Mutagenetix > Incidental Mutation

Incidental Mutation 'R8893:Fzd9'

677824

Institutional Source

Beutler Lab

Gene Symbol

Fzd9

Ensembl Gene

ENSMUSG00000049551

Gene Name

frizzled class receptor 9

Synonyms

mfz9, Fz9, frizzled 9

MMRRC Submission

068696-MU

Accession Numbers

Essential gene?

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

Stock #

R8893 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135277792-135279901 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135279178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 236 (M236V)

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

possibly damaging
Transcript: ENSMUST00000062572
AA Change: M236V

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000053551
Gene: ENSMUSG00000049551
AA Change: M236V

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

0.0755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (57/58)

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
Adprhl1	T	C	8: 13,274,511 (GRCm39)	D749G	probably benign	Het
Ank1	T	A	8: 23,598,241 (GRCm39)	I782N	probably damaging	Het
Arap2	T	A	5: 62,888,037 (GRCm39)	Q436H	probably damaging	Het
Baz2b	A	C	2: 59,755,149 (GRCm39)	F269L	probably damaging	Het
Bivm	C	T	1: 44,158,439 (GRCm39)		probably benign	Het
Brsk1	A	T	7: 4,711,089 (GRCm39)	D603V	probably damaging	Het
C2cd3	C	T	7: 100,104,004 (GRCm39)	P2006S	probably benign	Het
Cacna1a	T	C	8: 85,313,764 (GRCm39)	F1513L	probably benign	Het
Cdin1	T	A	2: 115,505,265 (GRCm39)	S179T	probably benign	Het
Cep128	C	T	12: 91,263,006 (GRCm39)	E298K	probably damaging	Het
Cfap74	A	G	4: 155,531,152 (GRCm39)	T802A	unknown	Het
Cnbd2	G	A	2: 156,154,460 (GRCm39)	R3Q	unknown	Het
Cul9	TTCCTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTC	17: 46,811,775 (GRCm39)		probably benign	Het
Defa28	C	T	8: 22,073,840 (GRCm39)	T81I		Het
Dync1h1	A	G	12: 110,608,477 (GRCm39)	D2735G	probably damaging	Het
Eif5b	A	T	1: 38,090,300 (GRCm39)	I1160F	possibly damaging	Het
H2ac7	A	G	13: 23,758,664 (GRCm39)	Q7R	unknown	Het
Haus6	A	G	4: 86,501,364 (GRCm39)	S836P	possibly damaging	Het
Hdac5	T	A	11: 102,097,512 (GRCm39)	K167I	possibly damaging	Het
Heatr5b	C	G	17: 79,069,424 (GRCm39)		probably benign	Het
Impdh1	G	A	6: 29,216,248 (GRCm39)		probably benign	Het
Iqgap3	T	C	3: 87,997,193 (GRCm39)	I192T	probably damaging	Het
Lama1	C	T	17: 68,112,367 (GRCm39)	A2269V		Het
Lamb3	A	G	1: 193,014,644 (GRCm39)	N601S	probably damaging	Het
Ltbp2	G	T	12: 84,875,316 (GRCm39)	N569K	probably damaging	Het
Macf1	T	C	4: 123,304,323 (GRCm39)	S60G	probably benign	Het
Marchf6	A	T	15: 31,498,850 (GRCm39)	V149E	probably damaging	Het
Mcu	A	G	10: 59,287,078 (GRCm39)	S160P	probably benign	Het
Miga1	A	G	3: 151,982,294 (GRCm39)	L594P	probably damaging	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Ndst2	A	G	14: 20,774,830 (GRCm39)	I791T	probably benign	Het
Nebl	A	T	2: 17,735,671 (GRCm39)	M1K	probably null	Het
Or2bd2	T	C	7: 6,443,285 (GRCm39)	C129R	probably damaging	Het
Or5c1	A	G	2: 37,222,388 (GRCm39)	I210V	probably damaging	Het
Ormdl1	A	T	1: 53,344,708 (GRCm39)	D90V	probably damaging	Het
Pank1	A	T	19: 34,804,903 (GRCm39)		probably benign	Het
Pcdhac2	T	A	18: 37,277,071 (GRCm39)	L17Q	probably benign	Het
Pde3a	A	T	6: 141,405,522 (GRCm39)	D458V	probably damaging	Het
Pgm1	T	G	4: 99,824,297 (GRCm39)	N323K	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pigw	A	T	11: 84,767,961 (GRCm39)	I456K	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plxnc1	T	A	10: 94,685,709 (GRCm39)	I761L	probably benign	Het
Pramel22	A	T	4: 143,382,060 (GRCm39)	M212K	probably damaging	Het
Prkaca	A	G	8: 84,717,151 (GRCm39)	N172D	probably damaging	Het
Rab3b	A	C	4: 108,797,925 (GRCm39)	D192A	probably benign	Het
Rims2	T	C	15: 39,398,350 (GRCm39)	L1105P	probably benign	Het
Rinl	T	A	7: 28,491,747 (GRCm39)	I100N	probably damaging	Het
Rnf13	T	G	3: 57,714,520 (GRCm39)	I193S	probably damaging	Het
Rnf213	A	G	11: 119,333,868 (GRCm39)	I3027V		Het
Sik2	A	T	9: 50,810,026 (GRCm39)	S512R	probably damaging	Het
Snx17	A	G	5: 31,353,887 (GRCm39)	Y225C	probably damaging	Het
Spata13	A	T	14: 60,987,524 (GRCm39)	D894V	probably damaging	Het
Spx	A	G	6: 142,360,543 (GRCm39)	D65G	probably damaging	Het
Syne1	G	T	10: 5,299,020 (GRCm39)	S1022*	probably null	Het
Tchh	C	T	3: 93,354,957 (GRCm39)	Q1466*	probably null	Het
Tmem120b	T	C	5: 123,254,302 (GRCm39)	L292P	probably damaging	Het
Vmn2r10	T	C	5: 109,143,677 (GRCm39)	T758A	probably benign	Het
Vmn2r45	C	T	7: 8,488,619 (GRCm39)	C137Y	probably damaging	Het
Zfp994	A	G	17: 22,424,306 (GRCm39)	S4P	probably damaging	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
R5475:Fzd9	UTSW	5	135,279,123 (GRCm39)	splice site	probably null
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
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'- TGGATCACATACAGAGCCCC -3'
(R):5'- GAGCAATTCAATTTCGGCTGGC -3'

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

Posted On

2021-08-02