Mutagenetix > Incidental Mutation

Incidental Mutation 'R1344:Fxr2'

200752

Institutional Source

Beutler Lab

Gene Symbol

Fxr2

Ensembl Gene

ENSMUSG00000018765

Gene Name

FMR1 autosomal homolog 2

Synonyms

Fxr2h

MMRRC Submission

039409-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.773) question?

Stock #

R1344 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69523816-69544123 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69539710 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 247 (H247R)

Ref Sequence

ENSEMBL: ENSMUSP00000018909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018909]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018909
AA Change: H247R

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000018909
Gene: ENSMUSG00000018765
AA Change: H247R

Domain	Start	End	E-Value	Type
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

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.2%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	T	G	6: 52,156,131 (GRCm39)		probably benign	Het
Aco1	T	C	4: 40,179,008 (GRCm39)	Y336H	probably damaging	Het
Adamts12	T	A	15: 11,286,890 (GRCm39)	W832R	probably damaging	Het
Asxl2	A	G	12: 3,543,790 (GRCm39)	K320E	probably damaging	Het
Atrnl1	G	A	19: 57,924,137 (GRCm39)		probably null	Het
B4galnt2	A	C	11: 95,760,181 (GRCm39)	I282S	probably benign	Het
Bcl2l13	T	C	6: 120,853,288 (GRCm39)	I191T	probably benign	Het
Bltp3a	A	G	17: 28,113,551 (GRCm39)	K1241R	probably benign	Het
Cd101	A	T	3: 100,926,091 (GRCm39)	Y209*	probably null	Het
Cd109	A	T	9: 78,579,832 (GRCm39)		probably null	Het
Cdc34	G	A	10: 79,521,134 (GRCm39)	A128T	probably damaging	Het
Cdk12	T	A	11: 98,132,611 (GRCm39)	S1013R	unknown	Het
Cntd1	T	A	11: 101,176,566 (GRCm39)	L221Q	possibly damaging	Het
Cntn4	G	A	6: 106,321,831 (GRCm39)		probably null	Het
Col12a1	T	A	9: 79,606,837 (GRCm39)	K529*	probably null	Het
Col17a1	T	A	19: 47,659,944 (GRCm39)	D336V	probably damaging	Het
Creb3l4	A	G	3: 90,146,045 (GRCm39)	I193T	possibly damaging	Het
Cyp2d10	A	T	15: 82,290,106 (GRCm39)		probably null	Het
Dcun1d3	A	G	7: 119,457,158 (GRCm39)	F185L	probably damaging	Het
Dlec1	G	A	9: 118,959,085 (GRCm39)	E910K	probably benign	Het
Dnajc19	T	A	3: 34,112,161 (GRCm39)	N128I	probably damaging	Het
Dusp1	A	G	17: 26,727,293 (GRCm39)	V2A	probably benign	Het
Eea1	G	A	10: 95,830,861 (GRCm39)		probably null	Het
Elf1	T	C	14: 79,798,215 (GRCm39)	V34A	probably damaging	Het
Extl1	T	C	4: 134,086,552 (GRCm39)	D501G	probably damaging	Het
Fcgr2b	T	C	1: 170,788,650 (GRCm39)	Y319C	probably damaging	Het
Fhip2a	G	A	19: 57,359,594 (GRCm39)	A45T	possibly damaging	Het
Gask1a	A	T	9: 121,807,452 (GRCm39)	H532L	probably damaging	Het
Gfra1	A	C	19: 58,226,849 (GRCm39)	S461A	possibly damaging	Het
Gli2	T	G	1: 118,769,666 (GRCm39)	I629L	probably damaging	Het
Gpx3	G	A	11: 54,800,422 (GRCm39)	V207I	probably damaging	Het
Helz2	T	C	2: 180,879,389 (GRCm39)	D743G	possibly damaging	Het
Hormad2	A	G	11: 4,359,005 (GRCm39)		probably null	Het
