Incidental Mutation 'R0586:Fuz'
ID 55759
Institutional Source Beutler Lab
Gene Symbol Fuz
Ensembl Gene ENSMUSG00000011658
Gene Name fuzzy planar cell polarity protein
Synonyms 2600013E07Rik, b2b1273Clo
MMRRC Submission 038776-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.199) question?
Stock # R0586 (G1)
Quality Score 214
Status Validated
Chromosome 7
Chromosomal Location 44545517-44552053 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44547982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 183 (V183A)
Ref Sequence ENSEMBL: ENSMUSP00000146768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071207] [ENSMUST00000085399] [ENSMUST00000107857] [ENSMUST00000166972] [ENSMUST00000167930] [ENSMUST00000207069] [ENSMUST00000207939] [ENSMUST00000208179] [ENSMUST00000208600] [ENSMUST00000207485] [ENSMUST00000207154] [ENSMUST00000209163] [ENSMUST00000209039] [ENSMUST00000209132]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000071207
AA Change: V183A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000071194
Gene: ENSMUSG00000011658
AA Change: V183A

DomainStartEndE-ValueType
low complexity region 234 259 N/A INTRINSIC
low complexity region 292 310 N/A INTRINSIC
low complexity region 382 391 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000085399
SMART Domains Protein: ENSMUSP00000082519
Gene: ENSMUSG00000060279

DomainStartEndE-ValueType
Pfam:Adaptin_N 29 591 7.5e-150 PFAM
low complexity region 646 657 N/A INTRINSIC
low complexity region 665 675 N/A INTRINSIC
low complexity region 699 741 N/A INTRINSIC
Alpha_adaptinC2 745 858 4.49e-23 SMART
Pfam:Alpha_adaptin_C 864 972 9.4e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107857
SMART Domains Protein: ENSMUSP00000103489
Gene: ENSMUSG00000060279

DomainStartEndE-ValueType
Pfam:Adaptin_N 29 591 7e-150 PFAM
low complexity region 646 657 N/A INTRINSIC
low complexity region 665 675 N/A INTRINSIC
low complexity region 706 719 N/A INTRINSIC
Alpha_adaptinC2 723 836 4.49e-23 SMART
Pfam:Alpha_adaptin_C 842 950 9.1e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166972
SMART Domains Protein: ENSMUSP00000127842
Gene: ENSMUSG00000060279

DomainStartEndE-ValueType
Pfam:Adaptin_N 29 591 2e-149 PFAM
low complexity region 646 657 N/A INTRINSIC
low complexity region 665 675 N/A INTRINSIC
low complexity region 699 741 N/A INTRINSIC
Alpha_adaptinC2 745 858 4.49e-23 SMART
Pfam:Alpha_adaptin_C 864 972 5.4e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167930
SMART Domains Protein: ENSMUSP00000127497
Gene: ENSMUSG00000060279

DomainStartEndE-ValueType
Pfam:Adaptin_N 29 591 7e-150 PFAM
low complexity region 646 657 N/A INTRINSIC
low complexity region 665 675 N/A INTRINSIC
low complexity region 706 719 N/A INTRINSIC
Alpha_adaptinC2 723 836 4.49e-23 SMART
Pfam:Alpha_adaptin_C 842 950 9.1e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207069
Predicted Effect probably benign
Transcript: ENSMUST00000207939
AA Change: V140A

PolyPhen 2 Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208179
AA Change: V183A

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000208600
AA Change: Y179H

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect probably benign
Transcript: ENSMUST00000207485
AA Change: V147A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000208472
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207480
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208484
Predicted Effect probably benign
Transcript: ENSMUST00000208908
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207426
Predicted Effect probably benign
Transcript: ENSMUST00000207154
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208291
Predicted Effect probably benign
Transcript: ENSMUST00000209163
AA Change: V70A

