Mutagenetix > Incidental Mutations

Incidental Mutation 'R6701:Frzb'

528719

Institutional Source

Beutler Lab

Gene Symbol

Frzb

Ensembl Gene

ENSMUSG00000027004

Gene Name

frizzled-related protein

Synonyms

Frp, fritz, frzb-1, Sfrp3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.471) question?

Stock #

R6701 (G1)

Quality Score

180.009

Status

Not validated

Chromosome

Chromosomal Location

80411970-80447625 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80446819 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 8 (R8W)

Ref Sequence

ENSEMBL: ENSMUSP00000028389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028389]

PDB Structure

CRYSTAL STRUCTURE OF THE CYSTEINE-RICH DOMAIN OF SECRETED FRIZZLED-RELATED PROTEIN 3 (SFRP-3;FZB) [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028389
AA Change: R8W

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028389
Gene: ENSMUSG00000027004
AA Change: R8W

Domain	Start	End	E-Value	Type
low complexity region	10	25	N/A	INTRINSIC
FRI	34	152	1.44e-66	SMART
C345C	187	292	3.8e-18	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 96.0%

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 secreted protein that is involved in the regulation of bone development. Defects in this gene are a cause of female-specific osteoarthritis (OA) susceptibility. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for one null allele display defects in motor coordination and capability and a decrease in thermal pain sensation. Mice homozygous for another null allele display enhanced reactive bone formation and cortical bone abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	A	T	10: 4,355,243	K684N	probably damaging	Het
Akna	C	T	4: 63,395,280	G202D	probably benign	Het
Alpk1	T	A	3: 127,729,336	D19V	probably damaging	Het
Arid4a	A	T	12: 71,087,512	K1196I	probably damaging	Het
Asic3	A	T	5: 24,414,129	M140L	possibly damaging	Het
BC055324	T	C	1: 163,971,843		probably null	Het
Bfsp2	C	T	9: 103,479,878	V117M	possibly damaging	Het
Cd244	C	A	1: 171,574,155	L150M	possibly damaging	Het
Cd3e	T	C	9: 45,001,053	Y131C	probably damaging	Het
Clptm1l	T	C	13: 73,608,906	I202T	probably benign	Het
Cnot4	G	T	6: 35,068,604	T224K	probably damaging	Het
Col24a1	A	G	3: 145,314,380	T171A	probably benign	Het
Col6a3	C	T	1: 90,792,462	R1552Q	probably benign	Het
Dcc	T	A	18: 71,809,120	T309S	probably benign	Het
Ddx21	T	C	10: 62,590,691	Y461C	probably damaging	Het
Dnah10	G	A	5: 124,760,159	V989M	probably benign	Het
Dppa4	A	T	16: 48,291,311	K220*	probably null	Het
Dysf	G	A	6: 84,112,190	G912S	probably damaging	Het
Efhb	A	T	17: 53,399,063	N815K	probably benign	Het
Eml6	T	A	11: 29,785,748	L1139F	probably damaging	Het
Eprs	T	G	1: 185,370,890	I78S	probably damaging	Het
Fat1	C	A	8: 44,950,681	S156R	probably damaging	Het
Guf1	T	A	5: 69,558,253	D47E	probably damaging	Het
Haus3	A	T	5: 34,167,734	F194I	probably damaging	Het
Hivep3	C	T	4: 120,094,540	R18W	probably damaging	Het
Hnf1b	A	G	11: 83,889,094	T392A	probably damaging	Het
Hsd17b1	C	A	11: 101,080,155	C312*	probably null	Het
Ighg2b	T	C	12: 113,307,079	T144A	unknown	Het
Iqub	T	A	6: 24,449,745	N707I	probably damaging	Het
Jhy	T	C	9: 40,917,591	R340G	probably damaging	Het
Klra3	C	G	6: 130,330,253	V144L	probably benign	Het
Lamp5	C	G	2: 136,059,563	N102K	possibly damaging	Het
Lrmp	G	T	6: 145,144,976	E61*	probably null	Het
Lrrc4	A	G	6: 28,830,906	F237L	possibly damaging	Het
Lyst	T	A	13: 13,681,485	C2464S	probably benign	Het
Maml1	T	C	11: 50,266,682	E222G	probably damaging	Het
Med15	C	T	16: 17,671,583		probably benign	Het
Naalad2	T	C	9: 18,385,148	I69V	probably null	Het
Neb	T	C	2: 52,291,208	K1129R	probably damaging	Het
Nsun6	A	T	2: 15,036,302	N159K	probably benign	Het
Nup153	A	T	13: 46,687,065	N1022K	probably benign	Het
Olfr1009	A	G	2: 85,722,331	K309E	probably benign	Het
Olfr1138	C	T	2: 87,737,409	R305K	probably benign	Het
Olfr389	T	C	11: 73,776,470	N286D	probably damaging	Het
Otof	T	A	5: 30,370,797	K1901*	probably null	Het
Pde1c	A	T	6: 56,181,700	Y136N	probably damaging	Het
Phc1	G	T	6: 122,325,774	N263K	probably damaging	Het
Plxna1	A	T	6: 89,319,448	D1871E	probably damaging	Het
Prdm6	T	A	18: 53,536,679	M123K	possibly damaging	Het
Ranbp17	T	C	11: 33,475,066	D430G	probably damaging	Het
Rsl24d1	C	A	9: 73,114,997	T287K	probably damaging	Het
Scn1a	G	A	2: 66,337,960	R101W	probably damaging	Het
Scn8a	A	G	15: 101,040,096	D1741G	probably damaging	Het
Serpinb1c	T	C	13: 32,896,941	Q53R	probably benign	Het
Serpinf2	C	T	11: 75,432,443	R479H	probably damaging	Het
Sis	T	A	3: 72,949,527	D448V	probably damaging	Het
Slc27a6	T	A	18: 58,579,875	D256E	probably benign	Het
Slc30a8	A	G	15: 52,331,574	Y243C	possibly damaging	Het
Slc35f5	T	C	1: 125,562,610	V103A	probably damaging	Het
Slc44a2	T	C	9: 21,320,853		probably null	Het
Slc7a9	T	C	7: 35,459,849	L327P	probably damaging	Het
Stat4	A	G	1: 52,102,974	Y660C	probably damaging	Het
Terb1	T	C	8: 104,472,756	T519A	possibly damaging	Het
Tonsl	A	T	15: 76,629,300	S1245T	probably damaging	Het
Ttn	A	T	2: 76,788,818	S16072R	probably damaging	Het
Ttn	A	T	2: 76,909,246	Y3650N	probably benign	Het
Uhrf1bp1	T	A	17: 27,887,357	C952*	probably null	Het
Uso1	T	C	5: 92,166,585	F117S	probably damaging	Het
Vmn1r211	T	C	13: 22,851,609	H296R	probably benign	Het
Vmn2r67	G	A	7: 85,152,815	P93S	probably damaging	Het
Xirp2	A	T	2: 67,516,225	I2937F	possibly damaging	Het
Zc2hc1c	C	A	12: 85,289,672		probably null	Het
Zfp12	T	C	5: 143,244,464	V182A	probably benign	Het
Zfp473	G	T	7: 44,732,794	A705D	possibly damaging	Het
Zfp937	G	T	2: 150,239,216	G389C	probably damaging	Het
Zfp990	A	G	4: 145,538,178	D582G	probably benign	Het

