Incidental Mutation 'R1173:Vangl2'
ID 99648
Institutional Source Beutler Lab
Gene Symbol Vangl2
Ensembl Gene ENSMUSG00000026556
Gene Name VANGL planar cell polarity 2
Synonyms Lootl, Ltap, C530001F03Rik, ska17, strabismus, Lpp1, ska, loop-tail
MMRRC Submission 039246-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1173 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 171828527-171856011 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 171832353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 501 (T501N)
Ref Sequence ENSEMBL: ENSMUSP00000106895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027837] [ENSMUST00000111263] [ENSMUST00000111264]
AlphaFold Q91ZD4
Predicted Effect probably damaging
Transcript: ENSMUST00000027837
AA Change: T461N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027837
Gene: ENSMUSG00000026556
AA Change: T461N

DomainStartEndE-ValueType
Pfam:Strabismus 22 521 3.1e-267 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111263
AA Change: T461N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106894
Gene: ENSMUSG00000026556
AA Change: T461N

DomainStartEndE-ValueType
Pfam:Strabismus 22 521 3.1e-267 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111264
AA Change: T501N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106895
Gene: ENSMUSG00000026556
AA Change: T501N

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 0.6467 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 87.9%
Validation Efficiency 99% (72/73)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl A T 2: 93,696,589 (GRCm39) probably benign Het
Adam30 G A 3: 98,070,222 (GRCm39) S685N probably benign Het
Adamts12 T C 15: 11,071,843 (GRCm39) V129A probably benign Het
Agxt2 T C 15: 10,373,837 (GRCm39) F81S probably damaging Het
Ahnak2 A T 12: 112,749,409 (GRCm39) I186N probably damaging Het
Amz1 A T 5: 140,737,691 (GRCm39) probably null Het
Anapc5 G A 5: 122,926,481 (GRCm39) A619V possibly damaging Het
Aoc1l3 C A 6: 48,967,173 (GRCm39) P707H probably damaging Het
Bbox1 T C 2: 110,095,956 (GRCm39) D336G probably damaging Het
Bivm A G 1: 44,165,942 (GRCm39) T131A probably benign Het
Bpi A T 2: 158,109,660 (GRCm39) I203F probably benign Het
Cd151 A C 7: 141,050,569 (GRCm39) T241P probably damaging Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Cdh23 G A 10: 60,148,171 (GRCm39) probably benign Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Dclre1b A C 3: 103,711,192 (GRCm39) S240A probably benign Het
Ddc A C 11: 11,796,634 (GRCm39) probably null Het
Dkk1 T C 19: 30,524,650 (GRCm39) R252G probably damaging Het
Dmrtc2 T A 7: 24,573,738 (GRCm39) M191K possibly damaging Het
Eml6 A G 11: 29,699,824 (GRCm39) S1771P possibly damaging Het
Emx1 T C 6: 85,165,353 (GRCm39) probably benign Het
Fah T C 7: 84,250,344 (GRCm39) M1V probably null Het
Fmo6 A T 1: 162,753,710 (GRCm39) M144K probably damaging Het
Frem1 A G 4: 82,868,589 (GRCm39) V1445A probably benign Het
Fsd2 T C 7: 81,209,518 (GRCm39) D108G probably benign Het
Gfm2 A G 13: 97,301,708 (GRCm39) probably null Het
Ghrhr T A 6: 55,365,254 (GRCm39) L416* probably null Het
Glipr1l2 C A 10: 111,919,371 (GRCm39) L31I possibly damaging Het
Gm19965 T A 1: 116,748,550 (GRCm39) probably benign Het
Gpr149 A G 3: 62,511,888 (GRCm39) L37P probably damaging Het
Hoxa9 A G 6: 52,202,693 (GRCm39) I131T probably damaging Het
