Incidental Mutation 'R5412:Otop1'
ID 427527
Institutional Source Beutler Lab
Gene Symbol Otop1
Ensembl Gene ENSMUSG00000051596
Gene Name otopetrin 1
Synonyms tlt, A530025J20Rik
MMRRC Submission 042981-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R5412 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 38434748-38461560 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38455328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 241 (I241V)
Ref Sequence ENSEMBL: ENSMUSP00000109734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063136] [ENSMUST00000114099]
AlphaFold Q80VM9
Predicted Effect probably benign
Transcript: ENSMUST00000063136
AA Change: I238V

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000061805
Gene: ENSMUSG00000051596
AA Change: I238V

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
transmembrane domain 60 82 N/A INTRINSIC
transmembrane domain 87 106 N/A INTRINSIC
Pfam:Otopetrin 127 239 1.6e-13 PFAM
Pfam:Otopetrin 240 456 1.9e-16 PFAM
low complexity region 462 471 N/A INTRINSIC
Pfam:Otopetrin 518 583 3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114099
AA Change: I241V

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000109734
Gene: ENSMUSG00000051596
AA Change: I241V

DomainStartEndE-ValueType
low complexity region 2 27 N/A INTRINSIC
transmembrane domain 63 85 N/A INTRINSIC
transmembrane domain 90 109 N/A INTRINSIC
Pfam:Otopetrin 130 457 3.1e-40 PFAM
low complexity region 466 475 N/A INTRINSIC
Pfam:Otopetrin 513 587 2.9e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185357
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187863
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutant mice display vestibular abnormalities associated with absent otoconia. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted(3) Spontaneous(1) Chemically induced(2)

Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T A 9: 55,886,036 (GRCm39) N36Y probably damaging Het
Ankfn1 T A 11: 89,396,007 (GRCm39) E246D probably benign Het
Arid1a T C 4: 133,446,913 (GRCm39) probably benign Het
Bbs7 A T 3: 36,653,522 (GRCm39) D300E probably benign Het
C3 T C 17: 57,527,187 (GRCm39) D754G probably benign Het
Ccpg1 A T 9: 72,917,588 (GRCm39) Q240L probably damaging Het
Cdk13 G A 13: 17,941,115 (GRCm39) P650S probably damaging Het
Celsr2 G T 3: 108,307,311 (GRCm39) S1933Y probably damaging Het
Cep135 T A 5: 76,764,709 (GRCm39) H562Q probably benign Het
Cyp26a1 G T 19: 37,689,630 (GRCm39) C442F probably damaging Het
Dnah7a T C 1: 53,674,503 (GRCm39) S425G probably benign Het
Espn C T 4: 152,212,582 (GRCm39) V752M probably damaging Het
Glyr1 A G 16: 4,854,297 (GRCm39) S113P possibly damaging Het
Grk4 A T 5: 34,902,612 (GRCm39) Y388F probably benign Het
H2-T15 C T 17: 36,366,936 (GRCm39) C369Y probably benign Het
Heca C A 10: 17,778,044 (GRCm39) V518F probably damaging Het
Hmcn2 C T 2: 31,236,629 (GRCm39) P391S possibly damaging Het
Hnrnpl A G 7: 28,510,529 (GRCm39) probably benign Het
Hsd3b2 A G 3: 98,619,208 (GRCm39) S246P possibly damaging Het
Ifna11 C T 4: 88,738,380 (GRCm39) P62L probably damaging Het
Katnal2 A T 18: 77,090,131 (GRCm39) V292D probably damaging Het
Krt16 T A 11: 100,137,593 (GRCm39) I371F probably damaging Het
Ly6g2 A T 15: 75,089,669 (GRCm39) E59V probably damaging Het
Map10 A T 8: 126,397,724 (GRCm39) L372F probably damaging Het
Megf10 A T 18: 57,324,219 (GRCm39) M87L probably damaging Het
Ncoa6 T C 2: 155,249,701 (GRCm39) H1201R possibly damaging Het
Ndc80 C A 17: 71,821,226 (GRCm39) D241Y probably damaging Het
Ndufs1 T C 1: 63,205,508 (GRCm39) M94V possibly damaging Het
Nkx2-6 G T 14: 69,412,195 (GRCm39) R121L probably damaging Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Or6a2 A G 7: 106,600,842 (GRCm39) V75A probably damaging Het
Panx2 C A 15: 88,953,135 (GRCm39) P542H possibly damaging Het
Pcdha5 C A 18: 37,095,510 (GRCm39) P673Q probably benign Het
Pon1 A G 6: 5,185,314 (GRCm39) L62P probably damaging Het
Prdx6 A T 1: 161,071,860 (GRCm39) I102N probably damaging Het
Prkd3 T A 17: 79,262,140 (GRCm39) I725F possibly damaging Het
Selenon T C 4: 134,269,749 (GRCm39) N395S probably benign Het
Serpinb8 G A 1: 107,533,616 (GRCm39) E224K probably benign Het
Serpinb9b A G 13: 33,213,496 (GRCm39) M18V probably benign Het
Smc6 A G 12: 11,335,400 (GRCm39) E318G possibly damaging Het
Srrt A T 5: 137,294,549 (GRCm39) Y786N probably damaging Het
Stk36 G T 1: 74,644,615 (GRCm39) probably null Het
Stpg1 T A 4: 135,252,786 (GRCm39) L179Q possibly damaging Het
Stra8 G A 6: 34,907,885 (GRCm39) M1I probably null Het
Tiam1 G T 16: 89,681,753 (GRCm39) H408Q possibly damaging Het
Tm2d1 G A 4: 98,253,855 (GRCm39) T106I probably damaging Het
Tmem150b A C 7: 4,719,368 (GRCm39) I184S probably null Het
Vmn1r216 A G 13: 23,284,081 (GRCm39) I255V probably benign Het
Vps13b G A 15: 35,533,531 (GRCm39) A868T probably damaging Het
Wdr81 C T 11: 75,341,620 (GRCm39) D1216N probably null Het
Zfp26 T C 9: 20,349,535 (GRCm39) Y343C possibly damaging Het
Zfp276 A T 8: 123,982,520 (GRCm39) I95F probably damaging Het
Zfp330 T C 8: 83,490,865 (GRCm39) E315G probably benign Het
Zfp683 C A 4: 133,781,862 (GRCm39) P56Q probably damaging Het
Zpld1 T A 16: 55,052,646 (GRCm39) S323C possibly damaging Het
Other mutations in Otop1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01555:Otop1 APN 5 38,460,188 (GRCm39) missense probably damaging 1.00
IGL01793:Otop1 APN 5 38,457,215 (GRCm39) missense possibly damaging 0.89
IGL02071:Otop1 APN 5 38,445,327 (GRCm39) missense probably damaging 1.00
IGL02111:Otop1 APN 5 38,435,045 (GRCm39) missense probably benign 0.01
IGL02660:Otop1 APN 5 38,445,349 (GRCm39) missense probably damaging 0.99
IGL02672:Otop1 APN 5 38,435,170 (GRCm39) critical splice donor site probably null
IGL03164:Otop1 APN 5 38,445,306 (GRCm39) nonsense probably null
BB008:Otop1 UTSW 5 38,445,364 (GRCm39) missense probably damaging 1.00
BB018:Otop1 UTSW 5 38,445,364 (GRCm39) missense probably damaging 1.00
P0015:Otop1 UTSW 5 38,451,903 (GRCm39) splice site probably benign
R0092:Otop1 UTSW 5 38,457,174 (GRCm39) missense probably damaging 0.97
R0639:Otop1 UTSW 5 38,445,292 (GRCm39) missense possibly damaging 0.77
R0670:Otop1 UTSW 5 38,445,292 (GRCm39) missense possibly damaging 0.77
R0673:Otop1 UTSW 5 38,445,292 (GRCm39) missense possibly damaging 0.77
R2092:Otop1 UTSW 5 38,457,110 (GRCm39) missense probably damaging 1.00
R2105:Otop1 UTSW 5 38,457,801 (GRCm39) missense probably benign
R2152:Otop1 UTSW 5 38,460,194 (GRCm39) missense probably damaging 1.00
R3971:Otop1 UTSW 5 38,457,533 (GRCm39) missense probably benign 0.04
R3972:Otop1 UTSW 5 38,457,533 (GRCm39) missense probably benign 0.04
R4575:Otop1 UTSW 5 38,457,065 (GRCm39) missense probably damaging 1.00
R4660:Otop1 UTSW 5 38,457,368 (GRCm39) missense possibly damaging 0.95
R4998:Otop1 UTSW 5 38,451,892 (GRCm39) critical splice donor site probably null
R5461:Otop1 UTSW 5 38,457,059 (GRCm39) missense probably damaging 1.00
R5607:Otop1 UTSW 5 38,451,848 (GRCm39) missense possibly damaging 0.68
R5625:Otop1 UTSW 5 38,460,104 (GRCm39) missense probably damaging 1.00
R5677:Otop1 UTSW 5 38,457,507 (GRCm39) missense probably damaging 1.00
R5792:Otop1 UTSW 5 38,455,260 (GRCm39) missense probably benign 0.04
R5878:Otop1 UTSW 5 38,435,166 (GRCm39) missense possibly damaging 0.73
R6163:Otop1 UTSW 5 38,445,234 (GRCm39) splice site probably null
R7338:Otop1 UTSW 5 38,457,547 (GRCm39) nonsense probably null
R7931:Otop1 UTSW 5 38,445,364 (GRCm39) missense probably damaging 1.00
R7994:Otop1 UTSW 5 38,457,195 (GRCm39) missense probably benign 0.02
R8224:Otop1 UTSW 5 38,457,846 (GRCm39) missense possibly damaging 0.79
R8733:Otop1 UTSW 5 38,457,796 (GRCm39) nonsense probably null
R8733:Otop1 UTSW 5 38,457,117 (GRCm39) missense probably damaging 1.00
R8987:Otop1 UTSW 5 38,457,071 (GRCm39) missense probably damaging 1.00
R9192:Otop1 UTSW 5 38,445,274 (GRCm39) missense probably benign 0.25
R9278:Otop1 UTSW 5 38,460,158 (GRCm39) missense probably damaging 1.00
R9290:Otop1 UTSW 5 38,455,302 (GRCm39) missense probably benign 0.06
X0064:Otop1 UTSW 5 38,457,095 (GRCm39) missense probably damaging 1.00
Z1177:Otop1 UTSW 5 38,435,114 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CGTGAGATGTCTCTGTCTTACC -3'
(R):5'- GCTGTGAGAGACAAGACACC -3'

Sequencing Primer
(F):5'- GGCTTCACACTTTCCCAGGG -3'
(R):5'- CCCAAATGATAACTCTAGGCTGC -3'
Posted On 2016-09-01