bp3 C A 4: 137,966,929 (GRCm39) T408N probably damaging Het
Htra3 A G 5: 35,825,660 (GRCm39) V198A probably damaging Het
Katnal1 T C 5: 148,828,547 (GRCm39) T300A probably benign Het
Lipo5 G T 19: 33,445,170 (GRCm39) P133Q Het
Lrp1b A T 2: 41,660,858 (GRCm39) H197Q Het
Mdc1 C A 17: 36,156,839 (GRCm39) A82D probably damaging Het
Mstn A T 1: 53,103,408 (GRCm39) D248V probably benign Het
Myo1d C T 11: 80,565,460 (GRCm39) E426K probably damaging Het
Ola1 G A 2: 72,972,308 (GRCm39) T221I probably damaging Het
Or52z1 A G 7: 103,436,593 (GRCm39) I297T probably damaging Het
Or5t7 T C 2: 86,507,236 (GRCm39) Y147C possibly damaging Het
Or7e166 T A 9: 19,624,428 (GRCm39) S102T probably benign Het
Or8c20 T A 9: 38,261,266 (GRCm39) Y290N probably damaging Het
Phldb1 T C 9: 44,623,201 (GRCm39) T618A possibly damaging Het
Pkd1 T G 17: 24,810,093 (GRCm39) W3565G probably damaging Het
Prl3a1 A T 13: 27,460,086 (GRCm39) N190I probably benign Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Ptpn11 C T 5: 121,281,633 (GRCm39) R484Q probably benign Het
Rapgef4 T C 2: 72,071,820 (GRCm39) M900T probably damaging Het
Slc1a2 A T 2: 102,607,855 (GRCm39) D501V probably benign Het
Smarcd3 G T 5: 24,799,960 (GRCm39) A270D probably damaging Het
Srgap2 A G 1: 131,272,187 (GRCm39) M33T Het
Tle1 G C 4: 72,076,612 (GRCm39) P139A probably benign Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tsbp1 C A 17: 34,659,856 (GRCm39) T93N possibly damaging Het
Zfp658 T A 7: 43,223,413 (GRCm39) S563T probably benign Het
Zswim9 G A 7: 12,993,679 (GRCm39) R826C probably damaging Het
Other mutations in Eif4ebp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03180:Eif4ebp2 APN 10 61,269,589 (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
R8205:Eif4ebp2 UTSW 10 61,270,704 (GRCm39) missense probably benign 0.12
R8748:Eif4ebp2 UTSW 10 61,270,806 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- TTCTGTGGACTGGTCAGCTC -3'
(R):5'- AGTATTGCACTCAGGAATAGGTG -3'

Sequencing Primer
(F):5'- CCTAACCTTAACTGGGCAGAGG -3'
(R):5'- CACTCAGGAATAGGTGTCTGAGGTC -3'
Posted On 2019-05-15