Incidental Mutation 'R5761:Vangl2'
ID 445276
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 043363-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5761 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 171828527-171856011 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 171833694 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 463 (H463L)
Ref Sequence ENSEMBL: ENSMUSP00000106895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027837] [ENSMUST00000111263] [ENSMUST00000111264] [ENSMUST00000138714] [ENSMUST00000153662]
AlphaFold Q91ZD4
Predicted Effect probably damaging
Transcript: ENSMUST00000027837
AA Change: H423L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027837
Gene: ENSMUSG00000026556
AA Change: H423L

DomainStartEndE-ValueType
Pfam:Strabismus 22 521 3.1e-267 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111263
AA Change: H423L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106894
Gene: ENSMUSG00000026556
AA Change: H423L

DomainStartEndE-ValueType
Pfam:Strabismus 22 521 3.1e-267 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111264
AA Change: H463L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106895
Gene: ENSMUSG00000026556
AA Change: H463L

DomainStartEndE-ValueType
Pfam:Strabismus 19 272 5e-115 PFAM
Pfam:Strabismus 298 560 1.3e-124 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138714
SMART Domains Protein: ENSMUSP00000117736
Gene: ENSMUSG00000026556

DomainStartEndE-ValueType
Pfam:Strabismus 22 102 2e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148363
Predicted Effect probably benign
Transcript: ENSMUST00000153662
SMART Domains Protein: ENSMUSP00000116522
Gene: ENSMUSG00000026556

DomainStartEndE-ValueType
Pfam:Strabismus 22 130 2.4e-38 PFAM
Meta Mutation Damage Score 0.9555 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 99% (67/68)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,100,927 (GRCm39) V953D probably damaging Het
Abcb8 T C 5: 24,610,879 (GRCm39) probably benign Het
Acad12 A T 5: 121,742,243 (GRCm39) probably benign Het
Adam2 A T 14: 66,283,595 (GRCm39) C436S probably damaging Het
Aebp2 T C 6: 140,569,943 (GRCm39) probably benign Het
Akap8 A T 17: 32,536,159 (GRCm39) C85S possibly damaging Het
Aldh1a3 C A 7: 66,068,927 (GRCm39) R19L probably damaging Het
Baz2a A G 10: 127,955,559 (GRCm39) T848A possibly damaging Het
Bud13 C T 9: 46,199,350 (GRCm39) A237V probably benign Het
Cbarp CGCCTCTGCTGCCTCT CGCCTCT 10: 79,968,067 (GRCm39) probably benign Het
Ccdc187 G A 2: 26,166,104 (GRCm39) P775L possibly damaging Het
Ccz1 C T 5: 143,929,328 (GRCm39) G367R probably damaging Het
Cep104 T C 4: 154,065,681 (GRCm39) V56A possibly damaging Het
Chd6 C A 2: 160,798,998 (GRCm39) R2362S probably damaging Het
Chd6 C T 2: 160,798,999 (GRCm39) R2362K probably damaging Het
Cmc1 T C 9: 117,944,443 (GRCm39) E25G probably benign Het
Cntnap5b T C 1: 100,374,619 (GRCm39) S1123P probably damaging Het
Col4a3 T A 1: 82,693,778 (GRCm39) L66* probably null Het
Crmp1 A G 5: 37,440,212 (GRCm39) T329A probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyp3a16 A G 5: 145,378,843 (GRCm39) S393P possibly damaging Het
Cyp4f18 T A 8: 72,749,975 (GRCm39) I225F probably damaging Het
Ddhd2 A G 8: 26,231,726 (GRCm39) V432A probably benign Het
Ecpas T C 4: 58,853,131 (GRCm39) I401M probably damaging Het
Foxq1 G A 13: 31,743,314 (GRCm39) A139T probably damaging Het
Gm10428 G T 11: 62,644,169 (GRCm39) probably benign Het
Gpr89 A G 3: 96,800,196 (GRCm39) L134P probably damaging Het
Hjv T C 3: 96,435,938 (GRCm39) S399P probably benign Het
Hrc A T 7: 44,986,025 (GRCm39) probably null Het
Igf1r T A 7: 67,857,001 (GRCm39) Y988N probably damaging Het
Igf2r A C 17: 12,917,239 (GRCm39) probably null Het
Itga2b A G 11: 102,357,100 (GRCm39) F260S probably benign Het
Kif2a T A 13: 107,098,672 (GRCm39) N698I probably benign Het
Lap3 A C 5: 45,662,147 (GRCm39) I316L probably benign Het
Map2k6 T G 11: 110,290,197 (GRCm39) probably benign Het
Mtrex T A 13: 113,054,196 (GRCm39) I146F probably damaging Het
Myh1 A G 11: 67,110,078 (GRCm39) E1422G probably damaging Het
Ncoa6 A G 2: 155,250,061 (GRCm39) V1081A probably benign Het
Nom1 A G 5: 29,642,639 (GRCm39) E380G probably damaging Het
Nwd2 A T 5: 63,882,573 (GRCm39) Y75F probably damaging Het
Or3a1b T A 11: 74,012,335 (GRCm39) D73E probably damaging Het
Or51a24 G A 7: 103,733,376 (GRCm39) R304W probably benign Het
Pkd1l1 A G 11: 8,866,301 (GRCm39) V518A probably damaging Het
Ptgs2 A G 1: 149,981,279 (GRCm39) M521V probably benign Het
Qsox1 T A 1: 155,655,274 (GRCm39) M630L probably benign Het
Spty2d1 A G 7: 46,648,032 (GRCm39) L299P probably damaging Het
St6gal1 T G 16: 23,139,805 (GRCm39) probably benign Het
Sult2a6 T C 7: 13,984,283 (GRCm39) Y149C probably damaging Het
Tlr3 G A 8: 45,855,808 (GRCm39) T124M probably benign Het
Tmem171 A G 13: 98,829,019 (GRCm39) Y44H probably damaging Het
Usp35 C T 7: 96,961,558 (GRCm39) V623I probably benign Het
Vmn1r175 A C 7: 23,507,905 (GRCm39) L241V probably benign Het
Vmn1r19 A T 6: 57,382,338 (GRCm39) K297I unknown Het
Vmn2r23 C A 6: 123,689,718 (GRCm39) T198K probably benign Het
Vmn2r-ps69 T A 7: 84,953,223 (GRCm39) noncoding transcript Het
Xirp2 A G 2: 67,341,311 (GRCm39) Y1184C probably benign Het
Ythdc1 A G 5: 86,983,810 (GRCm39) probably benign Het
Zbtb39 C T 10: 127,578,515 (GRCm39) A363V probably damaging Het
Zmiz1 T A 14: 25,651,728 (GRCm39) I527K possibly damaging Het
Zmiz1 C A 14: 25,651,730 (GRCm39) P534T 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
R1173:Vangl2 UTSW 1 171,832,353 (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
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 PCR Primer
(F):5'- GAGCAAGCAGACGTCCTAC -3'
(R):5'- GGCCTTCACGCACATTAAGC -3'

Sequencing Primer
(F):5'- CCTGAACAGCTACAGTGAACTC -3'
(R):5'- GCACATTAAGCGGCTGCAG -3'
Posted On 2016-11-21