Incidental Mutation 'PIT4472001:Otog'
ID 555862
Institutional Source Beutler Lab
Gene Symbol Otog
Ensembl Gene ENSMUSG00000009487
Gene Name otogelin
Synonyms Otgn
Accession Numbers
Essential gene? Probably essential (E-score: 0.770) question?
Stock # PIT4472001 (G1)
Quality Score 218.009
Status Not validated
Chromosome 7
Chromosomal Location 45890411-45960858 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 45945273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 2177 (V2177M)
Ref Sequence ENSEMBL: ENSMUSP00000130949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164538] [ENSMUST00000209802]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000164538
AA Change: V2177M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130949
Gene: ENSMUSG00000009487
AA Change: V2177M

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 72 85 N/A INTRINSIC
VWD 128 288 7.98e-45 SMART
C8 330 404 1.05e-13 SMART
VWC 463 505 1.24e0 SMART
VWD 490 655 4.94e-50 SMART
C8 693 758 1.23e-5 SMART
Pfam:TIL 767 831 3.4e-13 PFAM
VWC 935 983 1.83e0 SMART
VWD 962 1118 6.05e-45 SMART
C8 1153 1227 1.02e-34 SMART
Pfam:AbfB 1270 1384 7.5e-10 PFAM
low complexity region 1488 1513 N/A INTRINSIC
low complexity region 1524 1536 N/A INTRINSIC
low complexity region 1560 1578 N/A INTRINSIC
low complexity region 1637 1644 N/A INTRINSIC
low complexity region 1677 1696 N/A INTRINSIC
low complexity region 1731 1748 N/A INTRINSIC
VWD 2087 2251 2.37e-29 SMART
C8 2287 2356 4.93e-19 SMART
low complexity region 2443 2449 N/A INTRINSIC
CT 2828 2911 3.46e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000209802
Coding Region Coverage
  • 1x: 93.7%
  • 3x: 90.8%
  • 10x: 84.2%
  • 20x: 70.1%
Validation Efficiency
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 a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygotes for a number of different spontaneous and targeted mutations exhibit vestibular dysfunction, including circling, head tilt, impaired balance, coordination, and placing response. Mutants have impaired hearing, decreased brain stem auditory evoked potential, and ear abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt C A 9: 99,502,613 (GRCm39) P258T probably damaging Het
Arvcf T C 16: 18,221,699 (GRCm39) V714A possibly damaging Het
Bcas3 A G 11: 85,422,726 (GRCm39) I532V probably damaging Het
Cbr1 T A 16: 93,406,692 (GRCm39) V136E probably damaging Het
Ccdc27 T C 4: 154,126,184 (GRCm39) M102V unknown Het
Ccr1 T C 9: 123,763,765 (GRCm39) Y255C probably damaging Het
Cd300e T A 11: 114,945,336 (GRCm39) I153F possibly damaging Het
Chd7 C T 4: 8,753,101 (GRCm39) L533F unknown Het
Cpvl A T 6: 53,873,464 (GRCm39) F424Y possibly damaging Het
Cxcl16 C T 11: 70,349,625 (GRCm39) G80R probably damaging Het
Cyp2g1 T C 7: 26,513,619 (GRCm39) V186A probably benign Het
Cyp4f15 T A 17: 32,921,798 (GRCm39) M490K probably damaging Het
