Incidental Mutation 'R1022:Otx2'
ID 98803
Institutional Source Beutler Lab
Gene Symbol Otx2
Ensembl Gene ENSMUSG00000021848
Gene Name orthodenticle homeobox 2
Synonyms E130306E05Rik
MMRRC Submission 039124-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1022 (G1)
Quality Score 106
Status Not validated
Chromosome 14
Chromosomal Location 48894238-48905101 bp(-) (GRCm39)
Type of Mutation small deletion (1 aa in frame mutation)
DNA Base Change (assembly) TCTGCTGCTGCTGCTGCTG to TCTGCTGCTGCTGCTG at 48896729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118578] [ENSMUST00000119070] [ENSMUST00000119739] [ENSMUST00000122009] [ENSMUST00000133479] [ENSMUST00000135279] [ENSMUST00000144465] [ENSMUST00000152018] [ENSMUST00000227404] [ENSMUST00000226501]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000118578
SMART Domains Protein: ENSMUSP00000113690
Gene: ENSMUSG00000021848

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
SMART Domains Protein: ENSMUSP00000112532
Gene: ENSMUSG00000021848

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
SMART Domains Protein: ENSMUSP00000113930
Gene: ENSMUSG00000021848

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: 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
Predicted Effect probably benign
Transcript: ENSMUST00000227404
Predicted Effect probably benign
Transcript: ENSMUST00000226501
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.7%
  • 10x: 94.5%
  • 20x: 87.2%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn2l A T 7: 126,096,466 (GRCm39) N425K probably benign Het
Ccar2 A G 14: 70,377,964 (GRCm39) S674P probably damaging Het
Cdc14b A T 13: 64,363,490 (GRCm39) V257E probably damaging Het
Cfap100 T A 6: 90,389,986 (GRCm39) T101S possibly damaging Het
Dock6 A T 9: 21,744,908 (GRCm39) L556H probably damaging Het
Dqx1 G A 6: 83,038,070 (GRCm39) C486Y probably damaging Het
Drd1 T A 13: 54,207,333 (GRCm39) M294L probably benign Het
Extl1 TGCGTTGCACCGATACCGGG TG 4: 134,084,988 (GRCm39) probably benign Het
Fcho2 A T 13: 98,869,167 (GRCm39) I568N probably damaging Het
Folr1 A G 7: 101,507,810 (GRCm39) M210T probably damaging Het
Gatc T A 5: 115,478,904 (GRCm39) probably null Het
H1f7 G A 15: 98,154,636 (GRCm39) T171I unknown Het
Hnrnpd C A 5: 100,114,016 (GRCm39) *87L probably null Het
Hpd C T 5: 123,312,532 (GRCm39) R279H possibly damaging Het
Igfals G A 17: 25,099,457 (GRCm39) V183M probably damaging Het
Marchf2 C A 17: 33,928,762 (GRCm39) G45C probably damaging Het
Myo15a A T 11: 60,370,442 (GRCm39) R1067S probably benign Het
Nell1 A G 7: 49,770,411 (GRCm39) S157G probably damaging Het
Nf1 A T 11: 79,437,859 (GRCm39) E2072D probably damaging Het
Nop2 T A 6: 125,114,149 (GRCm39) V205E probably benign Het
Nudt8 T A 19: 4,051,925 (GRCm39) W179R probably damaging Het
Or4k5 A T 14: 50,385,384 (GRCm39) F316I probably benign Het
Prl5a1 G A 13: 28,333,880 (GRCm39) V128I probably damaging Het
Pth1r A T 9: 110,571,295 (GRCm39) L25Q probably damaging Het
Pth1r T C 9: 110,558,689 (GRCm39) D96G probably benign Het
Rwdd2b A T 16: 87,233,738 (GRCm39) C121S probably damaging Het
Scn10a A G 9: 119,438,340 (GRCm39) I1843T probably damaging Het
Sirt5 A G 13: 43,524,245 (GRCm39) I6V probably benign Het
Slc5a3 G A 16: 91,874,383 (GRCm39) A147T probably damaging Het
Stxbp1 T C 2: 32,704,979 (GRCm39) probably null Het
Syt3 G T 7: 44,040,106 (GRCm39) G113V probably damaging Het
Tatdn2 A G 6: 113,686,506 (GRCm39) T644A probably damaging Het
Trim9 T A 12: 70,298,791 (GRCm39) probably null Het
Tut1 A G 19: 8,936,719 (GRCm39) N181S probably benign Het
Vmn2r90 A T 17: 17,948,400 (GRCm39) I549F probably damaging Het
Other mutations in Otx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00510:Otx2 APN 14 48,896,192 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- CCCCAAAGTAGGAAGTTGAGCCAG -3'
(R):5'- ACTCCGCATAAGGTGGACTTTCCC -3'

Sequencing Primer
(F):5'- TTGAGCCAGCATAGCCTTGAC -3'
(R):5'- GGTGGACTTTCCCACAACAG -3'
Posted On 2014-01-09