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000209039
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209067
Predicted Effect probably benign
Transcript: ENSMUST00000209132
Meta Mutation Damage Score 0.1329 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.5%
  • 20x: 94.4%
Validation Efficiency 100% (74/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a planar cell polarity protein that is involved in ciliogenesis and directional cell movement. Knockout studies in mice exhibit neural tube defects and defective cilia, and mutations in this gene are associated with neural tube defects in humans. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit neural tube closure defects, abnormal craniofacial morphology, abnormal skeletal morphology, polydactyly, anopthalmia, pulmonary hopyplasia, and cardiac outflow tract defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A T 4: 53,092,860 (GRCm39) V308E probably benign Het
Amy1 A G 3: 113,356,418 (GRCm39) probably benign Het
Astn2 C T 4: 66,103,379 (GRCm39) V345M unknown Het
Brwd1 T C 16: 95,844,286 (GRCm39) E756G probably damaging Het
Ccpg1 C T 9: 72,909,103 (GRCm39) L135F probably benign Het
Cecr2 C T 6: 120,734,845 (GRCm39) H694Y probably damaging Het
Cfh G A 1: 140,110,920 (GRCm39) T14I probably damaging Het
Cfhr2 G A 1: 139,741,172 (GRCm39) R268* probably null Het
Clca3a1 T A 3: 144,738,350 (GRCm39) I53L probably benign Het
Clcn6 A G 4: 148,123,206 (GRCm39) probably benign Het
Cnfn C T 7: 25,067,256 (GRCm39) V98I probably benign Het
Cntnap1 C T 11: 101,077,840 (GRCm39) R1122W probably damaging Het
Cpne9 A T 6: 113,272,024 (GRCm39) E384V probably damaging Het
Ctr9 T C 7: 110,648,705 (GRCm39) probably benign Het
Ctsj T A 13: 61,151,515 (GRCm39) probably benign Het
Cyp2c39 A C 19: 39,501,934 (GRCm39) probably benign Het
Dock5 A C 14: 68,046,481 (GRCm39) I767S probably damaging Het
Eftud2 T C 11: 102,737,446 (GRCm39) T552A probably damaging Het
Epdr1 A G 13: 19,778,715 (GRCm39) I25T probably damaging Het
Fcgbp A T 7: 27,789,138 (GRCm39) D568V probably damaging Het
Fcgbpl1 T A 7: 27,836,516 (GRCm39) V145D probably damaging Het
Fhip1b T C 7: 105,038,654 (GRCm39) E195G probably damaging Het
Frem2 T A 3: 53,555,342 (GRCm39) T1732S probably damaging Het
Grb7 T C 11: 98,344,046 (GRCm39) S284P probably damaging Het
Hoxb4 G T 11: 96,209,713 (GRCm39) G40C probably damaging Het
Kcnn1 T C 8: 71,316,513 (GRCm39) probably benign Het
Kmt2d C A 15: 98,733,088 (GRCm39) probably benign Het
L3mbtl3 A G 10: 26,203,732 (GRCm39) V366A unknown Het
Ldlr G A 9: 21,651,040 (GRCm39) R486H probably benign Het
Lnpep A T 17: 17,795,658 (GRCm39) probably benign Het
Mical3 A T 6: 121,006,602 (GRCm39) probably benign Het
Myh15 T C 16: 48,992,250 (GRCm39) probably benign Het
Nup155 T A 15: 8,159,716 (GRCm39) H542Q probably benign Het
Opn4 A G 14: 34,320,930 (GRCm39) probably benign Het
Or13a20 T C 7: 140,231,976 (GRCm39) F28S probably benign Het
Or4a68 T A 2: 89,269,698 (GRCm39) R308S possibly damaging Het
Or6c68 A G 10: 129,157,916 (GRCm39) I141M probably benign Het
Or8g4 A T 9: 39,662,414 (GRCm39) H244L probably damaging Het