Ifitm1	C	T	7: 140,548,263 (GRCm39)	T32M	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Lrit2	A	G	14: 36,790,513 (GRCm39)	N64S	probably benign	Het
Lsm14a	A	T	7: 34,052,982 (GRCm39)	D322E	probably damaging	Het
Macf1	T	G	4: 123,327,246 (GRCm39)	R4752S	probably damaging	Het
Mark3	T	C	12: 111,594,271 (GRCm39)	I307T	possibly damaging	Het
Mpdz	T	A	4: 81,226,556 (GRCm39)	T1360S	probably benign	Het
Mtif2	G	A	11: 29,495,002 (GRCm39)	V701I	probably benign	Het
Myh3	A	G	11: 66,983,158 (GRCm39)	E895G	probably benign	Het
Ncan	A	C	8: 70,560,819 (GRCm39)	I716R	probably benign	Het
Ncor2	C	T	5: 125,102,510 (GRCm39)	R1867K	probably damaging	Het
Oas1d	C	T	5: 121,052,959 (GRCm39)	L5F	probably damaging	Het
Or10s1	T	A	9: 39,985,768 (GRCm39)	L59H	probably damaging	Het
Or11h4b	T	A	14: 50,918,315 (GRCm39)	M259L	probably benign	Het
Or13a17	T	C	7: 140,271,712 (GRCm39)	V298A	probably damaging	Het
Or3a4	A	T	11: 73,945,038 (GRCm39)	C182*	probably null	Het
Otog	G	T	7: 45,924,039 (GRCm39)	A1133S	probably damaging	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Pcdhb2	G	A	18: 37,428,710 (GRCm39)	V228I	possibly damaging	Het
Pdcd11	A	G	19: 47,118,516 (GRCm39)	D1794G	probably damaging	Het
Pde1c	T	C	6: 56,338,752 (GRCm39)	I27V	probably benign	Het
Pde4d	C	A	13: 110,086,921 (GRCm39)	S609*	probably null	Het
Piezo2	T	A	18: 63,154,325 (GRCm39)	I2485F	probably damaging	Het
Plekhd1	A	G	12: 80,739,659 (GRCm39)	T3A	probably benign	Het
Plscr1	C	T	9: 92,141,357 (GRCm39)	T15I	unknown	Het
Rd3	T	C	1: 191,717,262 (GRCm39)	*106R	probably null	Het
Rnf125	A	G	18: 21,114,288 (GRCm39)	I97V	possibly damaging	Het
Sec24b	T	C	3: 129,801,072 (GRCm39)	N408S	probably damaging	Het
Sf3b3	G	C	8: 111,564,935 (GRCm39)	A291G	probably damaging	Het
Simc1	T	C	13: 54,698,292 (GRCm39)	V403A	probably damaging	Het
Slc38a9	T	C	13: 112,826,714 (GRCm39)	C151R	probably benign	Het
Slco1a8	A	G	6: 141,931,344 (GRCm39)	S474P	probably damaging	Het
Slitrk5	A	G	14: 111,917,821 (GRCm39)	S482G	probably benign	Het
Smyd1	G	A	6: 71,239,151 (GRCm39)	T13I	probably benign	Het
Speer4a3	T	A	5: 26,158,107 (GRCm39)	T82S	probably benign	Het
Stoml2	T	A	4: 43,028,197 (GRCm39)	I344F	probably benign	Het
Tet1	C	T	10: 62,650,300 (GRCm39)	R1636H	probably damaging	Het
Thap12	A	G	7: 98,366,037 (GRCm39)	D735G	probably damaging	Het
Tnip3	T	C	6: 65,574,413 (GRCm39)	V88A	probably benign	Het
Ttn	A	G	2: 76,565,755 (GRCm39)	V28199A	possibly damaging	Het
Ube3b	T	C	5: 114,556,636 (GRCm39)	F989S	probably damaging	Het
Ubox5	A	G	2: 130,442,210 (GRCm39)	L159P	probably damaging	Het
Uevld	A	T	7: 46,587,758 (GRCm39)	V314E	possibly damaging	Het
Urb1	T	C	16: 90,566,354 (GRCm39)	M1478V	probably damaging	Het
Ust	C	A	10: 8,173,954 (GRCm39)	V184F	possibly damaging	Het
Wdr95	G	A	5: 149,511,563 (GRCm39)	C421Y	probably damaging	Het

Other mutations in Fxr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL01154:Fxr2	APN	11	69,532,259 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AGTTTCAGTGGCTAGGCAAACTGC -3'
(R):5'- GTCAGGCTGGAAGGTCACCATAAC -3'

Sequencing Primer
(F):5'- TCTTTCATAGGAGTTTTCTTCACAC -3'
(R):5'- TGGAAGGTCACCATAACTTCAG -3'

Posted On

2014-05-23