Mutagenetix > Incidental Mutation

Incidental Mutation 'R6195:Fxr2'

502868

Institutional Source

Beutler Lab

Gene Symbol

Fxr2

Ensembl Gene

ENSMUSG00000018765

Gene Name

FMR1 autosomal homolog 2

Synonyms

Fxr2h

MMRRC Submission

044335-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.773) question?

Stock #

R6195 (G1)

Quality Score

168.009

Status

Validated

Chromosome

Chromosomal Location

69523816-69544123 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 69543099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 632 (T632M)

Ref Sequence

ENSEMBL: ENSMUSP00000018909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018905] [ENSMUST00000018909] [ENSMUST00000047373] [ENSMUST00000155200] [ENSMUST00000148242]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000018905

SMART Domains

Protein: ENSMUSP00000018905
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	38	50	N/A	INTRINSIC
CTNS	56	87	1.69e-6	SMART
low complexity region	141	157	N/A	INTRINSIC
CTNS	167	198	5.56e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000018909
AA Change: T632M

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000018909
Gene: ENSMUSG00000018765
AA Change: T632M

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

probably benign
Transcript: ENSMUST00000047373

SMART Domains

Protein: ENSMUSP00000048524
Gene: ENSMUSG00000041287

Domain	Start	End	E-Value	Type
low complexity region	31	45	N/A	INTRINSIC
HMG	46	116	6.83e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125389

SMART Domains

Protein: ENSMUSP00000129025
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	21	33	N/A	INTRINSIC
CTNS	39	70	1.69e-6	SMART
low complexity region	89	104	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125586

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125989

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127118

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149764

Predicted Effect

probably benign
Transcript: ENSMUST00000155200

SMART Domains

Protein: ENSMUSP00000117715
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	38	50	N/A	INTRINSIC
CTNS	56	87	1.69e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132742

Predicted Effect

probably benign
Transcript: ENSMUST00000129224

SMART Domains

Protein: ENSMUSP00000120001
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	36	48	N/A	INTRINSIC
CTNS	54	85	1.69e-6	SMART
low complexity region	138	163	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139605

Predicted Effect

probably benign
Transcript: ENSMUST00000148242

SMART Domains

Protein: ENSMUSP00000133074
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	38	50	N/A	INTRINSIC
CTNS	56	87	1.69e-6	SMART
low complexity region	98	109	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

