Mutagenetix > Incidental Mutation

Incidental Mutation 'R7544:Fzd9'

584077

Institutional Source

Beutler Lab

Gene Symbol

Fzd9

Ensembl Gene

ENSMUSG00000049551

Gene Name

frizzled class receptor 9

Synonyms

mfz9, Fz9, frizzled 9

MMRRC Submission

045616-MU

Accession Numbers

Essential gene?

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

Stock #

R7544 (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 135278716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 390 (Y390H)

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: Y390H

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

SMART Domains

Protein: ENSMUSP00000053551
Gene: ENSMUSG00000049551
AA Change: Y390H

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: 99.0%

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
4933427D14Rik	C	T	11: 72,089,765 (GRCm39)	V40I	probably damaging	Het
Abcb11	T	C	2: 69,095,830 (GRCm39)	K837E	probably benign	Het
Arhgef10	T	C	8: 15,029,854 (GRCm39)	S919P	probably benign	Het
Atxn2	T	C	5: 121,919,431 (GRCm39)	S530P	probably damaging	Het
Bicc1	T	C	10: 70,792,204 (GRCm39)	E268G	possibly damaging	Het
Bnip5	G	A	17: 29,124,298 (GRCm39)	R335W	probably damaging	Het
Capn7	T	G	14: 31,062,007 (GRCm39)	L40V	probably damaging	Het
Cd28	A	T	1: 60,808,859 (GRCm39)	N191I	probably damaging	Het
Cfap69	G	A	5: 5,645,936 (GRCm39)	T588M	not run	Het
Csmd1	T	C	8: 16,142,310 (GRCm39)	E1531G	probably damaging	Het
Cyp4a14	T	A	4: 115,348,283 (GRCm39)	D398V	probably damaging	Het
Dchs2	T	C	3: 83,262,434 (GRCm39)	S2901P	probably damaging	Het
Ddx11	G	A	17: 66,433,280 (GRCm39)	G37S	probably damaging	Het
Diaph1	A	T	18: 38,026,322 (GRCm39)		probably null	Het
Ech1	T	C	7: 28,525,392 (GRCm39)	V49A	probably benign	Het
Elovl4	T	C	9: 83,665,271 (GRCm39)	Y196C	probably damaging	Het
Ern2	G	A	7: 121,772,422 (GRCm39)	L679F	probably benign	Het
Fbf1	A	T	11: 116,056,659 (GRCm39)	M17K	probably benign	Het
Flvcr1	C	A	1: 190,758,143 (GRCm39)	G50W	probably damaging	Het
Fryl	A	G	5: 73,238,382 (GRCm39)	S1455P	probably benign	Het
Gnai3	C	T	3: 108,025,702 (GRCm39)	V126M		Het
Gpc5	T	C	14: 115,665,585 (GRCm39)	F470L	probably damaging	Het
Grin1	T	C	2: 25,195,086 (GRCm39)	N332S	probably benign	Het
Gtf3c5	T	A	2: 28,469,554 (GRCm39)	I117F	possibly damaging	Het
Hydin	A	T	8: 111,316,157 (GRCm39)	S4350C	probably benign	Het
Kcnh4	G	T	11: 100,647,906 (GRCm39)	H152Q	probably benign	Het
Kcnk12	A	T	17: 88,053,493 (GRCm39)	S390T	possibly damaging	Het
Klra9	T	G	6: 130,168,183 (GRCm39)	T28P	probably benign	Het
Lef1	T	A	3: 130,988,414 (GRCm39)	I327N	probably damaging	Het
Lin54	A	G	5: 100,633,129 (GRCm39)	V185A	possibly damaging	Het
Lrrc37	T	C	11: 103,506,274 (GRCm39)	E1898G	probably benign	Het
Lrrc4b	A	T	7: 44,111,975 (GRCm39)	I616F	probably damaging	Het
Mad2l1bp	A	G	17: 46,463,770 (GRCm39)	Y85H	possibly damaging	Het