D630045J12Rik A T 6: 38,155,774 (GRCm39) V1160D probably damaging Het
Dennd2b G A 7: 109,130,337 (GRCm39) A888V probably damaging Het
Fbn1 T C 2: 125,148,421 (GRCm39) D2609G possibly damaging Het
Fgf5 T A 5: 98,409,838 (GRCm39) V129E probably damaging Het
Fhl5 C A 4: 25,211,194 (GRCm39) C166F probably damaging Het
Frem1 G A 4: 82,890,374 (GRCm39) T1035I probably benign Het
Gcnt2 G A 13: 41,071,413 (GRCm39) V19M probably benign Het
Gga1 C A 15: 78,777,836 (GRCm39) A595D probably damaging Het
Gpaa1 C T 15: 76,218,940 (GRCm39) T594I probably benign Het
Gskip C T 12: 105,651,121 (GRCm39) probably benign Het
Ighv1-72 A G 12: 115,721,620 (GRCm39) V112A probably damaging Het
Krt16 T A 11: 100,138,732 (GRCm39) T185S probably benign Het
Lama1 T C 17: 68,071,699 (GRCm39) V862A Het
Lats2 A C 14: 57,936,814 (GRCm39) Y558* probably null Het
Mast4 G A 13: 102,941,226 (GRCm39) T277M probably damaging Het
Mnx1 T C 5: 29,679,105 (GRCm39) E326G unknown Het
Mtmr10 A G 7: 63,983,106 (GRCm39) E471G probably benign Het
Or5p64 C T 7: 107,855,310 (GRCm39) V12M possibly damaging Het
Ovgp1 A G 3: 105,894,306 (GRCm39) E693G unknown Het
Pclo T C 5: 14,763,182 (GRCm39) M600T possibly damaging Het
Pdgfra T A 5: 75,340,907 (GRCm39) M622K probably damaging Het
Pdxdc1 A G 16: 13,663,209 (GRCm39) L428P probably damaging Het
Pfkfb4 T C 9: 108,828,222 (GRCm39) Y86H probably benign Het
Pik3cg A G 12: 32,254,983 (GRCm39) Y335H probably damaging Het
Podnl1 G A 8: 84,854,477 (GRCm39) V150M Het
Pou4f3 A G 18: 42,527,717 (GRCm39) M4V probably benign Het
Ppp1r13b G A 12: 111,799,074 (GRCm39) R864C probably damaging Het
R3hdm4 A G 10: 79,749,389 (GRCm39) probably null Het
Skil T A 3: 31,152,381 (GRCm39) V301D probably damaging Het
Sptb G A 12: 76,667,460 (GRCm39) T879M probably damaging Het
Strip1 G A 3: 107,535,486 (GRCm39) A79V probably benign Het
Tpgs2 G A 18: 25,301,652 (GRCm39) T5M possibly damaging Het
Trim34a T A 7: 103,897,155 (GRCm39) L73Q probably damaging Het
Trpv4 T A 5: 114,764,984 (GRCm39) T677S probably damaging Het
Vmn2r23 A G 6: 123,689,936 (GRCm39) T271A possibly damaging Het
Other mutations in Otog
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Otog APN 7 45,900,706 (GRCm39) missense probably damaging 1.00
IGL00725:Otog APN 7 45,923,516 (GRCm39) missense probably damaging 1.00
IGL00757:Otog APN 7 45,939,552 (GRCm39) missense probably damaging 1.00
IGL00822:Otog APN 7 45,945,304 (GRCm39) missense probably benign 0.24
IGL01354:Otog APN 7 45,939,150 (GRCm39) missense probably damaging 1.00
IGL01567:Otog APN 7 45,926,039 (GRCm39) splice site probably benign
IGL02034:Otog APN 7 45,945,417 (GRCm39) nonsense probably null
IGL02090:Otog APN 7 45,949,571 (GRCm39) missense probably damaging 1.00
IGL02132:Otog APN 7 45,954,903 (GRCm39) missense probably damaging 0.99
IGL02148:Otog APN 7 45,950,011 (GRCm39) missense probably damaging 1.00
