Incidental Mutation 'R6769:Otp'
ID 532098
Institutional Source Beutler Lab
Gene Symbol Otp
Ensembl Gene ENSMUSG00000021685
Gene Name orthopedia homeobox
Synonyms
MMRRC Submission 044885-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.727) question?
Stock # R6769 (G1)
Quality Score 145.008
Status Validated
Chromosome 13
Chromosomal Location 95012144-95021633 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95012294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 6 (D6G)
Ref Sequence ENSEMBL: ENSMUSP00000022195 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022195]
AlphaFold O09113
Predicted Effect probably damaging
Transcript: ENSMUST00000022195
AA Change: D6G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022195
Gene: ENSMUSG00000021685
AA Change: D6G

DomainStartEndE-ValueType
low complexity region 32 44 N/A INTRINSIC
HOX 104 166 7.29e-29 SMART
low complexity region 172 182 N/A INTRINSIC
Pfam:OAR 302 320 9.6e-11 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.9%
Validation Efficiency 98% (39/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the homeodomain (HD) family. HD family proteins are helix-turn-helix transcription factors that play key roles in the specification of cell fates. This protein may function during brain development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in impaired development of neuroendocrine cell lineages in the hypothalamus and of diencephalic dopaminergic neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 G T 8: 71,914,105 (GRCm39) H174Q probably damaging Het
Alox5 C A 6: 116,392,145 (GRCm39) probably null Het
Amer3 C A 1: 34,627,330 (GRCm39) A523D possibly damaging Het
Apoa4 G A 9: 46,154,465 (GRCm39) M355I probably benign Het
Atp10b T C 11: 43,094,079 (GRCm39) probably null Het
Atp9a A T 2: 168,516,820 (GRCm39) Y340N probably damaging Het
C1rb T G 6: 124,554,364 (GRCm39) S382A probably benign Het
Csmd1 A G 8: 16,121,408 (GRCm39) V1763A possibly damaging Het
Ctnnd1 C A 2: 84,450,269 (GRCm39) R317L probably damaging Het
Ctnnd1 A T 2: 84,450,454 (GRCm39) D255E probably damaging Het
Dipk1b A G 2: 26,524,875 (GRCm39) R92G probably benign Het
Dmxl2 A T 9: 54,323,808 (GRCm39) I1192N probably damaging Het
Efcab5 A G 11: 76,996,258 (GRCm39) V1101A probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Flg T C 3: 93,195,630 (GRCm39) probably benign Het
Fras1 A G 5: 96,746,800 (GRCm39) I623M possibly damaging Het
Gm7361 T A 5: 26,462,767 (GRCm39) L3* probably null Het
Gpr35 T A 1: 92,910,426 (GRCm39) M46K probably damaging Het
Ighv2-9 A T 12: 113,842,930 (GRCm39) F46I possibly damaging Het
Kdm4b C T 17: 56,658,754 (GRCm39) A33V possibly damaging Het
Klhl5 T A 5: 65,321,995 (GRCm39) Y534N probably damaging Het
Mccc1 C T 3: 36,043,992 (GRCm39) probably null Het
Memo1 A T 17: 74,508,273 (GRCm39) F270L probably damaging Het
Mnat1 A G 12: 73,319,196 (GRCm39) N273S probably benign Het
Niban2 C T 2: 32,785,666 (GRCm39) Het
Nxpe3 C A 16: 55,686,471 (GRCm39) G179V probably damaging Het
Or5b120 T A 19: 13,480,318 (GRCm39) F204I possibly damaging Het
Prdm5 T A 6: 65,839,920 (GRCm39) I265K probably damaging Het
Ptpn4 T A 1: 119,643,698 (GRCm39) N350I probably benign Het
Rassf10 A G 7: 112,553,635 (GRCm39) M79V probably benign Het
Rassf4 T A 6: 116,618,433 (GRCm39) D215V possibly damaging Het
Rbm12 A T 2: 155,939,375 (GRCm39) I299N possibly damaging Het
Scfd2 T C 5: 74,692,117 (GRCm39) H55R probably benign Het
Scn8a A G 15: 100,933,445 (GRCm39) N1550D probably benign Het
Skic2 G A 17: 35,064,166 (GRCm39) R507* probably null Het
Slc30a5 A C 13: 100,950,368 (GRCm39) S240A probably benign Het
Slc7a4 A G 16: 17,393,184 (GRCm39) V205A possibly damaging Het
Syde2 G A 3: 145,704,803 (GRCm39) G318E probably damaging Het
Ttn T A 2: 76,538,883 (GRCm39) D34649V possibly damaging Het
Vmn2r83 T A 10: 79,313,856 (GRCm39) S155T probably damaging Het
Other mutations in Otp
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0102:Otp UTSW 13 95,013,663 (GRCm39) missense probably benign 0.24
R0562:Otp UTSW 13 95,013,917 (GRCm39) missense probably damaging 1.00
R3972:Otp UTSW 13 95,019,692 (GRCm39) missense probably damaging 0.98
R6163:Otp UTSW 13 95,012,288 (GRCm39) missense probably damaging 0.99
R6771:Otp UTSW 13 95,012,294 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGACATTATAATGCAAGAAGCCCC -3'
(R):5'- ATTATCGCGGGCTAGAACTCC -3'

Sequencing Primer
(F):5'- TGCAAGAAGCCCCCTTTTTAAC -3'
(R):5'- GGTGTCAGCATCCCCAACTC -3'
Posted On 2018-08-29