Mars1	T	C	10: 127,147,479 (GRCm39)	E7G	probably benign	Het
Mpnd	G	A	17: 56,318,666 (GRCm39)	R225H	probably benign	Het
Muc4	T	A	16: 32,555,016 (GRCm39)	M1K	probably null	Het
Nckap5	A	G	1: 125,953,948 (GRCm39)	L868S	possibly damaging	Het
Ndst1	G	A	18: 60,830,256 (GRCm39)	T618M	probably damaging	Het
Npas1	A	T	7: 16,194,899 (GRCm39)		probably null	Het
Nr2f2	A	T	7: 70,004,499 (GRCm39)	V384D	probably damaging	Het
Or10a3b	A	G	7: 108,444,528 (GRCm39)	S230P	probably benign	Het
Or1e19	A	G	11: 73,316,596 (GRCm39)	L71P	probably damaging	Het
Or4p8	T	A	2: 88,727,705 (GRCm39)	I79F	probably damaging	Het
Paip1	T	A	13: 119,582,337 (GRCm39)	F188I	probably damaging	Het
Pcdha4	A	T	18: 37,086,776 (GRCm39)	I320L	probably benign	Het
Peg10	TCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATC	T	6: 4,756,427 (GRCm39)		probably null	Het
Pgpep1	C	T	8: 71,103,168 (GRCm39)	G110R	unknown	Het
Pidd1	T	A	7: 141,020,252 (GRCm39)	H558L	possibly damaging	Het
Ppp1r1a	C	T	15: 103,439,776 (GRCm39)		probably null	Het
Pramel18	T	C	4: 101,768,599 (GRCm39)	S317P	possibly damaging	Het
Pramel51	T	A	12: 88,142,850 (GRCm39)	Y451F	probably benign	Het
Prkcg	A	G	7: 3,359,081 (GRCm39)	D96G	probably benign	Het
Prpf40b	A	G	15: 99,203,899 (GRCm39)	N154S	probably benign	Het
Psg17	A	G	7: 18,553,897 (GRCm39)	Y118H	probably benign	Het
Ptpn12	A	G	5: 21,214,509 (GRCm39)	I209T	probably damaging	Het
Reln	T	A	5: 22,181,276 (GRCm39)	K1835*	probably null	Het
Sf3b3	T	C	8: 111,564,915 (GRCm39)	M298V	probably benign	Het
Slc5a3	T	A	16: 91,874,682 (GRCm39)	N246K	probably benign	Het
Slmap	T	A	14: 26,151,001 (GRCm39)	E522D	probably damaging	Het
Slmap	C	T	14: 26,151,003 (GRCm39)	E522K	probably damaging	Het
Tcp10c	T	A	17: 13,581,260 (GRCm39)	L230Q	probably damaging	Het
Tdo2	A	G	3: 81,878,942 (GRCm39)		probably null	Het
Tet3	A	T	6: 83,381,623 (GRCm39)	W182R	probably damaging	Het
Tmem151a	T	A	19: 5,121,895 (GRCm39)	M35L	unknown	Het
Tom1l2	TTGATGATG	TTGATG	11: 60,171,040 (GRCm39)		probably benign	Het
Trak2	A	T	1: 58,960,227 (GRCm39)		probably null	Het
Trappc11	T	A	8: 47,975,449 (GRCm39)	E256D	possibly damaging	Het
Trim62	C	T	4: 128,796,346 (GRCm39)	T281I	probably benign	Het
Trip13	T	C	13: 74,081,021 (GRCm39)	E115G	probably benign	Het
Trp63	A	G	16: 25,620,837 (GRCm39)	T10A	probably benign	Het
Urah	A	T	7: 140,415,565 (GRCm39)	H11L	probably damaging	Het
Usp39	G	A	6: 72,319,891 (GRCm39)	T109I	probably damaging	Het
Wfikkn2	T	C	11: 94,128,738 (GRCm39)	T468A	probably benign	Het
Zfhx4	T	G	3: 5,477,875 (GRCm39)	S3497A	probably damaging	Het
Zfp85	C	T	13: 67,897,184 (GRCm39)	R296H	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
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
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'- AGACTCCGATTTTGACCATCAG -3'
(R):5'- TGGGTGGTTTTGACTCTAACC -3'

Posted On

2019-10-17