Incidental Mutation 'R7687:Rbfox2'
ID 593174
Institutional Source Beutler Lab
Gene Symbol Rbfox2
Ensembl Gene ENSMUSG00000033565
Gene Name RNA binding protein, fox-1 homolog (C. elegans) 2
Synonyms Rbm9, 2810460A15Rik, Fxh, Fbm2
Accession Numbers
Essential gene? Possibly essential (E-score: 0.580) question?
Stock # R7687 (G1)
Quality Score 129.008
Status Not validated
Chromosome 15
Chromosomal Location 76963190-77191204 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 77190694 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 17 (G17D)
Ref Sequence ENSEMBL: ENSMUSP00000130739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048145] [ENSMUST00000171751] [ENSMUST00000228582]
AlphaFold Q8BP71
Predicted Effect unknown
Transcript: ENSMUST00000048145
AA Change: G17D
SMART Domains Protein: ENSMUSP00000048056
Gene: ENSMUSG00000033565
AA Change: G17D

low complexity region 2 22 N/A INTRINSIC
low complexity region 91 107 N/A INTRINSIC
low complexity region 139 150 N/A INTRINSIC
low complexity region 156 178 N/A INTRINSIC
RRM 181 252 1.77e-24 SMART
Pfam:Fox-1_C 319 374 2.9e-18 PFAM
low complexity region 375 390 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000171751
AA Change: G17D
SMART Domains Protein: ENSMUSP00000130739
Gene: ENSMUSG00000033565
AA Change: G17D

low complexity region 2 22 N/A INTRINSIC
low complexity region 91 107 N/A INTRINSIC
low complexity region 139 150 N/A INTRINSIC
low complexity region 156 178 N/A INTRINSIC
RRM 181 252 1.77e-24 SMART
Pfam:Fox-1_C 324 421 7e-47 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000228582
AA Change: G17D
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of several human genes similar to the C. elegans gene Fox-1. This gene encodes an RNA binding protein that is thought to be a key regulator of alternative exon splicing in the nervous system and other cell types. The protein binds to a conserved UGCAUG element found downstream of many alternatively spliced exons and promotes inclusion of the alternative exon in mature transcripts. The protein also interacts with the estrogen receptor 1 transcription factor and regulates estrogen receptor 1 transcriptional activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in the brain exhibit normal spontaneous and kainic acid-induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,297,341 (GRCm39) K2383R probably benign Het
Acly C T 11: 100,395,680 (GRCm39) probably null Het
Baiap3 T A 17: 25,468,311 (GRCm39) I276F possibly damaging Het
Cdc14b A T 13: 64,357,007 (GRCm39) D419E probably benign Het
Celsr2 G T 3: 108,305,085 (GRCm39) P2165T probably benign Het
Clk4 A G 11: 51,172,225 (GRCm39) D476G probably benign Het
Dera A G 6: 137,813,878 (GRCm39) T10A Het
Dip2c A T 13: 9,654,617 (GRCm39) T742S probably benign Het
Dohh C A 10: 81,223,640 (GRCm39) A231E probably benign Het
Dot1l T G 10: 80,625,202 (GRCm39) S1150A possibly damaging Het
Eea1 T A 10: 95,862,460 (GRCm39) I794N probably benign Het
En2 T C 5: 28,375,287 (GRCm39) S277P probably damaging Het
Erich1 A G 8: 14,080,691 (GRCm39) L276P probably damaging Het
Flnb A G 14: 7,924,224 (GRCm38) N1779S probably damaging Het
Frzb T A 2: 80,254,979 (GRCm39) T186S probably benign Het
Gdf7 T A 12: 8,348,257 (GRCm39) R347* probably null Het
Ighv9-4 T C 12: 114,263,883 (GRCm39) I17V not run Het
