Mutagenetix > Incidental Mutation

Incidental Mutation 'R5475:Fzd9'

434011

Institutional Source

Beutler Lab

Gene Symbol

Fzd9

Ensembl Gene

ENSMUSG00000049551

Gene Name

frizzled class receptor 9

Synonyms

mfz9, Fz9, frizzled 9

MMRRC Submission

043036-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.363) question?

Stock #

R5475 (G1)

Quality Score

184

Status

Validated

Chromosome

Chromosomal Location

135277792-135279901 bp(-) (GRCm39)

Type of Mutation

splice site (4140 bp from exon)

DNA Base Change (assembly)

A to T at 135279123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000002825 (fasta)

Gene Model

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

AlphaFold

Q9R216

Predicted Effect

probably null
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: F254Y

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

SMART Domains

Protein: ENSMUSP00000053551
Gene: ENSMUSG00000049551
AA Change: F254Y

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

0.7781

Coding Region Coverage

1x: 98.3%
3x: 97.4%
10x: 95.5%
20x: 91.8%

Validation Efficiency

96% (72/75)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
AA467197	A	G	2: 122,482,646 (GRCm39)	K70R	probably damaging	Het
Agr3	A	G	12: 35,997,539 (GRCm39)	N83S	probably benign	Het
Alpk2	T	C	18: 65,440,083 (GRCm39)	T904A	probably benign	Het
Ank	A	T	15: 27,557,285 (GRCm39)	K156N	probably damaging	Het
Arsb	T	G	13: 93,998,773 (GRCm39)	D360E	probably benign	Het
Atg14	C	T	14: 47,805,793 (GRCm39)	R24Q	possibly damaging	Het
Cacna1e	A	T	1: 154,601,455 (GRCm39)	F71I	possibly damaging	Het
Cdc42bpg	T	C	19: 6,361,101 (GRCm39)	I242T	probably damaging	Het
Cngb1	A	T	8: 95,978,597 (GRCm39)	I588N	probably damaging	Het
Col6a6	T	C	9: 105,651,537 (GRCm39)	H1158R	probably null	Het
Cse1l	T	C	2: 166,783,174 (GRCm39)	S684P	probably damaging	Het
Cyp2c29	A	T	19: 39,318,731 (GRCm39)	M404L	possibly damaging	Het
D5Ertd579e	G	T	5: 36,772,601 (GRCm39)	S598Y	probably damaging	Het
Dph7	A	T	2: 24,858,969 (GRCm39)		probably null	Het
Dsg1c	A	T	18: 20,415,088 (GRCm39)	N662Y	probably damaging	Het
Efcab9	T	G	11: 32,472,862 (GRCm39)	D195A	probably damaging	Het
Ephb4	A	G	5: 137,352,701 (GRCm39)	M95V	probably benign	Het
Fam171a1	A	T	2: 3,226,334 (GRCm39)	Y489F	possibly damaging	Het
Fars2	T	C	13: 36,388,553 (GRCm39)	I14T	probably benign	Het
Fbxo34	T	C	14: 47,766,802 (GRCm39)	V54A	probably benign	Het
Fbxw17	T	C	13: 50,579,684 (GRCm39)	I167T	probably benign	Het
Gm26996	T	A	6: 130,556,918 (GRCm39)		noncoding transcript	Het
Gm4744	A	G	6: 40,927,388 (GRCm39)		probably benign	Het
Gm4744	T	A	6: 40,927,403 (GRCm39)		probably benign	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Has1	C	A	17: 18,068,583 (GRCm39)	R257L	possibly damaging	Het
Hjv	T	C	3: 96,434,599 (GRCm39)	S113P	probably benign	Het
Hsd17b8	C	T	17: 34,246,287 (GRCm39)		probably benign	Het
Kat2b	T	G	17: 53,970,609 (GRCm39)	V665G	probably damaging	Het
Klhdc4	T	A	8: 122,526,311 (GRCm39)	H276L	possibly damaging	Het
Klhl6	A	T	16: 19,766,877 (GRCm39)	C506S	probably damaging	Het
Ldb2	T	C	5: 44,699,174 (GRCm39)	Y88C	probably damaging	Het
Lrit1	A	G	14: 36,776,958 (GRCm39)	E26G	probably benign	Het
Mcoln2	A	G	3: 145,889,541 (GRCm39)	Y414C	probably damaging	Het
Mfsd5	A	G	15: 102,188,928 (GRCm39)	D100G	probably damaging	Het
Micall2	T	A	5: 139,702,224 (GRCm39)	S340C	probably damaging	Het
Npsr1	T	C	9: 24,211,715 (GRCm39)	I81T	probably damaging	Het
Or2bd2	G	T	7: 6,443,169 (GRCm39)	R90L	probably benign	Het
Or2t49	A	G	11: 58,392,431 (GRCm39)	V317A	probably benign	Het
Or6x1	T	A	9: 40,099,005 (GRCm39)	L198H	possibly damaging	Het
Or8b56	T	A	9: 38,739,762 (GRCm39)	F258L	possibly damaging	Het
Pax3	T	C	1: 78,080,055 (GRCm39)	T444A	probably benign	Het
Pea15a	A	G	1: 172,026,809 (GRCm39)		probably null	Het
Phc1	T	A	6: 122,311,051 (GRCm39)	Q95L	possibly damaging	Het
Plch2	T	C	4: 155,084,594 (GRCm39)	Y361C	probably damaging	Het
Pphln1-ps1	A	T	16: 13,494,977 (GRCm39)	R25S	possibly damaging	Het
Rad54l2	C	T	9: 106,583,057 (GRCm39)	G787D	probably damaging	Het
Rbm20	G	T	19: 53,823,136 (GRCm39)	E578*	probably null	Het
Sipa1l2	A	T	8: 126,218,334 (GRCm39)	D334E	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Thumpd1	A	G	7: 119,319,943 (GRCm39)	S8P	probably benign	Het
Tnxb	T	C	17: 34,908,567 (GRCm39)	Y1407H	probably damaging	Het
Trav2	T	A	14: 52,805,290 (GRCm39)	V37E	probably damaging	Het
Trav3-1	G	T	14: 52,818,494 (GRCm39)	W56L	probably damaging	Het
Usp31	A	T	7: 121,250,749 (GRCm39)	L808Q	probably damaging	Het
Vmn1r52	C	T	6: 90,155,894 (GRCm39)	A66V	probably benign	Het
Vmn2r105	T	A	17: 20,455,044 (GRCm39)	I31L	probably benign	Het
Wdr1	C	T	5: 38,686,931 (GRCm39)	G278S	probably damaging	Het
Zbtb2	G	T	10: 4,319,275 (GRCm39)	F250L	probably benign	Het

