Incidental Mutation 'R2217:Vax2'
ID 241205
Institutional Source Beutler Lab
Gene Symbol Vax2
Ensembl Gene ENSMUSG00000034777
Gene Name ventral anterior homeobox 2
Synonyms
MMRRC Submission 040219-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.871) question?
Stock # R2217 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 83688246-83715295 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 83714871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 262 (Y262F)
Ref Sequence ENSEMBL: ENSMUSP00000035976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037807]
AlphaFold Q9WTP9
Predicted Effect probably damaging
Transcript: ENSMUST00000037807
AA Change: Y262F

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000035976
Gene: ENSMUSG00000034777
AA Change: Y262F

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
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 T C 8: 112,709,128 (GRCm39) K232E probably benign Het
Apba1 T C 19: 23,871,326 (GRCm39) M386T probably damaging Het
Appl2 G T 10: 83,444,601 (GRCm39) F472L possibly damaging Het
Atxn2 T C 5: 121,941,140 (GRCm39) Y56H probably damaging Het
Cacna1c T C 6: 118,647,368 (GRCm39) Y809C probably damaging Het
Canx C T 11: 50,201,694 (GRCm39) V59I probably benign Het
Catsperb T C 12: 101,560,478 (GRCm39) L823P probably damaging Het
Crb3 T C 17: 57,372,090 (GRCm39) S46P probably benign Het
Daam1 G A 12: 72,036,601 (GRCm39) R1058H probably damaging Het
Ehd1 T A 19: 6,348,502 (GRCm39) D493E probably damaging Het
Eml6 T A 11: 29,768,907 (GRCm39) Q746L probably damaging Het
Epg5 T A 18: 77,992,287 (GRCm39) M328K probably benign Het
Flt4 T A 11: 49,515,555 (GRCm39) S48T probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm7535 A G 17: 18,131,936 (GRCm39) probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Hmcn2 A T 2: 31,240,586 (GRCm39) T494S probably benign Het
Hydin G A 8: 111,145,138 (GRCm39) V830I probably benign Het
Map3k6 T A 4: 132,973,983 (GRCm39) H487Q possibly damaging Het
Myh14 G A 7: 44,283,800 (GRCm39) P735S probably damaging Het
Nfkb2 T C 19: 46,296,163 (GRCm39) probably null Het
Nlrp4c T C 7: 6,076,113 (GRCm39) V671A probably benign Het
Nsrp1 A T 11: 76,936,587 (GRCm39) Y536* probably null Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Pak5 A G 2: 135,958,123 (GRCm39) S322P probably damaging Het
Pank2 A G 2: 131,124,601 (GRCm39) probably null Het
Phf6 A T X: 52,031,525 (GRCm39) I272F probably damaging Het
Plxna2 T C 1: 194,480,056 (GRCm39) L1409P probably damaging Het
Polr2a A G 11: 69,633,511 (GRCm39) probably null Het
Pp2d1 C A 17: 53,822,482 (GRCm39) V195L probably benign Het
Psma1 C T 7: 113,864,173 (GRCm39) E227K unknown Het
Ptger1 C T 8: 84,395,357 (GRCm39) T278I probably benign Het
Slc20a2 C A 8: 23,050,532 (GRCm39) S250R probably benign Het
Slc27a2 A G 2: 126,409,672 (GRCm39) T285A probably damaging Het
Slc47a2 T C 11: 61,204,497 (GRCm39) T285A probably benign Het
Slf1 T A 13: 77,194,825 (GRCm39) probably null Het
Tiam2 A G 17: 3,465,389 (GRCm39) T373A probably benign Het
Timd2 T A 11: 46,577,844 (GRCm39) I96L probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmem64 T C 4: 15,266,658 (GRCm39) I236T possibly damaging Het
Trpm2 T A 10: 77,777,016 (GRCm39) D427V probably damaging Het
Virma T C 4: 11,544,924 (GRCm39) S1628P probably damaging Het
Zan C A 5: 137,408,568 (GRCm39) probably benign Het
Zbtb22 T G 17: 34,136,939 (GRCm39) D361E probably damaging Het
Zfp27 A G 7: 29,595,536 (GRCm39) L143P possibly damaging Het
Other mutations in Vax2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01568:Vax2 APN 6 83,688,519 (GRCm39) missense possibly damaging 0.70
IGL02161:Vax2 APN 6 83,714,885 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CAAGGTGAAGGTCTGGTTCC -3'
(R):5'- CTGCTCAGTATAGTCCACGG -3'

Sequencing Primer
(F):5'- TCCTGCGGCTTCTGGAAC -3'
(R):5'- TATAGTCCACGGGGGCCAG -3'
Posted On 2014-10-15