Mutagenetix > Incidental Mutation

Incidental Mutation 'R0417:Fzd9'

40393

Institutional Source

Beutler Lab

Gene Symbol

Fzd9

Ensembl Gene

ENSMUSG00000049551

Gene Name

frizzled class receptor 9

Synonyms

mfz9, frizzled 9

MMRRC Submission

038619-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.400) question?

Stock #

R0417 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135248938-135251230 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 135249619 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 471 (R471S)

Ref Sequence

ENSEMBL: ENSMUSP00000053551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002825] [ENSMUST00000062572]

AlphaFold

Q9R216

Predicted Effect

probably benign
Transcript: ENSMUST00000002825

SMART Domains

Protein: ENSMUSP00000002825
Gene: ENSMUSG00000002748

Domain	Start	End	E-Value	Type
Pfam:WAC_Acf1_DNA_bd	21	120	2.6e-28	PFAM
low complexity region	312	335	N/A	INTRINSIC
low complexity region	386	397	N/A	INTRINSIC
low complexity region	453	468	N/A	INTRINSIC
low complexity region	482	493	N/A	INTRINSIC
coiled coil region	537	587	N/A	INTRINSIC
DDT	605	669	5.59e-17	SMART
Pfam:WHIM1	725	773	2.2e-9	PFAM
low complexity region	822	835	N/A	INTRINSIC
coiled coil region	854	890	N/A	INTRINSIC
Pfam:WHIM2	900	935	1.3e-10	PFAM
Pfam:WHIM3	991	1029	1.5e-16	PFAM
low complexity region	1131	1148	N/A	INTRINSIC
PHD	1186	1232	1.89e-14	SMART
RING	1187	1231	7.85e-2	SMART
low complexity region	1245	1277	N/A	INTRINSIC
BROMO	1333	1441	3.63e-37	SMART
low complexity region	1459	1472	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000062572
AA Change: R471S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000053551
Gene: ENSMUSG00000049551
AA Change: R471S