IGL02173:Otog APN 7 45,926,165 (GRCm39) splice site probably benign
IGL02199:Otog APN 7 45,926,775 (GRCm39) missense possibly damaging 0.90
IGL02216:Otog APN 7 45,950,892 (GRCm39) missense probably damaging 1.00
IGL02322:Otog APN 7 45,950,881 (GRCm39) missense probably benign 0.01
IGL02330:Otog APN 7 45,937,493 (GRCm39) missense possibly damaging 0.84
IGL02529:Otog APN 7 45,909,381 (GRCm39) missense probably damaging 0.99
IGL02898:Otog APN 7 45,959,562 (GRCm39) missense probably damaging 1.00
IGL02970:Otog APN 7 45,945,291 (GRCm39) missense probably benign 0.11
IGL03085:Otog APN 7 45,955,346 (GRCm39) critical splice donor site probably null
IGL03108:Otog APN 7 45,900,762 (GRCm39) missense probably damaging 1.00
IGL03275:Otog APN 7 45,955,654 (GRCm39) missense probably damaging 1.00
R0282_Otog_616 UTSW 7 45,926,917 (GRCm39) missense possibly damaging 0.93
R0636_otog_678 UTSW 7 45,913,652 (GRCm39) critical splice donor site probably null
R1029_otog_141 UTSW 7 45,924,019 (GRCm39) missense probably damaging 1.00
BB010:Otog UTSW 7 45,959,571 (GRCm39) missense probably damaging 1.00
BB020:Otog UTSW 7 45,959,571 (GRCm39) missense probably damaging 1.00
I1329:Otog UTSW 7 45,895,927 (GRCm39) missense probably benign 0.02
IGL02984:Otog UTSW 7 45,954,932 (GRCm39) missense probably damaging 0.98
R0032:Otog UTSW 7 45,953,655 (GRCm39) missense probably damaging 0.97
R0032:Otog UTSW 7 45,937,637 (GRCm39) nonsense probably null
R0105:Otog UTSW 7 45,937,790 (GRCm39) missense possibly damaging 0.79
R0164:Otog UTSW 7 45,953,655 (GRCm39) missense probably damaging 0.97
R0164:Otog UTSW 7 45,953,655 (GRCm39) missense probably damaging 0.97
R0165:Otog UTSW 7 45,953,655 (GRCm39) missense probably damaging 0.97
R0166:Otog UTSW 7 45,953,655 (GRCm39) missense probably damaging 0.97
R0167:Otog UTSW 7 45,953,655 (GRCm39) missense probably damaging 0.97
R0240:Otog UTSW 7 45,913,456 (GRCm39) splice site probably null
R0240:Otog UTSW 7 45,913,456 (GRCm39) splice site probably null
R0242:Otog UTSW 7 45,916,805 (GRCm39) missense probably damaging 0.98
R0242:Otog UTSW 7 45,916,805 (GRCm39) missense probably damaging 0.98
R0282:Otog UTSW 7 45,926,917 (GRCm39) missense possibly damaging 0.93
R0392:Otog UTSW 7 45,899,499 (GRCm39) missense probably benign 0.00
R0436:Otog UTSW 7 45,915,360 (GRCm39) splice site probably benign
R0441:Otog UTSW 7 45,955,301 (GRCm39) missense probably damaging 1.00
R0499:Otog UTSW 7 45,923,256 (GRCm39) missense probably damaging 1.00
R0530:Otog UTSW 7 45,947,668 (GRCm39) missense probably damaging 0.98
R0541:Otog UTSW 7 45,918,673 (GRCm39) splice site probably benign
R0600:Otog UTSW 7 45,900,819 (GRCm39) splice site probably benign
R0626:Otog UTSW 7 45,920,797 (GRCm39) missense possibly damaging 0.95
R0636:Otog UTSW 7 45,913,652 (GRCm39) critical splice donor site probably null
R0764:Otog UTSW 7 45,949,918 (GRCm39) missense probably benign 0.00
