Mutagenetix > Incidental Mutation

Incidental Mutation 'R0417:Fzd9'

40393

Institutional Source

Beutler Lab

Gene Symbol

Fzd9

Ensembl Gene

ENSMUSG00000049551

Gene Name

frizzled class receptor 9

Synonyms

mfz9, Fz9, frizzled 9

MMRRC Submission

038619-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.289) question?

Stock #

R0417 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135277792-135279901 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 135278473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 471 (R471S)

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

probably damaging
Transcript: ENSMUST00000062572
AA Change: R471S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000053551
Gene: ENSMUSG00000049551
AA Change: R471S

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

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,199,244 (GRCm39)	K217R	probably damaging	Het
1810024B03Rik	A	G	2: 127,028,864 (GRCm39)	Y112H	probably damaging	Het
Acot2	T	C	12: 84,037,387 (GRCm39)	Y234H	probably benign	Het
Alox12e	C	T	11: 70,212,691 (GRCm39)	V53I	probably benign	Het
Ankrd50	T	C	3: 38,510,510 (GRCm39)	H619R	probably damaging	Het
Arfgef3	A	T	10: 18,479,259 (GRCm39)	L1452Q	probably damaging	Het
Arhgap42	T	C	9: 9,180,034 (GRCm39)	S82G	possibly damaging	Het
Arhgef18	T	C	8: 3,438,957 (GRCm39)		probably benign	Het
Bicra	C	A	7: 15,706,247 (GRCm39)	R1398L	probably damaging	Het
Boc	T	C	16: 44,340,597 (GRCm39)	T118A	probably benign	Het
Btnl9	A	G	11: 49,066,422 (GRCm39)	Y381H	probably damaging	Het
Cbln3	T	G	14: 56,121,586 (GRCm39)	E20A	probably benign	Het
Cdc42ep5	A	G	7: 4,154,482 (GRCm39)	L102P	probably damaging	Het
Csrnp3	A	G	2: 65,849,887 (GRCm39)	Y171C	probably benign	Het
Cyp2d9	A	T	15: 82,340,152 (GRCm39)	I181F	probably damaging	Het
Cyp7b1	T	A	3: 18,150,855 (GRCm39)	T295S	probably damaging	Het
Dbn1	C	T	13: 55,622,729 (GRCm39)	E585K	probably damaging	Het
Dok1	A	T	6: 83,008,550 (GRCm39)	D377E	probably damaging	Het
Eed	A	T	7: 89,620,760 (GRCm39)	Y87*	probably null	Het
Entpd3	T	C	9: 120,386,487 (GRCm39)	V156A	probably damaging	Het
Exo5	T	A	4: 120,779,269 (GRCm39)	T199S	probably damaging	Het
Extl2	T	C	3: 115,818,006 (GRCm39)	I106T	probably benign	Het
Ezh2	A	G	6: 47,528,660 (GRCm39)	C291R	probably benign	Het
Flvcr1	A	T	1: 190,743,416 (GRCm39)	M466K	probably benign	Het
Fras1	G	T	5: 96,839,231 (GRCm39)	M1583I	probably benign	Het
Galr1	A	T	18: 82,423,665 (GRCm39)	F204Y	probably damaging	Het
Gna11	A	T	10: 81,366,738 (GRCm39)	I324N	probably damaging	Het
Gucy1a2	A	G	9: 3,759,484 (GRCm39)	E430G	possibly damaging	Het
Hhatl	C	T	9: 121,617,828 (GRCm39)	A254T	probably benign	Het
Ikzf1	A	C	11: 11,719,352 (GRCm39)	N353T	probably benign	Het
Il7	T	A	3: 7,641,087 (GRCm39)	T110S	probably damaging	Het
Keg1	A	G	19: 12,688,424 (GRCm39)	N53D	probably damaging	Het
Klhl21	T	C	4: 152,099,964 (GRCm39)	I558T	probably damaging	Het
