Incidental Mutation 'IGL02161:Vax2'
ID 282465
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vax2
Ensembl Gene ENSMUSG00000034777
Gene Name ventral anterior homeobox 2
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.871) question?
Stock # IGL02161
Quality Score
Status
Chromosome 6
Chromosomal Location 83688246-83715295 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83714885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 267 (S267P)
Ref Sequence ENSEMBL: ENSMUSP00000035976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037807]
AlphaFold Q9WTP9
Predicted Effect probably damaging
Transcript: ENSMUST00000037807
AA Change: S267P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035976
Gene: ENSMUSG00000034777
AA Change: S267P

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A T 12: 118,838,490 (GRCm39) V1024D probably benign Het
Alox5 T A 6: 116,400,154 (GRCm39) M262L probably benign Het
Arid5b T C 10: 67,932,498 (GRCm39) T1135A probably benign Het
Ascc3 T A 10: 50,726,623 (GRCm39) Y2177* probably null Het
Birc6 A C 17: 74,855,832 (GRCm39) H214P probably damaging Het
Catsperb T A 12: 101,375,674 (GRCm39) probably benign Het
Ccr1l1 G A 9: 123,778,000 (GRCm39) T149I possibly damaging Het
Cfap57 T G 4: 118,436,569 (GRCm39) R942S possibly damaging Het
Crocc G A 4: 140,761,302 (GRCm39) A941V probably benign Het
Csde1 A G 3: 102,957,654 (GRCm39) Q471R probably damaging Het
Csmd1 C T 8: 16,408,426 (GRCm39) V380I probably damaging Het
Dhx8 A T 11: 101,648,432 (GRCm39) Q857L probably damaging Het
Eftud2 A G 11: 102,745,702 (GRCm39) probably benign Het
Fat3 C A 9: 15,908,346 (GRCm39) R2552I probably benign Het
Fat3 T A 9: 15,908,347 (GRCm39) R2552* probably null Het
Fbln7 A T 2: 128,731,711 (GRCm39) K166I probably benign Het
Glrx2 C T 1: 143,615,421 (GRCm39) S8L possibly damaging Het
Grin2d T G 7: 45,503,846 (GRCm39) I630L possibly damaging Het
Gsap T A 5: 21,458,377 (GRCm39) W423R probably damaging Het
Kifc2 A G 15: 76,550,245 (GRCm39) E468G probably damaging Het
Kpnb1 A G 11: 97,059,762 (GRCm39) S566P probably benign Het
Lemd2 A G 17: 27,409,625 (GRCm39) S509P probably damaging Het
Lepr T C 4: 101,602,875 (GRCm39) F221S probably damaging Het
Nynrin T C 14: 56,101,441 (GRCm39) F370S probably damaging Het
Or51a10 C A 7: 103,698,797 (GRCm39) V255L possibly damaging Het
Pcdhb15 T A 18: 37,608,555 (GRCm39) S596T possibly damaging Het
Prkcq G T 2: 11,281,887 (GRCm39) S472I probably benign Het
Rabgef1 T C 5: 130,235,940 (GRCm39) probably benign Het
Rnd3 C T 2: 51,024,088 (GRCm39) V164M probably benign Het
Rtn4rl1 G A 11: 75,156,666 (GRCm39) R366Q probably damaging Het
Sesn2 A T 4: 132,224,229 (GRCm39) I393N probably damaging Het
St8sia2 T C 7: 73,626,430 (GRCm39) N46S probably benign Het
Svopl A G 6: 38,013,750 (GRCm39) probably benign Het
Tbr1 C T 2: 61,635,583 (GRCm39) Q178* probably null Het
Vmn1r47 T A 6: 89,999,298 (GRCm39) Y143* probably null Het
Vmn2r28 A G 7: 5,491,123 (GRCm39) S375P possibly damaging Het
Vmn2r44 A T 7: 8,380,814 (GRCm39) Y360N possibly damaging Het
Zc3h6 G A 2: 128,835,146 (GRCm39) S94N possibly damaging Het
Other mutations in Vax2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01568:Vax2 APN 6 83,688,519 (GRCm39) missense possibly damaging 0.70
IGL02584:Vax2 APN 6 83,688,495 (GRCm39) missense probably benign
R0316:Vax2 UTSW 6 83,688,426 (GRCm39) missense possibly damaging 0.79
R0456:Vax2 UTSW 6 83,688,388 (GRCm39) missense probably benign 0.00
R1006:Vax2 UTSW 6 83,714,759 (GRCm39) missense probably damaging 1.00
R2045:Vax2 UTSW 6 83,688,252 (GRCm39) start gained probably benign
R2217:Vax2 UTSW 6 83,714,871 (GRCm39) missense probably damaging 0.98
R2324:Vax2 UTSW 6 83,688,307 (GRCm39) missense possibly damaging 0.53
R3979:Vax2 UTSW 6 83,714,529 (GRCm39) missense probably damaging 0.98
R4755:Vax2 UTSW 6 83,688,379 (GRCm39) missense probably damaging 0.99
R7203:Vax2 UTSW 6 83,714,882 (GRCm39) missense probably damaging 0.99
R7242:Vax2 UTSW 6 83,688,298 (GRCm39) missense possibly damaging 0.72
Posted On 2015-04-16