Mutagenetix > Incidental Mutation

Incidental Mutation 'R8945:Fzd4'

681239

Institutional Source

Beutler Lab

Gene Symbol

Fzd4

Ensembl Gene

ENSMUSG00000049791

Gene Name

frizzled class receptor 4

Synonyms

Fz4

MMRRC Submission

068713-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.910) question?

Stock #

R8945 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89053574-89062341 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89056792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 280 (I280L)

Ref Sequence

ENSEMBL: ENSMUSP00000049852 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058755]

AlphaFold

Q61088

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058755
AA Change: I280L

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000049852
Gene: ENSMUSG00000049791
AA Change: I280L

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
FRI	44	163	2.08e-72	SMART
Frizzled	209	514	5.75e-204	SMART

Meta Mutation Damage Score

0.2560

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This protein may play a role as a positive regulator of the Wingless type MMTV integration site signaling pathway. A transcript variant retaining intronic sequence and encoding a shorter isoform has been described, however, its expression is not supported by other experimental evidence. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in hearing, locomotion, retinal morphology, and degeneration of the cerebellum. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aopep	G	T	13: 63,388,145 (GRCm39)	K709N	probably null	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
Atp6v0a2	G	T	5: 124,784,589 (GRCm39)	A291S	probably damaging	Het
Bcl9l	G	T	9: 44,412,238 (GRCm39)	V38L	possibly damaging	Het
Bmp1	T	C	14: 70,727,630 (GRCm39)	Y651C	probably damaging	Het
Btnl9	T	C	11: 49,065,661 (GRCm39)	E398G	probably benign	Het
C2cd3	A	T	7: 100,040,286 (GRCm39)	N285I	possibly damaging	Het
Cavin1	T	C	11: 100,849,659 (GRCm39)	T324A	probably damaging	Het
Ccdc73	A	G	2: 104,821,712 (GRCm39)	T554A	probably benign	Het
Clcn1	A	T	6: 42,263,701 (GRCm39)	M1L	possibly damaging	Het
Clec18a	A	T	8: 111,808,201 (GRCm39)	S77T	possibly damaging	Het
Dhx32	A	G	7: 133,323,876 (GRCm39)		probably null	Het
Dmxl1	C	G	18: 50,072,639 (GRCm39)	N2744K	probably damaging	Het
Dnah10	A	C	5: 124,891,006 (GRCm39)	E3199A	probably damaging	Het
Dnah11	G	T	12: 117,987,718 (GRCm39)	L2395I	probably benign	Het
Dthd1	A	T	5: 63,007,096 (GRCm39)	Y599F	probably benign	Het
Dusp26	G	A	8: 31,586,367 (GRCm39)	R196K	unknown	Het
Dyrk1a	A	G	16: 94,466,866 (GRCm39)	Y140C	probably damaging	Het
Elmo1	T	A	13: 20,766,438 (GRCm39)	Y588*	probably null	Het
Eml6	T	A	11: 29,703,110 (GRCm39)	T1603S	probably damaging	Het
Fam162b	T	C	10: 51,466,469 (GRCm39)	T17A	probably benign	Het
Fnbp1	T	A	2: 30,995,346 (GRCm39)	K29N	probably damaging	Het
G3bp2	G	A	5: 92,216,281 (GRCm39)	T85I	probably damaging	Het
Gm13283	C	T	4: 88,679,123 (GRCm39)	A38V	probably benign	Het
Hps3	T	A	3: 20,068,224 (GRCm39)	H610L	probably damaging	Het
Ifnlr1	T	G	4: 135,431,609 (GRCm39)	L266R	probably damaging	Het
Jak1	A	T	4: 101,020,109 (GRCm39)	D683E	probably benign	Het
Lrrc1	G	A	9: 77,342,373 (GRCm39)	T412M	probably damaging	Het
Mdga1	G	T	17: 30,058,959 (GRCm39)		probably benign	Het
Med26	T	C	8: 73,250,934 (GRCm39)	K55R	probably benign	Het
Mturn	C	A	6: 54,666,017 (GRCm39)	C63*	probably null	Het
Myo1h	A	C	5: 114,470,784 (GRCm39)	D381A	probably damaging	Het
Nectin1	A	G	9: 43,703,237 (GRCm39)	D165G	probably benign	Het
Nktr	T	A	9: 121,575,558 (GRCm39)	D330E	possibly damaging	Het
Oprm1	A	T	10: 6,782,644 (GRCm39)		probably benign	Het
Papola	T	A	12: 105,775,946 (GRCm39)		probably benign	Het
Pdcl2	A	T	5: 76,465,675 (GRCm39)	C134S	probably damaging	Het
Plch1	T	C	3: 63,639,039 (GRCm39)	Y478C	probably benign	Het
Rev1	A	T	1: 38,122,824 (GRCm39)	W465R	probably damaging	Het
Rp1	T	A	1: 4,419,817 (GRCm39)	I432F	probably benign	Het
Samd14	A	C	11: 94,912,027 (GRCm39)	D168A	probably damaging	Het
Sdk1	G	T	5: 141,598,935 (GRCm39)	C200F	probably benign	Het
Spmip2	A	G	3: 79,252,812 (GRCm39)	H9R	probably benign	Het
Spsb1	T	C	4: 149,991,475 (GRCm39)	Y31C	possibly damaging	Het
Spz1	T	C	13: 92,711,499 (GRCm39)	K326E	possibly damaging	Het
Tcaf1	C	T	6: 42,663,307 (GRCm39)	S191N	probably benign	Het
Tex15	A	G	8: 34,064,724 (GRCm39)	S1385G	probably benign	Het
Tmem38a	C	T	8: 73,338,570 (GRCm39)	A194V	probably damaging	Het
Trappc9	T	C	15: 72,929,945 (GRCm39)	N137S	probably benign	Het
Tshr	T	C	12: 91,504,997 (GRCm39)	L645P	probably damaging	Het
Tspyl4	T	A	10: 34,173,461 (GRCm39)		probably benign	Het
Unc13a	T	A	8: 72,100,597 (GRCm39)	I1064F	probably damaging	Het
Utp20	G	A	10: 88,628,532 (GRCm39)	Q921*	probably null	Het
Vps13a	A	T	19: 16,642,114 (GRCm39)	I2171N	probably damaging	Het
Zfp40	A	G	17: 23,401,201 (GRCm39)	V14A	probably benign	Het