Lca5l	G	A	16: 95,963,853 (GRCm39)	T357M	probably damaging	Het
Lrba	T	C	3: 86,622,961 (GRCm39)	S2448P	probably damaging	Het
Map3k6	T	A	4: 132,975,393 (GRCm39)	Y709*	probably null	Het
Megf6	A	G	4: 154,352,424 (GRCm39)	E1261G	probably benign	Het
Mettl3	C	T	14: 52,534,155 (GRCm39)	G473D	probably damaging	Het
Mga	A	G	2: 119,733,271 (GRCm39)	I40V	probably damaging	Het
Mmp13	T	A	9: 7,276,602 (GRCm39)	D232E	probably benign	Het
Nampt	T	C	12: 32,883,100 (GRCm39)	V95A	probably benign	Het
Nbeal1	T	C	1: 60,286,893 (GRCm39)	V905A	probably benign	Het
Nomo1	A	T	7: 45,718,122 (GRCm39)	E840V	possibly damaging	Het
Nprl2	A	T	9: 107,420,497 (GRCm39)	I101F	probably damaging	Het
Nup160	A	T	2: 90,565,771 (GRCm39)	I1378F	possibly damaging	Het
Ogdhl	T	C	14: 32,048,936 (GRCm39)	S69P	probably damaging	Het
Or2y17	T	A	11: 49,231,500 (GRCm39)	I47N	possibly damaging	Het
Or4a68	C	A	2: 89,270,519 (GRCm39)	V35L	possibly damaging	Het
Or4k77	A	G	2: 111,199,450 (GRCm39)	S158G	possibly damaging	Het
Or5be3	A	T	2: 86,863,789 (GRCm39)	Y259N	probably damaging	Het
Or8b12i	G	A	9: 20,082,510 (GRCm39)	A119V	probably damaging	Het
Or8c16	A	G	9: 38,130,751 (GRCm39)	I211V	probably benign	Het
Or8c8	T	C	9: 38,165,160 (GRCm39)	F149S	probably benign	Het
Osbpl3	C	T	6: 50,324,998 (GRCm39)	V167I	probably benign	Het
Pclo	T	A	5: 14,763,036 (GRCm39)	H3836Q	unknown	Het
Prkcg	A	T	7: 3,352,820 (GRCm39)		probably null	Het
Ror1	A	T	4: 100,269,197 (GRCm39)	H345L	possibly damaging	Het
Slc36a2	C	T	11: 55,072,370 (GRCm39)		probably null	Het
Slc40a1	G	A	1: 45,950,534 (GRCm39)	P306L	possibly damaging	Het
Slc9a8	C	A	2: 167,299,264 (GRCm39)	T239K	probably benign	Het
Snapc3	A	G	4: 83,368,399 (GRCm39)	I299V	probably benign	Het
Sp3	G	A	2: 72,801,845 (GRCm39)	A56V	possibly damaging	Het
Spag17	T	A	3: 99,972,870 (GRCm39)	S1361T	probably benign	Het
Sptbn2	A	G	19: 4,787,954 (GRCm39)	T978A	probably benign	Het
Stom	C	A	2: 35,211,644 (GRCm39)	V126F	probably damaging	Het
Stpg2	A	G	3: 138,924,082 (GRCm39)	T162A	probably damaging	Het
Stxbp6	G	A	12: 44,949,740 (GRCm39)	T63M	probably damaging	Het
Tatdn1	A	C	15: 58,793,199 (GRCm39)	I69S	probably benign	Het
Tbata	A	T	10: 61,016,118 (GRCm39)	D198V	probably damaging	Het
Tbc1d5	T	C	17: 51,063,733 (GRCm39)	I638V	probably benign	Het
Tomm70a	A	G	16: 56,970,266 (GRCm39)	D548G	probably benign	Het
Ust	A	G	10: 8,121,700 (GRCm39)	F303L	probably damaging	Het
Vps13d	A	G	4: 144,703,130 (GRCm39)	S4306P	probably benign	Het
Zbed6	A	T	1: 133,586,276 (GRCm39)	S354T	probably benign	Het
Zfp691	A	G	4: 119,027,693 (GRCm39)	S180P	possibly 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
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
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'- ACAGGCTCTGCCAAGTCTGAAAAG -3'
(R):5'- GATGAACTGACTGGGCTCTGCTATG -3'

Sequencing Primer
(F):5'- GTCTGAAAAGTCTTGGAACTCC -3'
(R):5'- TATGTAGCCAGCATGGACCC -3'

Posted On

2013-05-23