97% (76/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	G	1: 192,857,142 (GRCm39)		probably null	Het
Aadacl2fm2	G	A	3: 59,659,623 (GRCm39)	V359I	probably damaging	Het
Abtb1	T	C	6: 88,817,718 (GRCm39)	E50G	probably benign	Het
Agbl2	T	A	2: 90,643,657 (GRCm39)	D792E	probably benign	Het
Aoc1	C	A	6: 48,885,611 (GRCm39)	N705K	probably damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Arhgef7	C	T	8: 11,872,017 (GRCm39)	T701I	probably damaging	Het
Atg10	G	T	13: 91,356,555 (GRCm39)		probably null	Het
Atp5f1c	T	C	2: 10,068,926 (GRCm39)	I116M	possibly damaging	Het
Baz2b	T	A	2: 59,737,855 (GRCm39)	Q1818L	possibly damaging	Het
Bod1	A	G	11: 31,616,740 (GRCm39)	*174Q	probably null	Het
Cacna1a	A	G	8: 85,315,382 (GRCm39)	Y1539C	probably damaging	Het
Creb3	A	G	4: 43,566,346 (GRCm39)	D260G	probably benign	Het
Cyp1b1	G	T	17: 80,021,695 (GRCm39)	L16M	probably damaging	Het
Dhx29	T	A	13: 113,101,071 (GRCm39)	S1205T	probably benign	Het
Dlec1	A	G	9: 118,966,321 (GRCm39)	K1097E	probably benign	Het
Dnah7b	G	A	1: 46,243,429 (GRCm39)	D1578N	probably damaging	Het
Dok3	T	C	13: 55,671,389 (GRCm39)	N394S	probably benign	Het
Dpcd	A	G	19: 45,565,458 (GRCm39)	D144G	probably damaging	Het
Efhb	A	G	17: 53,769,580 (GRCm39)	F243S	possibly damaging	Het
Eif2ak2	A	T	17: 79,178,662 (GRCm39)	Y137*	probably null	Het
Eif4e1b	A	G	13: 54,932,018 (GRCm39)	N34S	probably null	Het
F2rl3	A	G	8: 73,489,513 (GRCm39)	T247A	probably benign	Het
Fan1	A	T	7: 64,004,119 (GRCm39)	H782Q	probably damaging	Het
Fer1l5	T	C	1: 36,414,367 (GRCm39)		probably null	Het
Fer1l6	T	C	15: 58,509,806 (GRCm39)	S1423P	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fgfbp1	T	C	5: 44,136,704 (GRCm39)	D196G	possibly damaging	Het
Fxn	G	A	19: 24,239,407 (GRCm39)	R162C	probably damaging	Het
Gab1	A	T	8: 81,606,161 (GRCm39)	Y24*	probably null	Het
Gcc2	T	C	10: 58,106,806 (GRCm39)	S681P	probably damaging	Het
Git2	T	C	5: 114,905,175 (GRCm39)	N94S	probably benign	Het
Gm5799	T	G	14: 43,782,088 (GRCm39)	L87V	probably damaging	Het
Golga7b	A	T	19: 42,251,886 (GRCm39)	D44V	probably benign	Het
Hace1	T	A	10: 45,546,539 (GRCm39)	I391N	possibly damaging	Het
Hmcn2	T	C	2: 31,274,127 (GRCm39)	S1416P	probably damaging	Het
Hoxa11	G	A	6: 52,222,681 (GRCm39)	R7C	probably damaging	Het
Igkv14-126	A	T	6: 67,873,475 (GRCm39)	T68S	possibly damaging	Het
Insyn2a	T	C	7: 134,520,377 (GRCm39)	D51G	probably damaging	Het
Itpr3	T	C	17: 27,305,934 (GRCm39)	I164T	probably damaging	Het
Kif22	A	G	7: 126,628,131 (GRCm39)	S540P	probably damaging	Het
Ldlr	T	A	9: 21,643,077 (GRCm39)	C34*	probably null	Het
Lrrtm4	T	C	6: 79,998,939 (GRCm39)	L117P	probably damaging	Het
Mad2l1	G	T	6: 66,514,612 (GRCm39)	G94C	possibly damaging	Het
Malrd1	C	A	2: 15,700,137 (GRCm39)	H661Q	probably damaging	Het
Mical3	T	A	6: 120,993,796 (GRCm39)		probably benign	Het
Mipep	T	A	14: 61,109,554 (GRCm39)	W644R	probably damaging	Het
Mycl	A	G	4: 122,893,713 (GRCm39)	D171G	probably damaging	Het
Myof	A	G	19: 37,901,805 (GRCm39)	F997L	possibly damaging	Het
Nagpa	C	T	16: 5,021,613 (GRCm39)	R46H	probably damaging	Het
Nf1	A	G	11: 79,456,801 (GRCm39)	Y629C	probably damaging	Het
Obscn	T	A	11: 58,888,033 (GRCm39)	E2164V	probably damaging	Het
Or52h1	A	T	7: 103,828,961 (GRCm39)	V218D	possibly damaging	Het
Or5ac23	A	G	16: 59,149,785 (GRCm39)	V29A	possibly damaging	Het
Or5w19	T	C	2: 87,698,904 (GRCm39)	S190P	possibly damaging	Het
Or8k25	T	C	2: 86,243,551 (GRCm39)	I282V	probably damaging	Het
Pcdh20	T	C	14: 88,705,488 (GRCm39)	E604G	probably benign	Het
Pcdhb7	G	A	18: 37,475,709 (GRCm39)	V282I	probably benign	Het
Pcnx4	A	G	12: 72,603,648 (GRCm39)	D523G	possibly damaging	Het
Pigx	G	A	16: 31,903,404 (GRCm39)	T219I	probably damaging	Het
Plch1	G	T	3: 63,648,210 (GRCm39)	P399Q	probably damaging	Het
Pvrig-ps	T	A	5: 138,340,537 (GRCm39)	F74I	possibly damaging	Het
Rsrp1	T	A	4: 134,654,113 (GRCm39)	I255K	probably damaging	Het
Scn1a	T	A	2: 66,107,962 (GRCm39)	Y1588F	possibly damaging	Het
Serpina9	T	A	12: 103,967,666 (GRCm39)	H243L	probably damaging	Het
Tapbp	T	C	17: 34,138,956 (GRCm39)	L41P	probably damaging	Het
Tbc1d16	T	A	11: 119,101,391 (GRCm39)	K40*	probably null	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tbc1d23	T	C	16: 57,051,713 (GRCm39)	E6G	possibly damaging	Het
Tdrd6	A	G	17: 43,940,643 (GRCm39)	V135A	probably damaging	Het
Tmem87a	A	T	2: 120,222,656 (GRCm39)		probably null	Het
Tnrc18	T	A	5: 142,750,928 (GRCm39)	K1217N	unknown	Het
Trim33	G	A	3: 103,244,848 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,567,997 (GRCm39)	Y27632F	probably benign	Het
Tubgcp6	A	T	15: 89,006,994 (GRCm39)	D9E	probably benign	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Zfp655	T	A	5: 145,180,572 (GRCm39)	F143L	possibly 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
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
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'- GAATTGGAGCCTTTCTGGAACTAAG -3'
(R):5'- TGTGCTCAATCACCACCAGC -3'

Sequencing Primer
(F):5'- CTAAGATGAAATGTCTCATTGGCTGG -3'
(R):5'- GTGCCGGCTCTGCTCTAC -3'

Posted On

2018-02-27