Incidental Mutation 'IGL01981:Fxr2'
ID 183489
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fxr2
Ensembl Gene ENSMUSG00000018765
Gene Name FMR1 autosomal homolog 2
Synonyms Fxr2h
Accession Numbers
Essential gene? Probably essential (E-score: 0.773) question?
Stock # IGL01981
Quality Score
Status
Chromosome 11
Chromosomal Location 69523816-69544123 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 69541328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 354 (I354L)
Ref Sequence ENSEMBL: ENSMUSP00000018909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018909] [ENSMUST00000047373]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000018909
AA Change: I354L

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000018909
Gene: ENSMUSG00000018765
AA Change: I354L

DomainStartEndE-ValueType
Pfam:Agenet 72 130 1.3e-10 PFAM
KH 227 294 3.06e-3 SMART
KH 295 366 4.16e-5 SMART
low complexity region 368 380 N/A INTRINSIC
low complexity region 389 406 N/A INTRINSIC
low complexity region 423 442 N/A INTRINSIC
low complexity region 475 503 N/A INTRINSIC
Pfam:FXR_C1 504 579 2.5e-36 PFAM
low complexity region 586 599 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000047373
SMART Domains Protein: ENSMUSP00000048524
Gene: ENSMUSG00000041287

DomainStartEndE-ValueType
low complexity region 31 45 N/A INTRINSIC
HMG 46 116 6.83e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125586
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125989
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132742
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139605
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a RNA binding protein containing two KH domains and one RCG box, which is similar to FMRP and FXR1. It associates with polyribosomes, predominantly with 60S large ribosomal subunits. This encoded protein may self-associate or interact with FMRP and FXR1. It may have a role in the development of fragile X mental retardation syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit hyperactivity, impaired Morris water task performance, and reductions in prepulse inhibition, contextual conditioned fear, and sensitivity to heat stimulus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 A C 7: 27,337,499 (GRCm39) D417A probably benign Het
Ap1b1 T A 11: 4,969,336 (GRCm39) S231T possibly damaging Het
Arhgap31 G A 16: 38,421,935 (GRCm39) T1377I probably damaging Het
Cdkl3 A G 11: 51,895,896 (GRCm39) T48A probably benign Het
Chd3 T C 11: 69,251,501 (GRCm39) Y510C probably damaging Het
Chml A G 1: 175,515,751 (GRCm39) S57P probably damaging Het
Cpxm1 G T 2: 130,236,060 (GRCm39) C367* probably null Het
D930020B18Rik A G 10: 121,528,319 (GRCm39) T428A probably damaging Het
Dnaja3 A T 16: 4,519,033 (GRCm39) I325F probably damaging Het
Efcab3 A T 11: 104,612,258 (GRCm39) probably benign Het
Erbb3 A G 10: 128,407,519 (GRCm39) V943A probably benign Het
Fam110b A G 4: 5,799,481 (GRCm39) I300V probably benign Het
Fam193a A G 5: 34,588,537 (GRCm39) E76G probably damaging Het
Fbxl3 G A 14: 103,332,900 (GRCm39) T26M possibly damaging Het
Furin A G 7: 80,042,647 (GRCm39) L380P probably damaging Het
Garnl3 G T 2: 32,887,741 (GRCm39) N756K probably damaging Het
Gimap1 A G 6: 48,720,258 (GRCm39) Y290C probably damaging Het
Gm5592 G A 7: 40,935,795 (GRCm39) W99* probably null Het
Hexd G T 11: 121,107,819 (GRCm39) S183I possibly damaging Het
Hmg20a C T 9: 56,384,514 (GRCm39) P95S probably damaging Het
Jhy A T 9: 40,806,842 (GRCm39) I769N probably damaging Het
Lrrd1 G T 5: 3,901,267 (GRCm39) C524F probably damaging Het
Musk C A 4: 58,296,629 (GRCm39) S76R probably damaging Het
Myom3 C T 4: 135,513,160 (GRCm39) R613* probably null Het
Naa16 T A 14: 79,618,956 (GRCm39) E172D probably benign Het
Obox6 A T 7: 15,568,846 (GRCm39) M10K possibly damaging Het
Or5al5 A T 2: 85,961,174 (GRCm39) Y278N probably benign Het
