Incidental Mutation 'R2005:Vangl1'
ID 225339
Institutional Source Beutler Lab
Gene Symbol Vangl1
Ensembl Gene ENSMUSG00000027860
Gene Name VANGL planar cell polarity 1
Synonyms stbm, KITENIN, Lpp2, mStbm
MMRRC Submission 040014-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.304) question?
Stock # R2005 (G1)
Quality Score 195
Status Not validated
Chromosome 3
Chromosomal Location 102060899-102112009 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102070782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 385 (S385P)
Ref Sequence ENSEMBL: ENSMUSP00000029453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029453] [ENSMUST00000159388] [ENSMUST00000168312]
AlphaFold Q80Z96
Predicted Effect probably benign
Transcript: ENSMUST00000029453
AA Change: S385P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029453
Gene: ENSMUSG00000027860
AA Change: S385P

low complexity region 5 21 N/A INTRINSIC
Pfam:Strabismus 23 360 3.4e-171 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159388
SMART Domains Protein: ENSMUSP00000125043
Gene: ENSMUSG00000027860

low complexity region 5 21 N/A INTRINSIC
Pfam:Strabismus 25 526 8.6e-262 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160226
Predicted Effect unknown
Transcript: ENSMUST00000161021
AA Change: S111P
SMART Domains Protein: ENSMUSP00000125484
Gene: ENSMUSG00000027860
AA Change: S111P

Pfam:Strabismus 1 253 3.2e-118 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162361
Predicted Effect probably benign
Transcript: ENSMUST00000168312
SMART Domains Protein: ENSMUSP00000126254
Gene: ENSMUSG00000027860

low complexity region 5 21 N/A INTRINSIC
Pfam:Strabismus 23 357 1.2e-170 PFAM
Pfam:Strabismus 354 476 9.5e-67 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a gene trapped allele display abnormal orientation of cochlear hair cell stereociliary bundles but do not develop neural tube or cardiac outflow tract abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G A 12: 118,841,562 (GRCm39) A961V probably benign Het
Adcy10 A G 1: 165,352,591 (GRCm39) Y475C probably benign Het
Adgrb3 T C 1: 25,150,799 (GRCm39) M1145V probably benign Het
Akr1c21 A G 13: 4,624,214 (GRCm39) T23A probably damaging Het
Ankrd33b A T 15: 31,297,814 (GRCm39) S314R probably damaging Het
Apc T C 18: 34,443,962 (GRCm39) probably null Het
Atg9a T A 1: 75,162,635 (GRCm39) Q460L probably benign Het
Birc2 C T 9: 7,860,342 (GRCm39) C292Y probably damaging Het
Capn5 T C 7: 97,778,570 (GRCm39) I350V probably benign Het
Cc2d2a G A 5: 43,883,715 (GRCm39) probably null Het
Cdh22 T A 2: 165,022,843 (GRCm39) E76V probably damaging Het
Cdh8 T C 8: 99,760,103 (GRCm39) probably null Het
Cdkn1b ATTCTTCTTC ATTCTTCTTCTTC 6: 134,898,919 (GRCm39) probably benign Het
Cfap54 T A 10: 92,720,630 (GRCm39) D2608V unknown Het
Crebrf T C 17: 26,961,857 (GRCm39) V318A possibly damaging Het
Cwf19l2 A T 9: 3,430,720 (GRCm39) N351Y possibly damaging Het
Cyp2c67 A T 19: 39,631,789 (GRCm39) M136K probably damaging Het
