Incidental Mutation 'IGL03368:Vsx2'
ID420191
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vsx2
Ensembl Gene ENSMUSG00000021239
Gene Namevisual system homeobox 2
SynonymsHox10, Chx10, Hox-10
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.901) question?
Stock #IGL03368
Quality Score
Status
Chromosome12
Chromosomal Location84569762-84595457 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 84570300 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 120 (T120A)
Ref Sequence ENSEMBL: ENSMUSP00000021665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021665] [ENSMUST00000169934]
Predicted Effect probably benign
Transcript: ENSMUST00000021665
AA Change: T120A

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000021665
Gene: ENSMUSG00000021239
AA Change: T120A

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: T120A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000131009
Gene: ENSMUSG00000021239
AA Change: T120A

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
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T C 15: 8,222,373 V1914A probably benign Het
A530053G22Rik T C 6: 60,403,545 noncoding transcript Het
Abca5 A G 11: 110,313,522 probably benign Het
Agxt2 T A 15: 10,388,170 C278* probably null Het
Ankar A G 1: 72,675,813 L384P probably damaging Het
Ankrd55 T C 13: 112,318,556 probably benign Het
Ap5m1 A G 14: 49,081,136 probably benign Het
Arhgap18 C T 10: 26,772,693 S37F possibly damaging Het
Btnl10 G A 11: 58,919,386 V118I possibly damaging Het
Chst11 C A 10: 83,092,146 P66T probably benign Het
Cited2 C A 10: 17,724,196 P84Q possibly damaging Het
D430042O09Rik T C 7: 125,868,858 probably benign Het
Dpy19l4 T A 4: 11,290,253 I302F possibly damaging Het
Ece2 A G 16: 20,644,158 E640G possibly damaging Het
Fam184b T C 5: 45,531,824 D890G possibly damaging Het
Fam227b A T 2: 126,119,063 D215E probably damaging Het
Foxp2 A G 6: 15,394,718 K139R probably damaging Het
Gle1 T C 2: 29,943,793 C401R probably damaging Het
Gp2 A T 7: 119,452,874 C206S probably damaging Het
Hdgfl2 G T 17: 56,079,746 probably benign Het
Hmcn1 T C 1: 150,663,872 N2956S probably damaging Het
Ifi209 A G 1: 173,642,491 Q215R possibly damaging Het
Il20rb C T 9: 100,459,121 probably benign Het
Kif26b A C 1: 178,916,208 S1290R probably damaging Het
Mical1 A G 10: 41,479,629 I156M probably damaging Het
Nbas C T 12: 13,328,451 A613V probably benign Het
Nbea C T 3: 56,079,930 V380M probably damaging Het
Nutf2 T C 8: 105,875,600 F14S probably damaging Het
Olfr1260 A T 2: 89,977,789 I4L probably benign Het
Olfr582 T A 7: 103,041,765 H95Q possibly damaging Het
Parp1 A G 1: 180,580,622 E236G probably benign Het
Podnl1 G A 8: 84,132,189 V548I probably benign Het
Ptcd2 T A 13: 99,330,069 probably benign Het
Pygl T C 12: 70,191,152 Q704R probably benign Het
Scaper A T 9: 55,656,027 S492T possibly damaging Het
Sephs1 G A 2: 4,889,269 D94N possibly damaging Het
Slc22a29 A C 19: 8,207,262 probably null Het
Slc22a8 G T 19: 8,609,119 probably benign Het
Slfn5 A G 11: 82,956,385 D32G possibly damaging Het
Sphkap T A 1: 83,275,676 T1451S probably benign Het
Srp54a A C 12: 55,091,266 E63A probably null Het
Stap1 T A 5: 86,090,968 I165N probably damaging Het
Terf2 T C 8: 107,070,549 E494G probably damaging Het
Trak1 C A 9: 121,367,122 L7I possibly damaging Het
Twnk T C 19: 45,010,492 V557A probably damaging Het
U2af2 T A 7: 5,067,264 probably benign Het
Ube2j1 T A 4: 33,038,317 I75N probably damaging Het
Ubr5 A G 15: 37,998,316 V1643A probably damaging Het
Other mutations in Vsx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0005:Vsx2 UTSW 12 84570241 missense possibly damaging 0.78
R0413:Vsx2 UTSW 12 84570003 missense probably benign 0.00
R1256:Vsx2 UTSW 12 84576311 missense probably damaging 1.00
R3438:Vsx2 UTSW 12 84570211 missense probably damaging 0.98
R5199:Vsx2 UTSW 12 84593210 missense probably benign 0.31
R6481:Vsx2 UTSW 12 84593104 missense probably benign
Posted On2016-08-02