Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01505:Fzd7'

89020

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fzd7

Ensembl Gene

ENSMUSG00000041075

Gene Name

frizzled class receptor 7

Synonyms

Fz7

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.506) question?

Stock #

IGL01505

Quality Score

Status

Chromosome

Chromosomal Location

59521583-59526114 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59523062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 315 (E315G)

Ref Sequence

ENSEMBL: ENSMUSP00000109884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114246]

AlphaFold

Q61090

Predicted Effect

probably benign
Transcript: ENSMUST00000114246
AA Change: E315G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000109884
Gene: ENSMUSG00000041075
AA Change: E315G

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
FRI	48	165	6.21e-71	SMART
Frizzled	241	565	1.64e-217	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180778

Coding Region Coverage

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 FZD7 protein contains an N-terminal signal sequence, 10 cysteine residues typical of the cysteine-rich extracellular domain of Fz family members, 7 putative transmembrane domains, and an intracellular C-terminal tail with a PDZ domain-binding motif. FZD7 gene expression may downregulate APC function and enhance beta-catenin-mediated signals in poorly differentiated human esophageal carcinomas. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit a shorter tail with a distal kink with full penetrance as well as cardiac defects with low penetrance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	T	C	18: 69,080,418 (GRCm39)		probably null	Het
A2m	A	G	6: 121,653,906 (GRCm39)	N1413S	possibly damaging	Het
Aadacl4fm4	C	T	4: 144,401,188 (GRCm39)	V99M	probably damaging	Het
Arhgap45	A	T	10: 79,862,376 (GRCm39)	N488Y	probably benign	Het
Arid4a	G	A	12: 71,083,889 (GRCm39)	D94N	probably damaging	Het
Atp7a	A	G	X: 105,153,436 (GRCm39)	K1114E	probably damaging	Het
Atp8a2	C	T	14: 60,265,512 (GRCm39)	V275M	probably benign	Het
Ceacam12	T	C	7: 17,801,357 (GRCm39)	V112A	probably damaging	Het
Cep295	T	A	9: 15,229,345 (GRCm39)	D2256V	probably benign	Het
Chid1	A	T	7: 141,093,807 (GRCm39)		probably null	Het
Clcn5	A	T	X: 7,036,678 (GRCm39)	L268*	probably null	Het
Cldn17	A	G	16: 88,303,591 (GRCm39)	I46T	possibly damaging	Het
Cnot1	A	T	8: 96,455,346 (GRCm39)	I2025N	probably damaging	Het
Cntn5	C	T	9: 9,706,092 (GRCm39)	V574M	probably damaging	Het
Col14a1	T	A	15: 55,318,619 (GRCm39)	C1373S	unknown	Het
Col9a1	A	G	1: 24,224,205 (GRCm39)	N129S	unknown	Het
Cp	C	T	3: 20,031,356 (GRCm39)	P598S	possibly damaging	Het
Cpb1	G	A	3: 20,320,410 (GRCm39)	R150C	probably damaging	Het
Cyp2j7	T	A	4: 96,115,917 (GRCm39)		probably null	Het
Dnajb7	T	C	15: 81,291,692 (GRCm39)	E215G	possibly damaging	Het
Dock1	G	A	7: 134,760,239 (GRCm39)	R1634Q	possibly damaging	Het
Dop1b	A	G	16: 93,554,004 (GRCm39)	T313A	possibly damaging	Het
Fgd2	T	A	17: 29,585,971 (GRCm39)	V185E	probably damaging	Het
Flnb	T	C	14: 7,902,003 (GRCm38)		probably null	Het
Gjd3	T	A	11: 102,691,552 (GRCm39)	K150N	probably benign	Het
Gpihbp1	C	T	15: 75,469,977 (GRCm39)		probably benign	Het
Gpr160	T	C	3: 30,950,002 (GRCm39)	S25P	possibly damaging	Het
Grsf1	G	A	5: 88,820,608 (GRCm39)	R58*	probably null	Het
Ifit1	T	A	19: 34,625,854 (GRCm39)	M330K	probably benign	Het
Igkv1-122	T	C	6: 67,994,178 (GRCm39)	V22A	probably benign	Het
Ikbke	A	T	1: 131,183,048 (GRCm39)	D692E	probably benign	Het
Il15ra	T	C	2: 11,737,956 (GRCm39)		probably benign	Het
Il18rap	A	G	1: 40,576,244 (GRCm39)	I252V	probably damaging	Het
Klra10	C	T	6: 130,249,680 (GRCm39)	G202R	probably damaging	Het
Kpna7	A	G	5: 144,929,661 (GRCm39)	V388A	probably damaging	Het
L2hgdh	A	G	12: 69,768,175 (GRCm39)	S108P	probably damaging	Het
Msto1	G	A	3: 88,818,050 (GRCm39)	T388M	probably benign	Het
Naip1	T	C	13: 100,562,441 (GRCm39)	E908G	probably damaging	Het
Neto1	C	A	18: 86,491,814 (GRCm39)	D238E	possibly damaging	Het
Nlrp5	T	A	7: 23,117,159 (GRCm39)	D294E	probably benign	Het
Nr3c2	T	C	8: 77,635,816 (GRCm39)	S306P	probably damaging	Het
Or8b41	T	A	9: 38,055,167 (GRCm39)	C240*	probably null	Het
Pard3	T	A	8: 128,050,544 (GRCm39)	L202H	probably damaging	Het
Pdzd2	T	C	15: 12,458,293 (GRCm39)	N190S	probably damaging	Het
Pi4ka	T	C	16: 17,127,222 (GRCm39)	D1077G	probably benign	Het
Pmfbp1	A	C	8: 110,240,543 (GRCm39)	L208F	probably damaging	Het
Pms1	C	T	1: 53,246,130 (GRCm39)	D470N	probably benign	Het
Prdm10	T	C	9: 31,238,578 (GRCm39)	F108L	probably benign	Het
Rab11fip1	A	T	8: 27,644,804 (GRCm39)	M327K	possibly damaging	Het
Slc37a4	T	A	9: 44,311,261 (GRCm39)	L184Q	probably damaging	Het
Smdt1	T	C	15: 82,232,094 (GRCm39)		probably benign	Het
Smg6	A	G	11: 75,047,117 (GRCm39)	Y1270C	probably damaging	Het
Speer4f2	T	A	5: 17,581,565 (GRCm39)	V169E	possibly damaging	Het
Stpg2	C	T	3: 139,023,214 (GRCm39)	A410V	probably benign	Het
Tnrc6b	T	A	15: 80,764,164 (GRCm39)	D555E	probably benign	Het
Tsg101	A	G	7: 46,558,808 (GRCm39)	Y46H	probably damaging	Het
Vmn2r111	G	A	17: 22,767,553 (GRCm39)	S648L	probably benign	Het
Vmn2r73	T	A	7: 85,507,267 (GRCm39)	R682*	probably null	Het
Xkr5	A	T	8: 18,983,514 (GRCm39)	I676N	probably damaging	Het

