Mutagenetix > Incidental Mutations

Incidental Mutation 'R4956:Fzd9'

381571

Institutional Source

Beutler Lab

Gene Symbol

Fzd9

Ensembl Gene

ENSMUSG00000049551

Gene Name

frizzled class receptor 9

Synonyms

mfz9, frizzled 9

MMRRC Submission

042553-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.313) question?

Stock #

R4956 (G1)

Quality Score

210

Status

Validated

Chromosome

Chromosomal Location

135248938-135251230 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 135249942 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 363 (A363V)

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: A363V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053551
Gene: ENSMUSG00000049551
AA Change: A363V

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

0.8776

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

96% (70/73)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	C	1: 120,169,110		probably benign	Het
3110009E18Rik	G	T	1: 120,169,119		probably benign	Het
3110009E18Rik	C	T	1: 120,169,120		probably benign	Het
4930562C15Rik	A	G	16: 4,854,952	K866E	probably damaging	Het
5830411N06Rik	A	G	7: 140,298,362	I1001V	probably benign	Het
Afap1l2	T	C	19: 56,943,447	M49V	probably benign	Het
Atf7ip	C	T	6: 136,606,810	R1280C	probably damaging	Het
Atp2a2	A	G	5: 122,461,580	F583L	probably benign	Het
Atxn7l3b	A	G	10: 112,928,596	C43R	probably damaging	Het
Axin2	T	C	11: 108,943,078	V617A	probably damaging	Het
Brd1	A	T	15: 88,730,113	F193Y	probably damaging	Het
Cdc27	T	C	11: 104,529,395	S141G	probably damaging	Het
Chst9	A	T	18: 15,717,988	F7Y	probably damaging	Het
Cpn2	T	A	16: 30,260,415	Q156L	possibly damaging	Het
Dcaf6	A	T	1: 165,388,785	D416E	probably benign	Het
Dync1h1	C	A	12: 110,658,126	T3700N	probably damaging	Het
Eif2s3y	A	G	Y: 1,023,407	T430A	possibly damaging	Het
Enah	G	A	1: 181,918,289	T401I	probably damaging	Het
Esp38	T	G	17: 39,955,162	I54R	probably damaging	Het
Ffar4	C	T	19: 38,097,580	R152W	probably benign	Het
Gadl1	T	A	9: 116,040,919	I451N	probably benign	Het
Hmg20a	A	G	9: 56,481,664	T172A	probably damaging	Het
Ints1	G	A	5: 139,757,130	T1695M	probably damaging	Het
Ipo13	G	A	4: 117,901,571	A699V	probably benign	Het
Ipo9	A	G	1: 135,404,222		probably null	Het
Klra17	A	G	6: 129,873,316	L57P	probably damaging	Het
Map3k8	A	C	18: 4,339,530	D280E	probably benign	Het
Mfsd7b	A	G	1: 191,026,186		probably benign	Het
Mycbp2	A	G	14: 103,287,239	F662L	probably damaging	Het
Ncor1	T	A	11: 62,340,605	H792L	probably damaging	Het
Nlrx1	T	A	9: 44,262,612	K431*	probably null	Het
Nos1	A	G	5: 117,947,510	N1301S	probably benign	Het
Obp2b	A	G	2: 25,737,075	T7A	probably damaging	Het
Odc1	T	C	12: 17,547,957	I95T	probably damaging	Het
Olfr1262	G	A	2: 90,002,843	V146M	probably benign	Het
Olfr1447	C	T	19: 12,901,599	M60I	probably damaging	Het
Olfr224	A	G	11: 58,566,518	Y276H	probably damaging	Het
Olfr522	A	G	7: 140,162,080	I290T	possibly damaging	Het
Olfr802	A	T	10: 129,682,099	F213L	probably benign	Het
Pcif1	A	T	2: 164,889,690	Q521L	probably damaging	Het
Plekhg2	A	C	7: 28,368,355	L223R	probably damaging	Het
Plod3	A	G	5: 136,989,918	N270D	probably damaging	Het
Ppp1r37	A	T	7: 19,532,711	L417*	probably null	Het
Psmd6	C	T	14: 14,116,166	V141I	probably benign	Het
Rcn1	A	T	2: 105,394,776	Y111*	probably null	Het
Rell2	G	A	18: 37,957,705	R145H	probably damaging	Het
Scaper	T	C	9: 55,838,142	K614R	probably damaging	Het
Shbg	C	T	11: 69,617,219	E107K	probably damaging	Het
Slc30a3	G	A	5: 31,086,903	P345L	possibly damaging	Het
Tchp	A	C	5: 114,719,620	E391D	probably damaging	Het
Timeless	A	G	10: 128,241,651	D200G	probably damaging	Het
Tspear	A	G	10: 77,864,767	T144A	possibly damaging	Het
Uhrf1bp1	T	A	17: 27,889,984		probably null	Het
Usp5	C	G	6: 124,822,630	K318N	possibly damaging	Het
Vgll3	T	C	16: 65,827,934	V56A	possibly damaging	Het
Vmn2r71	C	T	7: 85,619,228	T213I	probably benign	Het
Wtap	T	C	17: 12,967,536	T375A	probably benign	Het
Yipf2	T	G	9: 21,591,908	T88P	probably damaging	Het
Zfp382	T	A	7: 30,131,554	D89E	probably benign	Het
Zfp955b	C	T	17: 33,305,235		probably benign	Het
Zpr1	C	T	9: 46,274,663	T144I	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
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
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
X0063:Fzd9	UTSW	5	135249721	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AGCTTCTCCGTATTGGTGC -3'
(R):5'- GGTCTGGAAAACACAGGCTG -3'

Sequencing Primer
(F):5'- TTTTGCGGATATGGAAGAGAGCC -3'
(R):5'- AGGCTGCACCCTGGTCTTC -3'

Posted On

2016-04-27