R0833:Otog UTSW 7 45,918,786 (GRCm39) missense possibly damaging 0.94
R0836:Otog UTSW 7 45,918,786 (GRCm39) missense possibly damaging 0.94
R0844:Otog UTSW 7 45,937,252 (GRCm39) missense possibly damaging 0.53
R1029:Otog UTSW 7 45,924,019 (GRCm39) missense probably damaging 1.00
R1116:Otog UTSW 7 45,950,025 (GRCm39) splice site probably benign
R1134:Otog UTSW 7 45,947,938 (GRCm39) missense probably damaging 1.00
R1183:Otog UTSW 7 45,939,179 (GRCm39) missense probably benign 0.41
R1204:Otog UTSW 7 45,909,335 (GRCm39) missense probably benign 0.16
R1301:Otog UTSW 7 45,939,113 (GRCm39) missense probably damaging 1.00
R1344:Otog UTSW 7 45,924,039 (GRCm39) missense probably damaging 1.00
R1384:Otog UTSW 7 45,923,119 (GRCm39) splice site probably benign
R1418:Otog UTSW 7 45,924,039 (GRCm39) missense probably damaging 1.00
R1432:Otog UTSW 7 45,950,007 (GRCm39) missense probably damaging 1.00
R1479:Otog UTSW 7 45,945,402 (GRCm39) missense possibly damaging 0.75
R1521:Otog UTSW 7 45,908,688 (GRCm39) missense possibly damaging 0.71
R1589:Otog UTSW 7 45,933,332 (GRCm39) missense probably benign 0.18
R1671:Otog UTSW 7 45,911,210 (GRCm39) missense probably damaging 1.00
R1773:Otog UTSW 7 45,937,583 (GRCm39) missense probably benign 0.28
R1806:Otog UTSW 7 45,940,361 (GRCm39) critical splice acceptor site probably null
R1843:Otog UTSW 7 45,895,707 (GRCm39) missense probably damaging 1.00
R1873:Otog UTSW 7 45,918,767 (GRCm39) missense probably damaging 1.00
R1923:Otog UTSW 7 45,895,707 (GRCm39) missense probably damaging 1.00
R1927:Otog UTSW 7 45,895,707 (GRCm39) missense probably damaging 1.00
R2008:Otog UTSW 7 45,913,498 (GRCm39) missense probably benign 0.43
R2048:Otog UTSW 7 45,937,063 (GRCm39) missense probably damaging 1.00
R2131:Otog UTSW 7 45,899,524 (GRCm39) missense probably damaging 1.00
R2153:Otog UTSW 7 45,952,328 (GRCm39) missense probably damaging 1.00
R2240:Otog UTSW 7 45,890,453 (GRCm39) start codon destroyed probably null
R2278:Otog UTSW 7 45,949,468 (GRCm39) missense probably damaging 1.00
R2407:Otog UTSW 7 45,890,964 (GRCm39) missense probably benign 0.10
R2424:Otog UTSW 7 45,947,593 (GRCm39) nonsense probably null
R2513:Otog UTSW 7 45,955,014 (GRCm39) critical splice donor site probably null
R2863:Otog UTSW 7 45,918,730 (GRCm39) missense probably damaging 1.00
R3148:Otog UTSW 7 45,939,593 (GRCm39) missense probably damaging 1.00
R3732:Otog UTSW 7 45,937,792 (GRCm39) missense probably benign 0.03
R3732:Otog UTSW 7 45,937,792 (GRCm39) missense probably benign 0.03
R3733:Otog UTSW 7 45,937,792 (GRCm39) missense probably benign 0.03
R3734:Otog UTSW 7 45,937,792 (GRCm39) missense probably benign 0.03
R3855:Otog UTSW 7 45,923,184 (GRCm39) missense possibly damaging 0.65
R3880:Otog UTSW 7 45,937,445 (GRCm39) missense possibly damaging 0.93
R4081:Otog UTSW 7 45,937,723 (GRCm39) missense possibly damaging 0.92
