Incidental Mutation 'IGL00510:Otx2'
ID 5883
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Otx2
Ensembl Gene ENSMUSG00000021848
Gene Name orthodenticle homeobox 2
Synonyms E130306E05Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00510
Quality Score
Status
Chromosome 14
Chromosomal Location 48894238-48905101 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48896192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 289 (T289A)
Ref Sequence ENSEMBL: ENSMUSP00000112532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118578] [ENSMUST00000119070] [ENSMUST00000119739] [ENSMUST00000122009] [ENSMUST00000133479] [ENSMUST00000135279] [ENSMUST00000227404] [ENSMUST00000226501] [ENSMUST00000144465] [ENSMUST00000152018]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000118578
AA Change: T281A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113690
Gene: ENSMUSG00000021848
AA Change: T281A

DomainStartEndE-ValueType
HOX 38 100 9.7e-25 SMART
low complexity region 132 151 N/A INTRINSIC
Pfam:TF_Otx 153 235 4.5e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119070
AA Change: T289A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112532
Gene: ENSMUSG00000021848
AA Change: T289A

DomainStartEndE-ValueType
HOX 46 108 9.7e-25 SMART
low complexity region 140 159 N/A INTRINSIC
Pfam:TF_Otx 161 242 1.6e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119739
Predicted Effect probably benign
Transcript: ENSMUST00000122009
AA Change: T281A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113930
Gene: ENSMUSG00000021848
AA Change: T281A

DomainStartEndE-ValueType
HOX 38 100 9.7e-25 SMART
low complexity region 132 151 N/A INTRINSIC
Pfam:TF_Otx 153 235 4.5e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133479
SMART Domains Protein: ENSMUSP00000122200
Gene: ENSMUSG00000021848

DomainStartEndE-ValueType
Pfam:Homeobox 39 63 1.3e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135279
SMART Domains Protein: ENSMUSP00000123046
Gene: ENSMUSG00000021848

DomainStartEndE-ValueType
HOX 1 34 2.62e-1 SMART
low complexity region 66 85 N/A INTRINSIC
Pfam:TF_Otx 87 154 2e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000227404
AA Change: T281A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000226501
AA Change: T281A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000144465
SMART Domains Protein: ENSMUSP00000116630
Gene: ENSMUSG00000021848

DomainStartEndE-ValueType
HOX 46 98 3.83e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000152018
SMART Domains Protein: ENSMUSP00000123454
Gene: ENSMUSG00000021848

DomainStartEndE-ValueType
HOX 38 100 9.7e-25 SMART
low complexity region 132 151 N/A INTRINSIC
Pfam:TF_Otx 153 207 3.5e-27 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein that belongs to the homeobox family of transcription factors. The encoded protein plays a role in the development and patterning of the head. This protein regulates development of the choroid plexuses in the brain affecting composition of cerebrospinal fluid in the developing brain and is thought to function in the development of sense organs in the embryo. In humans, mutations in this gene are associated with pituitary hormone deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality during organogenesis due to abnormal gastrulation and embryonic patterning in the brain and heart. Mice heterozygous for another knock-out allele exhibit female-specific lethality, reduced male fertility and abnoral gonadotrophs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 A G 3: 137,995,668 (GRCm39) N357S probably damaging Het
Akap4 A G X: 6,942,863 (GRCm39) T389A probably damaging Het
Aldh3a1 A G 11: 61,104,422 (GRCm39) E103G probably damaging Het
Aldh3b3 C A 19: 4,015,863 (GRCm39) Q278K probably benign Het
Ap3m2 A T 8: 23,287,243 (GRCm39) probably null Het
Asxl3 G T 18: 22,656,622 (GRCm39) C1544F probably damaging Het
Chd7 A G 4: 8,801,404 (GRCm39) D716G probably damaging Het
Dennd1b G T 1: 139,029,809 (GRCm39) R322L probably damaging Het
Dnah7a C T 1: 53,540,701 (GRCm39) V2558M probably damaging Het
Fbp2 T C 13: 62,989,698 (GRCm39) I203V possibly damaging Het
Gnai1 T A 5: 18,496,617 (GRCm39) D102V probably benign Het
Gtf2h1 C T 7: 46,468,634 (GRCm39) T524I possibly damaging Het
Hinfp G A 9: 44,209,063 (GRCm39) R352C probably damaging Het
Lpin1 G A 12: 16,603,993 (GRCm39) H613Y probably benign Het
Med29 C T 7: 28,090,266 (GRCm39) A110T possibly damaging Het
Myo9a T C 9: 59,739,464 (GRCm39) probably benign Het
Nlgn1 G T 3: 25,490,654 (GRCm39) P329T probably benign Het
Osmr G T 15: 6,853,112 (GRCm39) Y593* probably null Het
Pkn2 T C 3: 142,504,780 (GRCm39) T799A probably damaging Het
Plcb1 T A 2: 135,093,676 (GRCm39) V163D possibly damaging Het
Rgs3 G A 4: 62,619,417 (GRCm39) A501T possibly damaging Het
Rnf103 T C 6: 71,486,733 (GRCm39) S455P probably damaging Het
Slc9c1 A G 16: 45,360,002 (GRCm39) T19A probably benign Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Spryd7 T A 14: 61,783,190 (GRCm39) N111Y probably damaging Het
Zfp687 A G 3: 94,915,758 (GRCm39) S1005P probably damaging Het
Other mutations in Otx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02194:Otx2 APN 14 48,898,850 (GRCm39) missense possibly damaging 0.95
IGL03214:Otx2 APN 14 48,898,781 (GRCm39) missense probably damaging 1.00
IGL03393:Otx2 APN 14 48,898,781 (GRCm39) missense probably damaging 1.00
R1022:Otx2 UTSW 14 48,896,729 (GRCm39) small deletion probably benign
R3430:Otx2 UTSW 14 48,896,254 (GRCm39) missense probably damaging 1.00
R4118:Otx2 UTSW 14 48,896,611 (GRCm39) missense probably benign 0.01
R6058:Otx2 UTSW 14 48,896,215 (GRCm39) missense probably damaging 1.00
R7009:Otx2 UTSW 14 48,896,254 (GRCm39) missense probably damaging 1.00
R7090:Otx2 UTSW 14 48,896,192 (GRCm39) missense probably benign 0.11
R7285:Otx2 UTSW 14 48,898,922 (GRCm39) missense probably benign 0.00
R8712:Otx2 UTSW 14 48,896,521 (GRCm39) missense probably damaging 0.99
R9110:Otx2 UTSW 14 48,896,227 (GRCm39) missense probably damaging 1.00
R9695:Otx2 UTSW 14 48,899,952 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20