Incidental Mutation 'R4755:Vax2'
ID 357906
Institutional Source Beutler Lab
Gene Symbol Vax2
Ensembl Gene ENSMUSG00000034777
Gene Name ventral anterior homeobox 2
MMRRC Submission 042033-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.806) question?
Stock # R4755 (G1)
Quality Score 199
Status Validated
Chromosome 6
Chromosomal Location 83711264-83738313 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 83711397 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Tryptophan at position 34 (L34W)
Ref Sequence ENSEMBL: ENSMUSP00000035976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037807]
AlphaFold Q9WTP9
Predicted Effect probably damaging
Transcript: ENSMUST00000037807
AA Change: L34W

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000035976
Gene: ENSMUSG00000034777
AA Change: L34W

low complexity region 7 32 N/A INTRINSIC
HOX 102 164 3.54e-27 SMART
low complexity region 169 180 N/A INTRINSIC
low complexity region 197 213 N/A INTRINSIC
low complexity region 233 247 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155159
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184408
Meta Mutation Damage Score 0.0858 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 96% (112/117)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and other aspects of retinal development. [provided by RefSeq, Sep 2008]
PHENOTYPE: Homozygous null mutants for one allele show incomplete closure of optic fissure leading to coloboma, the frequency of which is strongly influenced by genetic background. Homozygous null mutants for 2 different alleles have abnormal projections of ventralretinal ganglion cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449A18Rik T A 3: 59,825,859 (GRCm38) noncoding transcript Het
Aadacl2fm1 C T 3: 59,936,314 (GRCm38) A143V probably benign Het
Accs T C 2: 93,841,337 (GRCm38) E236G probably damaging Het
Agrn C T 4: 156,173,522 (GRCm38) probably benign Het
Ahi1 A G 10: 21,055,047 (GRCm38) I929V possibly damaging Het
Akap5 C A 12: 76,327,807 (GRCm38) C4* probably null Het
Amotl2 A T 9: 102,720,480 (GRCm38) H146L probably damaging Het
Ank1 A G 8: 23,104,974 (GRCm38) N666S probably damaging Het
Atp10d A T 5: 72,246,166 (GRCm38) T373S probably benign Het
Bpifb9b T A 2: 154,319,694 (GRCm38) M582K probably benign Het
Brca2 T A 5: 150,559,987 (GRCm38) probably null Het
Ccdc149 A G 5: 52,404,151 (GRCm38) V229A probably damaging Het
Cdk5rap2 A G 4: 70,238,425 (GRCm38) S1617P probably damaging Het
Cenpk A T 13: 104,249,512 (GRCm38) H305L probably benign Het
Cenpk A T 13: 104,230,871 (GRCm38) M37L probably benign Het
Ces5a C A 8: 93,535,677 (GRCm38) A11S probably benign Het
Cfap65 T C 1: 74,928,361 (GRCm38) E186G probably damaging Het
Cfh T A 1: 140,088,808 (GRCm38) I593F probably damaging Het
Clstn2 C T 9: 97,445,673 (GRCm38) V961I probably benign Het
Cog5 T A 12: 31,869,406 (GRCm38) probably null Het
Col4a4 T C 1: 82,541,174 (GRCm38) D100G unknown Het
Cyp3a41a T C 5: 145,715,506 (GRCm38) D61G probably damaging Het
Dnah10 A G 5: 124,747,745 (GRCm38) N655S probably benign Het
Dnai1 C G 4: 41,610,269 (GRCm38) T295R probably damaging Het
