Mutagenetix > Incidental Mutations

Incidental Mutation 'R4078:Fzd9'

316684

Institutional Source

Beutler Lab

Gene Symbol

Fzd9

Ensembl Gene

ENSMUSG00000049551

Gene Name

frizzled class receptor 9

Synonyms

mfz9, frizzled 9

MMRRC Submission

041623-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.311) question?

Stock #

R4078 (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

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]

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: 98.7%
10x: 97.5%
20x: 95.8%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,304,061	L367*	probably null	Het
Agfg1	T	A	1: 82,882,287	S312T	possibly damaging	Het
Akap8	C	T	17: 32,312,298	R380Q	probably damaging	Het
Ambp	T	A	4: 63,150,443	K112N	probably damaging	Het
Arl5c	A	T	11: 97,993,501	I88N	probably damaging	Het
Asah1	A	G	8: 41,354,082	S102P	probably damaging	Het
Atp10b	T	C	11: 43,153,283	V112A	probably benign	Het
C3	C	T	17: 57,205,303	D1542N	possibly damaging	Het
Cabs1	G	A	5: 87,980,302	E271K	probably damaging	Het
Car8	T	C	4: 8,169,731	K259R	possibly damaging	Het
Ccdc18	C	T	5: 108,158,528	Q270*	probably null	Het
Cdh4	A	G	2: 179,889,173	E616G	possibly damaging	Het
Cdk11b	C	T	4: 155,639,747		probably benign	Het
Cfap74	A	G	4: 155,455,671	D975G	probably damaging	Het
Col27a1	G	T	4: 63,224,432	R119L	probably damaging	Het
Col7a1	A	G	9: 108,960,991	N918S	unknown	Het
Colec11	T	C	12: 28,595,247	N142D	possibly damaging	Het
Cox7a2	G	A	9: 79,758,570	Q10*	probably null	Het
Cyp2b23	C	A	7: 26,673,092	G366V	probably damaging	Het
Emsy	G	A	7: 98,590,725	P1108S	probably damaging	Het
Etl4	A	T	2: 20,807,961	R1442S	probably damaging	Het
Fam151a	G	A	4: 106,747,757	G439S	probably benign	Het
Fat1	C	T	8: 44,989,122	P1154S	probably damaging	Het
Fat4	G	A	3: 38,980,020	S2607N	probably damaging	Het
Fzd7	T	A	1: 59,483,789	M277K	possibly damaging	Het
Gm10436	T	A	12: 88,175,913	I312F	probably benign	Het
Gm2016	A	G	12: 87,876,631	K16R	unknown	Het
Gm38706	G	T	6: 130,483,737		noncoding transcript	Het
Gm9758	T	A	5: 14,911,522		probably null	Het
Gpr3	T	C	4: 133,210,915	T149A	probably damaging	Het
Heatr9	C	A	11: 83,512,428	K428N	probably benign	Het
Hgs	T	A	11: 120,483,048	S723T	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Kcnn3	A	G	3: 89,661,188	K591R	possibly damaging	Het
Khdrbs2	T	C	1: 32,519,814		probably benign	Het
Lpp	G	A	16: 24,681,861	R141H	probably damaging	Het
Lrpap1	A	G	5: 35,096,037	I261T	possibly damaging	Het
Macf1	T	A	4: 123,472,091	Q2959L	probably benign	Het
Mipep	T	A	14: 60,846,477	Y606N	probably damaging	Het
Mroh5	C	A	15: 73,786,040	C547F	possibly damaging	Het
Nek3	A	T	8: 22,132,137	W363R	probably damaging	Het
Nphs1	T	A	7: 30,467,520	Y717*	probably null	Het
Obscn	A	G	11: 59,038,363	V6145A	probably benign	Het
Olfr167	T	A	16: 19,515,232	M135L	possibly damaging	Het
Olfr365	T	A	2: 37,202,012	I257N	possibly damaging	Het
Olfr508	T	A	7: 108,630,907	M305K	probably benign	Het
Olfr824	G	A	10: 130,126,718	T113I	probably damaging	Het
Optc	T	C	1: 133,898,349	H270R	probably damaging	Het
Pik3c2g	A	G	6: 139,635,610		probably benign	Het
Pms1	A	T	1: 53,267,789		probably null	Het
Prkg1	T	C	19: 31,585,578	Y156C	probably damaging	Het
Prol1	A	G	5: 88,328,216	N155S	unknown	Het
Rapgefl1	A	G	11: 98,849,977	T552A	probably benign	Het
Slc22a28	T	A	19: 8,101,413	H304L	probably benign	Het
Stox1	C	T	10: 62,666,031	C250Y	probably benign	Het
Sult2a3	A	G	7: 14,121,737	W65R	possibly damaging	Het
Syce1	C	A	7: 140,779,896	L83F	probably damaging	Het
Syne2	C	A	12: 76,035,624	T4857K	probably damaging	Het
Tcp1	T	C	17: 12,918,083	L64S	probably benign	Het
Thap11	G	T	8: 105,855,916	E186*	probably null	Het
Tmem67	A	G	4: 12,040,633		probably null	Het
Trappc10	T	C	10: 78,210,382	Y458C	probably damaging	Het
Ufd1	A	G	16: 18,825,778	Y197C	possibly damaging	Het
Ung	G	T	5: 114,130,623		probably null	Het
Usp49	A	G	17: 47,674,749	T245A	probably damaging	Het
Washc1	A	T	17: 66,117,161	E289D	probably benign	Het
Zc3h7a	A	T	16: 11,151,147	V450E	probably benign	Het
Zcchc17	T	G	4: 130,329,625	I123L	possibly damaging	Het
Zfp955a	A	G	17: 33,241,701	Y486H	probably benign	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
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
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