Incidental Mutation 'R7754:Otogl'
ID 597451
Institutional Source Beutler Lab
Gene Symbol Otogl
Ensembl Gene ENSMUSG00000091455
Gene Name otogelin-like
Synonyms Gm6924
MMRRC Submission 045810-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7754 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 107596392-107747995 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107705407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 640 (V640A)
Ref Sequence ENSEMBL: ENSMUSP00000129467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165341]
AlphaFold F7A4A7
Predicted Effect probably damaging
Transcript: ENSMUST00000165341
AA Change: V640A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129467
Gene: ENSMUSG00000091455
AA Change: V640A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
EGF_like 71 101 3.36e1 SMART
VWD 104 264 4.74e-29 SMART
C8 305 378 6.13e-6 SMART
VWD 463 625 7e-41 SMART
C8 668 733 3.6e-3 SMART
Pfam:TIL 736 791 2.3e-11 PFAM
SCOP:d1coua_ 833 911 1e-6 SMART
VWD 928 1085 1.29e-30 SMART
C8 1120 1194 1.81e-26 SMART
Pfam:AbfB 1230 1350 1.2e-10 PFAM
Pfam:TIL 1364 1418 6.1e-8 PFAM
VWD 1497 1671 2.34e-10 SMART
C8 1705 1775 9.56e-17 SMART
Pfam:TIL 1778 1836 1.6e-8 PFAM
low complexity region 1870 1886 N/A INTRINSIC
CT 2242 2325 6.9e-14 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (66/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik A T 4: 88,786,496 (GRCm39) W41R unknown Het
Aatf G A 11: 84,402,335 (GRCm39) S117L possibly damaging Het
Abca12 C A 1: 71,342,046 (GRCm39) V972L probably benign Het
Abcb11 T A 2: 69,117,162 (GRCm39) R495S probably damaging Het
Acss2 T A 2: 155,403,086 (GRCm39) H621Q probably benign Het
Akap9 T C 5: 4,096,736 (GRCm39) L2537P probably benign Het
Apbb1 C T 7: 105,208,509 (GRCm39) A597T probably damaging Het
Cacna1d A T 14: 29,797,809 (GRCm39) I1448N probably damaging Het
Cacna1e C T 1: 154,288,863 (GRCm39) E1841K probably damaging Het
Ccdc162 G T 10: 41,463,371 (GRCm39) P1457Q probably damaging Het
Cep70 A G 9: 99,163,145 (GRCm39) K331E probably damaging Het
Cplane1 C A 15: 8,273,310 (GRCm39) Q2534K possibly damaging Het
Cstpp1 A T 2: 91,135,188 (GRCm39) probably null Het
D430041D05Rik A T 2: 104,087,504 (GRCm39) Y491N probably benign Het
Dnah6 T C 6: 73,002,703 (GRCm39) I3898V probably benign Het
Drd2 A G 9: 49,316,277 (GRCm39) T346A probably benign Het
Efcab9 T C 11: 32,472,941 (GRCm39) T169A possibly damaging Het
Fam163a A T 1: 155,955,729 (GRCm39) I21N probably damaging Het
Fam171a2 C T 11: 102,329,389 (GRCm39) D457N probably benign Het
Fbn1 A T 2: 125,321,200 (GRCm39) probably null Het
Gpr37 A T 6: 25,689,049 (GRCm39) L16H probably damaging Het
Gtf3c2 T C 5: 31,330,175 (GRCm39) D265G probably benign Het
Idh1 G T 1: 65,198,649 (GRCm39) A407D probably benign Het
Ifna12 A G 4: 88,521,415 (GRCm39) M44T probably damaging Het
Il22ra1 A G 4: 135,461,561 (GRCm39) M109V probably benign Het
Jag2 A T 12: 112,879,089 (GRCm39) probably null Het
Lca5l T C 16: 95,960,761 (GRCm39) D572G unknown Het
Lcn11 G A 2: 25,667,830 (GRCm39) V73I probably benign Het
Lrba A G 3: 86,352,704 (GRCm39) T1951A probably damaging Het
Ltbp2 A G 12: 84,860,012 (GRCm39) probably null Het
Malrd1 G A 2: 15,802,610 (GRCm39) probably null Het
