Mutagenetix > Incidental Mutations

Incidental Mutation 'R4079:Fzd9'

316746

Institutional Source

Beutler Lab

Gene Symbol

Fzd9

Ensembl Gene

ENSMUSG00000049551

Gene Name

frizzled class receptor 9

Synonyms

mfz9, frizzled 9

MMRRC Submission

040976-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

R4079 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135248938-135251230 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135249636 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 465 (V465A)

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 benign
Transcript: ENSMUST00000062572
AA Change: V465A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000053551
Gene: ENSMUSG00000049551
AA Change: V465A

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

Meta Mutation Damage Score

0.0970

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (73/75)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	C	G	4: 126,353,680		probably null	Het
Ankfy1	C	A	11: 72,690,009		probably benign	Het
Ap4b1	T	A	3: 103,813,378	N121K	probably damaging	Het
Arhgef12	T	C	9: 42,975,292	M1131V	probably damaging	Het
Arl5c	A	T	11: 97,993,501	I88N	probably damaging	Het
Armc9	A	T	1: 86,213,129		probably benign	Het
Bnc1	T	C	7: 81,973,760	E573G	probably damaging	Het
Btaf1	A	G	19: 36,986,479	T817A	probably benign	Het
C3	C	T	17: 57,205,303	D1542N	possibly damaging	Het
Cadm3	A	G	1: 173,341,669	V293A	probably benign	Het
Cadps	C	T	14: 12,457,702	A1060T	probably benign	Het
Cbfa2t3	A	G	8: 122,647,695		probably null	Het
Ccdc18	C	T	5: 108,158,528	Q270*	probably null	Het
Cdc45	A	T	16: 18,811,360	V19D	probably damaging	Het
Cfap57	C	A	4: 118,598,997	S500I	probably benign	Het
Cnga3	A	T	1: 37,241,865	Q47L	possibly damaging	Het
Corin	T	C	5: 72,503,883	D89G	probably benign	Het
Cox16	A	T	12: 81,474,335		probably benign	Het
Cyp2a4	A	G	7: 26,307,366	N50S	probably benign	Het
Diaph1	T	A	18: 37,853,583	E1116D	possibly damaging	Het
Dlg5	T	C	14: 24,148,260	D1535G	possibly damaging	Het
Enpp1	A	G	10: 24,669,007		probably null	Het
F13b	T	A	1: 139,501,770	F9I	unknown	Het
Fcer1a	C	T	1: 173,225,353	C36Y	probably damaging	Het
Fcho2	A	G	13: 98,755,612	V318A	probably damaging	Het
Gm10354	A	T	5: 14,977,649	L71Q	probably damaging	Het
Hbs1l	T	C	10: 21,352,602	V493A	probably damaging	Het
Hgs	T	A	11: 120,483,048	S723T	probably benign	Het
Hnrnpul1	C	T	7: 25,726,875	R517Q	probably damaging	Het
Kpna7	A	G	5: 145,005,927	I83T	possibly damaging	Het
Llgl1	C	A	11: 60,710,284		probably null	Het
Lrig3	A	C	10: 126,009,787	E695A	probably damaging	Het
Lrpap1	A	G	5: 35,096,037	I261T	possibly damaging	Het
Mfn1	T	G	3: 32,542,849	L152W	probably damaging	Het
Mog	A	G	17: 37,012,410	F212S	probably damaging	Het
Mpeg1	A	G	19: 12,462,270	N364S	probably damaging	Het
Mtmr3	C	T	11: 4,491,057	R531Q	probably damaging	Het
Mx2	A	G	16: 97,556,036	N443S	probably damaging	Het
Nfatc3	T	C	8: 106,079,491	Y323H	probably damaging	Het
Nup188	G	A	2: 30,309,878	D305N	probably damaging	Het
Obscn	A	G	11: 59,038,363	V6145A	probably benign	Het
Olfr1037	A	G	2: 86,085,312	V155A	possibly damaging	Het
Olfr686	A	T	7: 105,204,021	H107Q	probably damaging	Het
Patl1	C	T	19: 11,931,630	A467V	probably damaging	Het
Pdss2	A	T	10: 43,402,522	M342L	probably benign	Het
Phax	A	G	18: 56,575,979	N183S	possibly damaging	Het
Pnck	A	T	X: 73,658,155	V93E	probably damaging	Het
Prol1	A	G	5: 88,328,216	N155S	unknown	Het
Ptprk	G	A	10: 28,263,512	V78I	probably benign	Het
Ptpru	A	T	4: 131,798,710		probably null	Het
Ptprv	A	G	1: 135,110,430		noncoding transcript	Het
Ranbp3l	A	G	15: 9,060,757	N233S	probably damaging	Het
Rapgefl1	A	G	11: 98,849,977	T552A	probably benign	Het
Rasgrp1	A	G	2: 117,285,029	S693P	probably benign	Het
Scyl2	A	T	10: 89,640,596	M889K	probably benign	Het
Serpina3a	C	T	12: 104,119,675	Q320*	probably null	Het
Slc12a1	A	T	2: 125,200,623	N733I	possibly damaging	Het
Snap47	C	T	11: 59,428,551	V254I	probably benign	Het
St6galnac2	A	T	11: 116,681,898	L244Q	possibly damaging	Het
Syce1	C	A	7: 140,779,896	L83F	probably damaging	Het
Tjp2	A	T	19: 24,108,818	V780E	possibly damaging	Het
Tns1	G	A	1: 73,995,308	R192C	probably damaging	Het
Trav6-3	T	C	14: 53,430,080	L3P	possibly damaging	Het
Ung	G	T	5: 114,130,623		probably null	Het
Usp32	T	A	11: 85,039,229	Y574F	probably 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
R0417:Fzd9	UTSW	5	135249619	missense	probably damaging	0.99
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
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'- TCTTGGAACTCCATACCCAGAC -3'
(R):5'- TATGTAGCCAGCATGGACCC -3'

Sequencing Primer
(F):5'- AGACTCCACTGGTGATGCC -3'
(R):5'- CACTGGCTTTGTGTTGGTACCC -3'

Posted On

2015-05-15