Mutagenetix > Incidental Mutation

Incidental Mutation 'R6146:Fxr2'

488887

Institutional Source

Beutler Lab

Gene Symbol

Fxr2

Ensembl Gene

ENSMUSG00000018765

Gene Name

FMR1 autosomal homolog 2

Synonyms

Fxr2h

MMRRC Submission

044293-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.773) question?

Stock #

R6146 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69523816-69544123 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69532165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 96 (M96V)

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: M96V

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000018909
Gene: ENSMUSG00000018765
AA Change: M96V

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

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	G	5: 8,946,587 (GRCm39)	E29G	probably benign	Het
Abi3bp	T	C	16: 56,491,628 (GRCm39)	S552P	probably damaging	Het
Adgrg7	A	G	16: 56,593,829 (GRCm39)	I129T	probably benign	Het
Adhfe1	A	G	1: 9,623,943 (GRCm39)	N148S	probably damaging	Het
AI182371	A	G	2: 34,987,983 (GRCm39)	Y77H	probably damaging	Het
Aldh5a1	C	T	13: 25,103,661 (GRCm39)		probably null	Het
Ankrd2	A	G	19: 42,028,544 (GRCm39)	T67A	possibly damaging	Het
Anln	A	T	9: 22,287,604 (GRCm39)	C232*	probably null	Het
Cchcr1	A	G	17: 35,839,475 (GRCm39)	D587G	possibly damaging	Het
Cgn	G	T	3: 94,674,435 (GRCm39)	Q901K	possibly damaging	Het
Cip2a	A	T	16: 48,814,692 (GRCm39)	K18*	probably null	Het
Cluh	G	T	11: 74,558,054 (GRCm39)		probably null	Het
Crebbp	G	A	16: 3,902,487 (GRCm39)	Q2213*	probably null	Het
Cyp2d22	T	A	15: 82,258,036 (GRCm39)		probably null	Het
Dcdc2a	T	C	13: 25,389,440 (GRCm39)	V456A	probably benign	Het
Depdc5	A	G	5: 33,126,075 (GRCm39)	E569G	probably benign	Het
Dnah5	T	C	15: 28,459,331 (GRCm39)	F4517L	probably benign	Het
Doc2b	T	C	11: 75,664,421 (GRCm39)	K317E	probably damaging	Het
Dysf	T	A	6: 84,180,181 (GRCm39)	D1951E	probably damaging	Het
Epha6	C	A	16: 60,245,198 (GRCm39)	A334S	possibly damaging	Het
F2rl2	A	C	13: 95,837,149 (GRCm39)	I65L	probably benign	Het
Fbxw17	A	G	13: 50,586,548 (GRCm39)	K417E	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Kcnj10	C	A	1: 172,196,892 (GRCm39)	Y135*	probably null	Het
Kidins220	G	A	12: 25,102,812 (GRCm39)	R1238Q	probably damaging	Het
Krt31	T	C	11: 99,939,056 (GRCm39)	N255S	probably benign	Het
Lrp2	T	C	2: 69,341,345 (GRCm39)	D945G	probably benign	Het
Lrrc66	T	C	5: 73,765,432 (GRCm39)	D537G	probably benign	Het
Ltbp4	T	A	7: 27,019,149 (GRCm39)	I992F	probably damaging	Het
Lzts1	A	G	8: 69,593,524 (GRCm39)	S28P	probably benign	Het
Mrc2	C	A	11: 105,216,470 (GRCm39)	N86K	probably damaging	Het
Mroh6	C	A	15: 75,758,486 (GRCm39)	A302S	possibly damaging	Het
Muc16	T	A	9: 18,409,093 (GRCm39)	N198Y	probably damaging	Het
Myo9a	T	C	9: 59,778,512 (GRCm39)	S1423P	probably benign	Het
Or10ag58	A	T	2: 87,265,662 (GRCm39)	D277V	possibly damaging	Het
Or2b28	A	T	13: 21,531,164 (GRCm39)	Y22F	possibly damaging	Het
Or5h22	A	G	16: 58,895,077 (GRCm39)	V122A	probably benign	Het
Or5p56	G	T	7: 107,589,620 (GRCm39)	G16V	probably damaging	Het
Or5w17	A	C	2: 87,583,602 (GRCm39)	L245R	probably damaging	Het
Or9g4	T	A	2: 85,504,938 (GRCm39)	K186*	probably null	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Polg	T	C	7: 79,100,260 (GRCm39)	M1184V	probably benign	Het
Prl8a8	T	C	13: 27,694,463 (GRCm39)	Y108C	probably damaging	Het
Proser1	T	A	3: 53,385,540 (GRCm39)	I474N	probably damaging	Het
Rab44	A	G	17: 29,354,391 (GRCm39)		probably benign	Het
Rbp1	C	A	9: 98,307,669 (GRCm39)	D79E	possibly damaging	Het
Rnf213	T	C	11: 119,326,825 (GRCm39)	V1605A	probably benign	Het
Rps24	A	T	14: 24,540,803 (GRCm39)		probably null	Het
Setd5	T	C	6: 113,098,773 (GRCm39)		probably null	Het
Skic3	A	G	13: 76,333,359 (GRCm39)	E1536G	probably damaging	Het
Slc38a3	T	C	9: 107,532,228 (GRCm39)	I435V	probably benign	Het
Slco1a5	T	A	6: 142,180,534 (GRCm39)	M623L	probably benign	Het
Spaca9	G	A	2: 28,583,793 (GRCm39)	R64W	probably damaging	Het
Spn	A	G	7: 126,735,479 (GRCm39)	S343P	possibly damaging	Het
Sptan1	A	G	2: 29,894,535 (GRCm39)	T1168A	probably benign	Het
Sptbn4	A	T	7: 27,064,012 (GRCm39)	L2138*	probably null	Het
Tg	T	A	15: 66,545,216 (GRCm39)		probably null	Het
Tigd5	T	A	15: 75,782,094 (GRCm39)	L152Q	probably damaging	Het
Tmem163	C	T	1: 127,447,126 (GRCm39)	V170I	probably benign	Het
Tpr	T	C	1: 150,298,913 (GRCm39)	C1068R	possibly damaging	Het
Ubr1	A	T	2: 120,723,690 (GRCm39)	Y1290N	probably damaging	Het
Vmn1r184	T	A	7: 25,966,817 (GRCm39)	F188I	probably benign	Het
Vmn2r100	G	A	17: 19,742,522 (GRCm39)	V299I	probably benign	Het
Vmn2r91	T	G	17: 18,356,518 (GRCm39)	H728Q	probably benign	Het
Vta1	T	C	10: 14,581,096 (GRCm39)	Y37C	probably damaging	Het
Wbp2	C	A	11: 115,974,728 (GRCm39)	M35I	probably benign	Het
Zcchc9	G	A	13: 91,953,986 (GRCm39)	Q90*	probably null	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
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'- ACCCCATACTTTGAGTTGGTATC -3'
(R):5'- AGCTGCCTTTGGTTGCAAG -3'

Sequencing Primer
(F):5'- CATACTTTGAGTTGGTATCTCCTTG -3'
(R):5'- GGATTGACTGGCCGAAGTC -3'

Posted On

2017-10-10