Incidental Mutation 'R7285:Otx2'
ID 565955
Institutional Source Beutler Lab
Gene Symbol Otx2
Ensembl Gene ENSMUSG00000021848
Gene Name orthodenticle homeobox 2
Synonyms E130306E05Rik
MMRRC Submission 045393-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7285 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 48894238-48905101 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 48898922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 36 (A36V)
Ref Sequence ENSEMBL: ENSMUSP00000112532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118578] [ENSMUST00000119070] [ENSMUST00000119739] [ENSMUST00000122009] [ENSMUST00000133479] [ENSMUST00000144465] [ENSMUST00000152018] [ENSMUST00000226501] [ENSMUST00000227404]
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
AA Change: A36V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000112532
Gene: ENSMUSG00000021848
AA Change: A36V

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 probably benign
Transcript: ENSMUST00000144465
AA Change: A36V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000116630
Gene: ENSMUSG00000021848
AA Change: A36V

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: ENSMUST00000226501
Predicted Effect probably benign
Transcript: ENSMUST00000227404
Meta Mutation Damage Score 0.0688 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (58/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,388,314 (GRCm39) C185* probably null Het
Abcc3 C T 11: 94,247,873 (GRCm39) A1207T probably benign Het
Adam1b T G 5: 121,639,056 (GRCm39) D663A probably damaging Het
Arhgap12 A T 18: 6,111,920 (GRCm39) L148Q probably damaging Het
Cdh4 A T 2: 179,439,258 (GRCm39) Q135L probably benign Het
Clca3b T C 3: 144,543,519 (GRCm39) I437V probably benign Het
Cldn15 A T 5: 137,001,327 (GRCm39) H124L probably benign Het
Cyp4a30b T C 4: 115,313,848 (GRCm39) M143T probably damaging Het
Dgcr2 A T 16: 17,662,944 (GRCm39) C353* probably null Het
Dhcr24 T A 4: 106,428,716 (GRCm39) probably null Het
Dock1 T G 7: 134,346,737 (GRCm39) L223R probably benign Het
Ece1 T A 4: 137,641,074 (GRCm39) probably null Het
Efcab5 A G 11: 77,028,170 (GRCm39) V387A probably benign Het
Efcab5 A G 11: 77,029,041 (GRCm39) F97L possibly damaging Het
Eme2 A T 17: 25,113,543 (GRCm39) probably null Het
Enpp1 G A 10: 24,536,059 (GRCm39) T447I probably benign Het
Fam222b T C 11: 78,034,007 (GRCm39) S17P probably benign Het
Fbln1 A G 15: 85,121,829 (GRCm39) I317V probably benign Het
Fn1 T C 1: 71,676,498 (GRCm39) K578E probably damaging Het
Fscb A T 12: 64,518,323 (GRCm39) S1048T unknown Het
Fsd1l T A 4: 53,682,200 (GRCm39) probably null Het
Hexa T A 9: 59,471,222 (GRCm39) I492K probably benign Het
Inpp5e G A 2: 26,287,870 (GRCm39) A642V probably benign Het
Ints11 C T 4: 155,970,568 (GRCm39) A241V probably damaging Het
Irs2 A G 8: 11,056,797 (GRCm39) L545P probably damaging Het
Katnal2 G A 18: 77,081,271 (GRCm39) A409V probably benign Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Lbx2 A G 6: 83,064,877 (GRCm39) K138R probably damaging Het
Lcor A G 19: 41,572,754 (GRCm39) K503R possibly damaging Het
Lpp G A 16: 24,796,029 (GRCm39) A558T probably damaging Het
Lypla1 T C 1: 4,911,321 (GRCm39) I202T probably benign Het
Magi3 G A 3: 103,941,430 (GRCm39) P842S probably benign Het
Meioc G A 11: 102,557,168 (GRCm39) V25M probably benign Het
Mthfr C T 4: 148,138,056 (GRCm39) T557I probably benign Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Or2t44 T A 11: 58,677,310 (GRCm39) Y83* probably null Het
Or5d20-ps1 A T 2: 87,932,049 (GRCm39) I94N probably damaging Het
Osbpl10 A T 9: 115,052,771 (GRCm39) I440F probably damaging Het
Parg A G 14: 31,932,465 (GRCm39) Y435C probably damaging Het
Parvb A T 15: 84,166,985 (GRCm39) D100V possibly damaging Het
Prss27 A G 17: 24,264,665 (GRCm39) H276R probably benign Het
Prune1 T A 3: 95,162,357 (GRCm39) S439C probably damaging Het
Pudp C G 18: 50,701,287 (GRCm39) E149Q possibly damaging Het
Qng1 T C 13: 58,532,199 (GRCm39) Y119C probably damaging Het
Sin3a C A 9: 57,034,583 (GRCm39) T1252N possibly damaging Het
Sptbn2 A G 19: 4,787,471 (GRCm39) D927G probably benign Het
Stx18 C T 5: 38,262,251 (GRCm39) T89I possibly damaging Het
Ticrr T C 7: 79,310,610 (GRCm39) S175P possibly damaging Het
Tinag T C 9: 76,952,943 (GRCm39) T14A probably benign Het
Tmco3 G A 8: 13,369,605 (GRCm39) probably null Het
Trpm1 G T 7: 63,859,729 (GRCm39) E396* probably null Het
Txndc11 A G 16: 10,902,163 (GRCm39) Y684H probably damaging Het
Usp47 G A 7: 111,692,315 (GRCm39) E926K probably benign Het
Vmn1r233 A G 17: 21,214,221 (GRCm39) I243T probably damaging Het
Ythdf3 T A 3: 16,258,049 (GRCm39) probably null Het
Zfp12 A G 5: 143,230,444 (GRCm39) K289R probably damaging Het
Zfp950 T A 19: 61,107,550 (GRCm39) H511L probably benign 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
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
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'- CAAGGCCTCATTGGGTCATCAG -3'
(R):5'- AAGTAATTTGTAGCTGGCGTCG -3'

Sequencing Primer
(F):5'- GCCTCATTGGGTCATCAGTATAAACC -3'
(R):5'- ATTACACTGGGAGGTCGT -3'
Posted On 2019-06-26