Incidental Mutation 'R0211:Fuz'
ID 35528
Institutional Source Beutler Lab
Gene Symbol Fuz
Ensembl Gene ENSMUSG00000011658
Gene Name fuzzy planar cell polarity protein
Synonyms 2600013E07Rik, b2b1273Clo
MMRRC Submission 038462-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.199) question?
Stock # R0211 (G1)
Quality Score 120
Status Not validated
Chromosome 7
Chromosomal Location 44545517-44552053 bp(+) (GRCm39)
Type of Mutation splice site (1970 bp from exon)
DNA Base Change (assembly) T to A at 44548446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000071207] [ENSMUST00000085399] [ENSMUST00000107857] [ENSMUST00000166972] [ENSMUST00000167930] [ENSMUST00000207069] [ENSMUST00000207485] [ENSMUST00000208179] [ENSMUST00000208600] [ENSMUST00000207154] [ENSMUST00000207939] [ENSMUST00000209039] [ENSMUST00000209163] [ENSMUST00000209132]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000071207
AA Change: L275H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071194
Gene: ENSMUSG00000011658
AA Change: L275H

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 null
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 null
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 null
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 null
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 damaging
Transcript: ENSMUST00000207485
AA Change: L239H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000208179
AA Change: L275H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207833
Predicted Effect probably benign
Transcript: ENSMUST00000208600
Predicted Effect probably null
Transcript: ENSMUST00000208472
Predicted Effect probably benign
Transcript: ENSMUST00000207154
Predicted Effect probably benign
Transcript: ENSMUST00000208908
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207426
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207480
Predicted Effect probably benign
Transcript: ENSMUST00000207939
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208484
Predicted Effect probably damaging
Transcript: ENSMUST00000209039
AA Change: L209H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209067
Predicted Effect probably benign
Transcript: ENSMUST00000209163
Predicted Effect probably benign
Transcript: ENSMUST00000209132
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.0%
  • 10x: 94.6%
  • 20x: 89.0%
Validation Efficiency 100% (1/1)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,262,870 (GRCm39) L1401P possibly damaging Het
4930503B20Rik C T 3: 146,356,251 (GRCm39) R219H probably benign Het
Abcc9 T A 6: 142,634,710 (GRCm39) I185F probably benign Het
Adgrf1 T C 17: 43,607,581 (GRCm39) L100P probably damaging Het
Akt1 T C 12: 112,621,576 (GRCm39) T407A probably damaging Het
Alk C T 17: 72,910,511 (GRCm39) R65H probably damaging Het
Aplp2 T C 9: 31,069,086 (GRCm39) E525G probably damaging Het
Arhgef12 G A 9: 42,883,300 (GRCm39) R1411C probably damaging Het
Arnt T A 3: 95,383,460 (GRCm39) M242K probably damaging Het
Atad5 T G 11: 79,986,473 (GRCm39) V520G probably benign Het
Avpr1a T A 10: 122,285,374 (GRCm39) M222K possibly damaging Het
Cbr2 T A 11: 120,621,614 (GRCm39) I88L probably benign Het
Cc2d2a T A 5: 43,845,608 (GRCm39) probably null Het
Ccdc51 T C 9: 108,918,441 (GRCm39) M10T probably benign Het
Cntnap5b T A 1: 100,406,099 (GRCm39) D1136E possibly damaging Het
Coil T A 11: 88,872,979 (GRCm39) S447T probably damaging Het
Cryba1 T A 11: 77,609,693 (GRCm39) Y179F probably damaging Het
Dcaf4 T A 12: 83,582,735 (GRCm39) F277I probably damaging Het
Ddost G A 4: 138,036,913 (GRCm39) V159M probably damaging Het
Dnaaf4 A T 9: 72,868,649 (GRCm39) R127S possibly damaging Het
Dnajb6 T C 5: 29,990,077 (GRCm39) probably benign Het
Dnase2a A G 8: 85,635,417 (GRCm39) probably benign Het
Dscam T C 16: 96,517,279 (GRCm39) I877V possibly damaging Het
Efcc1 A T 6: 87,726,136 (GRCm39) T312S probably benign Het
Elp1 T A 4: 56,795,545 (GRCm39) I143F probably damaging Het
Ermard A T 17: 15,242,205 (GRCm39) Q127L probably damaging Het
F2 T C 2: 91,460,503 (GRCm39) E329G probably damaging Het