Other mutations in Fzd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01419:Fzd4	APN	7	89,056,943 (GRCm39)	missense	probably damaging	0.99
IGL01458:Fzd4	APN	7	89,053,943 (GRCm39)	missense	unknown
IGL02858:Fzd4	APN	7	89,057,162 (GRCm39)	missense	probably damaging	1.00
IGL03393:Fzd4	APN	7	89,056,505 (GRCm39)	missense	probably benign	0.00
R1869:Fzd4	UTSW	7	89,056,454 (GRCm39)	missense	probably benign	0.01
R4639:Fzd4	UTSW	7	89,056,525 (GRCm39)	missense	probably benign	0.24
R4762:Fzd4	UTSW	7	89,056,924 (GRCm39)	missense	probably damaging	0.99
R4880:Fzd4	UTSW	7	89,057,109 (GRCm39)	missense	probably benign	0.00
R5135:Fzd4	UTSW	7	89,056,709 (GRCm39)	missense	probably damaging	1.00
R5279:Fzd4	UTSW	7	89,056,881 (GRCm39)	missense	probably benign	0.08
R5440:Fzd4	UTSW	7	89,057,326 (GRCm39)	nonsense	probably null
R5487:Fzd4	UTSW	7	89,056,615 (GRCm39)	missense	probably benign	0.00
R6021:Fzd4	UTSW	7	89,056,942 (GRCm39)	missense	probably benign	0.31
R6193:Fzd4	UTSW	7	89,057,197 (GRCm39)	nonsense	probably null
R6221:Fzd4	UTSW	7	89,054,100 (GRCm39)	missense	probably damaging	0.99
R6651:Fzd4	UTSW	7	89,054,010 (GRCm39)	missense	possibly damaging	0.72
R7549:Fzd4	UTSW	7	89,056,346 (GRCm39)	missense	possibly damaging	0.77
R7560:Fzd4	UTSW	7	89,056,761 (GRCm39)	nonsense	probably null
R7575:Fzd4	UTSW	7	89,056,918 (GRCm39)	missense	possibly damaging	0.88
R7731:Fzd4	UTSW	7	89,057,258 (GRCm39)	missense	possibly damaging	0.87
R7753:Fzd4	UTSW	7	89,056,992 (GRCm39)	nonsense	probably null
R9320:Fzd4	UTSW	7	89,056,912 (GRCm39)	missense	probably damaging	1.00
Z1177:Fzd4	UTSW	7	89,056,458 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CTACGATGCTGGCTTGTACAG -3'
(R):5'- TTCATGACCCCACTTGAGTC -3'

Sequencing Primer
(F):5'- TTGTACAGCCGCTCAGCTAAG -3'
(R):5'- TTGAGTCCGGCTGCCAAAAAC -3'

Posted On

2021-08-31