Incidental Mutation 'R7215:Otoa'
ID 568667
Institutional Source Beutler Lab
Gene Symbol Otoa
Ensembl Gene ENSMUSG00000034990
Gene Name otoancorin
Synonyms
MMRRC Submission 045287-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7215 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 120682647-120762316 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120717795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 19 (V19A)
Ref Sequence ENSEMBL: ENSMUSP00000146799 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047025] [ENSMUST00000163275]
AlphaFold Q8K561
Predicted Effect silent
Transcript: ENSMUST00000047025
SMART Domains Protein: ENSMUSP00000044177
Gene: ENSMUSG00000034990

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 896 908 N/A INTRINSIC
low complexity region 1072 1089 N/A INTRINSIC
low complexity region 1124 1133 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000163275
AA Change: V19A
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (79/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is specifically expressed in the inner ear, and is located at the interface between the apical surface of the inner ear sensory epithelia and their overlying acellular gels. It is prposed that this protein is involved in the attachment of the inner ear acellular gels to the apical surface of the underlying nonsensory cells. Mutations in this gene are associated with autosomal recessive deafness type 22 (DFNB22). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hearing loss, detachment of the tectorial membrane from the spiral limbus, abnormal tectorial membrane morphology, absence of Hensen's stripe and increased cochlear nerve coumpond action potential threshold. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik G A 13: 77,471,690 (GRCm39) V1032M possibly damaging Het
Abca13 T A 11: 9,238,405 (GRCm39) probably null Het
Adamts14 T A 10: 61,047,375 (GRCm39) H739L possibly damaging Het
Adgrl3 A G 5: 81,841,397 (GRCm39) E758G probably damaging Het
Ano3 T A 2: 110,496,277 (GRCm39) T826S probably damaging Het
Arhgap45 C T 10: 79,861,316 (GRCm39) T493I possibly damaging Het
Atg9b A C 5: 24,593,039 (GRCm39) W455G probably damaging Het
Atp4a A G 7: 30,416,785 (GRCm39) N496S possibly damaging Het
Bckdk T A 7: 127,504,282 (GRCm39) D60E possibly damaging Het
Blmh A T 11: 76,856,725 (GRCm39) K244* probably null Het
Btbd17 T C 11: 114,682,291 (GRCm39) I474V possibly damaging Het
C87436 A G 6: 86,439,662 (GRCm39) E451G possibly damaging Het
Camta1 T C 4: 151,229,194 (GRCm39) E546G probably damaging Het
Casp1 A G 9: 5,298,523 (GRCm39) probably null Het
Ccdc116 A G 16: 16,957,792 (GRCm39) Y456H probably damaging Het
Cep350 A C 1: 155,770,453 (GRCm39) S1812R possibly damaging Het
Chrna10 A G 7: 101,761,415 (GRCm39) L392P possibly damaging Het
Col22a1 A T 15: 71,842,181 (GRCm39) C434* probably null Het
Cxcl9 G A 5: 92,471,747 (GRCm39) Q98* probably null Het
Cyp2c54 G A 19: 40,034,626 (GRCm39) T348I probably damaging Het
Dnah7a G A 1: 53,657,509 (GRCm39) R756C probably damaging Het
Dnajc18 T C 18: 35,815,034 (GRCm39) T239A probably benign Het
Dnase2a A T 8: 85,636,399 (GRCm39) probably null Het
Dpyd A G 3: 119,059,681 (GRCm39) T793A probably benign Het
Edil3 T C 13: 88,970,169 (GRCm39) probably null Het
Ehd1 T A 19: 6,347,672 (GRCm39) I342N possibly damaging Het
Erbb4 A T 1: 68,378,619 (GRCm39) S341T probably benign Het
Ezh1 T A 11: 101,106,125 (GRCm39) T87S probably benign Het
Fam20b A T 1: 156,518,123 (GRCm39) W224R probably damaging Het
Galns A T 8: 123,326,087 (GRCm39) probably null Het
Gm13283 C T 4: 88,678,967 (GRCm39) probably benign Het
Gm49342 A T 14: 51,182,040 (GRCm39) M23L probably benign Het
Gm5114 T A 7: 39,060,795 (GRCm39) H18L probably benign Het
Gpr89 A G 3: 96,787,404 (GRCm39) W299R probably damaging Het
Hadha G T 5: 30,324,840 (GRCm39) N755K probably benign Het