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
FRI	39	158	1.97e-73	SMART
low complexity region	177	195	N/A	INTRINSIC
Frizzled	222	548	4.64e-199	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD9 gene is located within the Williams syndrome common deletion region of chromosome 7, and heterozygous deletion of the FZD9 gene may contribute to the Williams syndrome phenotype. FZD9 is expressed predominantly in brain, testis, eye, skeletal muscle, and kidney. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one allele exhibit immune system abnormalities while another null allele causes neurological abnormalities. A third null mutation results in growth retardation and abnormalities in bone mineralization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700027J19Rik	A	G	7: 4,151,483	L102P	probably damaging	Het
1700030K09Rik	A	G	8: 72,445,400	K217R	probably damaging	Het
1810024B03Rik	A	G	2: 127,186,944	Y112H	probably damaging	Het
A430078G23Rik	T	C	8: 3,388,957		probably benign	Het
Acot2	T	C	12: 83,990,613	Y234H	probably benign	Het
Alox12e	C	T	11: 70,321,865	V53I	probably benign	Het
Ankrd50	T	C	3: 38,456,361	H619R	probably damaging	Het
Arfgef3	A	T	10: 18,603,511	L1452Q	probably damaging	Het
Arhgap42	T	C	9: 9,180,033	S82G	possibly damaging	Het
Bicra	C	A	7: 15,972,322	R1398L	probably damaging	Het
Boc	T	C	16: 44,520,234	T118A	probably benign	Het
Btnl9	A	G	11: 49,175,595	Y381H	probably damaging	Het
Cbln3	T	G	14: 55,884,129	E20A	probably benign	Het
Csrnp3	A	G	2: 66,019,543	Y171C	probably benign	Het
Cyp2d9	A	T	15: 82,455,951	I181F	probably damaging	Het
Cyp7b1	T	A	3: 18,096,691	T295S	probably damaging	Het
Dbn1	C	T	13: 55,474,916	E585K	probably damaging	Het
Dok1	A	T	6: 83,031,569	D377E	probably damaging	Het
Eed	A	T	7: 89,971,552	Y87*	probably null	Het
Entpd3	T	C	9: 120,557,421	V156A	probably damaging	Het
Exo5	T	A	4: 120,922,072	T199S	probably damaging	Het
Extl2	T	C	3: 116,024,357	I106T	probably benign	Het
Ezh2	A	G	6: 47,551,726	C291R	probably benign	Het
Flvcr1	A	T	1: 191,011,219	M466K	probably benign	Het
Fras1	G	T	5: 96,691,372	M1583I	probably benign	Het
Galr1	A	T	18: 82,405,540	F204Y	probably damaging	Het
Gm38394	A	T	1: 133,658,538	S354T	probably benign	Het
Gna11	A	T	10: 81,530,904	I324N	probably damaging	Het
Gucy1a2	A	G	9: 3,759,484	E430G	possibly damaging	Het
Hhatl	C	T	9: 121,788,762	A254T	probably benign	Het
Ikzf1	A	C	11: 11,769,352	N353T	probably benign	Het
Il7	T	A	3: 7,576,027	T110S	probably damaging	Het
Keg1	A	G	19: 12,711,060	N53D	probably damaging	Het
Klhl21	T	C	4: 152,015,507	I558T	probably damaging	Het
Lca5l	G	A	16: 96,162,653	T357M	probably damaging	Het
Lrba	T	C	3: 86,715,654	S2448P	probably damaging	Het
Map3k6	T	A	4: 133,248,082	Y709*	probably null	Het
Megf6	A	G	4: 154,267,967	E1261G	probably benign	Het
Mettl3	C	T	14: 52,296,698	G473D	probably damaging	Het
Mga	A	G	2: 119,902,790	I40V	probably damaging	Het
Mmp13	T	A	9: 7,276,602	D232E	probably benign	Het
Nampt	T	C	12: 32,833,101	V95A	probably benign	Het
Nbeal1	T	C	1: 60,247,734	V905A	probably benign	Het
Nomo1	A	T	7: 46,068,698	E840V	possibly damaging	Het
Nprl2	A	T	9: 107,543,298	I101F	probably damaging	Het
Nup160	A	T	2: 90,735,427	I1378F	possibly damaging	Het
Ogdhl	T	C	14: 32,326,979	S69P	probably damaging	Het
Olfr1105	A	T	2: 87,033,445	Y259N	probably damaging	Het
Olfr1240	C	A	2: 89,440,175	V35L	possibly damaging	Het
Olfr1283	A	G	2: 111,369,105	S158G	possibly damaging	Het
Olfr1390	T	A	11: 49,340,673	I47N	possibly damaging	Het
Olfr143	T	C	9: 38,253,864	F149S	probably benign	Het
Olfr870	G	A	9: 20,171,214	A119V	probably damaging	Het
Olfr894	A	G	9: 38,219,455	I211V	probably benign	Het
Osbpl3	C	T	6: 50,348,018	V167I	probably benign	Het
Pclo	T	A	5: 14,713,022	H3836Q	unknown	Het
Prkcg	A	T	7: 3,304,304		probably null	Het
Ror1	A	T	4: 100,412,000	H345L	possibly damaging	Het
Slc36a2	C	T	11: 55,181,544		probably null	Het
Slc40a1	G	A	1: 45,911,374	P306L	possibly damaging	Het
Slc9a8	C	A	2: 167,457,344	T239K	probably benign	Het
Snapc3	A	G	4: 83,450,162	I299V	probably benign	Het
Sp3	G	A	2: 72,971,501	A56V	possibly damaging	Het
Spag17	T	A	3: 100,065,554	S1361T	probably benign	Het
Sptbn2	A	G	19: 4,737,926	T978A	probably benign	Het
Stom	C	A	2: 35,321,632	V126F	probably damaging	Het
Stpg2	A	G	3: 139,218,321	T162A	probably damaging	Het
Stxbp6	G	A	12: 44,902,957	T63M	probably damaging	Het
Tatdn1	A	C	15: 58,921,350	I69S	probably benign	Het
Tbata	A	T	10: 61,180,339	D198V	probably damaging	Het
Tbc1d5	T	C	17: 50,756,705	I638V	probably benign	Het
Tomm70a	A	G	16: 57,149,903	D548G	probably benign	Het
Ust	A	G	10: 8,245,936	F303L	probably damaging	Het
Vps13d	A	G	4: 144,976,560	S4306P	probably benign	Het
Zfp691	A	G	4: 119,170,496	S180P	possibly damaging	Het

