|Institutional Source||Beutler Lab|
|Gene Name||fragile X mental retardation, autosomal homolog 2|
|Is this an essential gene?||Possibly essential (E-score: 0.699)|
|Stock #||R7382 (G1)|
|Chromosomal Location||69632990-69653297 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 69641556 bp|
|Amino Acid Change||Valine to Alanine at position 139 (V139A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000018909 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000018909]|
|Predicted Effect||probably benign
AA Change: V139A
PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
AA Change: V139A
|Coding Region Coverage||
|Validation Efficiency||99% (77/78)|
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||
|Other mutations in Fxr2||
(F):5'- ATGAACAGGAACCTTGTGGCTG -3'
(R):5'- AGGGTTATGGGCATAGCATG -3'
(F):5'- CCTTTGGGGAATTCCTGAGAC -3'
(R):5'- GCATAGCATGTAAAAAGGTCCTC -3'