Incidental Mutation 'P0015:Otop1'
ID7563
Institutional Source Beutler Lab
Gene Symbol Otop1
Ensembl Gene ENSMUSG00000051596
Gene Nameotopetrin 1
Synonymstlt, A530025J20Rik
MMRRC Submission 038268-MU
Accession Numbers

NCBI RefSeq: NM_172709.3; MGI:2388363

Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #P0015 (G1)
Quality Score
Status Validated
Chromosome5
Chromosomal Location38275972-38304217 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 38294559 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063136] [ENSMUST00000114099]
Predicted Effect probably benign
Transcript: ENSMUST00000063136
SMART Domains Protein: ENSMUSP00000061805
Gene: ENSMUSG00000051596

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
SMART Domains Protein: ENSMUSP00000109734
Gene: ENSMUSG00000051596

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: 83.8%
  • 3x: 77.7%
  • 10x: 59.1%
  • 20x: 39.9%
Validation Efficiency 82% (537/655)
MGI Phenotype Strain: 4881519; 2655558; 1856638; 4950042
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: 5 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Fam151b C T 13: 92,467,944 probably null Het
Fam198b T C 3: 79,936,608 L14S probably damaging Het
Lrp1 A T 10: 127,566,663 I2213N probably damaging Het
Tnfsf14 T C 17: 57,190,815 Y139C probably damaging Het
Zfp143 A G 7: 110,086,111 probably null Het
Other mutations in Otop1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01555:Otop1 APN 5 38302845 missense probably damaging 1.00
IGL01793:Otop1 APN 5 38299871 missense possibly damaging 0.89
IGL02071:Otop1 APN 5 38287983 missense probably damaging 1.00
IGL02111:Otop1 APN 5 38277701 missense probably benign 0.01
IGL02660:Otop1 APN 5 38288005 missense probably damaging 0.99
IGL02672:Otop1 APN 5 38277826 critical splice donor site probably null
IGL03164:Otop1 APN 5 38287962 nonsense probably null
R0092:Otop1 UTSW 5 38299830 missense probably damaging 0.97
R0639:Otop1 UTSW 5 38287948 missense possibly damaging 0.77
R0670:Otop1 UTSW 5 38287948 missense possibly damaging 0.77
R0673:Otop1 UTSW 5 38287948 missense possibly damaging 0.77
R2092:Otop1 UTSW 5 38299766 missense probably damaging 1.00
R2105:Otop1 UTSW 5 38300458 missense probably benign
R2152:Otop1 UTSW 5 38302851 missense probably damaging 1.00
R3971:Otop1 UTSW 5 38300189 missense probably benign 0.04
R3972:Otop1 UTSW 5 38300189 missense probably benign 0.04
R4575:Otop1 UTSW 5 38299721 missense probably damaging 1.00
R4660:Otop1 UTSW 5 38300024 missense possibly damaging 0.95
R4998:Otop1 UTSW 5 38294548 critical splice donor site probably null
R5412:Otop1 UTSW 5 38297984 missense probably benign 0.25
R5461:Otop1 UTSW 5 38299715 missense probably damaging 1.00
R5607:Otop1 UTSW 5 38294504 missense possibly damaging 0.68
R5625:Otop1 UTSW 5 38302761 missense probably damaging 1.00
R5677:Otop1 UTSW 5 38300163 missense probably damaging 1.00
R5792:Otop1 UTSW 5 38297916 missense probably benign 0.04
R5878:Otop1 UTSW 5 38277822 missense possibly damaging 0.73
R6163:Otop1 UTSW 5 38287890 splice site probably null
R7338:Otop1 UTSW 5 38300203 nonsense probably null
X0064:Otop1 UTSW 5 38299751 missense probably damaging 1.00
Z1177:Otop1 UTSW 5 38277770 nonsense probably null
Protein Function and Prediction

Otop1 is a multitransmembrane protein that is predicted to be essential  to the membrane vesicles that are released into the gelatinous membrane within the utricle and saccule of the inner ear, which may foster lattice crystal formation, an essential process for an organism to have the correct perception of gravity and linear acceleration (1).

Expression/Localization

Otop1 is expressed in the macula of the developing otocyst of the inner ear as well as in thymus, heart, kidney, skin, stomach, adrenal gland, and lactating mammary gland (1).

Background

Otop1ied/ied; MGI:4881519

involves: C3HeB/FeJ * C57BL/6

Homozygous animals have an impaired righting response, coordination, swimming as well as abnormal posture, absent otoliths, and head tilt (2).

 

Otop1mlh/mlh; MGI:2655558

involves: BALB/cJ

Homozygous animals shake when picked up by the tail, are unable to swim, the otoliths are absent, and they exhibit head tilt (1).

 

Otop1tlt/tlt; MGI:1856638

B6.Cg-Otop1tlt/J

Homozygous animals have impaired swimming (3;4), head tilt (3), absence of otoconia (3;4), and reduced levels of vestibular ganglion (5).

 

Otop1tm1Dor/tm1Dor; MGI:4950042

Not specified

The otoliths are absent in the homozygotes and the mice exhibit impaired swimming due to vestibular dysfunction (6).

References
Posted On2012-10-04
Science WriterAnne Murray