Htra4 T C 8: 25,520,635 (GRCm39) D342G possibly damaging Het
Idh1 G T 1: 65,200,319 (GRCm39) N348K probably benign Het
Impdh2 T C 9: 108,439,028 (GRCm39) F99S probably benign Het
Kank4 T C 4: 98,653,806 (GRCm39) Y874C probably damaging Het
Kazn A T 4: 141,886,349 (GRCm39) probably benign Het
Kcnq3 T A 15: 65,871,891 (GRCm39) T593S probably benign Het
Lamc1 T C 1: 153,122,977 (GRCm39) probably benign Het
Magi3 A G 3: 103,968,946 (GRCm39) probably null Het
Map3k19 A G 1: 127,751,617 (GRCm39) V578A probably benign Het
Meox2 T C 12: 37,159,151 (GRCm39) C108R possibly damaging Het
Nlrp9c C A 7: 26,079,860 (GRCm39) C722F probably damaging Het
Or2a5 T C 6: 42,874,285 (GRCm39) V300A probably benign Het
Pde10a C T 17: 9,139,378 (GRCm39) probably benign Het
Ppfia4 A G 1: 134,260,021 (GRCm39) probably benign Het
Psg18 T C 7: 18,088,742 (GRCm39) M1V probably null Het
Qtrt1 A G 9: 21,323,782 (GRCm39) T136A probably benign Het
Retsat T C 6: 72,580,634 (GRCm39) probably benign Het
Rxfp2 T C 5: 149,975,021 (GRCm39) V210A probably benign Het
Sfswap G A 5: 129,584,207 (GRCm39) probably null Het
Slc16a7 A T 10: 125,067,241 (GRCm39) L133I possibly damaging Het
Slc30a3 A T 5: 31,244,154 (GRCm39) M376K probably damaging Het
Spmip4 T A 6: 50,566,121 (GRCm39) K118M probably damaging Het
Srbd1 C T 17: 86,405,940 (GRCm39) C620Y probably null Het
Trip10 T A 17: 57,560,363 (GRCm39) L100Q probably damaging Het
Tyrp1 C T 4: 80,763,105 (GRCm39) Q331* probably null Het
Vdr A T 15: 97,767,214 (GRCm39) Y185N probably benign Het
Vmn1r123 C T 7: 20,896,257 (GRCm39) P50S probably damaging Het
Vmn1r158 T A 7: 22,489,870 (GRCm39) H113L probably benign Het
Vmn2r12 A T 5: 109,240,720 (GRCm39) I131N probably benign Het
Vmn2r72 T A 7: 85,401,152 (GRCm39) E89V probably damaging Het
Xrcc6 A G 15: 81,915,364 (GRCm39) D94G probably damaging Het
Zbtb32 T A 7: 30,290,692 (GRCm39) E201V possibly damaging Het
Zfp185 A T X: 72,042,929 (GRCm39) E138D possibly damaging Het
Zmynd11 T A 13: 9,739,585 (GRCm39) H437L probably damaging Het
Other mutations in Vangl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03117:Vangl2 APN 1 171,840,415 (GRCm39) missense probably damaging 1.00
crimp UTSW 1 171,833,694 (GRCm39) missense probably damaging 1.00
Piggy UTSW 1 171,837,230 (GRCm39) missense possibly damaging 0.95
R0594:Vangl2 UTSW 1 171,832,224 (GRCm39) missense probably damaging 1.00
R0718:Vangl2 UTSW 1 171,833,784 (GRCm39) missense probably damaging 1.00
R1162:Vangl2 UTSW 1 171,832,414 (GRCm39) missense probably damaging 1.00
R1174:Vangl2 UTSW 1 171,832,353 (GRCm39) missense probably damaging 1.00
R1175:Vangl2 UTSW 1 171,832,353 (GRCm39) missense probably damaging 1.00
R1857:Vangl2 UTSW 1 171,837,464 (GRCm39) missense probably damaging 0.99
R2290:Vangl2 UTSW 1 171,836,113 (GRCm39) nonsense probably null
R2421:Vangl2 UTSW 1 171,835,526 (GRCm39) missense probably damaging 1.00
R4024:Vangl2 UTSW 1 171,835,608 (GRCm39) missense probably benign 0.00
R4809:Vangl2 UTSW 1 171,837,230 (GRCm39) missense possibly damaging 0.95
R4980:Vangl2 UTSW 1 171,837,132 (GRCm39) missense probably damaging 1.00
R5761:Vangl2 UTSW 1 171,833,694 (GRCm39) missense probably damaging 1.00
R8053:Vangl2 UTSW 1 171,832,303 (GRCm39) missense probably damaging 1.00
R8297:Vangl2 UTSW 1 171,837,513 (GRCm39) missense possibly damaging 0.93
Predicted Primers
Posted On 2014-01-15