Incidental Mutation 'R4632:Fzd1'
ID349263
Institutional Source Beutler Lab
Gene Symbol Fzd1
Ensembl Gene ENSMUSG00000044674
Gene Namefrizzled class receptor 1
SynonymsFZ-1, Fz1
MMRRC Submission 041897-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4632 (G1)
Quality Score225
Status Not validated
Chromosome5
Chromosomal Location4753839-4758035 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 4755865 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 572 (Y572*)
Ref Sequence ENSEMBL: ENSMUSP00000058629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054294]
Predicted Effect probably null
Transcript: ENSMUST00000054294
AA Change: Y572*
SMART Domains Protein: ENSMUSP00000058629
Gene: ENSMUSG00000044674
AA Change: Y572*

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
low complexity region 54 67 N/A INTRINSIC
low complexity region 71 96 N/A INTRINSIC
FRI 110 227 7.77e-72 SMART
low complexity region 249 262 N/A INTRINSIC
Frizzled 304 635 4.18e-224 SMART
Meta Mutation Damage Score 0.6304 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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 FZD1 protein contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, 7 transmembrane domains, and a C-terminal PDZ domain-binding motif. The FZD1 transcript is expressed in various tissues. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene does not appear to result in a phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik T C 13: 63,068,092 S393P probably benign Het
Abcg1 T C 17: 31,064,473 V44A probably benign Het
Abr C T 11: 76,509,019 G39R probably benign Het
Adora2b TGGACCACTCCAGGACCACTC TGGACCACTC 11: 62,265,382 probably null Het
Agbl1 A G 7: 76,413,685 T47A probably benign Het
Akap13 G T 7: 75,666,553 A1389S possibly damaging Het
Alkbh2 C T 5: 114,124,226 E148K probably damaging Het
Ankar T A 1: 72,647,184 T1286S probably benign Het
Ankrd13c A G 3: 157,962,302 H166R probably damaging Het
Arl16 A G 11: 120,465,784 S130P probably damaging Het
Atp10a A T 7: 58,807,438 Q895L possibly damaging Het
Atp13a5 T A 16: 29,348,719 R138W probably damaging Het
Auts2 G A 5: 131,472,275 T309M probably damaging Het
C6 A T 15: 4,759,868 K265I probably benign Het
Casz1 A G 4: 148,951,855 T1525A possibly damaging Het
Chpf2 A G 5: 24,591,831 T592A probably benign Het
Cilp A T 9: 65,279,880 T1086S probably benign Het
Cmip A G 8: 117,447,411 Y410C possibly damaging Het
Csmd3 A G 15: 48,011,209 C560R probably damaging Het
Dchs1 T A 7: 105,754,355 E2993D probably benign Het
Dnah7a A G 1: 53,427,951 F3585L probably damaging Het
Dspp A G 5: 104,177,406 D545G unknown Het
Dusp7 T A 9: 106,370,766 S198T possibly damaging Het
Ell2 A T 13: 75,769,574 Q541L possibly damaging Het
Galntl6 T A 8: 58,427,823 I99F probably damaging Het
Gm609 T G 16: 45,417,908 H181P probably benign Het
Gnat3 G A 5: 18,015,366 probably null Het
Hykk T C 9: 54,946,516 I374T probably benign Het
Kcnd3 C T 3: 105,658,766 A421V probably damaging Het
Kcnt2 A G 1: 140,523,148 I722V possibly damaging Het
Krt1 C T 15: 101,846,187 G543S unknown Het
Krt13 A G 11: 100,121,224 L91P possibly damaging Het
Krtap4-13 A C 11: 99,809,528 S102A unknown Het
Lrp2 A G 2: 69,489,129 probably null Het
Lrriq1 C T 10: 103,221,427 V171I probably damaging Het
Map3k4 C G 17: 12,232,504 E1501Q probably damaging Het
Mapk11 C T 15: 89,146,376 V105M probably damaging Het
Mlph G A 1: 90,939,386 A377T probably damaging Het
Myo9a G A 9: 59,869,664 C1115Y probably benign Het
Nabp1 A T 1: 51,474,602 Y78* probably null Het