Dnajc6 C T 4: 101,550,799 (GRCm38) A44V probably damaging Het
Eif4enif1 A T 11: 3,244,016 (GRCm38) D960V probably damaging Het
Fam167b C T 4: 129,578,342 (GRCm38) G12R probably damaging Het
Fam20b A T 1: 156,687,496 (GRCm38) Y266* probably null Het
Fer1l6 T A 15: 58,640,211 (GRCm38) V1509D probably benign Het
Fhad1 A T 4: 141,928,483 (GRCm38) I105N probably damaging Het
Fmo2 T C 1: 162,888,805 (GRCm38) D71G probably damaging Het
Folr2 T C 7: 101,843,799 (GRCm38) T6A possibly damaging Het
Fry A C 5: 150,398,254 (GRCm38) E1018A probably damaging Het
Gas2l2 A G 11: 83,429,367 (GRCm38) I21T probably damaging Het
Gfra1 T C 19: 58,453,244 (GRCm38) Y85C probably damaging Het
Gpld1 T A 13: 24,979,692 (GRCm38) Y44* probably null Het
Gpld1 A T 13: 24,979,688 (GRCm38) Y43F probably benign Het
Grid2 A G 6: 63,908,988 (GRCm38) T123A probably benign Het
Grina T C 15: 76,249,242 (GRCm38) L305P probably damaging Het
Gucy1a1 G A 3: 82,094,795 (GRCm38) A659V probably benign Het
H2-T10 T A 17: 36,118,945 (GRCm38) K319* probably null Het
Hey2 A T 10: 30,834,304 (GRCm38) V151E probably benign Het
Ighv1-69 G A 12: 115,623,558 (GRCm38) T13I probably benign Het
Il1rap C A 16: 26,722,782 (GRCm38) A591E probably benign Het
Ildr1 T C 16: 36,722,021 (GRCm38) L261P probably benign Het
Jak1 A G 4: 101,174,157 (GRCm38) Y463H probably damaging Het
Lrp1b T C 2: 41,269,273 (GRCm38) I1666V probably benign Het
Lrp1b T A 2: 41,471,016 (GRCm38) T592S probably benign Het
Lrrc36 A G 8: 105,452,144 (GRCm38) T445A possibly damaging Het
Ly9 G A 1: 171,607,238 (GRCm38) S29F probably damaging Het
Mapk7 A C 11: 61,490,843 (GRCm38) C32W probably damaging Het
Marchf10 C T 11: 105,364,476 (GRCm38) probably benign Het
Mier2 A T 10: 79,549,197 (GRCm38) M119K probably damaging Het
Mpv17 A T 5: 31,145,982 (GRCm38) C59* probably null Het
Mrpl27 G A 11: 94,653,833 (GRCm38) probably benign Het
Myo18b G A 5: 112,874,474 (GRCm38) Q351* probably null Het
Myo1a A G 10: 127,715,688 (GRCm38) I704M probably damaging Het
Nadsyn1 A G 7: 143,806,913 (GRCm38) C373R probably damaging Het
Nckipsd C A 9: 108,814,739 (GRCm38) A513E probably benign Het
Neb T C 2: 52,220,209 (GRCm38) D209G probably damaging Het
Nkapl T A 13: 21,468,287 (GRCm38) Q52L unknown Het
Nptx2 G A 5: 144,546,440 (GRCm38) S126N probably benign Het
Or2a7 G A 6: 43,174,043 (GRCm38) S19N probably benign Het
Or52d3 T A 7: 104,580,061 (GRCm38) Y138* probably null Het
Or7g17 A T 9: 18,857,180 (GRCm38) H185L probably benign Het
Or8b52 A G 9: 38,665,832 (GRCm38) V4A probably benign Het
Pclo A T 5: 14,714,348 (GRCm38) R4278S unknown Het
Pcnx1 T G 12: 81,950,294 (GRCm38) L988R probably damaging Het
Prl2c5 C A 13: 13,189,385 (GRCm38) N75K probably benign Het
Prpf19 T G 19: 10,897,790 (GRCm38) probably benign Het
Ralgapa1 A G 12: 55,712,748 (GRCm38) S997P probably damaging Het
Rangap1 T C 15: 81,712,917 (GRCm38) T226A probably benign Het
Rimklb G A 6: 122,456,406 (GRCm38) L262F probably damaging Het
Rnf169 A G 7: 99,925,723 (GRCm38) M555T probably benign Het
Rp1l1 A T 14: 64,030,070 (GRCm38) D1035V probably benign Het
Rps23rg1 A T 8: 3,583,922 (GRCm38) S8C probably damaging Het