Foxc2 T A 8: 121,843,355 (GRCm39) M1K probably null Het
Ggnbp2 G A 11: 84,731,139 (GRCm39) T325M probably damaging Het
Gm6408 T A 5: 146,419,870 (GRCm39) F115I probably benign Het
Gp6 C T 7: 4,376,208 (GRCm39) probably null Het
Grin2a A G 16: 9,397,037 (GRCm39) S1017P possibly damaging Het
H2-T5 T C 17: 36,478,899 (GRCm39) T117A probably damaging Het
Hmmr A T 11: 40,605,635 (GRCm39) M318K probably damaging Het
Ifi205 T C 1: 173,855,994 (GRCm39) E12G probably benign Het
Ift74 C T 4: 94,567,492 (GRCm39) T395I probably benign Het
Irf8 A T 8: 121,466,714 (GRCm39) D53V probably damaging Het
Itgad A G 7: 127,803,813 (GRCm39) Y69C probably damaging Het
Itpr2 C A 6: 146,096,111 (GRCm39) R2084L probably benign Het
Krt4 C A 15: 101,831,217 (GRCm39) S228I possibly damaging Het
Lpin3 A T 2: 160,740,601 (GRCm39) D382V probably damaging Het
Ltbp3 T C 19: 5,802,171 (GRCm39) probably null Het
Map4k3 C T 17: 80,952,270 (GRCm39) A179T probably damaging Het
Nck1 A T 9: 100,379,820 (GRCm39) W144R probably damaging Het
Ndufb9 A T 15: 58,811,131 (GRCm39) Q139L possibly damaging Het
Ngfr T G 11: 95,462,738 (GRCm39) E300A probably damaging Het
Nin T G 12: 70,061,649 (GRCm39) T2072P probably damaging Het
Nop2 T G 6: 125,118,307 (GRCm39) L529R probably damaging Het
Nrm T A 17: 36,175,503 (GRCm39) L203Q probably damaging Het
Nynrin T C 14: 56,109,255 (GRCm39) F1454S probably benign Het
Or10ak7 T A 4: 118,791,467 (GRCm39) M191L probably benign Het
Or5b101 T C 19: 13,005,646 (GRCm39) T16A possibly damaging Het
Or8j3c A C 2: 86,253,451 (GRCm39) S190A probably damaging Het
Os9 A G 10: 126,956,905 (GRCm39) V27A probably damaging Het
Osbpl9 T G 4: 108,930,321 (GRCm39) T332P probably damaging Het
Pcdhb10 A T 18: 37,547,059 (GRCm39) M712L probably benign Het
Pcx C T 19: 4,670,227 (GRCm39) A935V probably damaging Het
Pdzd7 A G 19: 45,022,106 (GRCm39) V514A possibly damaging Het
Plin4 C T 17: 56,409,242 (GRCm39) G1326D probably damaging Het
Plxnb1 T A 9: 108,932,731 (GRCm39) Y568* probably null Het
Pmfbp1 T A 8: 110,268,372 (GRCm39) V973D probably benign Het
Ppp2r1b T C 9: 50,772,925 (GRCm39) V70A probably benign Het
Prkar2b C A 12: 32,022,183 (GRCm39) V201L probably benign Het
Rgr T G 14: 36,768,925 (GRCm39) T37P probably damaging Het
Ripk3 A T 14: 56,025,375 (GRCm39) L63Q probably damaging Het
Rpusd2 A G 2: 118,868,893 (GRCm39) S439G probably benign Het
Serac1 T A 17: 6,100,335 (GRCm39) R438S possibly damaging Het
Slc19a1 T A 10: 76,874,300 (GRCm39) S24T possibly damaging Het
Slc6a21 A C 7: 44,937,667 (GRCm39) T653P possibly damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spdef C T 17: 27,933,894 (GRCm39) R309H probably damaging Het
Srp68 A T 11: 116,156,377 (GRCm39) Y84N probably damaging Het
Syne2 A T 12: 76,144,731 (GRCm39) Q6299L probably damaging Het
Tmem63b T A 17: 45,972,839 (GRCm39) M652L probably benign Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tnk1 A G 11: 69,746,007 (GRCm39) V306A probably damaging Het
Tnnc2 T A 2: 164,619,404 (GRCm39) I147F probably damaging Het
Tnni3k C T 3: 154,760,981 (GRCm39) probably benign Het
Togaram2 T A 17: 72,036,243 (GRCm39) V911D probably damaging Het
Tyw3 T C 3: 154,293,132 (GRCm39) N181S probably damaging Het
Unc79 T A 12: 103,039,051 (GRCm39) S682T probably benign Het
Vps13d A G 4: 144,841,348 (GRCm39) L2634S probably benign Het
Wasl G T 6: 24,633,892 (GRCm39) A124E probably damaging Het
Zfp287 T C 11: 62,605,743 (GRCm39) H388R probably damaging Het
Zfp335 T C 2: 164,749,612 (GRCm39) T262A probably damaging Het
Zfp457 C G 13: 67,441,211 (GRCm39) G359R probably benign Het
Zfp536 T A 7: 37,267,874 (GRCm39) E514V probably damaging Het
Zfp872 T A 9: 22,111,469 (GRCm39) I316N probably damaging Het
Other mutations in Fuz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01918:Fuz APN 7 44,546,383 (GRCm39) missense probably damaging 1.00
R0586:Fuz UTSW 7 44,547,982 (GRCm39) missense possibly damaging 0.59
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'- TTGTTGACCTTGACGCTGCTGC -3'
(R):5'- ACCTTTATCCTTGGAGGGCTCCAC -3'

Sequencing Primer
(F):5'- CCTGGAGCTGTGTCTGC -3'
(R):5'- AGCGTCGCAGTTCCAAG -3'
Posted On 2013-05-09