Or8h10 T C 2: 86,809,126 (GRCm39) N5D probably damaging Het
Pak3 TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC X: 142,526,889 (GRCm39) probably benign Het
Parp14 T C 16: 35,661,382 (GRCm39) K1522R probably benign Het
Pkhd1 A T 1: 20,594,335 (GRCm39) D1259E probably benign Het
Pogz C T 3: 94,786,664 (GRCm39) A1084V probably damaging Het
Popdc3 G A 10: 45,191,359 (GRCm39) V157M probably benign Het
Prrt4 T C 6: 29,171,183 (GRCm39) Y423C probably damaging Het
Qrich1 C T 9: 108,411,719 (GRCm39) H415Y probably damaging Het
Rabgap1 A G 2: 37,433,235 (GRCm39) N801D probably benign Het
Rb1 A G 14: 73,525,124 (GRCm39) probably benign Het
Rp1 A T 1: 4,418,060 (GRCm39) N1017K possibly damaging Het
Ryr2 T C 13: 11,650,445 (GRCm39) D356G probably null Het
Skint8 C G 4: 111,794,126 (GRCm39) P172R probably damaging Het
Slc12a8 T G 16: 33,478,600 (GRCm39) M643R possibly damaging Het
Sult1c2 A T 17: 54,271,113 (GRCm39) probably benign Het
Tasor2 A G 13: 3,640,321 (GRCm39) L272P probably damaging Het
Tcaf1 T A 6: 42,650,473 (GRCm39) M869L probably damaging Het
Tecpr1 T C 5: 144,154,219 (GRCm39) N78S probably damaging Het
Tectb A T 19: 55,170,356 (GRCm39) Y69F probably damaging Het
Them4 A T 3: 94,237,101 (GRCm39) N187I possibly damaging Het
Tm9sf3 A G 19: 41,244,582 (GRCm39) probably null Het
Tnik G T 3: 28,631,510 (GRCm39) probably benign Het
Tns2 G T 15: 102,018,020 (GRCm39) probably benign Het
Tnxb A G 17: 34,891,118 (GRCm39) D487G probably damaging Het
Trim33 T A 3: 103,217,660 (GRCm39) C202S probably damaging Het
Trpm2 T A 10: 77,759,350 (GRCm39) I1145F probably damaging Het
Trpv2 A G 11: 62,483,596 (GRCm39) T478A probably benign Het
Ube2e3 T C 2: 78,750,334 (GRCm39) Y187H probably benign Het
Ubxn11 A G 4: 133,836,963 (GRCm39) R64G possibly damaging Het
Wwtr1 T C 3: 57,366,487 (GRCm39) T407A probably damaging Het
Zfyve26 A T 12: 79,315,502 (GRCm39) S1325T possibly damaging Het
Other mutations in Fuz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01918:Fuz APN 7 44,546,383 (GRCm39) missense probably damaging 1.00
R0211:Fuz UTSW 7 44,548,446 (GRCm39) splice site probably null
R1028:Fuz UTSW 7 44,546,350 (GRCm39) missense probably damaging 1.00
R1720:Fuz UTSW 7 44,546,415 (GRCm39) missense probably damaging 1.00
R4969:Fuz UTSW 7 44,549,718 (GRCm39) missense probably damaging 1.00
R5278:Fuz UTSW 7 44,545,701 (GRCm39) missense probably benign 0.11
R5870:Fuz UTSW 7 44,549,742 (GRCm39) missense probably damaging 1.00
R6972:Fuz UTSW 7 44,546,755 (GRCm39) critical splice donor site probably benign
R7440:Fuz UTSW 7 44,545,996 (GRCm39) missense probably damaging 1.00
R8034:Fuz UTSW 7 44,545,684 (GRCm39) start codon destroyed probably null
R8486:Fuz UTSW 7 44,548,092 (GRCm39) missense probably damaging 1.00
R9065:Fuz UTSW 7 44,546,721 (GRCm39) missense probably damaging 1.00
R9147:Fuz UTSW 7 44,549,710 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGTATGACTTGGCAGGAGCAGC -3'
(R):5'- AGCGTCAAGGTCAACAACCTGTG -3'

Sequencing Primer
(F):5'- GGAAGGTTAAAGTATTCTCGTTCAC -3'
(R):5'- CTGTAGCCGGGCACAAGATAG -3'
Posted On 2013-07-11