Incidental Mutation 'IGL00595:Fxr2'
ID10854
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fxr2
Ensembl Gene ENSMUSG00000018765
Gene Namefragile X mental retardation, autosomal homolog 2
SynonymsFxr2h
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.606) question?
Stock #IGL00595
Quality Score
Status
Chromosome11
Chromosomal Location69632990-69653297 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 69649192 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 292 (S292A)
Ref Sequence ENSEMBL: ENSMUSP00000018909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018909]
Predicted Effect probably benign
Transcript: ENSMUST00000018909
AA Change: S292A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000018909
Gene: ENSMUSG00000018765
AA Change: S292A

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: 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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik G A 10: 28,973,958 R161* probably null Het
2610002M06Rik A G X: 107,787,844 S189P probably damaging Het
Adam20 T A 8: 40,796,047 F398Y probably benign Het
Ano1 T A 7: 144,638,513 I374F probably damaging Het
Apol10a A T 15: 77,484,935 N45Y probably null Het
Asnsd1 A G 1: 53,347,488 S327P probably damaging Het
Ccdc83 T A 7: 90,244,044 K168N probably damaging Het
Dpysl4 G T 7: 139,096,176 V274F probably damaging Het
Gm15130 T A 2: 111,138,977 D132V unknown Het
Gpr161 A G 1: 165,318,803 H436R probably benign Het
Jaml C T 9: 45,100,989 probably benign Het
Kcnc2 A T 10: 112,461,988 S606C probably damaging Het
Kcnc2 G T 10: 112,461,987 E605D probably benign Het
Kcnrg T C 14: 61,607,910 I133T probably damaging Het
Kdm7a A G 6: 39,144,510 I837T probably benign Het
Lactb2 A G 1: 13,630,126 L227S probably benign Het
Lats1 T G 10: 7,702,305 S398A probably benign Het
Llgl2 T A 11: 115,834,884 D19E probably benign Het
Nup107 T C 10: 117,773,368 probably null Het
Nup107 A T 10: 117,773,352 C365* probably null Het
Plekhf2 T C 4: 10,991,022 K107E probably damaging Het
Rnf139 A T 15: 58,898,542 I139F possibly damaging Het
Rsbn1 A G 3: 103,928,690 N348S probably benign Het
Rttn A T 18: 88,974,340 Q136H probably benign Het
Syne2 C T 12: 75,925,646 T1052I possibly damaging Het
Tom1l1 A T 11: 90,674,740 L101Q probably damaging Het
Tubal3 A G 13: 3,933,015 N265S probably damaging Het
Zfp141 T C 7: 42,476,655 N131S probably benign Het
Zfp944 T C 17: 22,339,205 S354G probably benign Het
Zfp961 G A 8: 71,968,428 A262T probably damaging Het
Other mutations in Fxr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00469:Fxr2 APN 11 69642139 missense possibly damaging 0.77
IGL00659:Fxr2 APN 11 69640250 missense probably benign 0.12
IGL00921:Fxr2 APN 11 69652240 missense probably damaging 1.00
IGL01025:Fxr2 APN 11 69643887 missense probably damaging 1.00
IGL01154:Fxr2 APN 11 69641433 splice site probably benign
IGL01347:Fxr2 APN 11 69652288 missense probably benign 0.27
IGL01743:Fxr2 APN 11 69652622 missense possibly damaging 0.53
IGL01981:Fxr2 APN 11 69650502 missense possibly damaging 0.95
IGL02332:Fxr2 APN 11 69649838 critical splice donor site probably null
IGL02385:Fxr2 APN 11 69652269 missense possibly damaging 0.82
IGL03172:Fxr2 APN 11 69649839 critical splice donor site probably null
R0092:Fxr2 UTSW 11 69642146 splice site probably benign
R0720:Fxr2 UTSW 11 69639415 missense probably benign 0.03
R1112:Fxr2 UTSW 11 69652248 missense probably damaging 1.00
R1344:Fxr2 UTSW 11 69648884 missense possibly damaging 0.68
R1635:Fxr2 UTSW 11 69641313 missense possibly damaging 0.77
R1864:Fxr2 UTSW 11 69652277 missense probably benign 0.30
R1957:Fxr2 UTSW 11 69643940 missense probably benign 0.03
R1992:Fxr2 UTSW 11 69649833 missense possibly damaging 0.92
R2243:Fxr2 UTSW 11 69642070 missense possibly damaging 0.93
R2863:Fxr2 UTSW 11 69639427 missense probably damaging 1.00
R2865:Fxr2 UTSW 11 69639427 missense probably damaging 1.00
R5255:Fxr2 UTSW 11 69643841 missense probably benign 0.03
R5726:Fxr2 UTSW 11 69633346 missense probably benign 0.00
R5899:Fxr2 UTSW 11 69652685 missense probably damaging 1.00
R6045:Fxr2 UTSW 11 69651051 missense possibly damaging 0.90
R6146:Fxr2 UTSW 11 69641339 missense possibly damaging 0.82
R6149:Fxr2 UTSW 11 69649204 missense probably benign 0.05
R6195:Fxr2 UTSW 11 69652273 missense probably benign 0.30
R6622:Fxr2 UTSW 11 69641590 critical splice donor site probably null
R7381:Fxr2 UTSW 11 69642049 missense possibly damaging 0.89
R7382:Fxr2 UTSW 11 69641556 missense probably benign 0.03
Posted On2012-12-06