Incidental Mutation 'IGL01154:Fxr2'
ID 52405
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 # IGL01154
Quality Score
Status
Chromosome 11
Chromosomal Location 69523816-69544123 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 69532259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000018909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018909]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000018909
SMART Domains Protein: ENSMUSP00000018909
Gene: ENSMUSG00000018765

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 noncoding transcript
Transcript: ENSMUST00000139605
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155513
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
2210408I21Rik T G 13: 77,429,213 (GRCm39) F767V probably benign Het
A2m C A 6: 121,650,501 (GRCm39) S1203* probably null Het
Abcc3 T C 11: 94,250,058 (GRCm39) probably benign Het
Adamts13 T C 2: 26,896,206 (GRCm39) Y1200H probably benign Het
Aldh1l2 T C 10: 83,356,237 (GRCm39) D51G probably damaging Het
Apc2 A G 10: 80,148,903 (GRCm39) E1319G possibly damaging Het
Arap3 A T 18: 38,129,787 (GRCm39) S125T probably benign Het
Atp2b1 T A 10: 98,832,750 (GRCm39) V417E probably damaging Het
Bpifa1 T A 2: 153,985,920 (GRCm39) D78E probably benign Het
Catsperb C A 12: 101,591,940 (GRCm39) A1090E possibly damaging Het
Ceacam9 C A 7: 16,457,886 (GRCm39) T138K probably damaging Het
Cenpf T A 1: 189,412,530 (GRCm39) E244D probably benign Het
Cep135 A T 5: 76,754,643 (GRCm39) probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Col15a1 A C 4: 47,208,450 (GRCm39) T6P possibly damaging Het
Cyp11b1 T A 15: 74,710,383 (GRCm39) Q306L probably benign Het
Defa22 T A 8: 21,653,053 (GRCm39) probably null Het
Dnah5 A T 15: 28,458,802 (GRCm39) T4480S possibly damaging Het
Fastkd1 T C 2: 69,520,404 (GRCm39) probably null Het
Flt1 A G 5: 147,512,966 (GRCm39) Y1124H possibly damaging Het
Fsd1l A G 4: 53,701,074 (GRCm39) M469V probably benign Het
Gm10801 A T 2: 98,494,328 (GRCm39) Y135F probably benign Het
Grm4 A T 17: 27,653,711 (GRCm39) C699* probably null Het
Hcn4 A G 9: 58,766,362 (GRCm39) T677A unknown Het
Igkv9-123 G T 6: 67,931,518 (GRCm39) probably benign Het
Irf4 T A 13: 30,941,404 (GRCm39) H253Q possibly damaging Het
Jakmip2 T C 18: 43,723,744 (GRCm39) probably benign Het
Kmt2c A G 5: 25,489,397 (GRCm39) V1134A probably damaging Het
Limch1 G T 5: 66,903,301 (GRCm39) E17* probably null Het
Nap1l1 T A 10: 111,322,536 (GRCm39) N72K probably damaging Het
Or4x11 T C 2: 89,867,812 (GRCm39) L183P probably damaging Het
Or51t4 T C 7: 102,598,046 (GRCm39) S115P probably damaging Het
Otud6b A T 4: 14,811,732 (GRCm39) Y304N probably damaging Het
Pdcd10 A C 3: 75,448,540 (GRCm39) M8R probably damaging Het
Ppip5k1 T C 2: 121,173,660 (GRCm39) T404A probably damaging Het
Ppp2r2d C T 7: 138,483,940 (GRCm39) A197V probably benign Het
Psg25 C T 7: 18,258,624 (GRCm39) D351N probably benign Het
Sbno1 A T 5: 124,548,312 (GRCm39) I87N probably damaging Het
Stfa2l1 C T 16: 35,980,307 (GRCm39) probably benign Het
Sugp2 T A 8: 70,695,349 (GRCm39) D107E probably damaging Het
Syne1 G T 10: 5,310,848 (GRCm39) F576L probably damaging Het
Syne3 A G 12: 104,924,328 (GRCm39) F357S probably benign Het
Tenm2 A G 11: 35,932,371 (GRCm39) L1741P probably damaging Het
Tgs1 A T 4: 3,585,473 (GRCm39) K117* probably null Het
Tram1 C T 1: 13,649,673 (GRCm39) probably null Het
Trank1 T A 9: 111,215,468 (GRCm39) D1799E probably benign Het
Ttc14 A T 3: 33,857,248 (GRCm39) Y198F probably benign Het
Ube3b A G 5: 114,544,313 (GRCm39) N570S probably null Het
Ube4b A G 4: 149,449,927 (GRCm39) F412S probably benign Het
Vac14 T C 8: 111,380,239 (GRCm39) probably benign Het
Vmn2r65 T C 7: 84,592,729 (GRCm39) T493A probably benign Het
Zfp408 T C 2: 91,478,351 (GRCm39) probably benign Het
Zfp580 C T 7: 5,056,267 (GRCm39) T209I possibly damaging 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
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
IGL01981:Fxr2 APN 11 69,541,328 (GRCm39) missense possibly damaging 0.95
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 2013-06-21