Incidental Mutation 'R1162:Vangl2'
ID100440
Institutional Source Beutler Lab
Gene Symbol Vangl2
Ensembl Gene ENSMUSG00000026556
Gene NameVANGL planar cell polarity 2
SynonymsC530001F03Rik, Ltap, loop-tail, Lpp1, strabismus, ska, ska17
MMRRC Submission 039235-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1162 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location172000960-172028444 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 172004847 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 481 (Y481H)
Ref Sequence ENSEMBL: ENSMUSP00000106895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027837] [ENSMUST00000111263] [ENSMUST00000111264]
Predicted Effect probably damaging
Transcript: ENSMUST00000027837
AA Change: Y441H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027837
Gene: ENSMUSG00000026556
AA Change: Y441H

DomainStartEndE-ValueType
Pfam:Strabismus 22 521 3.1e-267 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111263
AA Change: Y441H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106894
Gene: ENSMUSG00000026556
AA Change: Y441H

DomainStartEndE-ValueType
Pfam:Strabismus 22 521 3.1e-267 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111264
AA Change: Y481H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106895
Gene: ENSMUSG00000026556
AA Change: Y481H

DomainStartEndE-ValueType
Pfam:Strabismus 19 272 5e-115 PFAM
Pfam:Strabismus 298 560 1.3e-124 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148363
Meta Mutation Damage Score 0.9456 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.9%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane protein involved in the regulation of planar cell polarity, especially in the stereociliary bundles of the cochlea. The encoded protein transmits directional signals to individual cells or groups of cells in epithelial sheets. This protein is also involved in the development of the neural plate. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous animals do not survive past birth. Developmental defects are seen in the nervous, cardiovascular, skeletal, vestibular, and respiratory systems. Kinked or looped tails are noted in heterozygotes with partial penetrance, along with a head wobble and some nervous system deficits. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430015G10Rik T C 4: 156,122,418 probably null Het
Adamts12 T A 15: 11,277,458 probably null Het
Cops4 T C 5: 100,530,157 probably benign Het
Cul7 T A 17: 46,663,190 L1467H probably damaging Het
Dgkh A G 14: 78,624,451 C125R probably damaging Het
Dgkz A T 2: 91,944,444 I65N probably damaging Het
Dock10 T A 1: 80,568,842 H743L possibly damaging Het
Dscaml1 T C 9: 45,752,349 probably benign Het
Flt4 C T 11: 49,636,339 probably benign Het
Gbe1 A T 16: 70,381,850 probably benign Het
Gm14685 G T X: 73,127,655 G218C probably damaging Het
Gm7275 A G 16: 48,074,032 noncoding transcript Het
Gpatch1 A G 7: 35,303,480 probably benign Het
Gpr137c A G 14: 45,244,158 I144V possibly damaging Het
Igsf9b T C 9: 27,326,889 S563P probably benign Het
Insl5 C T 4: 103,018,241 R104Q probably benign Het
Kcnj2 T A 11: 111,072,967 V395D probably benign Het
Ksr2 A G 5: 117,554,955 probably benign Het
Lrrc4 C A 6: 28,831,084 L177F probably damaging Het
Mapkbp1 A G 2: 120,025,318 E1506G possibly damaging Het
Morc3 A C 16: 93,853,108 Y259S probably damaging Het
Mrpl43 T G 19: 45,006,358 S13R possibly damaging Het
Myh4 A G 11: 67,258,613 N1724D probably damaging Het
Nab1 A G 1: 52,490,027 M237T probably damaging Het
Nav2 A G 7: 49,536,040 probably benign Het
Nfix G A 8: 84,726,526 R300C probably damaging Het
Nov T A 15: 54,747,782 C104* probably null Het
Nup155 A T 15: 8,157,760 H1391L probably damaging Het
Olfr132 A T 17: 38,131,093 V33D possibly damaging Het
Olfr194 T C 16: 59,119,372 R233G probably damaging Het
Olfr508 A G 7: 108,630,913 N307S probably benign Het
Phf2 A T 13: 48,819,641 probably benign Het
Ppef2 A C 5: 92,253,121 F13L probably benign Het
Sap130 C T 18: 31,648,173 P130S probably damaging Het
Scn11a A G 9: 119,805,644 probably benign Het
Sec31b C A 19: 44,517,648 E940* probably null Het
Sgce A G 6: 4,691,419 probably benign Het
Sh3glb2 A T 2: 30,350,588 I155N probably damaging Het
Sirt2 A T 7: 28,785,822 D218V probably damaging Het
Slc16a10 T C 10: 40,076,553 H315R probably benign Het
Sox5 A G 6: 143,960,812 Y306H probably damaging Het
Sucla2 C T 14: 73,560,634 probably benign Het
Tab2 A G 10: 7,924,719 V23A probably damaging Het
Trak1 G T 9: 121,453,341 V429F possibly damaging Het
Trat1 T C 16: 48,740,209 S102G possibly damaging Het
Trub1 G A 19: 57,472,759 V156I probably benign Het
Tspan32 T A 7: 143,006,998 M61K probably damaging Het
Unc13a T A 8: 71,647,917 T1076S probably benign Het
Vmn2r105 C T 17: 20,227,711 E284K probably benign Het
Vmn2r60 A T 7: 42,195,771 I853F probably benign Het
Yrdc T C 4: 124,854,461 probably benign Het
Zfp595 A T 13: 67,317,195 C335S probably damaging Het
Zfp872 A G 9: 22,199,614 S149G possibly damaging Het
Other mutations in Vangl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03117:Vangl2 APN 1 172012848 missense probably damaging 1.00
crimp UTSW 1 172006127 missense probably damaging 1.00
Piggy UTSW 1 172009663 missense possibly damaging 0.95
R0594:Vangl2 UTSW 1 172004657 missense probably damaging 1.00
R0718:Vangl2 UTSW 1 172006217 missense probably damaging 1.00
R1173:Vangl2 UTSW 1 172004786 missense probably damaging 1.00
R1174:Vangl2 UTSW 1 172004786 missense probably damaging 1.00
R1175:Vangl2 UTSW 1 172004786 missense probably damaging 1.00
R1857:Vangl2 UTSW 1 172009897 missense probably damaging 0.99
R2290:Vangl2 UTSW 1 172008546 nonsense probably null
R2421:Vangl2 UTSW 1 172007959 missense probably damaging 1.00
R4024:Vangl2 UTSW 1 172008041 missense probably benign 0.00
R4809:Vangl2 UTSW 1 172009663 missense possibly damaging 0.95
R4980:Vangl2 UTSW 1 172009565 missense probably damaging 1.00
R5761:Vangl2 UTSW 1 172006127 missense probably damaging 1.00
R8053:Vangl2 UTSW 1 172004736 missense probably damaging 1.00
R8297:Vangl2 UTSW 1 172009946 missense possibly damaging 0.93
Predicted Primers
Posted On2014-01-15