Incidental Mutation 'R4118:Otx2'
ID 315190
Institutional Source Beutler Lab
Gene Symbol Otx2
Ensembl Gene ENSMUSG00000021848
Gene Name orthodenticle homeobox 2
Synonyms E130306E05Rik
MMRRC Submission 041631-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4118 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 48894238-48905101 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 48896611 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 141 (T141I)
Ref Sequence ENSEMBL: ENSMUSP00000154066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118578] [ENSMUST00000119070] [ENSMUST00000119739] [ENSMUST00000122009] [ENSMUST00000133479] [ENSMUST00000135279] [ENSMUST00000152018] [ENSMUST00000226501] [ENSMUST00000227404] [ENSMUST00000144465]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000118578
AA Change: T141I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000113690
Gene: ENSMUSG00000021848
AA Change: T141I

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: T149I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000112532
Gene: ENSMUSG00000021848
AA Change: T149I

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: T141I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000113930
Gene: ENSMUSG00000021848
AA Change: T141I

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: ENSMUST00000152018
AA Change: T141I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000123454
Gene: ENSMUSG00000021848
AA Change: T141I

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: ENSMUST00000226501
AA Change: T141I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000227404
AA Change: T141I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000144465
SMART Domains Protein: ENSMUSP00000116630
Gene: ENSMUSG00000021848

DomainStartEndE-ValueType
HOX 46 98 3.83e-14 SMART
Meta Mutation Damage Score 0.0753 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 92% (55/60)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T C 3: 124,373,503 (GRCm39) R31G possibly damaging Het
4932414N04Rik C T 2: 68,566,857 (GRCm39) R419C probably benign Het
Ankmy1 T C 1: 92,816,418 (GRCm39) E232G possibly damaging Het
Arhgef4 A T 1: 34,771,428 (GRCm39) K1245M probably damaging Het
Atp2c1 A G 9: 105,343,858 (GRCm39) L83P probably damaging Het
Atp9b T C 18: 80,793,044 (GRCm39) D1000G possibly damaging Het
Atxn7 T C 14: 14,100,308 (GRCm38) S665P probably benign Het
Bbs4 T C 9: 59,237,708 (GRCm39) Y212C possibly damaging Het
Cars1 A G 7: 143,113,384 (GRCm39) probably null Het
Cep162 T C 9: 87,086,229 (GRCm39) T1032A probably benign Het
Chd7 G A 4: 8,865,831 (GRCm39) E668K probably damaging Het
Dek T C 13: 47,242,076 (GRCm39) T201A probably benign Het
Depdc5 T A 5: 33,121,979 (GRCm39) S1079T probably damaging Het
Etaa1 A T 11: 17,896,180 (GRCm39) S646T probably benign Het
Fat1 T C 8: 45,463,474 (GRCm39) S1339P probably damaging Het
Fat1 C A 8: 45,503,981 (GRCm39) D4491E probably damaging Het
Gmps T C 3: 63,887,615 (GRCm39) V29A probably benign Het
Gpr18 T C 14: 122,149,968 (GRCm39) E19G probably benign Het
Ipo5 A G 14: 121,176,073 (GRCm39) T633A probably benign Het
Jmjd1c T A 10: 67,055,532 (GRCm39) S317R probably damaging Het
Lama3 T A 18: 12,583,488 (GRCm39) M692K probably benign Het
Lrp12 A T 15: 39,741,361 (GRCm39) C451* probably null Het
Lrp2 C T 2: 69,260,606 (GRCm39) probably null Het
Myrfl T A 10: 116,664,870 (GRCm39) I387F probably damaging Het
Naglu G A 11: 100,964,908 (GRCm39) V332I probably benign Het
Nat2 G A 8: 67,954,271 (GRCm39) R127H possibly damaging Het
Paqr9 T A 9: 95,442,952 (GRCm39) I314N probably damaging Het
Pds5b CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 5: 150,698,819 (GRCm39) probably benign Het
Ppm1d A G 11: 85,202,408 (GRCm39) D37G probably benign Het
Prdm9 T G 17: 15,764,275 (GRCm39) D835A probably benign Het
Ptprq A G 10: 107,547,781 (GRCm39) S206P probably benign Het
Rapgef2 A G 3: 78,976,194 (GRCm39) probably null Het
Rpgrip1l G A 8: 91,979,535 (GRCm39) T969I probably benign Het
Rpp40 A G 13: 36,080,787 (GRCm39) Y316H probably damaging Het
Serpinb3d A T 1: 107,006,960 (GRCm39) D249E possibly damaging Het
Slc22a29 A C 19: 8,137,893 (GRCm39) probably benign Het
Slc35f1 T C 10: 52,965,464 (GRCm39) M293T probably damaging Het
Slmap A T 14: 26,204,027 (GRCm39) L98H probably damaging Het
Tiam1 C T 16: 89,673,921 (GRCm39) probably null Het
Tlr11 A G 14: 50,600,684 (GRCm39) Y890C probably damaging Het
Tmem131l T C 3: 83,868,074 (GRCm39) T194A probably benign Het
Ubap1 A T 4: 41,371,767 (GRCm39) D26V probably damaging Het
Vmn2r91 T A 17: 18,330,358 (GRCm39) N547K probably damaging Het
Wiz C T 17: 32,588,331 (GRCm39) probably benign Het
Wwp2 A G 8: 108,272,091 (GRCm39) T399A probably benign Het
Zfp729b A T 13: 67,740,829 (GRCm39) F479I possibly damaging Het
Zswim5 G A 4: 116,844,016 (GRCm39) R1018H possibly 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
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
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'- CCCAAAGTAGGAAGTTGAGCC -3'
(R):5'- GCCATGTGATCTGGGATGACTC -3'

Sequencing Primer
(F):5'- TTGAGCCAGCATAGCCTTGAC -3'
(R):5'- AAGTTTCTTTCCCTTTCAAGGTATGG -3'
Posted On 2015-05-14