Incidental Mutation 'R1256:Vsx2'
ID 151467
Institutional Source Beutler Lab
Gene Symbol Vsx2
Ensembl Gene ENSMUSG00000021239
Gene Name visual system homeobox 2
Synonyms Chx10, Hox10, Hox-10
MMRRC Submission 039323-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.887) question?
Stock # R1256 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 84616602-84642231 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84623085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 163 (L163Q)
Ref Sequence ENSEMBL: ENSMUSP00000131009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021665] [ENSMUST00000169934]
AlphaFold Q61412
Predicted Effect probably damaging
Transcript: ENSMUST00000021665
AA Change: L163Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021665
Gene: ENSMUSG00000021239
AA Change: L163Q

DomainStartEndE-ValueType
low complexity region 77 86 N/A INTRINSIC
low complexity region 122 132 N/A INTRINSIC
HOX 148 210 4e-26 SMART
low complexity region 284 295 N/A INTRINSIC
Pfam:OAR 299 319 4.3e-10 PFAM
low complexity region 334 350 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169934
AA Change: L163Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131009
Gene: ENSMUSG00000021239
AA Change: L163Q

DomainStartEndE-ValueType
low complexity region 77 86 N/A INTRINSIC
low complexity region 122 132 N/A INTRINSIC
HOX 148 210 4e-26 SMART
low complexity region 303 314 N/A INTRINSIC
Pfam:OAR 319 337 6.6e-10 PFAM
low complexity region 353 369 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the Vsx (visual system homeobox) family which belongs to the larger PRD homeobox class. The encoded protein is required for eye organogenesis and controls retinal development. Disruption of this gene is associated with ocular retardation J (orJ), a mouse disease which causes microphthalmia, retinal degeneration and optic nerve aplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
PHENOTYPE: Homozygotes for spontaneous mutations exhibit microphthalmia, lack of retinal intercellular channels, and agenesis of the optic nerve. Homozygotes for one mutant allele also have a germ cell maturation defect with sterility in both sexes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Apaf1 A G 10: 90,894,268 (GRCm39) Y456H probably benign Het
Arhgef11 A G 3: 87,634,442 (GRCm39) N791S possibly damaging Het
Brat1 A G 5: 140,695,962 (GRCm39) Q66R possibly damaging Het
Capn10 C T 1: 92,874,668 (GRCm39) T633M probably damaging Het
Ccdc186 G T 19: 56,786,053 (GRCm39) L661I probably benign Het
Cln3 A G 7: 126,182,208 (GRCm39) S4P probably damaging Het
Cnot10 G T 9: 114,439,749 (GRCm39) S520Y probably damaging Het
Csmd1 A T 8: 16,129,978 (GRCm39) F1715I probably damaging Het
Ezh2 A T 6: 47,518,789 (GRCm39) C545* probably null Het
Hivep1 C T 13: 42,335,307 (GRCm39) S2282F probably damaging Het
Jag2 T C 12: 112,878,039 (GRCm39) E564G possibly damaging Het
Kcnj16 A G 11: 110,916,262 (GRCm39) H308R probably damaging Het
Magi3 C T 3: 103,935,126 (GRCm39) V936I probably benign Het
Mcu G T 10: 59,290,790 (GRCm39) A279E probably damaging Het
Msln A G 17: 25,973,157 (GRCm39) C13R probably damaging Het
Nes A G 3: 87,883,883 (GRCm39) D714G probably benign Het
Nif3l1 T A 1: 58,494,808 (GRCm39) V259D probably damaging Het
Or4c127 A T 2: 89,832,911 (GRCm39) M54L possibly damaging Het
Or5k14 A C 16: 58,693,206 (GRCm39) Y102* probably null Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Pcdhb9 A G 18: 37,536,169 (GRCm39) D721G possibly damaging Het
Pepd A C 7: 34,620,917 (GRCm39) T61P possibly damaging Het
Pkd1l2 C T 8: 117,746,282 (GRCm39) probably null Het
Poglut3 A C 9: 53,299,762 (GRCm39) R90S possibly damaging Het
Psip1 A G 4: 83,392,604 (GRCm39) S102P probably benign Het
Ralgapa1 T C 12: 55,809,446 (GRCm39) E443G possibly damaging Het
Rnf20 A G 4: 49,638,230 (GRCm39) D114G probably benign Het
Schip1 A T 3: 68,402,375 (GRCm39) I151F probably benign Het
Smarca2 A G 19: 26,659,373 (GRCm39) I888V probably benign Het
Smg1 T C 7: 117,802,310 (GRCm39) T263A probably damaging Het
Spn T C 7: 126,735,445 (GRCm39) K354R possibly damaging Het
Sspo G A 6: 48,434,573 (GRCm39) A1022T probably damaging Het
Strn A C 17: 78,972,046 (GRCm39) probably null Het
Tstd3 T C 4: 21,759,627 (GRCm39) I79M probably damaging Het
Txnl4a A G 18: 80,250,487 (GRCm39) I28V probably benign Het
Uty T C Y: 1,134,884 (GRCm39) D928G probably damaging Het
Vps26c A G 16: 94,313,225 (GRCm39) L22P probably damaging Het
Other mutations in Vsx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03368:Vsx2 APN 12 84,617,074 (GRCm39) missense probably benign 0.09
R0005:Vsx2 UTSW 12 84,617,015 (GRCm39) missense possibly damaging 0.78
R0413:Vsx2 UTSW 12 84,616,777 (GRCm39) missense probably benign 0.00
R3438:Vsx2 UTSW 12 84,616,985 (GRCm39) missense probably damaging 0.98
R5199:Vsx2 UTSW 12 84,639,984 (GRCm39) missense probably benign 0.31
R6481:Vsx2 UTSW 12 84,639,878 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACTTTCCCACCAGAGTGCTTCCAG -3'
(R):5'- AGCAGGACTTATCCGCCTAGCTTC -3'

Sequencing Primer
(F):5'- gagagagagagagagagagagag -3'
(R):5'- tgtttgtttgtttgtttgtttgtttg -3'
Posted On 2014-01-29