Incidental Mutation 'R0102:Otp'
ID 99008
Institutional Source Beutler Lab
Gene Symbol Otp
Ensembl Gene ENSMUSG00000021685
Gene Name orthopedia homeobox
Synonyms
MMRRC Submission 038388-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.671) question?
Stock # R0102 (G1)
Quality Score 41
Status Validated
Chromosome 13
Chromosomal Location 95012144-95021633 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95013663 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 27 (V27A)
Ref Sequence ENSEMBL: ENSMUSP00000022195 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022195]
AlphaFold O09113
Predicted Effect probably benign
Transcript: ENSMUST00000022195
AA Change: V27A

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000022195
Gene: ENSMUSG00000021685
AA Change: V27A

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
Meta Mutation Damage Score 0.0620 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.5%
  • 20x: 91.8%
Validation Efficiency 98% (65/66)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,874 (GRCm39) K1021R probably damaging Het
2610528J11Rik G A 4: 118,386,762 (GRCm39) V36M probably damaging Het
4930402F06Rik T A 2: 35,265,795 (GRCm39) R292* probably null Het
Abcb4 T C 5: 8,959,194 (GRCm39) F207S probably damaging Het
Afap1l2 G T 19: 56,916,872 (GRCm39) probably benign Het
Arfgef2 A T 2: 166,687,385 (GRCm39) H203L probably benign Het
Cfi A C 3: 129,642,416 (GRCm39) H90P probably damaging Het
Col1a2 T A 6: 4,520,775 (GRCm39) S371T possibly damaging Het
Cyp2d10 C T 15: 82,288,794 (GRCm39) M229I probably benign Het
Dnah5 A G 15: 28,245,897 (GRCm39) probably benign Het
Dnttip2 G T 3: 122,069,452 (GRCm39) M222I probably benign Het
Dync1li2 A T 8: 105,154,757 (GRCm39) Y284N probably benign Het
Ebf1 T C 11: 44,882,282 (GRCm39) Y413H probably benign Het
Exog A G 9: 119,281,319 (GRCm39) T186A possibly damaging Het
Fam171a2 T C 11: 102,334,939 (GRCm39) N66S possibly damaging Het
Gad1 G A 2: 70,417,583 (GRCm39) probably null Het
Golgb1 C A 16: 36,695,830 (GRCm39) probably benign Het
Gprc5a A T 6: 135,056,033 (GRCm39) N160I probably damaging Het
Haus3 A G 5: 34,323,258 (GRCm39) probably null Het
Klhl20 A T 1: 160,918,015 (GRCm39) C90* probably null Het
Krt84 T A 15: 101,437,138 (GRCm39) I342L probably damaging Het
Lifr G A 15: 7,208,373 (GRCm39) D584N probably damaging Het
Lrp1b G A 2: 41,298,997 (GRCm39) probably benign Het
Lrtm1 T A 14: 28,744,184 (GRCm39) probably benign Het
Med25 C T 7: 44,534,904 (GRCm39) V80I possibly damaging Het
Mest A G 6: 30,746,269 (GRCm39) I279V probably damaging Het
Mki67 T C 7: 135,315,532 (GRCm39) R81G probably benign Het
Naa25 A G 5: 121,573,632 (GRCm39) D787G possibly damaging Het
Naaladl1 C T 19: 6,162,534 (GRCm39) P465S probably damaging Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Necab3 G A 2: 154,387,232 (GRCm39) R302C probably damaging Het
Nsg1 A T 5: 38,316,254 (GRCm39) D32E probably damaging Het
Nuggc A G 14: 65,851,000 (GRCm39) D290G probably null Het
Nup205 A T 6: 35,202,715 (GRCm39) probably benign Het
Or11g27 T A 14: 50,771,088 (GRCm39) L73Q probably damaging Het
Or2w6 T C 13: 21,842,905 (GRCm39) D196G probably damaging Het
Or4a77 T C 2: 89,486,999 (GRCm39) N262S probably benign Het
Or4c111 T C 2: 88,844,015 (GRCm39) Y131C probably damaging Het
Or4f57 G C 2: 111,790,942 (GRCm39) Q159E probably damaging Het
Or8h10 A T 2: 86,808,549 (GRCm39) I197N possibly damaging Het
Phip A T 9: 82,787,845 (GRCm39) probably null Het
Pon2 A G 6: 5,289,091 (GRCm39) probably benign Het
Ppp1r12b T A 1: 134,763,637 (GRCm39) probably null Het
Ppp1r15b A G 1: 133,060,908 (GRCm39) N475S probably damaging Het
Prrt3 A T 6: 113,474,790 (GRCm39) L144H probably damaging Het
Psmb7 A G 2: 38,533,377 (GRCm39) V50A possibly damaging Het
Sacs T A 14: 61,442,017 (GRCm39) S1354R probably damaging Het
Sdcbp2 A G 2: 151,425,884 (GRCm39) T29A probably benign Het
Shbg T A 11: 69,508,415 (GRCm39) probably benign Het
Shcbp1 A G 8: 4,794,452 (GRCm39) I447T probably damaging Het
Tbc1d9b T C 11: 50,026,676 (GRCm39) V48A probably damaging Het
Thbd A T 2: 148,248,903 (GRCm39) C322S probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trappc12 A T 12: 28,796,751 (GRCm39) F260L probably damaging Het
Trim10 C A 17: 37,181,074 (GRCm39) H102N probably damaging Het
Ube2u A G 4: 100,407,122 (GRCm39) T215A possibly damaging Het
Vcan T G 13: 89,851,787 (GRCm39) T1058P probably benign Het
Other mutations in Otp
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6769:Otp UTSW 13 95,012,294 (GRCm39) missense probably damaging 1.00
R6771:Otp UTSW 13 95,012,294 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGAGGCCAGGAGATGCTATTTCAAC -3'
(R):5'- AGCTCCTCACGCATGAAGATGTCG -3'

Sequencing Primer
(F):5'- GAGATGCTATTTCAACCTAGCTGTC -3'
(R):5'- AGTCTTGGCGAAGCTCCTC -3'
Posted On 2014-01-10