Scd2 T A 19: 44,301,352 (GRCm38) L262Q probably damaging Het
Scgb2b12 T A 7: 32,325,531 (GRCm38) M84L probably benign Het
Shroom3 G T 5: 92,943,086 (GRCm38) V1151F probably damaging Het
Sipa1l1 G A 12: 82,372,386 (GRCm38) V613I possibly damaging Het
Slc25a23 T A 17: 57,052,794 (GRCm38) D67V possibly damaging Het
Slc25a39 C T 11: 102,406,666 (GRCm38) probably benign Het
Slc4a10 T A 2: 62,296,988 (GRCm38) F895Y probably damaging Het
Slc5a4a A C 10: 76,186,564 (GRCm38) K578Q probably benign Het
Slc6a13 G A 6: 121,325,049 (GRCm38) G197S probably damaging Het
Smarca2 A T 19: 26,654,483 (GRCm38) E566V possibly damaging Het
Sorbs3 A T 14: 70,184,099 (GRCm38) N594K probably benign Het
Spata22 A T 11: 73,345,756 (GRCm38) D296V probably damaging Het
Sphk2 G A 7: 45,713,634 (GRCm38) A11V possibly damaging Het
Spp1 A T 5: 104,435,215 (GRCm38) probably benign Het
Strn3 T A 12: 51,610,216 (GRCm38) I760L possibly damaging Het
Syk A T 13: 52,641,986 (GRCm38) Y539F probably benign Het
Tdpoz9-ps1 T C 3: 93,938,786 (GRCm38) probably null Het
Thsd7b T A 1: 130,210,264 (GRCm38) Y1560N probably benign Het
Tmod2 C A 9: 75,597,212 (GRCm38) E42* probably null Het
Tom1l1 T C 11: 90,685,116 (GRCm38) E30G probably damaging Het
Trav10 G A 14: 53,506,061 (GRCm38) A40T probably benign Het
Trav14-2 G A 14: 53,640,780 (GRCm38) probably benign Het
Tril T A 6: 53,818,464 (GRCm38) E591V probably damaging Het
Trp53bp1 T A 2: 121,228,606 (GRCm38) R179* probably null Het
Tspoap1 A T 11: 87,771,663 (GRCm38) D562V possibly damaging Het
Usp44 A T 10: 93,846,906 (GRCm38) H406L probably damaging Het
Vangl1 A G 3: 102,158,292 (GRCm38) I509T probably benign Het
Vmn1r55 A T 7: 5,147,026 (GRCm38) C133S probably damaging Het
Vmn2r8 T A 5: 108,801,700 (GRCm38) D427V probably benign Het
Vwde A G 6: 13,205,852 (GRCm38) I232T possibly damaging Het
Wnk1 C A 6: 119,963,470 (GRCm38) A769S probably damaging Het
Xpo4 A C 14: 57,618,181 (GRCm38) S264A probably benign Het
Zfp330 A T 8: 82,769,386 (GRCm38) C75* probably null Het
Zfp526 T A 7: 25,225,639 (GRCm38) L441Q probably benign Het
Zfp607b T G 7: 27,703,505 (GRCm38) L462R probably damaging Het
Zfp719 T A 7: 43,590,793 (GRCm38) F602I probably damaging Het
Other mutations in Vax2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01568:Vax2 APN 6 83,711,537 (GRCm38) missense possibly damaging 0.70
IGL02161:Vax2 APN 6 83,737,903 (GRCm38) missense probably damaging 1.00
IGL02584:Vax2 APN 6 83,711,513 (GRCm38) missense probably benign
R0316:Vax2 UTSW 6 83,711,444 (GRCm38) missense possibly damaging 0.79
R0456:Vax2 UTSW 6 83,711,406 (GRCm38) missense probably benign 0.00
R1006:Vax2 UTSW 6 83,737,777 (GRCm38) missense probably damaging 1.00
R2045:Vax2 UTSW 6 83,711,270 (GRCm38) start gained probably benign
R2217:Vax2 UTSW 6 83,737,889 (GRCm38) missense probably damaging 0.98
R2324:Vax2 UTSW 6 83,711,325 (GRCm38) missense possibly damaging 0.53
R3979:Vax2 UTSW 6 83,737,547 (GRCm38) missense probably damaging 0.98
R7203:Vax2 UTSW 6 83,737,900 (GRCm38) missense probably damaging 0.99
R7242:Vax2 UTSW 6 83,711,316 (GRCm38) missense possibly damaging 0.72
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-11-11