Pam C T 1: 97,762,166 (GRCm39) V700M probably damaging Het
Phf8-ps C T 17: 33,286,628 (GRCm39) G58E probably damaging Het
Pkd1l2 C A 8: 117,743,655 (GRCm39) R1978L probably benign Het
Pkhd1 T A 1: 20,593,791 (GRCm39) T1441S possibly damaging Het
Plg A G 17: 12,621,934 (GRCm39) probably benign Het
Pot1a A G 6: 25,750,099 (GRCm39) L521P probably damaging Het
Pramel14 G A 4: 143,720,924 (GRCm39) P6S probably damaging Het
Ptprj A T 2: 90,270,256 (GRCm39) V1280E probably damaging Het
Rcbtb2 T C 14: 73,402,222 (GRCm39) S136P possibly damaging Het
Rtl1 C T 12: 109,558,369 (GRCm39) E1157K possibly damaging Het
Sell G A 1: 163,893,195 (GRCm39) R137Q probably benign Het
Shisa9 A T 16: 12,062,522 (GRCm39) M248L probably benign Het
Spag17 A G 3: 99,966,149 (GRCm39) E1144G probably benign Het
Sphk2 G T 7: 45,360,157 (GRCm39) Q616K probably benign Het
Tecrl T C 5: 83,442,453 (GRCm39) T207A probably benign Het
Ubr5 T C 15: 37,996,842 (GRCm39) T1885A probably benign Het
Usp24 T C 4: 106,232,965 (GRCm39) probably benign Het
Usp32 A G 11: 84,927,350 (GRCm39) M622T probably benign Het
Vangl1 A G 3: 102,091,607 (GRCm39) F160L probably damaging Het
Vps13d T C 4: 144,813,317 (GRCm39) S3289G probably damaging Het
Wdfy4 A G 14: 32,855,673 (GRCm39) F647S probably damaging Het
Wdhd1 A G 14: 47,498,907 (GRCm39) L509P probably damaging Het
Zcchc2 A G 1: 105,955,229 (GRCm39) E640G probably damaging Het
Zfp563 T A 17: 33,324,383 (GRCm39) I326N probably benign Het
Other mutations in Fxr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00469:Fxr2 APN 11 69,532,965 (GRCm39) missense possibly damaging 0.77
IGL00595:Fxr2 APN 11 69,540,018 (GRCm39) missense probably benign 0.01
IGL00659:Fxr2 APN 11 69,531,076 (GRCm39) missense probably benign 0.12
IGL00921:Fxr2 APN 11 69,543,066 (GRCm39) missense probably damaging 1.00
IGL01025:Fxr2 APN 11 69,534,713 (GRCm39) missense probably damaging 1.00
IGL01154:Fxr2 APN 11 69,532,259 (GRCm39) splice site probably benign
IGL01347:Fxr2 APN 11 69,543,114 (GRCm39) missense probably benign 0.27
IGL01743:Fxr2 APN 11 69,543,448 (GRCm39) missense possibly damaging 0.53
IGL02332:Fxr2 APN 11 69,540,664 (GRCm39) critical splice donor site probably null
IGL02385:Fxr2 APN 11 69,543,095 (GRCm39) missense possibly damaging 0.82
IGL03172:Fxr2 APN 11 69,540,665 (GRCm39) critical splice donor site probably null
R0092:Fxr2 UTSW 11 69,532,972 (GRCm39) splice site probably benign
R0720:Fxr2 UTSW 11 69,530,241 (GRCm39) missense probably benign 0.03
R1112:Fxr2 UTSW 11 69,543,074 (GRCm39) missense probably damaging 1.00
R1344:Fxr2 UTSW 11 69,539,710 (GRCm39) missense possibly damaging 0.68
R1635:Fxr2 UTSW 11 69,532,139 (GRCm39) missense possibly damaging 0.77
R1864:Fxr2 UTSW 11 69,543,103 (GRCm39) missense probably benign 0.30
R1957:Fxr2 UTSW 11 69,534,766 (GRCm39) missense probably benign 0.03
R1992:Fxr2 UTSW 11 69,540,659 (GRCm39) missense possibly damaging 0.92
R2243:Fxr2 UTSW 11 69,532,896 (GRCm39) missense possibly damaging 0.93
R2863:Fxr2 UTSW 11 69,530,253 (GRCm39) missense probably damaging 1.00
R2865:Fxr2 UTSW 11 69,530,253 (GRCm39) missense probably damaging 1.00
R5255:Fxr2 UTSW 11 69,534,667 (GRCm39) missense probably benign 0.03
R5726:Fxr2 UTSW 11 69,524,172 (GRCm39) missense probably benign 0.00
R5899:Fxr2 UTSW 11 69,543,511 (GRCm39) missense probably damaging 1.00
R6045:Fxr2 UTSW 11 69,541,877 (GRCm39) missense possibly damaging 0.90
R6146:Fxr2 UTSW 11 69,532,165 (GRCm39) missense possibly damaging 0.82
R6149:Fxr2 UTSW 11 69,540,030 (GRCm39) missense probably benign 0.05
R6195:Fxr2 UTSW 11 69,543,099 (GRCm39) missense probably benign 0.30
R6622:Fxr2 UTSW 11 69,532,416 (GRCm39) critical splice donor site probably null
R7381:Fxr2 UTSW 11 69,532,875 (GRCm39) missense possibly damaging 0.89
R7382:Fxr2 UTSW 11 69,532,382 (GRCm39) missense probably benign 0.03
R9599:Fxr2 UTSW 11 69,543,469 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07