Nos2 T C 11: 78,957,591 F1108S possibly damaging Het
Oas2 T C 5: 120,733,481 K699R probably benign Het
Olfm5 T C 7: 104,160,893 D87G probably benign Het
Olfr15 C T 16: 3,839,087 T38M probably damaging Het
Oog3 A G 4: 144,158,128 F413L probably benign Het
Pik3r4 A G 9: 105,654,899 M557V probably benign Het
Pkhd1l1 A G 15: 44,484,400 T224A probably benign Het
Pknox2 A G 9: 36,894,413 S367P probably benign Het
Ppfia2 A G 10: 106,836,044 probably null Het
Ppm1e G A 11: 87,231,530 P534S probably damaging Het
Prepl T C 17: 85,083,231 T100A probably benign Het
Ptpn13 A G 5: 103,569,860 N1924S possibly damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,579,904 probably benign Het
Samd12 T A 15: 53,719,671 H89L possibly damaging Het
Sephs1 T A 2: 4,896,760 V211E probably benign Het
Setx C T 2: 29,148,615 T1704I probably benign Het
Sltm T C 9: 70,579,369 S439P possibly damaging Het
Sort1 G T 3: 108,346,678 Q553H probably damaging Het
Svs2 G T 2: 164,237,747 T80N probably benign Het
Tanc1 C A 2: 59,795,835 T512K probably damaging Het
Tas2r139 T A 6: 42,141,498 V188E probably damaging Het
Tesk2 C T 4: 116,741,712 R6W probably benign Het
Tex101 G T 7: 24,668,368 C186* probably null Het
Timp2 C T 11: 118,303,772 S197N probably benign Het
Tmem37 A T 1: 120,068,249 C33S probably damaging Het
Tmem69 T C 4: 116,553,038 D245G probably benign Het
Trak1 G A 9: 121,454,425 R419Q probably benign Het
Ube2j2 T A 4: 155,955,258 I14N probably damaging Het
Ush2a T A 1: 188,395,874 N694K possibly damaging Het
Utp20 A G 10: 88,778,261 V1277A probably damaging Het
Vmn2r100 C T 17: 19,531,954 S753F probably damaging Het
Vmn2r103 T C 17: 19,793,696 I250T probably benign Het
Zap70 G T 1: 36,778,458 A261S probably benign Het
Zdhhc6 A G 19: 55,314,309 W87R probably damaging Het
Zfp410 A T 12: 84,325,736 D112V probably damaging Het
Zfp462 T C 4: 55,012,981 F501S probably damaging Het
Other mutations in Fzd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01560:Fzd1 APN 5 4756037 missense probably benign 0.11
R0055:Fzd1 UTSW 5 4756037 missense possibly damaging 0.86
R0055:Fzd1 UTSW 5 4756037 missense possibly damaging 0.86
R0402:Fzd1 UTSW 5 4755702 missense possibly damaging 0.46
R1376:Fzd1 UTSW 5 4757174 missense possibly damaging 0.84
R1376:Fzd1 UTSW 5 4757174 missense possibly damaging 0.84
R1585:Fzd1 UTSW 5 4756278 missense probably damaging 1.00
R1606:Fzd1 UTSW 5 4757514 nonsense probably null
R1708:Fzd1 UTSW 5 4755791 missense possibly damaging 0.82
R1767:Fzd1 UTSW 5 4756812 missense probably benign
R1803:Fzd1 UTSW 5 4756385 missense probably damaging 0.97
R1909:Fzd1 UTSW 5 4757481 missense probably benign 0.01
R2990:Fzd1 UTSW 5 4755758 missense probably damaging 0.98
R4446:Fzd1 UTSW 5 4755777 missense probably damaging 1.00
R4631:Fzd1 UTSW 5 4755865 nonsense probably null
R4633:Fzd1 UTSW 5 4755865 nonsense probably null
R5110:Fzd1 UTSW 5 4756448 missense probably benign 0.00
R6406:Fzd1 UTSW 5 4756089 missense probably damaging 1.00
R6489:Fzd1 UTSW 5 4757336 missense probably benign 0.33
R6642:Fzd1 UTSW 5 4755696 missense probably damaging 1.00
R7095:Fzd1 UTSW 5 4755824 small deletion probably benign
R7150:Fzd1 UTSW 5 4756145 missense probably benign 0.14
R7204:Fzd1 UTSW 5 4755980 missense probably damaging 1.00
X0028:Fzd1 UTSW 5 4756958 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATTCCTTGGGGCCAGCTTC -3'
(R):5'- CCGCACCATCATGAAGCATG -3'

Sequencing Primer
(F):5'- GGTAAGCCTCGTGTAGAACTTCC -3'
(R):5'- TCATGAAGCATGACGGCAC -3'
Posted On2015-10-08