Mutagenetix > Incidental Mutation

Incidental Mutation 'R7501:Rbfox2'

581500

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

MMRRC Submission

045574-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.580) question?

Stock #

R7501 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76963190-77191204 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76989834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 231 (D231E)

Ref Sequence

ENSEMBL: ENSMUSP00000130739 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048145] [ENSMUST00000111581] [ENSMUST00000166610] [ENSMUST00000171751] [ENSMUST00000227314] [ENSMUST00000227533] [ENSMUST00000227930] [ENSMUST00000228087] [ENSMUST00000228558]

AlphaFold

Q8BP71

Predicted Effect

probably benign
Transcript: ENSMUST00000048145
AA Change: D231E

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000048056
Gene: ENSMUSG00000033565
AA Change: D231E

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000111581
AA Change: D163E

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000129372
Gene: ENSMUSG00000033565
AA Change: D163E

Domain	Start	End	E-Value	Type
low complexity region	23	39	N/A	INTRINSIC
low complexity region	71	82	N/A	INTRINSIC
low complexity region	88	110	N/A	INTRINSIC
RRM	113	184	1.77e-24	SMART
Pfam:Fox-1_C	252	350	3.7e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166610
AA Change: D163E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000130673
Gene: ENSMUSG00000033565
AA Change: D163E

Domain	Start	End	E-Value	Type
low complexity region	23	39	N/A	INTRINSIC
low complexity region	71	82	N/A	INTRINSIC
low complexity region	88	110	N/A	INTRINSIC
RRM	113	184	1.77e-24	SMART
Pfam:Fox-1_C	255	353	6.2e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171751
AA Change: D231E

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000130739
Gene: ENSMUSG00000033565
AA Change: D231E

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000227314
AA Change: D163E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000227533

Predicted Effect

probably benign
Transcript: ENSMUST00000227930

Predicted Effect

probably benign
Transcript: ENSMUST00000228087
AA Change: D163E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228558
AA Change: D185E

