Mutagenetix > Incidental Mutation

Incidental Mutation 'R5726:Fxr2'

452506

Institutional Source

Beutler Lab

Gene Symbol

Fxr2

Ensembl Gene

ENSMUSG00000018765

Gene Name

FMR1 autosomal homolog 2

Synonyms

Fxr2h

MMRRC Submission

043344-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.810) question?

Stock #

R5726 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

69523816-69544123 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69524172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 10 (V10A)

Ref Sequence

ENSEMBL: ENSMUSP00000018909 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000018909
AA Change: V10A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000018909
Gene: ENSMUSG00000018765
AA Change: V10A

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: ENSMUST00000116923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119889

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120440

Meta Mutation Damage Score

0.0610

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

100% (72/72)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	T	C	7: 127,835,832 (GRCm39)	K254E	probably damaging	Het
Aak1	C	T	6: 86,902,106 (GRCm39)	Q92*	probably null	Het
Acss3	T	C	10: 106,959,183 (GRCm39)	T88A	possibly damaging	Het
Adcy4	A	T	14: 56,021,118 (GRCm39)	S6R	probably damaging	Het
Aldh1l2	T	C	10: 83,348,170 (GRCm39)	E311G	possibly damaging	Het
Arhgap25	C	T	6: 87,440,441 (GRCm39)	S402N	probably benign	Het
Btn1a1	T	A	13: 23,643,522 (GRCm39)	D309V	probably damaging	Het
Cdh23	C	T	10: 60,243,259 (GRCm39)	V1037M	probably damaging	Het
Clcn2	T	C	16: 20,529,285 (GRCm39)		probably benign	Het
Cln3	T	C	7: 126,174,673 (GRCm39)	T276A	probably null	Het
CN725425	A	G	15: 91,144,706 (GRCm39)	E523G	possibly damaging	Het
Crppa	T	C	12: 36,597,829 (GRCm39)	V320A	probably damaging	Het
Cspg4	A	T	9: 56,793,188 (GRCm39)	T308S	probably damaging	Het
Dgkh	G	T	14: 78,862,342 (GRCm39)	F208L	probably benign	Het
Eif2ak4	A	G	2: 118,273,613 (GRCm39)	D846G	probably damaging	Het
Fmo4	A	G	1: 162,635,828 (GRCm39)		probably null	Het
Foxp4	A	G	17: 48,180,033 (GRCm39)	Y623H	unknown	Het
Gm10271	T	C	10: 116,792,792 (GRCm39)		probably null	Het
Gsk3b	T	C	16: 38,028,498 (GRCm39)		probably benign	Het
Ift43	T	A	12: 86,208,957 (GRCm39)	D169E	probably damaging	Het
Ift57	T	A	16: 49,519,861 (GRCm39)	L54H	probably damaging	Het
Ighv1-37	T	C	12: 114,860,294 (GRCm39)		probably benign	Het
Kl	A	G	5: 150,915,003 (GRCm39)	N910S	possibly damaging	Het
Lrp2	T	C	2: 69,339,491 (GRCm39)	D1140G	probably damaging	Het
Map1a	G	A	2: 121,135,546 (GRCm39)	A1883T	probably damaging	Het
Map4k2	G	T	19: 6,401,362 (GRCm39)	G611C	probably damaging	Het
Mical1	A	G	10: 41,359,692 (GRCm39)		probably benign	Het
Myh14	A	G	7: 44,292,886 (GRCm39)		probably null	Het
Myh8	T	A	11: 67,185,392 (GRCm39)	V881D	possibly damaging	Het
Myo1g	G	T	11: 6,459,420 (GRCm39)	Q817K	probably benign	Het
Nin	A	C	12: 70,124,953 (GRCm39)	V123G	probably damaging	Het
Nup160	A	G	2: 90,548,195 (GRCm39)	D976G	probably damaging	Het
Nup210l	A	T	3: 90,036,514 (GRCm39)		probably null	Het
Or5an1c	A	G	19: 12,218,644 (GRCm39)	I127T	probably damaging	Het
Phf14	T	C	6: 11,933,537 (GRCm39)		probably benign	Het
Podxl2	T	C	6: 88,825,721 (GRCm39)	D400G	probably damaging	Het
Pygl	C	T	12: 70,237,916 (GRCm39)	W707*	probably null	Het
Rnf19b	T	C	4: 128,965,685 (GRCm39)	V261A	possibly damaging	Het
Rnf213	A	G	11: 119,307,284 (GRCm39)	Y648C	probably damaging	Het
Scn5a	C	T	9: 119,362,913 (GRCm39)	R569H	probably damaging	Het
Sdk2	A	G	11: 113,742,626 (GRCm39)	L761P	probably damaging	Het
Shroom3	C	T	5: 93,090,864 (GRCm39)	P1124S	probably benign	Het
Sirt4	A	G	5: 115,617,705 (GRCm39)	V317A	probably benign	Het
Skic3	T	C	13: 76,266,466 (GRCm39)	Y238H	probably damaging	Het
Slc12a2	G	T	18: 58,029,426 (GRCm39)	A271S	probably benign	Het
Slc6a9	A	G	4: 117,721,210 (GRCm39)	Y208C	probably damaging	Het
Snap23	T	A	2: 120,414,752 (GRCm39)		probably benign	Het
Sra1	C	T	18: 36,803,226 (GRCm39)		probably benign	Het
Srbd1	C	T	17: 86,428,157 (GRCm39)	D359N	possibly damaging	Het
Srp19	A	G	18: 34,464,826 (GRCm39)	Y22C	probably damaging	Het
Sstr4	T	C	2: 148,238,003 (GRCm39)	S205P	probably damaging	Het
Sv2b	T	C	7: 74,773,962 (GRCm39)	D503G	possibly damaging	Het
Tbc1d30	C	T	10: 121,103,479 (GRCm39)	V518M	probably damaging	Het
Tlr4	A	G	4: 66,758,652 (GRCm39)	K482E	probably benign	Het
Tpm1	G	A	9: 66,930,694 (GRCm39)	L310F	probably damaging	Het
Trpm6	A	G	19: 18,830,981 (GRCm39)	Y1282C	probably damaging	Het
Tsc22d1	T	A	14: 76,742,757 (GRCm39)	L65*	probably null	Het
Ttc39c	C	A	18: 12,830,992 (GRCm39)	A284D	probably damaging	Het
Txndc16	G	A	14: 45,403,221 (GRCm39)	H297Y	probably benign	Het
Utrn	A	T	10: 12,545,550 (GRCm39)	D1698E	probably benign	Het
Vmn1r232	C	T	17: 21,133,601 (GRCm39)	R333H	probably benign	Het
Vmn2r14	A	T	5: 109,365,486 (GRCm39)	D529E	possibly damaging	Het
Vmn2r70	C	T	7: 85,208,315 (GRCm39)	V721I	probably damaging	Het
Zbtb18	A	G	1: 177,276,119 (GRCm39)	H484R	probably damaging	Het
Zc3h13	T	A	14: 75,568,269 (GRCm39)	S1187R	possibly damaging	Het
Zfhx4	T	A	3: 5,468,381 (GRCm39)	D2846E	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
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
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'- AGAATGTGGAAGCCCTGAC -3'
(R):5'- GTCGAAGGTTCTAAGGGTCAAG -3'

Sequencing Primer
(F):5'- TGGGTCGCTAGCCTAGAC -3'
(R):5'- GACCAAGCTCCAGAAACTCGATC -3'

Posted On

2017-01-03