Other mutations in Fzd9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00915:Fzd9	APN	5	135249469	missense	probably damaging	1.00
IGL01446:Fzd9	APN	5	135250566	missense	probably damaging	1.00
IGL02510:Fzd9	APN	5	135249615	missense	probably damaging	1.00
alexei	UTSW	5	135250630	missense	probably damaging	1.00
Nicholas	UTSW	5	135250324	missense	possibly damaging	0.54
R0308:Fzd9	UTSW	5	135249406	missense	probably damaging	0.97
R1563:Fzd9	UTSW	5	135250554	missense	probably damaging	0.96
R1638:Fzd9	UTSW	5	135249748	missense	probably damaging	1.00
R1840:Fzd9	UTSW	5	135249571	missense	probably benign
R2046:Fzd9	UTSW	5	135249684	missense	probably damaging	1.00
R2268:Fzd9	UTSW	5	135250294	missense	probably damaging	1.00
R2898:Fzd9	UTSW	5	135249846	missense	probably damaging	1.00
R4078:Fzd9	UTSW	5	135249636	missense	probably benign	0.01
R4079:Fzd9	UTSW	5	135249636	missense	probably benign	0.01
R4576:Fzd9	UTSW	5	135250312	missense	probably damaging	1.00
R4662:Fzd9	UTSW	5	135249621	missense	probably damaging	1.00
R4956:Fzd9	UTSW	5	135249942	missense	probably damaging	1.00
R5096:Fzd9	UTSW	5	135249859	missense	probably damaging	0.96
R5227:Fzd9	UTSW	5	135249606	missense	probably benign	0.06
R5452:Fzd9	UTSW	5	135250860	missense	probably damaging	1.00
R5475:Fzd9	UTSW	5	135250269	splice site	probably null
R5888:Fzd9	UTSW	5	135249463	splice site	probably null
R5914:Fzd9	UTSW	5	135249345	missense	probably benign
R7148:Fzd9	UTSW	5	135249690	missense	probably benign	0.40
R7544:Fzd9	UTSW	5	135249862	missense	probably damaging	1.00
R7638:Fzd9	UTSW	5	135250630	missense	probably damaging	1.00
R8672:Fzd9	UTSW	5	135249670	missense	probably benign	0.02
R8893:Fzd9	UTSW	5	135250324	missense	possibly damaging	0.54
R8927:Fzd9	UTSW	5	135249735	missense	probably damaging	1.00
R8928:Fzd9	UTSW	5	135249735	missense	probably damaging	1.00
R9234:Fzd9	UTSW	5	135250686	missense	probably damaging	0.99
R9240:Fzd9	UTSW	5	135249958	missense	probably damaging	1.00
X0063:Fzd9	UTSW	5	135249721	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- ACAGGCTCTGCCAAGTCTGAAAAG -3'
(R):5'- GATGAACTGACTGGGCTCTGCTATG -3'

Sequencing Primer
(F):5'- GTCTGAAAAGTCTTGGAACTCC -3'
(R):5'- TATGTAGCCAGCATGGACCC -3'

Posted On

2013-05-23