Morc2b C A 17: 33,356,218 (GRCm39) G518V probably benign Het
Muc5ac G C 7: 141,363,040 (GRCm39) G2117A unknown Het
Myo5b A T 18: 74,767,630 (GRCm39) T313S probably benign Het
Neto2 C A 8: 86,396,329 (GRCm39) L140F probably damaging Het
Nlgn1 C T 3: 25,488,467 (GRCm39) V623I probably damaging Het
Optc A G 1: 133,834,730 (GRCm39) S15P possibly damaging Het
Or1e25 C T 11: 73,494,332 (GRCm39) Q309* probably null Het
Or1l4b A G 2: 37,036,858 (GRCm39) I211M possibly damaging Het
Or52e19b C A 7: 103,032,945 (GRCm39) W88L probably damaging Het
Or7c19 T A 8: 85,957,427 (GRCm39) M101K possibly damaging Het
Or9k2 T G 10: 129,998,698 (GRCm39) T166P probably damaging Het
Pcdhgb2 T C 18: 37,823,023 (GRCm39) S5P probably benign Het
Pde3a A T 6: 141,404,975 (GRCm39) E400V probably benign Het
Pkhd1l1 A G 15: 44,449,804 (GRCm39) I3856V possibly damaging Het
Pld2 G A 11: 70,443,695 (GRCm39) probably null Het
Plxna4 G T 6: 32,129,807 (GRCm39) H1839N probably damaging Het
Ppp6r2 T C 15: 89,140,904 (GRCm39) V89A probably benign Het
Rapgef3 T C 15: 97,655,627 (GRCm39) D420G probably damaging Het
Rnf17 T A 14: 56,699,529 (GRCm39) probably null Het
Rps6ka2 T A 17: 7,544,848 (GRCm39) probably null Het
Rptn A T 3: 93,303,228 (GRCm39) D187V probably damaging Het
Rtn1 T C 12: 72,355,203 (GRCm39) K248E probably damaging Het
Rtn4rl1 A T 11: 75,155,871 (GRCm39) H101L probably benign Het
Septin3 A G 15: 82,174,974 (GRCm39) N305S probably benign Het
Serpina3f G T 12: 104,183,565 (GRCm39) K142N possibly damaging Het
Ssh1 C A 5: 114,104,295 (GRCm39) R116L probably benign Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Tlr6 T C 5: 65,111,693 (GRCm39) K405E possibly damaging Het
Trbv13-2 G A 6: 41,098,634 (GRCm39) A70T probably benign Het
Ttn A T 2: 76,618,540 (GRCm39) I16248N probably damaging Het
Ttn A T 2: 76,655,849 (GRCm39) probably null Het
Vldlr A T 19: 27,195,015 (GRCm39) M1L probably benign Het
Wscd1 A G 11: 71,675,191 (GRCm39) H366R probably damaging Het
Zbtb8a A G 4: 129,251,496 (GRCm39) probably null Het
Zfp827 T C 8: 79,916,958 (GRCm39) V511A Het
Other mutations in Otogl
AlleleSourceChrCoordTypePredicted EffectPPH Score
H8562:Otogl UTSW 10 107,746,817 (GRCm39) missense probably benign 0.00
R0084:Otogl UTSW 10 107,737,202 (GRCm39) missense probably damaging 0.96
R0164:Otogl UTSW 10 107,710,391 (GRCm39) missense probably damaging 0.97
R0164:Otogl UTSW 10 107,710,391 (GRCm39) missense probably damaging 0.97
R0238:Otogl UTSW 10 107,642,557 (GRCm39) missense probably damaging 0.98
R0238:Otogl UTSW 10 107,642,557 (GRCm39) missense probably damaging 0.98
R0239:Otogl UTSW 10 107,642,557 (GRCm39) missense probably damaging 0.98
R0239:Otogl UTSW 10 107,642,557 (GRCm39) missense probably damaging 0.98
R0294:Otogl UTSW 10 107,613,089 (GRCm39) missense probably damaging 1.00
R0360:Otogl UTSW 10 107,606,511 (GRCm39) splice site probably benign
R0442:Otogl UTSW 10 107,712,716 (GRCm39) missense probably damaging 1.00
R0488:Otogl UTSW 10 107,639,466 (GRCm39) missense probably benign 0.02
R0507:Otogl UTSW 10 107,702,601 (GRCm39) missense possibly damaging 0.51
R0573:Otogl UTSW 10 107,616,849 (GRCm39) missense probably benign 0.00
R0581:Otogl UTSW 10 107,624,901 (GRCm39) missense possibly damaging 0.79
