Mutagenetix > Incidental Mutation

Incidental Mutation 'R2898:Fzd9'

261350

Institutional Source

Beutler Lab

Gene Symbol

Fzd9

Ensembl Gene

ENSMUSG00000049551

Gene Name

frizzled class receptor 9

Synonyms

mfz9, Fz9, frizzled 9

MMRRC Submission

040486-MU

Accession Numbers

Essential gene?

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

Stock #

R2898 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135277792-135279901 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 135278700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 395 (D395A)

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: D395A

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

SMART Domains

Protein: ENSMUSP00000053551
Gene: ENSMUSG00000049551
AA Change: D395A

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: 97.2%
20x: 94.9%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	C	T	X: 77,413,868 (GRCm39)	Q198*	probably null	Het
Acap3	C	T	4: 155,987,916 (GRCm39)	R547C	possibly damaging	Het
Acap3	G	C	4: 155,989,388 (GRCm39)		probably null	Het
Adcy6	A	G	15: 98,491,369 (GRCm39)	S1075P	probably damaging	Het
Ankk1	T	A	9: 49,333,122 (GRCm39)	T121S	probably benign	Het
Bnc2	T	C	4: 84,211,152 (GRCm39)	I406V	probably damaging	Het
Bnipl	T	A	3: 95,150,360 (GRCm39)	H219L	probably benign	Het
Brwd1	C	A	16: 95,867,300 (GRCm39)	M178I	probably damaging	Het
Cep192	T	A	18: 67,988,341 (GRCm39)		probably null	Het
Chd5	T	C	4: 152,456,572 (GRCm39)	F970L	probably damaging	Het
Cit	A	G	5: 116,012,037 (GRCm39)		probably null	Het
Coq9	T	C	8: 95,579,752 (GRCm39)	Y236H	probably damaging	Het
Cxcr2	T	C	1: 74,198,130 (GRCm39)	V208A	probably benign	Het
Dnah10	G	A	5: 124,894,734 (GRCm39)	R3433H	probably damaging	Het
Dnmt3b	G	T	2: 153,509,550 (GRCm39)	V268L	possibly damaging	Het
Fbxw21	T	C	9: 108,985,404 (GRCm39)	T125A	possibly damaging	Het
Gfm2	T	C	13: 97,309,469 (GRCm39)	V642A	possibly damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Hid1	A	G	11: 115,241,356 (GRCm39)	S645P	probably benign	Het
Hmgxb3	C	T	18: 61,288,368 (GRCm39)	V500M	probably benign	Het
Hnf1a	C	T	5: 115,098,106 (GRCm39)	W165*	probably null	Het
Hsd3b1	A	T	3: 98,760,623 (GRCm39)	C123S	probably benign	Het
Inpp4a	A	T	1: 37,405,675 (GRCm39)	H148L	probably benign	Het
Itpr2	C	T	6: 146,074,839 (GRCm39)	R2338Q	probably benign	Het
Itpr2	A	T	6: 146,224,667 (GRCm39)	I1441N	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Lmo7	A	G	14: 102,114,350 (GRCm39)	T31A	possibly damaging	Het
Lrrc15	C	T	16: 30,092,604 (GRCm39)	R245H	probably benign	Het
Lrriq1	T	C	10: 103,063,111 (GRCm39)	N65S	probably damaging	Het
Mpp4	T	C	1: 59,183,853 (GRCm39)	I296V	probably benign	Het
Myo6	T	A	9: 80,176,893 (GRCm39)		probably null	Het
Myo7a	G	T	7: 97,703,631 (GRCm39)	Y2003*	probably null	Het
Myo7a	T	C	7: 97,746,413 (GRCm39)	N246D	probably damaging	Het
Ndrg4	A	G	8: 96,405,014 (GRCm39)		probably null	Het
Neu2	A	G	1: 87,522,782 (GRCm39)	S72G	probably benign	Het
Or51g1	T	A	7: 102,634,084 (GRCm39)	I96F	probably benign	Het
Or8b1c	T	C	9: 38,384,271 (GRCm39)	V76A	probably damaging	Het
Pcdhb1	A	G	18: 37,399,516 (GRCm39)	Y489C	probably damaging	Het
Ppp1r10	A	G	17: 36,239,784 (GRCm39)	K501R	probably damaging	Het
Ppp1r9a	C	T	6: 4,906,558 (GRCm39)	T371I	probably benign	Het
Prpf8	A	T	11: 75,386,860 (GRCm39)	T1102S	probably benign	Het
Ric8b	T	G	10: 84,783,761 (GRCm39)	D206E	probably benign	Het
Sacm1l	T	C	9: 123,389,666 (GRCm39)		probably null	Het
Sema6c	C	A	3: 95,080,129 (GRCm39)	L776M	probably damaging	Het
Serpinb8	A	G	1: 107,534,776 (GRCm39)	T32A	unknown	Het
Sh2b3	A	T	5: 121,967,111 (GRCm39)	M1K	probably null	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Spty2d1	T	A	7: 46,643,100 (GRCm39)	M664L	unknown	Het
Stk36	T	A	1: 74,671,984 (GRCm39)	S895T	probably null	Het
Sycp3	G	A	10: 88,308,544 (GRCm39)	E205K	possibly damaging	Het
Taok3	A	G	5: 117,338,134 (GRCm39)		probably null	Het
Tasor2	T	C	13: 3,635,122 (GRCm39)	N562D	possibly damaging	Het
Tbc1d16	A	T	11: 119,048,654 (GRCm39)	I333N	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Thumpd2	C	T	17: 81,351,557 (GRCm39)	W288*	probably null	Het
Tnks2	T	C	19: 36,849,990 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpm1	T	C	9: 66,938,322 (GRCm39)	D254G	probably damaging	Het
Usp53	A	T	3: 122,751,223 (GRCm39)	L278*	probably null	Het
Zfp37	C	T	4: 62,110,014 (GRCm39)	G350D	probably damaging	Het
Zfp777	C	T	6: 48,002,594 (GRCm39)	E543K	probably damaging	Het
Zfp81	A	T	17: 33,553,274 (GRCm39)	C513*	probably null	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
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'- CGGCACTGTGTAAAGGATGG -3'
(R):5'- ATGGCCAGCTCACTTTGGTG -3'

Sequencing Primer
(F):5'- GGAAAAGACTCCGATTTTGACC -3'
(R):5'- TTGACTCTAACCTGGTTCCTGG -3'

Posted On

2015-01-23