Inpp5d A T 1: 87,628,940 (GRCm39) H620L probably benign Het
Klk1b3 T A 7: 43,849,828 (GRCm39) probably null Het
Macf1 T C 4: 123,401,097 (GRCm39) T663A probably damaging Het
Man1b1 A G 2: 25,240,402 (GRCm39) N601S probably benign Het
Mbtps1 A G 8: 120,251,307 (GRCm39) V605A possibly damaging Het
Med23 C G 10: 24,764,327 (GRCm39) D311E probably benign Het
Myo3a G T 2: 22,250,378 (GRCm39) D82Y possibly damaging Het
Nsd1 T A 13: 55,395,454 (GRCm39) D1121E probably benign Het
Odad1 C T 7: 45,586,046 (GRCm39) R148C probably damaging Het
Or4c116 G A 2: 88,942,845 (GRCm39) Q4* probably null Het
Or5al1 C T 2: 85,989,800 (GRCm39) V305I probably benign Het
Or8b3b A G 9: 38,584,743 (GRCm39) I12T probably benign Het
Pcdhb20 A T 18: 37,638,439 (GRCm39) T322S probably benign Het
Pecam1 T C 11: 106,586,745 (GRCm39) T257A probably benign Het
Pi16 G T 17: 29,538,072 (GRCm39) probably benign Het
Pik3c2g C T 6: 139,700,589 (GRCm39) T293M Het
Pira13 C T 7: 3,825,310 (GRCm39) C444Y unknown Het
Pkhd1l1 T A 15: 44,391,559 (GRCm39) C1542S possibly damaging Het
Prrc2b G A 2: 32,119,309 (GRCm39) G2172R probably damaging Het
Prrt1 A T 17: 34,848,677 (GRCm39) probably null Het
Ptprb T A 10: 116,174,681 (GRCm39) N784K possibly damaging Het
Rem1 C A 2: 152,470,069 (GRCm39) S18R probably damaging Het
Ripk4 G A 16: 97,548,523 (GRCm39) probably null Het
Scn8a G A 15: 100,927,711 (GRCm39) V1397I possibly damaging Het
Setbp1 T A 18: 78,900,052 (GRCm39) H1205L probably damaging Het
Shmt1 T C 11: 60,692,361 (GRCm39) I132V probably damaging Het
Slc24a1 T A 9: 64,835,785 (GRCm39) T781S unknown Het
Sncaip C T 18: 53,040,415 (GRCm39) Q870* probably null Het
Stab1 A T 14: 30,882,754 (GRCm39) N416K possibly damaging Het
Tcea1 A G 1: 4,937,706 (GRCm39) D26G probably damaging Het
Tcf20 A T 15: 82,737,690 (GRCm39) S1254T probably benign Het
Tead4 T A 6: 128,205,641 (GRCm39) I354F probably damaging Het
Tex36 G A 7: 133,189,147 (GRCm39) R142* probably null Het
Trav6d-3 T A 14: 52,962,799 (GRCm39) L12Q probably damaging Het
Trpc4 A G 3: 54,102,317 (GRCm39) T72A possibly damaging Het
Trrap G A 5: 144,733,945 (GRCm39) A933T probably benign Het
Tspoap1 T A 11: 87,661,315 (GRCm39) I589N probably benign Het
Ttll5 T A 12: 85,980,170 (GRCm39) V918E probably benign Het
Tut4 T C 4: 108,384,205 (GRCm39) Y1091H probably damaging Het
Txn2 A G 15: 77,811,886 (GRCm39) probably null Het
Ucn3 T G 13: 3,991,365 (GRCm39) T96P probably benign Het
Usp36 T C 11: 118,155,980 (GRCm39) E764G possibly damaging Het
Vmn2r23 A T 6: 123,681,323 (GRCm39) H77L probably benign Het
Vmn2r57 T C 7: 41,049,710 (GRCm39) T680A probably benign Het
Vwa3a T C 7: 120,394,853 (GRCm39) I891T possibly damaging Het
Zfp764l1 A G 7: 126,990,695 (GRCm39) S431P probably benign Het
Zhx2 A G 15: 57,687,039 (GRCm39) I803V probably benign Het
Other mutations in Otoa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01469:Otoa APN 7 120,754,496 (GRCm39) critical splice donor site probably null
IGL01791:Otoa APN 7 120,755,072 (GRCm39) missense probably benign 0.25
IGL01924:Otoa APN 7 120,705,191 (GRCm39) missense probably damaging 0.99
IGL01953:Otoa APN 7 120,759,548 (GRCm39) splice site probably null
IGL02121:Otoa APN 7 120,721,247 (GRCm39) missense probably benign 0.06
IGL02303:Otoa APN 7 120,732,147 (GRCm39) critical splice donor site probably null
IGL02390:Otoa APN 7 120,730,590 (GRCm39) missense possibly damaging 0.84
IGL02591:Otoa APN 7 120,755,053 (GRCm39) missense probably damaging 1.00
IGL02811:Otoa APN 7 120,717,878 (GRCm39) missense possibly damaging 0.60
IGL02878:Otoa APN 7 120,743,076 (GRCm39) missense probably damaging 1.00
IGL03328:Otoa APN 7 120,710,217 (GRCm39) missense probably damaging 0.98
R0056:Otoa UTSW 7 120,730,570 (GRCm39) missense probably benign 0.00
R0279:Otoa UTSW 7 120,710,302 (GRCm39) splice site probably benign
R0390:Otoa UTSW 7 120,730,564 (GRCm39) missense probably benign 0.07