R0613:Otogl UTSW 10 107,652,931 (GRCm39) missense probably damaging 0.99
R0614:Otogl UTSW 10 107,634,216 (GRCm39) missense probably benign 0.14
R0742:Otogl UTSW 10 107,702,601 (GRCm39) missense possibly damaging 0.51
R0846:Otogl UTSW 10 107,608,157 (GRCm39) missense probably benign 0.40
R1146:Otogl UTSW 10 107,722,374 (GRCm39) missense probably damaging 1.00
R1146:Otogl UTSW 10 107,722,374 (GRCm39) missense probably damaging 1.00
R1439:Otogl UTSW 10 107,615,113 (GRCm39) missense probably benign 0.02
R1457:Otogl UTSW 10 107,714,013 (GRCm39) splice site probably null
R1526:Otogl UTSW 10 107,705,387 (GRCm39) missense probably damaging 1.00
R1662:Otogl UTSW 10 107,634,218 (GRCm39) missense possibly damaging 0.84
R1664:Otogl UTSW 10 107,642,437 (GRCm39) missense probably benign 0.00
R1667:Otogl UTSW 10 107,649,826 (GRCm39) nonsense probably null
R1695:Otogl UTSW 10 107,649,878 (GRCm39) missense probably damaging 0.99
R1731:Otogl UTSW 10 107,652,972 (GRCm39) missense probably damaging 1.00
R1733:Otogl UTSW 10 107,619,573 (GRCm39) missense possibly damaging 0.46
R1764:Otogl UTSW 10 107,735,322 (GRCm39) nonsense probably null
R1824:Otogl UTSW 10 107,615,692 (GRCm39) missense probably benign
R1850:Otogl UTSW 10 107,713,925 (GRCm39) missense probably damaging 1.00
R1856:Otogl UTSW 10 107,690,125 (GRCm39) missense possibly damaging 0.92
R1875:Otogl UTSW 10 107,735,451 (GRCm39) missense probably damaging 1.00
R1938:Otogl UTSW 10 107,613,436 (GRCm39) missense probably damaging 0.98
R1986:Otogl UTSW 10 107,630,051 (GRCm39) critical splice acceptor site probably null
R2072:Otogl UTSW 10 107,616,904 (GRCm39) missense probably damaging 1.00
R2117:Otogl UTSW 10 107,694,779 (GRCm39) missense probably benign 0.06
R2219:Otogl UTSW 10 107,692,838 (GRCm39) missense probably damaging 1.00
R2508:Otogl UTSW 10 107,710,361 (GRCm39) missense probably damaging 0.99
R2883:Otogl UTSW 10 107,604,842 (GRCm39) missense probably damaging 1.00
R2931:Otogl UTSW 10 107,655,865 (GRCm39) missense possibly damaging 0.85
R3620:Otogl UTSW 10 107,710,232 (GRCm39) missense probably damaging 0.99
R3621:Otogl UTSW 10 107,710,232 (GRCm39) missense probably damaging 0.99
R3735:Otogl UTSW 10 107,735,390 (GRCm39) nonsense probably null
R3812:Otogl UTSW 10 107,735,332 (GRCm39) missense probably damaging 1.00
R3880:Otogl UTSW 10 107,663,565 (GRCm39) missense probably damaging 0.96
R3958:Otogl UTSW 10 107,657,786 (GRCm39) missense probably damaging 1.00
R4063:Otogl UTSW 10 107,626,510 (GRCm39) missense probably benign 0.02
R4064:Otogl UTSW 10 107,626,510 (GRCm39) missense probably benign 0.02
R4108:Otogl UTSW 10 107,607,105 (GRCm39) missense probably benign 0.01
R4352:Otogl UTSW 10 107,705,396 (GRCm39) missense probably damaging 1.00
R4526:Otogl UTSW 10 107,722,841 (GRCm39) missense probably damaging 1.00
R4614:Otogl UTSW 10 107,727,985 (GRCm39) nonsense probably null
R4703:Otogl UTSW 10 107,657,785 (GRCm39) missense probably damaging 1.00
R4741:Otogl UTSW 10 107,615,121 (GRCm39) missense probably benign 0.00
R4790:Otogl UTSW 10 107,657,894 (GRCm39) critical splice acceptor site probably null
R4801:Otogl UTSW 10 107,737,197 (GRCm39) missense probably damaging 1.00
