Mutagenetix > Incidental Mutation

Incidental Mutation 'R7148:Fzd9'

553935

Institutional Source

Beutler Lab

Gene Symbol

Fzd9

Ensembl Gene

ENSMUSG00000049551

Gene Name

frizzled class receptor 9

Synonyms

mfz9, Fz9, frizzled 9

MMRRC Submission

045225-MU

Accession Numbers

Essential gene?

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

Stock #

R7148 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

135277792-135279901 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135278544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 447 (V447A)

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 benign
Transcript: ENSMUST00000062572
AA Change: V447A

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000053551
Gene: ENSMUSG00000049551
AA Change: V447A

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	T	A	14: 32,110,269 (GRCm39)	Y14F	probably damaging	Het
Acly	A	G	11: 100,374,608 (GRCm39)	V805A	possibly damaging	Het
Apcdd1	T	C	18: 63,084,916 (GRCm39)	V371A	probably damaging	Het
Cacna1g	A	T	11: 94,356,756 (GRCm39)	F127I	probably benign	Het
Ccdc138	T	C	10: 58,374,102 (GRCm39)	L374P	probably damaging	Het
Ces2b	A	G	8: 105,564,928 (GRCm39)	Y504C	probably damaging	Het
Ces5a	C	T	8: 94,228,950 (GRCm39)	G427S	probably damaging	Het
Chd1l	C	T	3: 97,498,632 (GRCm39)	V256M	probably damaging	Het
Col24a1	C	T	3: 145,021,060 (GRCm39)	T477M	probably damaging	Het
Dmbt1	T	A	7: 130,668,464 (GRCm39)	C573*	probably null	Het
Emcn	A	T	3: 137,122,855 (GRCm39)	Y188F	possibly damaging	Het
Eva1a	T	G	6: 82,048,125 (GRCm39)	M1R	probably null	Het
Fam243	T	C	16: 92,117,875 (GRCm39)	K138E	probably benign	Het
Fam83h	C	A	15: 75,877,016 (GRCm39)	D194Y	probably damaging	Het
Flywch1	T	C	17: 23,974,649 (GRCm39)	K664E	probably benign	Het
Heatr5b	T	C	17: 79,138,863 (GRCm39)	D93G	probably damaging	Het
Hmcn1	T	C	1: 150,562,605 (GRCm39)	I2318V	probably benign	Het
Hyal5	T	A	6: 24,876,901 (GRCm39)	L258Q	probably damaging	Het
Itprid1	T	C	6: 55,874,671 (GRCm39)	I207T	probably damaging	Het
Kmo	T	A	1: 175,479,168 (GRCm39)	C235S	probably damaging	Het
Lamc2	G	A	1: 153,061,730 (GRCm39)	P2S	probably benign	Het
Lman2	G	A	13: 55,500,762 (GRCm39)	P146S	probably benign	Het
Mars2	T	C	1: 55,276,673 (GRCm39)	I92T	probably damaging	Het
Msh3	A	G	13: 92,491,330 (GRCm39)	F27L	probably benign	Het
Myom2	T	C	8: 15,134,577 (GRCm39)	V460A	possibly damaging	Het
Nicn1	T	A	9: 108,172,306 (GRCm39)	*214R	probably null	Het
Nsd2	T	C	5: 34,042,855 (GRCm39)	F1040L	possibly damaging	Het
Or1ab2	T	A	8: 72,864,001 (GRCm39)	I197N	possibly damaging	Het
Osm	T	A	11: 4,189,936 (GRCm39)	I240N	probably benign	Het
Pard3b	T	A	1: 62,479,191 (GRCm39)	D884E	probably benign	Het
Pex5	T	G	6: 124,382,231 (GRCm39)	D150A	probably benign	Het
Pfkfb4	T	C	9: 108,856,676 (GRCm39)	V394A	probably damaging	Het
Pjvk	A	G	2: 76,488,831 (GRCm39)	K334R	possibly damaging	Het
Pkd1l2	T	C	8: 117,807,525 (GRCm39)	D171G	probably benign	Het
Prpf4b	T	G	13: 35,078,455 (GRCm39)	N688K	probably benign	Het
R3hcc1	T	C	14: 69,943,001 (GRCm39)	E192G	possibly damaging	Het
Rad54l2	C	A	9: 106,596,318 (GRCm39)	G207*	probably null	Het
Rhobtb3	G	T	13: 76,059,006 (GRCm39)	T264K	probably benign	Het
Rpl27	A	G	11: 101,333,232 (GRCm39)		probably benign	Het
Rxfp3	C	T	15: 11,036,863 (GRCm39)	V170I	possibly damaging	Het
Samd4	T	A	14: 47,254,140 (GRCm39)	S201R	probably benign	Het
Sell	A	G	1: 163,893,176 (GRCm39)	I131V	possibly damaging	Het
Semp2l2a	T	A	8: 13,887,996 (GRCm39)	I32L	probably benign	Het
Sirpb1c	A	T	3: 15,887,223 (GRCm39)	Y205*	probably null	Het
Smc3	A	T	19: 53,630,326 (GRCm39)	E1111V	possibly damaging	Het
Sowaha	C	A	11: 53,370,182 (GRCm39)	V185L	probably benign	Het
Spata4	A	C	8: 55,055,585 (GRCm39)	I159L	probably benign	Het
Spring1	A	G	5: 118,393,759 (GRCm39)	N46D	probably benign	Het
Tekt2	A	G	4: 126,216,174 (GRCm39)	I373T	probably benign	Het
Tle7	G	T	8: 110,836,048 (GRCm39)	R119I	probably benign	Het
Tomm20l	T	C	12: 71,164,313 (GRCm39)	V65A	probably benign	Het
Trabd2b	A	G	4: 114,266,547 (GRCm39)	D187G	probably damaging	Het
Trrap	A	G	5: 144,758,613 (GRCm39)	I2147V	possibly damaging	Het
Tsc22d2	T	A	3: 58,324,429 (GRCm39)	C440*	probably null	Het
Ube3b	A	C	5: 114,544,313 (GRCm39)	N570T	probably damaging	Het
Uevld	A	G	7: 46,600,724 (GRCm39)	I70T	probably damaging	Het
Usp10	C	T	8: 120,663,289 (GRCm39)	T37I	possibly damaging	Het
Vmn2r23	T	A	6: 123,689,981 (GRCm39)	F286I	probably benign	Het
Vmn2r62	A	G	7: 42,414,640 (GRCm39)	V601A	probably benign	Het
Wdr81	G	C	11: 75,336,828 (GRCm39)	N401K		Het
Ythdc2	G	T	18: 44,966,189 (GRCm39)	V142F	probably benign	Het
Zfp346	T	C	13: 55,253,263 (GRCm39)	F36S	possibly damaging	Het
Zfp748	C	T	13: 67,690,358 (GRCm39)	V301M	possibly damaging	Het
Zim1	T	C	7: 6,681,220 (GRCm39)	K148E	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
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
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'- CCAAGGACATGAAGATTTTGAGC -3'
(R):5'- CTGACTGGGCTCTGCTATGTAG -3'

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

Posted On

2019-05-15