Incidental Mutation 'R7338:Otop1'
ID 569639
Institutional Source Beutler Lab
Gene Symbol Otop1
Ensembl Gene ENSMUSG00000051596
Gene Name otopetrin 1
Synonyms tlt, A530025J20Rik
MMRRC Submission 045428-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R7338 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 38434748-38461560 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 38457547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 435 (Y435*)
Ref Sequence ENSEMBL: ENSMUSP00000109734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063136] [ENSMUST00000114099]
AlphaFold Q80VM9
Predicted Effect probably null
Transcript: ENSMUST00000063136
AA Change: Y432*
SMART Domains Protein: ENSMUSP00000061805
Gene: ENSMUSG00000051596
AA Change: Y432*

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 null
Transcript: ENSMUST00000114099
AA Change: Y435*
SMART Domains Protein: ENSMUSP00000109734
Gene: ENSMUSG00000051596
AA Change: Y435*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (54/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,595,717 (GRCm39) S357P possibly damaging Het
Arhgap28 T C 17: 68,203,106 (GRCm39) R166G probably damaging Het
Bcan T A 3: 87,901,550 (GRCm39) E384V probably damaging Het
Bcl9l A G 9: 44,420,005 (GRCm39) N1137S probably benign Het
Caprin1 A G 2: 103,609,768 (GRCm39) L170S probably benign Het
Card6 C T 15: 5,129,354 (GRCm39) E681K probably benign Het
Catsperb G A 12: 101,447,243 (GRCm39) V248I probably benign Het
Ccnj T A 19: 40,825,477 (GRCm39) H62Q probably damaging Het
Cd180 A C 13: 102,842,936 (GRCm39) I661L probably benign Het
Cdk11b A G 4: 155,732,008 (GRCm39) R473G unknown Het
Cep126 T C 9: 8,099,799 (GRCm39) T912A possibly damaging Het
Chek2 T A 5: 111,021,380 (GRCm39) V530E probably benign Het
Chga G T 12: 102,529,100 (GRCm39) S359I probably damaging Het
Cnrip1 T C 11: 17,004,657 (GRCm39) V69A probably damaging Het
Cyp2a5 A T 7: 26,542,372 (GRCm39) Q458L probably damaging Het
Cyp2j11 T A 4: 96,195,524 (GRCm39) T391S possibly damaging Het
Dhx16 T C 17: 36,199,036 (GRCm39) L794P probably damaging Het
Dscaml1 A G 9: 45,585,802 (GRCm39) T580A probably benign Het
Elmo1 A T 13: 20,464,982 (GRCm39) I184L probably benign Het
Gabra1 C T 11: 42,073,121 (GRCm39) G51S unknown Het
Gabrr3 C A 16: 59,268,439 (GRCm39) L351I possibly damaging Het
Gbp7 A T 3: 142,243,786 (GRCm39) N111I probably damaging Het
Gjd2 C T 2: 113,841,583 (GRCm39) R298H probably damaging Het
Gm5930 T C 14: 44,573,914 (GRCm39) Y141C probably damaging Het
Grin3a G T 4: 49,771,238 (GRCm39) N511K probably benign Het
Hdac7 T C 15: 97,707,903 (GRCm39) D122G probably benign Het
Ifi204 G A 1: 173,587,703 (GRCm39) T152I possibly damaging Het
Lrrc9 C T 12: 72,510,305 (GRCm39) probably null Het
Med21 T A 6: 146,544,082 (GRCm39) probably benign Het
Mmp19 A T 10: 128,634,952 (GRCm39) T523S probably benign Het
Nav3 G A 10: 109,605,073 (GRCm39) T1000I probably benign Het
Nherf2 T A 17: 24,869,182 (GRCm39) probably benign Het
Nin T C 12: 70,090,838 (GRCm39) D859G Het
Nip7 T G 8: 107,783,916 (GRCm39) L52R possibly damaging Het
Or10d1c A G 9: 38,893,816 (GRCm39) Y175H probably damaging Het
Or5al5 A T 2: 85,961,726 (GRCm39) F94I probably damaging Het
Or6b13 A T 7: 139,782,446 (GRCm39) V79E probably benign Het
Pak4 A G 7: 28,264,381 (GRCm39) S174P probably benign Het
Pcsk7 G A 9: 45,837,287 (GRCm39) R537Q probably benign Het
Podxl G A 6: 31,505,941 (GRCm39) S34F unknown Het
Prr36 G A 8: 4,266,212 (GRCm39) R113C probably damaging Het
Ptk7 T C 17: 46,890,525 (GRCm39) I436V probably benign Het
Slc13a5 C T 11: 72,157,310 (GRCm39) V28I probably benign Het
Slco6d1 A T 1: 98,349,097 (GRCm39) D56V probably benign Het
Spg11 G A 2: 121,885,858 (GRCm39) R2317W probably damaging Het
Stom T A 2: 35,213,760 (GRCm39) probably null Het
Svs5 T C 2: 164,174,728 (GRCm39) L8P possibly damaging Het
Tmem141 C A 2: 25,511,626 (GRCm39) V39F probably damaging Het
Tmprss6 A G 15: 78,344,019 (GRCm39) L181P probably damaging Het
Tnni3 A G 7: 4,524,379 (GRCm39) S40P probably benign Het
Tubgcp4 A G 2: 121,024,465 (GRCm39) I548V probably benign Het
Twf2 A G 9: 106,081,138 (GRCm39) probably benign Het
Wnt5b C A 6: 119,425,092 (GRCm39) probably null Het
Wrap73 A G 4: 154,237,043 (GRCm39) D210G probably benign Het
Yipf4 T G 17: 74,796,771 (GRCm39) S21A probably benign Het
Zscan20 A G 4: 128,481,943 (GRCm39) M573T probably benign 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
R5412:Otop1 UTSW 5 38,455,328 (GRCm39) missense probably benign 0.25
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
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'- GTCGGAAGCTGGATTTACAGGG -3'
(R):5'- TGCTGCAGACACAGATTTCC -3'

Sequencing Primer
(F):5'- AGTCTCTGGATGAGTCAAAGAACCC -3'
(R):5'- TTCCATTGACAGCAGGTGAC -3'
Posted On 2019-09-13