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.5066

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	A	G	3: 36,142,974 (GRCm39)	N503S	probably benign	Het
Adam1a	C	T	5: 121,657,011 (GRCm39)	A761T	possibly damaging	Het
Amn1	C	T	6: 149,086,529 (GRCm39)	M44I	probably benign	Het
Ankrd44	T	C	1: 54,688,522 (GRCm39)	E238G		Het
Ap3b2	A	T	7: 81,123,194 (GRCm39)	I440K	probably damaging	Het
Atp2a1	G	A	7: 126,049,344 (GRCm39)	T566I	probably benign	Het
B3galnt1	T	C	3: 69,482,632 (GRCm39)	I210V	probably benign	Het
Bag5	T	C	12: 111,676,722 (GRCm39)	K367R	probably benign	Het
Cdc25b	T	C	2: 131,036,080 (GRCm39)	Y410H	probably damaging	Het
Cgref1	G	T	5: 31,102,800 (GRCm39)	P7Q	probably damaging	Het
Cnot6	T	C	11: 49,576,159 (GRCm39)	I136V	probably benign	Het
Comp	A	G	8: 70,832,059 (GRCm39)	D500G	possibly damaging	Het
Dnah7b	T	C	1: 46,395,714 (GRCm39)	L3872P	probably damaging	Het
Dync2h1	A	T	9: 7,175,336 (GRCm39)	L91Q	possibly damaging	Het
Fancd2	T	C	6: 113,525,364 (GRCm39)	V280A	possibly damaging	Het
Fat4	T	A	3: 39,012,597 (GRCm39)	Y2297*	probably null	Het
Fem1c	A	T	18: 46,638,868 (GRCm39)	M378K	probably damaging	Het
Gata6	A	G	18: 11,054,082 (GRCm39)	T4A	probably damaging	Het
Gatb	G	C	3: 85,544,297 (GRCm39)	V422L	probably damaging	Het
Gfpt1	T	A	6: 87,059,508 (GRCm39)	D510E	probably benign	Het
Gria4	A	T	9: 4,502,436 (GRCm39)	Y366N	probably benign	Het
Gucy1b1	T	C	3: 81,942,666 (GRCm39)	H492R	probably damaging	Het
H2bc6	A	G	13: 23,769,776 (GRCm39)	I55T	possibly damaging	Het
Hecw2	T	C	1: 53,953,031 (GRCm39)		probably null	Het
Hnrnph1	A	C	11: 50,270,383 (GRCm39)	E62D	probably benign	Het
Itga2	A	G	13: 115,012,095 (GRCm39)	V274A	probably damaging	Het
Kdm5d	T	A	Y: 941,488 (GRCm39)	W1230R	probably damaging	Het
Lctl	A	T	9: 64,038,861 (GRCm39)	M317L	probably benign	Het
Lrp6	T	C	6: 134,463,471 (GRCm39)	D570G	probably damaging	Het
Lrrc9	G	T	12: 72,496,490 (GRCm39)	M39I	probably damaging	Het
Ltbp2	A	T	12: 84,877,419 (GRCm39)	I402N	probably damaging	Het
Mst1	G	A	9: 107,959,748 (GRCm39)	G297D	probably damaging	Het
Muc6	G	C	7: 141,217,659 (GRCm39)	P2338R	probably damaging	Het
Nbr1	G	A	11: 101,457,026 (GRCm39)	R163Q	probably damaging	Het
Nlrp4f	A	G	13: 65,342,143 (GRCm39)	F501L	probably damaging	Het
Nup133	A	C	8: 124,649,153 (GRCm39)	I563S	probably benign	Het
Oacyl	T	G	18: 65,858,369 (GRCm39)		probably null	Het
Oog4	CAA	CA	4: 143,164,022 (GRCm39)		probably null	Het
Plxna2	C	T	1: 194,326,203 (GRCm39)	R46C	possibly damaging	Het
Ppp1r26	T	A	2: 28,340,749 (GRCm39)	D126E	probably damaging	Het
Prl6a1	A	T	13: 27,500,282 (GRCm39)	R84S	possibly damaging	Het
Ptprz1	C	T	6: 23,001,746 (GRCm39)	Q1279*	probably null	Het
Ptx4	C	T	17: 25,344,166 (GRCm39)	T472I	possibly damaging	Het
Rabgap1l	A	G	1: 160,528,358 (GRCm39)	V416A	probably damaging	Het
Reln	A	T	5: 22,432,636 (GRCm39)	F121L	possibly damaging	Het
Rfx7	G	A	9: 72,524,054 (GRCm39)	V415I	probably benign	Het
Scaf4	A	T	16: 90,026,964 (GRCm39)	M951K	unknown	Het
Sdf4	T	C	4: 156,080,977 (GRCm39)		probably null	Het
Sec16a	T	C	2: 26,331,863 (GRCm39)	T51A	probably damaging	Het
Sema3a	A	G	5: 13,607,008 (GRCm39)	N281S	probably damaging	Het
Snai2	G	A	16: 14,524,754 (GRCm39)	V87I	possibly damaging	Het
Spata31f1e	T	C	4: 42,791,357 (GRCm39)	E925G	probably damaging	Het
Synj2	T	A	17: 6,040,514 (GRCm39)	S197T	possibly damaging	Het
Syt6	A	T	3: 103,495,018 (GRCm39)	M328L	probably benign	Het
Tdrd12	A	G	7: 35,177,516 (GRCm39)	V946A	unknown	Het
Trat1	A	T	16: 48,574,657 (GRCm39)		probably null	Het
Vmn1r75	T	A	7: 11,614,997 (GRCm39)	I243K	possibly damaging	Het
Vmn2r83	G	A	10: 79,327,771 (GRCm39)	C793Y	probably damaging	Het
Wnt9a	G	A	11: 59,219,583 (GRCm39)	G203D	probably damaging	Het
Xrn2	T	C	2: 146,871,676 (GRCm39)	I366T	probably damaging	Het
Zfp280d	A	G	9: 72,269,224 (GRCm39)	D787G	possibly damaging	Het
Zfp706	T	C	15: 37,002,169 (GRCm39)	T53A	probably damaging	Het

Other mutations in Rbfox2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R7687:Rbfox2	UTSW	15	77,190,694 (GRCm39)	missense	unknown
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
(F):5'- AAACATGAACAGGTGTGCACAC -3'
(R):5'- CTTGGTCTGGCCTCACATAC -3'

Sequencing Primer
(F):5'- TGCACACATGGACAGGAC -3'
(R):5'- TGCATGGATCAAAAATGTGCC -3'

Posted On

2019-10-17