R4349:Otog UTSW 7 45,923,613 (GRCm39) missense probably damaging 0.99
R4382:Otog UTSW 7 45,939,122 (GRCm39) missense probably damaging 1.00
R4392:Otog UTSW 7 45,934,548 (GRCm39) missense probably damaging 0.98
R4520:Otog UTSW 7 45,890,477 (GRCm39) unclassified probably benign
R4569:Otog UTSW 7 45,959,571 (GRCm39) missense probably damaging 1.00
R4580:Otog UTSW 7 45,937,225 (GRCm39) missense possibly damaging 0.78
R4672:Otog UTSW 7 45,939,210 (GRCm39) missense probably damaging 0.98
R4764:Otog UTSW 7 45,937,943 (GRCm39) missense probably benign 0.29
R4910:Otog UTSW 7 45,947,958 (GRCm39) missense probably damaging 1.00
R4910:Otog UTSW 7 45,913,486 (GRCm39) missense probably damaging 1.00
R4913:Otog UTSW 7 45,913,526 (GRCm39) missense probably benign 0.31
R4975:Otog UTSW 7 45,937,415 (GRCm39) missense probably benign 0.00
R4996:Otog UTSW 7 45,954,934 (GRCm39) nonsense probably null
R4996:Otog UTSW 7 45,948,030 (GRCm39) missense possibly damaging 0.51
R5116:Otog UTSW 7 45,923,191 (GRCm39) missense probably benign 0.34
R5138:Otog UTSW 7 45,899,430 (GRCm39) missense possibly damaging 0.61
R5169:Otog UTSW 7 45,947,572 (GRCm39) missense probably benign 0.06
R5239:Otog UTSW 7 45,936,859 (GRCm39) missense probably benign 0.15
R5277:Otog UTSW 7 45,896,045 (GRCm39) missense possibly damaging 0.89
R5287:Otog UTSW 7 45,918,753 (GRCm39) missense probably damaging 0.98
R5299:Otog UTSW 7 45,938,275 (GRCm39) missense probably benign 0.16
R5378:Otog UTSW 7 45,904,428 (GRCm39) missense probably damaging 1.00
R5382:Otog UTSW 7 45,898,428 (GRCm39) missense probably damaging 1.00
R5487:Otog UTSW 7 45,938,192 (GRCm39) missense probably benign 0.27
R5507:Otog UTSW 7 45,911,123 (GRCm39) missense probably damaging 1.00
R5517:Otog UTSW 7 45,923,995 (GRCm39) missense probably damaging 1.00
R5643:Otog UTSW 7 45,936,871 (GRCm39) missense probably damaging 1.00
R5757:Otog UTSW 7 45,890,545 (GRCm39) critical splice donor site probably null
R5910:Otog UTSW 7 45,948,022 (GRCm39) missense possibly damaging 0.94
R6019:Otog UTSW 7 45,938,374 (GRCm39) missense probably benign 0.00
R6150:Otog UTSW 7 45,913,483 (GRCm39) missense possibly damaging 0.82
R6225:Otog UTSW 7 45,898,458 (GRCm39) missense possibly damaging 0.67
R6271:Otog UTSW 7 45,901,464 (GRCm39) missense probably damaging 1.00
R6317:Otog UTSW 7 45,950,639 (GRCm39) missense probably damaging 1.00
R6454:Otog UTSW 7 45,955,241 (GRCm39) missense probably damaging 1.00
R6640:Otog UTSW 7 45,911,167 (GRCm39) missense possibly damaging 0.92
R6753:Otog UTSW 7 45,898,495 (GRCm39) missense probably benign 0.06
R6788:Otog UTSW 7 45,947,741 (GRCm39) missense probably damaging 1.00
R6859:Otog UTSW 7 45,923,205 (GRCm39) missense probably damaging 0.96
R7033:Otog UTSW 7 45,916,822 (GRCm39) critical splice donor site probably null
R7071:Otog UTSW 7 45,916,747 (GRCm39) missense probably damaging 1.00
