Incidental Mutation 'R5199:Vsx2'
ID 400619
Institutional Source Beutler Lab
Gene Symbol Vsx2
Ensembl Gene ENSMUSG00000021239
Gene Name visual system homeobox 2
Synonyms Chx10, Hox10, Hox-10
MMRRC Submission 042775-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.889) question?
Stock # R5199 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 84616602-84642231 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84639984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 281 (D281G)
Ref Sequence ENSEMBL: ENSMUSP00000021665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021665] [ENSMUST00000169934]
AlphaFold Q61412
Predicted Effect probably benign
Transcript: ENSMUST00000021665
AA Change: D281G

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000021665
Gene: ENSMUSG00000021239
AA Change: D281G

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 benign
Transcript: ENSMUST00000169934
AA Change: D300G

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000131009
Gene: ENSMUSG00000021239
AA Change: D300G

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
Meta Mutation Damage Score 0.0721 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (57/57)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 T C 3: 59,843,906 (GRCm39) L200P probably damaging Het
Adam1a T C 5: 121,659,215 (GRCm39) E26G probably benign Het
Adar T A 3: 89,653,251 (GRCm39) M797K probably damaging Het
Amdhd1 A T 10: 93,361,847 (GRCm39) C352S probably damaging Het
AW554918 C A 18: 25,473,356 (GRCm39) R387S probably damaging Het
Cabp1 A G 5: 115,324,102 (GRCm39) V5A possibly damaging Het
Carmil1 A G 13: 24,295,853 (GRCm39) L387P probably damaging Het
Cds2 T A 2: 132,140,403 (GRCm39) H200Q probably damaging Het
Cep170b T A 12: 112,710,581 (GRCm39) L1470Q probably damaging Het
Cnnm1 A G 19: 43,483,425 (GRCm39) D956G possibly damaging Het
Cnot8 C T 11: 58,006,100 (GRCm39) Q210* probably null Het
Cpne8 G A 15: 90,532,812 (GRCm39) T65I probably benign Het
Crygn A G 5: 24,961,156 (GRCm39) V50A probably damaging Het
Cxcr4 A G 1: 128,517,283 (GRCm39) V126A probably damaging Het
Cyp4f15 A G 17: 32,921,346 (GRCm39) D464G probably benign Het
Dapp1 C T 3: 137,687,146 (GRCm39) S12N probably benign Het
Dhps G A 8: 85,800,035 (GRCm39) G162R probably damaging Het
Dsp T G 13: 38,376,878 (GRCm39) Y1554* probably null Het
Etl4 G T 2: 20,748,853 (GRCm39) R397L probably damaging Het
Ezh2 C T 6: 47,528,659 (GRCm39) C291Y probably benign Het
Gbp9 T C 5: 105,231,678 (GRCm39) S303G probably benign Het
Gm11444 A C 11: 85,738,845 (GRCm39) S83A unknown Het
Gpat4 A G 8: 23,672,712 (GRCm39) V46A possibly damaging Het
Haus6 T C 4: 86,501,222 (GRCm39) D883G possibly damaging Het
Hinfp T C 9: 44,207,689 (GRCm39) E439G probably benign Het
Ifna14 T A 4: 88,489,599 (GRCm39) Y146F probably damaging Het
Igkv3-3 A T 6: 70,664,488 (GRCm39) Y110F probably damaging Het
Kansl2-ps A G 7: 72,322,942 (GRCm39) noncoding transcript Het
Klrh1 T A 6: 129,752,781 (GRCm39) Y8F possibly damaging Het
Mcmdc2 T C 1: 9,990,660 (GRCm39) V279A probably benign Het
Mug2 T A 6: 122,017,619 (GRCm39) V452D probably benign Het
Ndufb3 C G 1: 58,630,281 (GRCm39) probably benign Het
Oas1d G T 5: 121,057,208 (GRCm39) K271N probably benign Het
Or4c110 T A 2: 88,832,107 (GRCm39) H175L possibly damaging Het
Or5ac21 T A 16: 59,124,103 (GRCm39) F196I probably benign Het
Or9g3 A G 2: 85,590,558 (GRCm39) L54P probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcnt T A 10: 76,254,378 (GRCm39) H817L probably benign Het
Per3 G T 4: 151,097,352 (GRCm39) S724R probably benign Het
Phlpp1 T A 1: 106,101,124 (GRCm39) V464E probably damaging Het
Psme4 A G 11: 30,803,272 (GRCm39) E38G probably benign Het
Qtrt2 T C 16: 43,687,788 (GRCm39) N264S probably benign Het
Ranbp2 G A 10: 58,300,265 (GRCm39) R557H probably benign Het
Rptor T A 11: 119,494,642 (GRCm39) S3T probably benign Het
Saxo1 T A 4: 86,406,019 (GRCm39) Y60F probably damaging Het
St3gal1 A G 15: 66,985,564 (GRCm39) V30A probably benign Het
Tmem245 G A 4: 56,925,149 (GRCm39) S324L probably benign Het
Topbp1 A G 9: 103,223,871 (GRCm39) probably benign Het
Urb1 T C 16: 90,589,636 (GRCm39) T382A possibly damaging Het
Vmn1r178 A T 7: 23,593,814 (GRCm39) L214F probably benign Het
Vmn2r82 G A 10: 79,231,921 (GRCm39) C640Y probably damaging Het
Zfp804b A T 5: 6,820,013 (GRCm39) C1017S probably benign 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
R1256:Vsx2 UTSW 12 84,623,085 (GRCm39) missense probably damaging 1.00
R3438:Vsx2 UTSW 12 84,616,985 (GRCm39) missense probably damaging 0.98
R6481:Vsx2 UTSW 12 84,639,878 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTGAAGAAAGGCGGCTTTC -3'
(R):5'- TAAGCCATGTCCTCCAGCTG -3'

Sequencing Primer
(F):5'- AAAGGCGGCTTTCTGCTC -3'
(R):5'- ATGTCCTCCAGCTGCGGTG -3'
Posted On 2016-07-06