Ipo13 G A 4: 117,769,088 (GRCm39) P235S probably benign Het
Itga2 C A 13: 115,002,796 (GRCm39) G565C probably damaging Het
Kcnk10 A G 12: 98,401,355 (GRCm39) I440T probably damaging Het
Kdm3a T A 6: 71,576,476 (GRCm39) K779N possibly damaging Het
Kmt2d C T 15: 98,760,001 (GRCm39) D1086N unknown Het
Kntc1 A G 5: 123,897,152 (GRCm39) I172V probably benign Het
Maip1 A G 1: 57,451,003 (GRCm39) E215G probably damaging Het
Mms19 A T 19: 41,943,607 (GRCm39) M417K possibly damaging Het
Mslnl T C 17: 25,962,157 (GRCm39) V185A probably damaging Het
Naa11 A T 5: 97,539,648 (GRCm39) V170E probably benign Het
Ncapg C T 5: 45,857,227 (GRCm39) P980S probably benign Het
Or2aj5 T C 16: 19,424,485 (GRCm39) N310S probably benign Het
Pbxip1 A G 3: 89,355,506 (GRCm39) D675G probably damaging Het
Pdlim5 A G 3: 141,983,608 (GRCm39) S382P probably benign Het
Pkd1l1 T A 11: 8,804,390 (GRCm39) I2184F Het
Plau A G 14: 20,889,866 (GRCm39) Y237C probably damaging Het
Ppl T C 16: 4,915,806 (GRCm39) T586A probably benign Het
Rapgef6 T G 11: 54,551,901 (GRCm39) I923S possibly damaging Het
Sema3b T C 9: 107,481,013 (GRCm39) D108G probably damaging Het
Slc6a20a A G 9: 123,485,331 (GRCm39) I297T probably damaging Het
Slit1 A G 19: 41,639,128 (GRCm39) F261L probably benign Het
Tcp10a T A 17: 7,612,507 (GRCm39) V433D probably damaging Het
Tktl2 A G 8: 66,965,753 (GRCm39) E437G probably damaging Het
Tll1 G T 8: 64,574,526 (GRCm39) Y109* probably null Het
Tmem79 A G 3: 88,239,888 (GRCm39) V274A probably damaging Het
Tnfrsf23 G A 7: 143,235,199 (GRCm39) S55L probably benign Het
Ubd T C 17: 37,504,865 (GRCm39) probably null Het
Ubl3 C A 5: 148,442,985 (GRCm39) R105L possibly damaging Het
Ubl7 A T 9: 57,821,867 (GRCm39) D72V probably damaging Het
Wdr55 T C 18: 36,895,076 (GRCm39) S81P probably damaging Het
Wtip T C 7: 33,816,044 (GRCm39) Y344C probably damaging Het
Zfp488 A G 14: 33,692,357 (GRCm39) S269P possibly damaging Het
Zkscan2 A C 7: 123,099,085 (GRCm39) S36A probably benign Het
Other mutations in Rbfox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Rbfox2 APN 15 76,987,136 (GRCm39) missense probably damaging 1.00
R0026:Rbfox2 UTSW 15 76,968,357 (GRCm39) missense possibly damaging 0.66
R0130:Rbfox2 UTSW 15 76,976,057 (GRCm39) intron probably benign
R0446:Rbfox2 UTSW 15 76,983,455 (GRCm39) missense probably damaging 0.98
R0731:Rbfox2 UTSW 15 76,983,479 (GRCm39) missense probably benign 0.21
R3013:Rbfox2 UTSW 15 77,017,120 (GRCm39) missense probably damaging 1.00
R3715:Rbfox2 UTSW 15 76,983,451 (GRCm39) missense probably damaging 0.97
R4094:Rbfox2 UTSW 15 77,016,925 (GRCm39) missense probably damaging 0.99
R4543:Rbfox2 UTSW 15 77,190,568 (GRCm39) missense probably benign 0.01
R4799:Rbfox2 UTSW 15 76,976,018 (GRCm39) missense probably benign 0.28
R6194:Rbfox2 UTSW 15 76,968,357 (GRCm39) missense possibly damaging 0.66
R7316:Rbfox2 UTSW 15 77,016,929 (GRCm39) missense possibly damaging 0.92
R7501:Rbfox2 UTSW 15 76,989,834 (GRCm39) missense probably benign 0.36
R8030:Rbfox2 UTSW 15 76,969,776 (GRCm39) critical splice donor site probably null
R8103:Rbfox2 UTSW 15 76,983,654 (GRCm39) missense probably damaging 1.00
R9093:Rbfox2 UTSW 15 77,190,658 (GRCm39) missense probably benign
RF027:Rbfox2 UTSW 15 77,016,973 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-11-12