Ddx10 A G 9: 53,151,775 (GRCm39) probably null Het
Ddx47 A G 6: 134,995,084 (GRCm39) N92S probably benign Het
Ddx50 T A 10: 62,476,243 (GRCm39) H306L probably benign Het
Dnajc27 A G 12: 4,147,317 (GRCm39) T167A possibly damaging Het
Dscam T G 16: 96,840,120 (GRCm39) K162N probably benign Het
Eif4h G A 5: 134,656,531 (GRCm39) T53I probably benign Het
Elmo2 T C 2: 165,140,199 (GRCm39) N332S probably benign Het
Ergic3 A G 2: 155,853,028 (GRCm39) N157S possibly damaging Het
F2rl1 G T 13: 95,649,782 (GRCm39) R367S probably damaging Het
Fbxo36 G A 1: 84,877,790 (GRCm39) A151T probably benign Het
Foxf2 G T 13: 31,810,124 (GRCm39) R21L unknown Het
Gmip T A 8: 70,266,693 (GRCm39) H269Q probably benign Het
Gng4 T A 13: 13,980,751 (GRCm39) V32E probably benign Het
Grm3 T C 5: 9,639,793 (GRCm39) Y84C possibly damaging Het
Helz2 C T 2: 180,873,122 (GRCm39) R2396H probably benign Het
Icosl A T 10: 77,907,787 (GRCm39) M116L possibly damaging Het
Itgb3bp A C 4: 99,702,295 (GRCm39) N16K probably benign Het
Kcnt2 A G 1: 140,480,756 (GRCm39) M824V probably damaging Het
Mki67 T A 7: 135,300,238 (GRCm39) K1599* probably null Het
Mmp25 G A 17: 23,859,216 (GRCm39) R144W probably damaging Het
Mmrn1 A T 6: 60,953,068 (GRCm39) I450F possibly damaging Het
Mroh2b A T 15: 4,946,640 (GRCm39) K480M probably damaging Het
Nbn T A 4: 15,979,351 (GRCm39) D445E probably benign Het
Npbwr1 T A 1: 5,986,570 (GRCm39) S315C probably damaging Het
Or10ag56 T A 2: 87,139,792 (GRCm39) S240T probably benign Het
Or1e19 A T 11: 73,316,065 (GRCm39) V248E probably damaging Het
Or5d38 A G 2: 87,954,891 (GRCm39) L146P probably damaging Het
Or7g16 G A 9: 18,726,801 (GRCm39) S263L probably benign Het
Pard3b A T 1: 62,184,050 (GRCm39) E183D probably benign Het
Pde10a G A 17: 9,147,923 (GRCm39) probably null Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Prdm13 T C 4: 21,685,695 (GRCm39) probably benign Het
Rc3h2 T A 2: 37,279,765 (GRCm39) K461* probably null Het
Reep2 C T 18: 34,978,674 (GRCm39) T117M probably damaging Het
Rhbdd1 A G 1: 82,318,531 (GRCm39) N138S probably benign Het
Rnf19a A T 15: 36,241,916 (GRCm39) F708I possibly damaging Het
Robo2 G A 16: 73,730,003 (GRCm39) H1069Y possibly damaging Het
Rpl9 C T 5: 65,546,878 (GRCm39) V112I probably benign Het
Sec16a A C 2: 26,329,092 (GRCm39) S974R probably benign Het
Sfrp5 A G 19: 42,187,275 (GRCm39) M265T probably benign Het
Skint7 T C 4: 111,842,047 (GRCm39) I305T probably benign Het
Slc6a7 T C 18: 61,134,713 (GRCm39) D454G possibly damaging Het
Slco6c1 A G 1: 97,009,214 (GRCm39) I407T probably damaging Het
Slfn8 A T 11: 82,894,976 (GRCm39) M610K probably damaging Het
Spidr A G 16: 15,865,913 (GRCm39) S299P probably damaging Het
Sptbn4 C T 7: 27,065,844 (GRCm39) W2034* probably null Het
Stard9 T A 2: 120,495,426 (GRCm39) F100L possibly damaging Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Stc1 T C 14: 69,269,096 (GRCm39) probably null Het
