Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01025:Fxr2'

60230

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fxr2

Ensembl Gene

ENSMUSG00000018765

Gene Name

FMR1 autosomal homolog 2

Synonyms

Fxr2h

Accession Numbers

Essential gene?

Probably essential (E-score: 0.773) question?

Stock #

IGL01025

Quality Score

Status

Chromosome

Chromosomal Location

69523816-69544123 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69534713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 198 (H198R)

Ref Sequence

ENSEMBL: ENSMUSP00000018909 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000018909
AA Change: H198R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000018909
Gene: ENSMUSG00000018765
AA Change: H198R

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: ENSMUST00000139605

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155513

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	G	A	4: 155,986,676 (GRCm39)	V335M	probably damaging	Het
Apex1	C	T	14: 51,163,711 (GRCm39)	L113F	possibly damaging	Het
Bltp1	T	A	3: 37,100,429 (GRCm39)	H1218Q	possibly damaging	Het
Cd33	C	T	7: 43,182,329 (GRCm39)	V39M	probably damaging	Het
Chek2	A	G	5: 110,996,536 (GRCm39)	D166G	probably damaging	Het
Col2a1	T	C	15: 97,874,054 (GRCm39)	K1376R	unknown	Het
Cpd	C	T	11: 76,686,439 (GRCm39)	R963H	probably damaging	Het
Cracd	A	G	5: 76,805,921 (GRCm39)		probably benign	Het
Cyp2c67	A	C	19: 39,628,376 (GRCm39)	Y189*	probably null	Het
Dock6	T	C	9: 21,723,103 (GRCm39)	E1606G	possibly damaging	Het
Dusp4	A	T	8: 35,285,666 (GRCm39)	E309V	probably benign	Het
Dync2h1	A	G	9: 7,162,789 (GRCm39)	I600T	probably damaging	Het
Fer1l4	A	G	2: 155,894,105 (GRCm39)	V66A	probably benign	Het
Fktn	T	C	4: 53,737,568 (GRCm39)	L269P	possibly damaging	Het
Ftsj3	A	G	11: 106,141,185 (GRCm39)	I645T	probably damaging	Het
Fzd7	T	C	1: 59,523,539 (GRCm39)	V474A	probably damaging	Het
Gm10295	T	A	7: 71,000,406 (GRCm39)	D58V	unknown	Het
Hdlbp	T	C	1: 93,357,891 (GRCm39)	I337V	probably benign	Het
Hydin	T	C	8: 111,053,033 (GRCm39)	V235A	probably benign	Het
Igfbp4	C	T	11: 98,939,069 (GRCm39)	H30Y	probably damaging	Het
Kcna4	T	C	2: 107,126,736 (GRCm39)	V490A	probably damaging	Het
Kcnj13	T	G	1: 87,314,700 (GRCm39)	D174A	probably benign	Het
Krt7	T	A	15: 101,321,302 (GRCm39)	L373Q	probably benign	Het
Lama3	G	A	18: 12,614,094 (GRCm39)	V1288I	probably benign	Het
Mroh9	T	C	1: 162,875,435 (GRCm39)	D488G	possibly damaging	Het
Myh7	T	C	14: 55,216,994 (GRCm39)	E1121G	probably damaging	Het
Myom1	A	G	17: 71,384,912 (GRCm39)	N768D	probably damaging	Het
Naa16	T	C	14: 79,622,196 (GRCm39)	T48A	probably damaging	Het
Naglu	C	T	11: 100,964,773 (GRCm39)	P287S	probably benign	Het
Nipbl	A	G	15: 8,379,939 (GRCm39)	V951A	possibly damaging	Het
Nlrp3	T	A	11: 59,442,713 (GRCm39)	M755K	probably benign	Het
Nlrp4e	T	C	7: 23,052,586 (GRCm39)		probably benign	Het
Nt5dc1	C	T	10: 34,283,553 (GRCm39)	A79T	possibly damaging	Het
Or10aa3	T	C	1: 173,878,251 (GRCm39)	F104S	probably damaging	Het
Or6c205	A	T	10: 129,086,609 (GRCm39)	I69F	possibly damaging	Het
Or8b47	A	G	9: 38,435,029 (GRCm39)		probably benign	Het
Otof	A	G	5: 30,541,597 (GRCm39)	L774P	possibly damaging	Het
Phf20l1	C	T	15: 66,484,981 (GRCm39)	R322C	probably damaging	Het
Pkhd1	C	T	1: 20,279,400 (GRCm39)	G2973R	probably benign	Het
Plekhg5	G	T	4: 152,192,983 (GRCm39)	D613Y	probably damaging	Het
Ppm1h	T	A	10: 122,714,534 (GRCm39)		probably null	Het
Pramel31	T	A	4: 144,089,947 (GRCm39)	L329Q	probably damaging	Het
Prpf39	T	C	12: 65,089,255 (GRCm39)		probably benign	Het
Rtn3	A	G	19: 7,460,406 (GRCm39)	S15P	unknown	Het
Slc22a28	G	T	19: 8,094,272 (GRCm39)		probably benign	Het
Slc4a5	T	A	6: 83,239,515 (GRCm39)	L143Q	probably damaging	Het
Sox17	T	C	1: 4,562,426 (GRCm39)	D130G	possibly damaging	Het
Stag1	A	G	9: 100,833,710 (GRCm39)	T1108A	possibly damaging	Het
Sugp2	G	A	8: 70,695,185 (GRCm39)	D53N	probably damaging	Het
Trim33	G	A	3: 103,261,234 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,629,568 (GRCm39)	I14291T	probably damaging	Het
Ttn	A	G	2: 76,619,869 (GRCm39)	V15933A	probably damaging	Het
Tulp3	A	C	6: 128,302,847 (GRCm39)	I324S	probably damaging	Het
Zfhx2	T	C	14: 55,301,717 (GRCm39)	E2089G	probably damaging	Het
Zhx1	T	C	15: 57,918,075 (GRCm39)	D57G	probably benign	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
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
R1344:Fxr2	UTSW	11	69,539,710 (GRCm39)	missense	possibly damaging	0.68
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

Posted On

2013-07-11