Other mutations in Frzb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01902:Frzb	APN	2	80413367	missense	probably damaging	0.97
IGL02492:Frzb	APN	2	80424591	splice site	probably benign
IGL02680:Frzb	APN	2	80424626	missense	possibly damaging	0.95
R1171:Frzb	UTSW	2	80438490	splice site	probably null
R1323:Frzb	UTSW	2	80413376	missense	probably benign	0.00
R1323:Frzb	UTSW	2	80413376	missense	probably benign	0.00
R1797:Frzb	UTSW	2	80446528	missense	possibly damaging	0.92
R1854:Frzb	UTSW	2	80446380	missense	possibly damaging	0.91
R1920:Frzb	UTSW	2	80446428	missense	probably damaging	0.98
R1961:Frzb	UTSW	2	80424601	missense	probably benign	0.30
R3086:Frzb	UTSW	2	80418514	missense	possibly damaging	0.87
R4738:Frzb	UTSW	2	80424597	critical splice donor site	probably null
R4916:Frzb	UTSW	2	80446527	missense	probably damaging	1.00
R5454:Frzb	UTSW	2	80417915	missense	probably damaging	0.97
R7211:Frzb	UTSW	2	80418325	nonsense	probably null
R7354:Frzb	UTSW	2	80446809	missense	probably damaging	1.00
R7687:Frzb	UTSW	2	80424635	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GCAAATGGGTGCGTACATTG -3'
(R):5'- TGGATCCAAGAGAACTGTGATTG -3'

Sequencing Primer
(F):5'- AACTGTTCCATGGCCAGGATG -3'
(R):5'- TCCAAGAGAACTGTGATTGTCCCAG -3'

Posted On

2018-07-24