Sun2 T C 15: 79,610,825 (GRCm39) E667G possibly damaging Het
Tacc2 T C 7: 130,333,280 (GRCm39) S511P probably damaging Het
Tasp1 T G 2: 139,819,598 (GRCm39) K202Q probably damaging Het
Tdrd6 A G 17: 43,939,546 (GRCm39) F501L probably damaging Het
Tgds A G 14: 118,368,068 (GRCm39) V35A possibly damaging Het
Tubgcp6 G A 15: 88,988,369 (GRCm39) T860I probably benign Het
Twf1 C T 15: 94,483,328 (GRCm39) probably null Het
Vmn2r117 A G 17: 23,696,618 (GRCm39) I263T probably damaging Het
Washc5 A G 15: 59,213,004 (GRCm39) L892P possibly damaging Het
Wnk4 T C 11: 101,154,716 (GRCm39) C302R probably damaging Het
Zfp395 A G 14: 65,626,334 (GRCm39) E191G possibly damaging Het
Zkscan17 A G 11: 59,383,042 (GRCm39) L302P probably damaging Het
Other mutations in Vangl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00640:Vangl1 APN 3 102,065,545 (GRCm39) utr 3 prime probably benign
IGL00870:Vangl1 APN 3 102,096,756 (GRCm39) missense probably damaging 1.00
IGL01533:Vangl1 APN 3 102,070,667 (GRCm39) missense possibly damaging 0.88
IGL01981:Vangl1 APN 3 102,091,607 (GRCm39) missense probably damaging 1.00
IGL02792:Vangl1 APN 3 102,070,739 (GRCm39) missense probably damaging 0.98
IGL02800:Vangl1 APN 3 102,070,611 (GRCm39) splice site probably benign
IGL02942:Vangl1 APN 3 102,091,347 (GRCm39) missense probably damaging 1.00
IGL03029:Vangl1 APN 3 102,091,400 (GRCm39) missense probably damaging 1.00
R0600:Vangl1 UTSW 3 102,074,253 (GRCm39) missense probably damaging 1.00
R0904:Vangl1 UTSW 3 102,091,310 (GRCm39) missense probably damaging 0.99
R1230:Vangl1 UTSW 3 102,065,609 (GRCm39) missense probably benign 0.00
R1829:Vangl1 UTSW 3 102,070,782 (GRCm39) missense probably benign
R2268:Vangl1 UTSW 3 102,104,160 (GRCm39) missense probably damaging 1.00
R4181:Vangl1 UTSW 3 102,073,097 (GRCm39) intron probably benign
R4662:Vangl1 UTSW 3 102,074,238 (GRCm39) missense probably benign 0.00
R4724:Vangl1 UTSW 3 102,091,870 (GRCm39) missense probably damaging 1.00
R4755:Vangl1 UTSW 3 102,065,608 (GRCm39) missense probably benign 0.19
R5548:Vangl1 UTSW 3 102,091,762 (GRCm39) missense possibly damaging 0.76
R5740:Vangl1 UTSW 3 102,091,450 (GRCm39) missense probably damaging 0.99
R5758:Vangl1 UTSW 3 102,091,408 (GRCm39) missense probably damaging 1.00
R6150:Vangl1 UTSW 3 102,091,835 (GRCm39) missense probably damaging 1.00
R6373:Vangl1 UTSW 3 102,065,764 (GRCm39) missense probably benign
R6943:Vangl1 UTSW 3 102,073,097 (GRCm39) intron probably benign
R7474:Vangl1 UTSW 3 102,091,565 (GRCm39) missense probably benign 0.22
R7616:Vangl1 UTSW 3 102,091,381 (GRCm39) missense probably damaging 1.00
R8120:Vangl1 UTSW 3 102,070,758 (GRCm39) nonsense probably null
R8827:Vangl1 UTSW 3 102,070,736 (GRCm39) missense probably damaging 0.99
R8859:Vangl1 UTSW 3 102,065,758 (GRCm39) missense
R9494:Vangl1 UTSW 3 102,070,665 (GRCm39) missense probably damaging 0.98
R9745:Vangl1 UTSW 3 102,072,669 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-08-25