R4802:Otogl UTSW 10 107,737,197 (GRCm39) missense probably damaging 1.00
R4910:Otogl UTSW 10 107,715,378 (GRCm39) missense probably benign 0.05
R4913:Otogl UTSW 10 107,712,716 (GRCm39) missense probably damaging 0.98
R5238:Otogl UTSW 10 107,604,834 (GRCm39) missense probably damaging 1.00
R5261:Otogl UTSW 10 107,613,453 (GRCm39) missense probably benign 0.16
R5387:Otogl UTSW 10 107,616,794 (GRCm39) missense probably benign 0.03
R5395:Otogl UTSW 10 107,652,999 (GRCm39) missense probably benign 0.39
R5403:Otogl UTSW 10 107,644,617 (GRCm39) missense probably benign 0.08
R5482:Otogl UTSW 10 107,657,802 (GRCm39) missense probably damaging 0.99
R5547:Otogl UTSW 10 107,617,909 (GRCm39) missense possibly damaging 0.55
R5611:Otogl UTSW 10 107,622,630 (GRCm39) missense probably damaging 1.00
R5642:Otogl UTSW 10 107,722,413 (GRCm39) missense probably benign 0.44
R5690:Otogl UTSW 10 107,612,978 (GRCm39) synonymous silent
R5711:Otogl UTSW 10 107,612,978 (GRCm39) synonymous silent
R5731:Otogl UTSW 10 107,717,325 (GRCm39) missense probably damaging 0.98
R5743:Otogl UTSW 10 107,692,862 (GRCm39) missense possibly damaging 0.67
R5782:Otogl UTSW 10 107,612,978 (GRCm39) synonymous silent
R5820:Otogl UTSW 10 107,612,978 (GRCm39) synonymous silent
R5897:Otogl UTSW 10 107,612,978 (GRCm39) synonymous silent
R6004:Otogl UTSW 10 107,715,390 (GRCm39) missense probably damaging 1.00
R6145:Otogl UTSW 10 107,612,978 (GRCm39) synonymous silent
R6146:Otogl UTSW 10 107,612,978 (GRCm39) synonymous silent
R6147:Otogl UTSW 10 107,612,978 (GRCm39) synonymous silent
R6149:Otogl UTSW 10 107,717,314 (GRCm39) missense probably benign 0.36
R6226:Otogl UTSW 10 107,607,067 (GRCm39) nonsense probably null
R6283:Otogl UTSW 10 107,626,361 (GRCm39) missense probably damaging 0.98
R6414:Otogl UTSW 10 107,617,911 (GRCm39) missense probably damaging 1.00
R6604:Otogl UTSW 10 107,657,895 (GRCm39) splice site probably null
R6634:Otogl UTSW 10 107,698,165 (GRCm39) missense probably damaging 1.00
R6727:Otogl UTSW 10 107,612,978 (GRCm39) synonymous silent
R6755:Otogl UTSW 10 107,689,164 (GRCm39) nonsense probably null
R6795:Otogl UTSW 10 107,612,978 (GRCm39) synonymous silent
R6797:Otogl UTSW 10 107,612,978 (GRCm39) synonymous silent
R6864:Otogl UTSW 10 107,663,667 (GRCm39) missense probably damaging 0.96
R6924:Otogl UTSW 10 107,644,502 (GRCm39) missense probably damaging 1.00
R6967:Otogl UTSW 10 107,649,911 (GRCm39) missense probably benign 0.01
R7000:Otogl UTSW 10 107,615,692 (GRCm39) missense probably benign
R7075:Otogl UTSW 10 107,614,790 (GRCm39) missense probably benign 0.16
R7122:Otogl UTSW 10 107,702,515 (GRCm39) missense probably benign 0.08
R7176:Otogl UTSW 10 107,614,772 (GRCm39) missense probably damaging 1.00
R7184:Otogl UTSW 10 107,599,061 (GRCm39) missense probably damaging 1.00
R7199:Otogl UTSW 10 107,710,394 (GRCm39) missense possibly damaging 0.88
R7252:Otogl UTSW 10 107,657,804 (GRCm39) missense probably benign 0.06
R7286:Otogl UTSW 10 107,606,471 (GRCm39) missense probably benign 0.00
R7373:Otogl UTSW 10 107,737,112 (GRCm39) missense probably damaging 1.00
R7449:Otogl UTSW 10 107,639,524 (GRCm39) missense probably damaging 1.00
R7486:Otogl UTSW 10 107,657,849 (GRCm39) missense probably damaging 1.00