Other mutations in Fzd9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00915:Fzd9	APN	5	135,278,323 (GRCm39)	missense	probably damaging	1.00
IGL01446:Fzd9	APN	5	135,279,420 (GRCm39)	missense	probably damaging	1.00
IGL02510:Fzd9	APN	5	135,278,469 (GRCm39)	missense	probably damaging	1.00
alexei	UTSW	5	135,279,484 (GRCm39)	missense	probably damaging	1.00
Nicholas	UTSW	5	135,279,178 (GRCm39)	missense	possibly damaging	0.54
R0308:Fzd9	UTSW	5	135,278,260 (GRCm39)	missense	probably damaging	0.97
R0417:Fzd9	UTSW	5	135,278,473 (GRCm39)	missense	probably damaging	0.99
R1563:Fzd9	UTSW	5	135,279,408 (GRCm39)	missense	probably damaging	0.96
R1638:Fzd9	UTSW	5	135,278,602 (GRCm39)	missense	probably damaging	1.00
R1840:Fzd9	UTSW	5	135,278,425 (GRCm39)	missense	probably benign
R2046:Fzd9	UTSW	5	135,278,538 (GRCm39)	missense	probably damaging	1.00
R2268:Fzd9	UTSW	5	135,279,148 (GRCm39)	missense	probably damaging	1.00
R2898:Fzd9	UTSW	5	135,278,700 (GRCm39)	missense	probably damaging	1.00
R4078:Fzd9	UTSW	5	135,278,490 (GRCm39)	missense	probably benign	0.01
R4079:Fzd9	UTSW	5	135,278,490 (GRCm39)	missense	probably benign	0.01
R4576:Fzd9	UTSW	5	135,279,166 (GRCm39)	missense	probably damaging	1.00
R4662:Fzd9	UTSW	5	135,278,475 (GRCm39)	missense	probably damaging	1.00
R4956:Fzd9	UTSW	5	135,278,796 (GRCm39)	missense	probably damaging	1.00
R5096:Fzd9	UTSW	5	135,278,713 (GRCm39)	missense	probably damaging	0.96
R5227:Fzd9	UTSW	5	135,278,460 (GRCm39)	missense	probably benign	0.06
R5452:Fzd9	UTSW	5	135,279,714 (GRCm39)	missense	probably damaging	1.00
R5888:Fzd9	UTSW	5	135,278,317 (GRCm39)	splice site	probably null
R5914:Fzd9	UTSW	5	135,278,199 (GRCm39)	missense	probably benign
R7148:Fzd9	UTSW	5	135,278,544 (GRCm39)	missense	probably benign	0.40
R7544:Fzd9	UTSW	5	135,278,716 (GRCm39)	missense	probably damaging	1.00
R7638:Fzd9	UTSW	5	135,279,484 (GRCm39)	missense	probably damaging	1.00
R8672:Fzd9	UTSW	5	135,278,524 (GRCm39)	missense	probably benign	0.02
R8893:Fzd9	UTSW	5	135,279,178 (GRCm39)	missense	possibly damaging	0.54
R8927:Fzd9	UTSW	5	135,278,589 (GRCm39)	missense	probably damaging	1.00
R8928:Fzd9	UTSW	5	135,278,589 (GRCm39)	missense	probably damaging	1.00
R9234:Fzd9	UTSW	5	135,279,540 (GRCm39)	missense	probably damaging	0.99
R9240:Fzd9	UTSW	5	135,278,812 (GRCm39)	missense	probably damaging	1.00
X0063:Fzd9	UTSW	5	135,278,575 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GCAGCCTGTGTTTTCCAGAC -3'
(R):5'- AATTCAATTTCGGCTGGCCC -3'

Sequencing Primer
(F):5'- GACCCTCCTGGATCACATACAG -3'
(R):5'- ACGCACTCTGTATGGAGGCAC -3'

Posted On

2016-10-06