Other mutations in Fzd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01025:Fzd7	APN	1	59,523,539 (GRCm39)	missense	probably damaging	1.00
IGL02647:Fzd7	APN	1	59,523,554 (GRCm39)	missense	probably damaging	1.00
PIT4495001:Fzd7	UTSW	1	59,523,466 (GRCm39)	missense	probably benign	0.44
R0479:Fzd7	UTSW	1	59,522,867 (GRCm39)	missense	probably damaging	1.00
R0551:Fzd7	UTSW	1	59,522,443 (GRCm39)	missense	probably damaging	0.99
R0639:Fzd7	UTSW	1	59,523,719 (GRCm39)	missense	probably damaging	1.00
R1587:Fzd7	UTSW	1	59,522,165 (GRCm39)	missense	possibly damaging	0.47
R2056:Fzd7	UTSW	1	59,523,361 (GRCm39)	missense	probably benign	0.00
R2566:Fzd7	UTSW	1	59,523,695 (GRCm39)	missense	possibly damaging	0.84
R2890:Fzd7	UTSW	1	59,523,593 (GRCm39)	missense	probably benign	0.27
R4078:Fzd7	UTSW	1	59,522,948 (GRCm39)	missense	possibly damaging	0.51
R4306:Fzd7	UTSW	1	59,523,566 (GRCm39)	missense	probably damaging	1.00
R4744:Fzd7	UTSW	1	59,523,595 (GRCm39)	missense	possibly damaging	0.72
R5249:Fzd7	UTSW	1	59,522,522 (GRCm39)	missense	probably damaging	1.00
R5740:Fzd7	UTSW	1	59,522,839 (GRCm39)	missense	probably benign	0.03
R5997:Fzd7	UTSW	1	59,523,703 (GRCm39)	missense	probably benign	0.01
R6136:Fzd7	UTSW	1	59,522,419 (GRCm39)	missense	probably damaging	1.00
R6170:Fzd7	UTSW	1	59,523,004 (GRCm39)	missense	probably benign	0.01
R6476:Fzd7	UTSW	1	59,523,154 (GRCm39)	missense	probably damaging	1.00
R7234:Fzd7	UTSW	1	59,522,443 (GRCm39)	missense	probably damaging	0.99
R7753:Fzd7	UTSW	1	59,522,641 (GRCm39)	missense	probably benign
R8322:Fzd7	UTSW	1	59,522,242 (GRCm39)	missense	probably benign	0.01
R9066:Fzd7	UTSW	1	59,521,991 (GRCm39)	start gained	probably benign
R9188:Fzd7	UTSW	1	59,523,797 (GRCm39)	missense	probably benign
R9255:Fzd7	UTSW	1	59,522,495 (GRCm39)	missense	possibly damaging	0.77
R9326:Fzd7	UTSW	1	59,522,837 (GRCm39)	missense	possibly damaging	0.93
R9458:Fzd7	UTSW	1	59,523,554 (GRCm39)	missense	probably damaging	1.00
Z1088:Fzd7	UTSW	1	59,523,029 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-03