R0411:Otoa UTSW 7 120,755,750 (GRCm39) critical splice donor site probably null
R0628:Otoa UTSW 7 120,744,873 (GRCm39) splice site probably benign
R1113:Otoa UTSW 7 120,724,666 (GRCm39) nonsense probably null
R1240:Otoa UTSW 7 120,755,713 (GRCm39) missense probably benign
R1308:Otoa UTSW 7 120,724,666 (GRCm39) nonsense probably null
R1692:Otoa UTSW 7 120,690,774 (GRCm39) missense probably damaging 0.99
R1728:Otoa UTSW 7 120,724,662 (GRCm39) missense probably benign 0.36
R1729:Otoa UTSW 7 120,724,662 (GRCm39) missense probably benign 0.36
R1744:Otoa UTSW 7 120,726,999 (GRCm39) splice site probably benign
R1759:Otoa UTSW 7 120,733,326 (GRCm39) missense probably damaging 1.00
R1784:Otoa UTSW 7 120,724,662 (GRCm39) missense probably benign 0.36
R1817:Otoa UTSW 7 120,759,753 (GRCm39) utr 3 prime probably benign
R1961:Otoa UTSW 7 120,717,792 (GRCm39) missense probably benign 0.05
R2061:Otoa UTSW 7 120,730,551 (GRCm39) missense probably damaging 1.00
R2509:Otoa UTSW 7 120,759,695 (GRCm39) missense probably benign
R2510:Otoa UTSW 7 120,759,695 (GRCm39) missense probably benign
R3411:Otoa UTSW 7 120,721,266 (GRCm39) missense probably damaging 1.00
R3438:Otoa UTSW 7 120,759,566 (GRCm39) missense possibly damaging 0.80
R3905:Otoa UTSW 7 120,724,788 (GRCm39) missense probably damaging 1.00
R3907:Otoa UTSW 7 120,724,788 (GRCm39) missense probably damaging 1.00
R4613:Otoa UTSW 7 120,744,791 (GRCm39) missense probably damaging 1.00
R4751:Otoa UTSW 7 120,732,147 (GRCm39) critical splice donor site probably benign
R4896:Otoa UTSW 7 120,701,902 (GRCm39) missense probably damaging 1.00
R4932:Otoa UTSW 7 120,754,358 (GRCm39) missense probably damaging 0.98
R5224:Otoa UTSW 7 120,739,016 (GRCm39) missense probably damaging 0.98
R5235:Otoa UTSW 7 120,755,693 (GRCm39) missense probably damaging 1.00
R5595:Otoa UTSW 7 120,721,200 (GRCm39) missense probably damaging 1.00
R5891:Otoa UTSW 7 120,731,583 (GRCm39) splice site probably null
R5894:Otoa UTSW 7 120,721,092 (GRCm39) missense probably damaging 1.00
R5905:Otoa UTSW 7 120,693,824 (GRCm39) missense probably damaging 1.00
R5976:Otoa UTSW 7 120,726,936 (GRCm39) missense probably benign 0.00
R6464:Otoa UTSW 7 120,701,828 (GRCm39) missense probably damaging 1.00
R6761:Otoa UTSW 7 120,721,173 (GRCm39) missense probably damaging 1.00
R6770:Otoa UTSW 7 120,744,837 (GRCm39) missense probably benign 0.25
R6821:Otoa UTSW 7 120,692,070 (GRCm39) critical splice donor site probably null
R6924:Otoa UTSW 7 120,730,724 (GRCm39) splice site probably null
R7016:Otoa UTSW 7 120,746,989 (GRCm39) missense probably damaging 0.99
R7313:Otoa UTSW 7 120,701,765 (GRCm39) missense probably benign 0.42
R7340:Otoa UTSW 7 120,729,288 (GRCm39) missense probably benign 0.38
R7443:Otoa UTSW 7 120,731,633 (GRCm39) missense probably benign 0.00
R7559:Otoa UTSW 7 120,743,149 (GRCm39) missense probably damaging 0.99
R7640:Otoa UTSW 7 120,744,849 (GRCm39) missense probably damaging 1.00
R7654:Otoa UTSW 7 120,746,923 (GRCm39) missense probably damaging 1.00
R7659:Otoa UTSW 7 120,733,267 (GRCm39) missense probably benign 0.01
R8421:Otoa UTSW 7 120,698,491 (GRCm39) critical splice donor site probably null
R8799:Otoa UTSW 7 120,691,894 (GRCm39) missense possibly damaging 0.56
R8954:Otoa UTSW 7 120,744,741 (GRCm39) nonsense probably null
R9099:Otoa UTSW 7 120,739,055 (GRCm39) missense probably benign
R9126:Otoa UTSW 7 120,693,845 (GRCm39) missense probably damaging 1.00
R9369:Otoa UTSW 7 120,744,840 (GRCm39) missense probably benign 0.23
U24488:Otoa UTSW 7 120,717,763 (GRCm39) critical splice acceptor site probably null
X0023:Otoa UTSW 7 120,717,794 (GRCm39) missense probably benign 0.00
Z1177:Otoa UTSW 7 120,717,878 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGCTGATGATCCAGGTAGGTG -3'
(R):5'- AACACACCCATGTTTTGTCTACAC -3'

Sequencing Primer
(F):5'- ATCCAGGTAGGTGGTGCAG -3'
(R):5'- CATCTGCCAGGATTGAAGTGC -3'
Posted On 2019-09-06