R7084:Otog UTSW 7 45,947,990 (GRCm39) nonsense probably null
R7116:Otog UTSW 7 45,947,689 (GRCm39) missense probably damaging 0.99
R7202:Otog UTSW 7 45,937,474 (GRCm39) missense probably damaging 0.97
R7365:Otog UTSW 7 45,947,732 (GRCm39) missense probably damaging 1.00
R7468:Otog UTSW 7 45,913,543 (GRCm39) missense probably benign
R7475:Otog UTSW 7 45,916,700 (GRCm39) missense probably damaging 0.99
R7502:Otog UTSW 7 45,948,039 (GRCm39) missense probably damaging 1.00
R7558:Otog UTSW 7 45,952,584 (GRCm39) missense probably damaging 0.99
R7577:Otog UTSW 7 45,937,279 (GRCm39) missense possibly damaging 0.62
R7651:Otog UTSW 7 45,891,185 (GRCm39) missense probably benign 0.00
R7689:Otog UTSW 7 45,901,480 (GRCm39) missense probably damaging 1.00
R7806:Otog UTSW 7 45,935,200 (GRCm39) missense probably benign
R7933:Otog UTSW 7 45,959,571 (GRCm39) missense probably damaging 1.00
R8021:Otog UTSW 7 45,916,766 (GRCm39) missense probably damaging 0.98
R8082:Otog UTSW 7 45,939,143 (GRCm39) missense probably damaging 1.00
R8531:Otog UTSW 7 45,901,473 (GRCm39) missense probably damaging 0.99
R8772:Otog UTSW 7 45,934,352 (GRCm39) missense probably damaging 1.00
R8816:Otog UTSW 7 45,950,905 (GRCm39) missense possibly damaging 0.92
R8842:Otog UTSW 7 45,895,948 (GRCm39) missense probably damaging 1.00
R8987:Otog UTSW 7 45,936,878 (GRCm39) missense probably benign 0.43
R8988:Otog UTSW 7 45,959,571 (GRCm39) missense probably damaging 1.00
R9010:Otog UTSW 7 45,949,894 (GRCm39) missense probably benign 0.00
R9025:Otog UTSW 7 45,937,520 (GRCm39) missense probably benign 0.13
R9131:Otog UTSW 7 45,952,597 (GRCm39) nonsense probably null
R9179:Otog UTSW 7 45,937,885 (GRCm39) missense possibly damaging 0.65
R9334:Otog UTSW 7 45,909,353 (GRCm39) missense possibly damaging 0.95
R9365:Otog UTSW 7 45,920,688 (GRCm39) missense probably damaging 1.00
R9408:Otog UTSW 7 45,916,721 (GRCm39) missense possibly damaging 0.79
R9418:Otog UTSW 7 45,938,024 (GRCm39) missense probably benign 0.41
R9465:Otog UTSW 7 45,955,299 (GRCm39) missense possibly damaging 0.80
R9496:Otog UTSW 7 45,890,505 (GRCm39) missense unknown
R9632:Otog UTSW 7 45,915,143 (GRCm39) missense probably benign 0.27
R9656:Otog UTSW 7 45,959,567 (GRCm39) missense probably damaging 1.00
RF024:Otog UTSW 7 45,937,093 (GRCm39) missense probably damaging 1.00
X0062:Otog UTSW 7 45,909,345 (GRCm39) missense probably damaging 1.00
Z1177:Otog UTSW 7 45,939,164 (GRCm39) missense probably damaging 1.00
Z1177:Otog UTSW 7 45,923,962 (GRCm39) missense probably damaging 1.00
Z1177:Otog UTSW 7 45,912,276 (GRCm39) missense possibly damaging 0.80
Z1177:Otog UTSW 7 45,959,409 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGATGCCTAGGGAGTCAGTTC -3'
(R):5'- TCCTTACCACACAGGCCATG -3'

Sequencing Primer
(F):5'- CCTAGGGAGTCAGTTCAGTGATG -3'
(R):5'- ATGGCCCTGGGTCTTGC -3'
Posted On 2019-06-07