R7493:Otogl UTSW 10 107,722,843 (GRCm39) missense probably benign 0.06
R7659:Otogl UTSW 10 107,612,981 (GRCm39) missense probably benign 0.19
R7732:Otogl UTSW 10 107,642,525 (GRCm39) missense probably benign 0.01
R7757:Otogl UTSW 10 107,712,782 (GRCm39) missense probably damaging 1.00
R7800:Otogl UTSW 10 107,722,376 (GRCm39) missense probably damaging 0.99
R7864:Otogl UTSW 10 107,705,428 (GRCm39) missense probably damaging 1.00
R7879:Otogl UTSW 10 107,612,970 (GRCm39) missense probably benign 0.00
R7941:Otogl UTSW 10 107,642,663 (GRCm39) splice site probably null
R7956:Otogl UTSW 10 107,713,887 (GRCm39) missense possibly damaging 0.62
R7988:Otogl UTSW 10 107,731,637 (GRCm39) missense probably damaging 1.00
R8057:Otogl UTSW 10 107,644,476 (GRCm39) missense probably benign 0.00
R8058:Otogl UTSW 10 107,598,287 (GRCm39) missense probably damaging 1.00
R8127:Otogl UTSW 10 107,731,613 (GRCm39) missense probably damaging 1.00
R8143:Otogl UTSW 10 107,642,527 (GRCm39) missense probably damaging 1.00
R8310:Otogl UTSW 10 107,613,461 (GRCm39) missense possibly damaging 0.94
R8319:Otogl UTSW 10 107,689,127 (GRCm39) critical splice donor site probably null
R8339:Otogl UTSW 10 107,625,397 (GRCm39) missense probably benign 0.34
R8339:Otogl UTSW 10 107,625,396 (GRCm39) missense probably damaging 0.99
R8394:Otogl UTSW 10 107,722,326 (GRCm39) critical splice donor site probably null
R8428:Otogl UTSW 10 107,634,597 (GRCm39) missense probably damaging 1.00
R8444:Otogl UTSW 10 107,692,975 (GRCm39) missense probably benign 0.01
R8501:Otogl UTSW 10 107,626,421 (GRCm39) missense probably benign
R8503:Otogl UTSW 10 107,727,987 (GRCm39) missense probably damaging 1.00
R8680:Otogl UTSW 10 107,747,936 (GRCm39) critical splice donor site probably null
R9025:Otogl UTSW 10 107,613,432 (GRCm39) missense probably damaging 0.99
R9090:Otogl UTSW 10 107,652,974 (GRCm39) missense probably null 0.99
R9223:Otogl UTSW 10 107,690,205 (GRCm39) missense probably damaging 0.99
R9268:Otogl UTSW 10 107,616,917 (GRCm39) missense probably damaging 1.00
R9271:Otogl UTSW 10 107,652,974 (GRCm39) missense probably null 0.99
R9356:Otogl UTSW 10 107,617,890 (GRCm39) missense probably damaging 1.00
R9484:Otogl UTSW 10 107,737,156 (GRCm39) missense probably damaging 1.00
R9484:Otogl UTSW 10 107,657,894 (GRCm39) critical splice acceptor site probably null
R9571:Otogl UTSW 10 107,598,364 (GRCm39) missense possibly damaging 0.94
R9731:Otogl UTSW 10 107,735,328 (GRCm39) missense probably damaging 1.00
X0065:Otogl UTSW 10 107,731,643 (GRCm39) missense probably damaging 1.00
X0067:Otogl UTSW 10 107,702,538 (GRCm39) missense probably damaging 1.00
Z1176:Otogl UTSW 10 107,614,734 (GRCm39) missense probably damaging 0.97
Z1176:Otogl UTSW 10 107,613,074 (GRCm39) missense probably benign
Z1176:Otogl UTSW 10 107,624,893 (GRCm39) missense probably benign 0.00
Z1177:Otogl UTSW 10 107,689,258 (GRCm39) missense possibly damaging 0.78
Z1177:Otogl UTSW 10 107,599,119 (GRCm39) nonsense probably null
Z1177:Otogl UTSW 10 107,712,764 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- GGCTCTTGGCGTAATGAATAAATC -3'
(R):5'- GAGTGTTTTCTGCACAAGGC -3'

Sequencing Primer
(F):5'- CTCCCCTAAGTCTAAGTGTAG -3'
(R):5'- GGAGACTCAATAGCATCATGTATG -3'
Posted On 2019-11-26