Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02510:Fzd9'

296506

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fzd9

Ensembl Gene

ENSMUSG00000049551

Gene Name

frizzled class receptor 9

Synonyms

mfz9, frizzled 9

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.246) question?

Stock #

IGL02510

Quality Score

Status

Chromosome

Chromosomal Location

135248938-135251230 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135249615 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 472 (L472P)

Ref Sequence

ENSEMBL: ENSMUSP00000053551 (fasta)

Gene Model

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

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: L472P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000053551
Gene: ENSMUSG00000049551
AA Change: L472P

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

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	G	A	1: 171,251,390	S193N	probably benign	Het
Arrdc1	C	A	2: 24,935,100	V16F	probably damaging	Het
Bsx	A	T	9: 40,874,221	Q15L	possibly damaging	Het
Casp8ap2	A	G	4: 32,639,704	T253A	probably benign	Het
Cdkl3	T	C	11: 52,011,270	L102P	probably damaging	Het
Cgnl1	G	T	9: 71,725,357	N237K	probably benign	Het
Cldn14	T	A	16: 93,919,956	M1L	probably damaging	Het
Col1a2	C	T	6: 4,516,398	R171C	unknown	Het
Col7a1	C	A	9: 108,973,231		probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dhrs2	G	A	14: 55,236,075	V64M	probably damaging	Het
Disp3	G	A	4: 148,252,701	H886Y	probably benign	Het
Dst	G	A	1: 34,229,251		probably null	Het
Fnbp4	T	C	2: 90,751,475	V215A	probably benign	Het
Gm5096	A	G	18: 87,757,529	Q392R	probably benign	Het
Hpd	C	T	5: 123,181,910	R15Q	possibly damaging	Het
Htra2	A	G	6: 83,051,611	V412A	probably damaging	Het
Ift80	A	G	3: 68,898,543	F722S	probably benign	Het
Kcnq2	T	C	2: 181,081,361	T741A	probably benign	Het
Kl	A	C	5: 150,989,001	E738D	probably damaging	Het
Klra4	T	A	6: 130,059,543	I178L	probably damaging	Het
Klra9	T	C	6: 130,191,222	E27G	probably benign	Het
Kntc1	T	C	5: 123,819,062	Y2145H	probably benign	Het
Mbd5	T	A	2: 49,257,029	M417K	probably benign	Het
Med31	C	T	11: 72,212,056	M75I	probably benign	Het
Mpeg1	A	T	19: 12,461,424	D82V	probably damaging	Het
Msto1	A	G	3: 88,910,345	Y439H	probably damaging	Het
Olfr23	G	A	11: 73,941,005	G253E	probably damaging	Het
Olfr332	T	C	11: 58,490,539	Y72C	probably damaging	Het
Olfr344	T	C	2: 36,568,681	S28P	possibly damaging	Het
Olfr488	T	A	7: 108,256,141		probably benign	Het
Prtg	G	A	9: 72,890,869	V706M	probably damaging	Het
Sfxn2	G	T	19: 46,588,272	A186S	probably benign	Het
Slc12a5	A	T	2: 164,982,808		probably benign	Het
Slc7a3	T	C	X: 101,082,833	E222G	probably benign	Het
Stox1	A	T	10: 62,664,047	H911Q	probably benign	Het
Sult3a2	A	T	10: 33,766,439	N289K	probably benign	Het
Supt20	A	G	3: 54,715,524		probably benign	Het
Tchh	A	G	3: 93,444,078	E275G	unknown	Het
Tectb	A	T	19: 55,191,511	N263I	probably damaging	Het
Tsga10	C	T	1: 37,760,985	R608Q	possibly damaging	Het
Ttyh3	A	G	5: 140,629,464	Y390H	probably damaging	Het
Utf1	C	A	7: 139,944,016	S48*	probably null	Het
Zfp358	G	A	8: 3,496,786	G456D	probably benign	Het
Zufsp	A	G	10: 33,930,154		probably null	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
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
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
X0063:Fzd9	UTSW	5	135249721	missense	possibly damaging	0.92

Posted On

2015-04-16