Incidental Mutation 'R7493:Otogl'
ID 580942
Institutional Source Beutler Lab
Gene Symbol Otogl
Ensembl Gene ENSMUSG00000091455
Gene Name otogelin-like
Synonyms Gm6924
MMRRC Submission 045567-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7493 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 107596392-107747995 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107722843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 296 (N296S)
Ref Sequence ENSEMBL: ENSMUSP00000129467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165341]
AlphaFold F7A4A7
Predicted Effect probably benign
Transcript: ENSMUST00000165341
AA Change: N296S

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000129467
Gene: ENSMUSG00000091455
AA Change: N296S

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
Meta Mutation Damage Score 0.0717 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (74/76)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,385,257 (GRCm39) L236P possibly damaging Het
Abca7 T A 10: 79,837,896 (GRCm39) D488E probably damaging Het
Adora2a A G 10: 75,169,423 (GRCm39) K296E possibly damaging Het
Aopep A G 13: 63,163,345 (GRCm39) D122G probably benign Het
Atp13a4 T A 16: 29,290,774 (GRCm39) E225V Het
Bpifb2 A G 2: 153,731,397 (GRCm39) M258V possibly damaging Het
Brd2 G A 17: 34,341,231 (GRCm39) probably benign Het
Btaf1 G T 19: 36,987,005 (GRCm39) V1700F probably damaging Het
C2cd3 A G 7: 100,076,433 (GRCm39) I797V Het
Ccdc148 T G 2: 58,899,160 (GRCm39) E71A probably damaging Het
Ccdc18 T A 5: 108,354,483 (GRCm39) L1074* probably null Het
Ccne2 A G 4: 11,198,772 (GRCm39) D215G probably damaging Het
Cers6 T A 2: 68,692,151 (GRCm39) probably null Het
Copz1 A G 15: 103,204,971 (GRCm39) E110G probably damaging Het
Cped1 A T 6: 22,215,512 (GRCm39) D682V probably damaging Het
Crb1 A T 1: 139,164,768 (GRCm39) C1180S probably damaging Het
Cyren A T 6: 34,851,593 (GRCm39) L114Q probably damaging Het
Echdc3 A T 2: 6,194,368 (GRCm39) L229Q probably damaging Het
Etfb C T 7: 43,104,000 (GRCm39) P145L probably damaging Het
Exoc3l2 G T 7: 19,203,813 (GRCm39) R135L Het
Fam83a G A 15: 57,849,569 (GRCm39) A38T probably damaging Het
G6pc2 T C 2: 69,053,344 (GRCm39) Y133H probably benign Het
Gfy T C 7: 44,827,518 (GRCm39) I193V probably benign Het
Ggnbp2 T C 11: 84,744,899 (GRCm39) T208A probably benign Het
Gigyf1 T A 5: 137,523,795 (GRCm39) M1019K probably damaging Het
Gm45783 T C 7: 7,373,599 (GRCm39) D61G probably damaging Het
Golga5 T C 12: 102,450,835 (GRCm39) probably null Het
Ighe A G 12: 113,235,023 (GRCm39) V379A Het
Itpr3 C A 17: 27,313,774 (GRCm39) H573Q probably benign Het
Klhl2 A G 8: 65,202,809 (GRCm39) L463P probably damaging Het
Large1 T G 8: 73,550,343 (GRCm39) M619L probably benign Het
Limd1 T A 9: 123,308,748 (GRCm39) V149E probably benign Het
Lyz2 T C 10: 117,118,144 (GRCm39) K2E probably damaging Het
Man2c1 T A 9: 57,048,412 (GRCm39) S858T probably damaging Het
Nt5dc1 A T 10: 34,180,932 (GRCm39) N439K probably benign Het
Or4a2 A G 2: 89,248,145 (GRCm39) I204T probably benign Het
Or4n4b G A 14: 50,536,281 (GRCm39) L162F probably benign Het
Or4p7 T C 2: 88,222,224 (GRCm39) V211A possibly damaging Het
Or51f1 A T 7: 102,506,278 (GRCm39) Y70* probably null Het
Or5d43 T C 2: 88,105,445 (GRCm39) probably benign Het
Or7g27 A C 9: 19,250,109 (GRCm39) M118L probably damaging Het
Patj A G 4: 98,383,298 (GRCm39) N789D probably benign Het
Pcsk6 A G 7: 65,693,314 (GRCm39) D851G possibly damaging Het
Peg3 T C 7: 6,712,723 (GRCm39) H833R probably damaging Het
Pira1 T C 7: 3,742,023 (GRCm39) E119G not run Het
Plekha5 A G 6: 140,526,161 (GRCm39) D933G probably benign Het
Pnma1 G A 12: 84,193,903 (GRCm39) R267C probably damaging Het
Ppp3cb T A 14: 20,558,619 (GRCm39) H481L probably benign Het
Prl8a8 T C 13: 27,695,418 (GRCm39) probably null Het
Ptma GGAAGAAG GGAAGAAGAAG 1: 86,457,261 (GRCm39) probably benign Het
Ptpro C A 6: 137,359,647 (GRCm39) L406I probably benign Het
Rbpj T C 5: 53,758,276 (GRCm39) S18P probably benign Het
Rhbg C T 3: 88,154,886 (GRCm39) V173M probably damaging Het
Rps6kc1 A G 1: 190,532,254 (GRCm39) S583P probably benign Het
Ryr1 T C 7: 28,794,630 (GRCm39) S1217G probably benign Het
S1pr1 A T 3: 115,505,922 (GRCm39) I224N probably damaging Het
Sall1 C T 8: 89,757,681 (GRCm39) D808N probably benign Het
Shoc2 T C 19: 53,976,467 (GRCm39) V119A probably benign Het
Spata31h1 A T 10: 82,124,798 (GRCm39) Y2737* probably null Het
Spata31h1 T C 10: 82,152,264 (GRCm39) Y34C unknown Het
Ssh2 A T 11: 77,328,542 (GRCm39) E369D probably benign Het
Stx1b C T 7: 127,406,531 (GRCm39) V273M possibly damaging Het
Syne2 A G 12: 76,012,654 (GRCm39) H2615R probably benign Het
Tmc8 T C 11: 117,675,758 (GRCm39) I225T probably benign Het
Tmem126b A G 7: 90,121,854 (GRCm39) I52T probably benign Het
Top2b G A 14: 16,416,605 (GRCm38) D1122N probably benign Het
Trav13-2 T A 14: 53,872,363 (GRCm39) S7T possibly damaging Het
Ttc1 A T 11: 43,636,189 (GRCm39) L18Q probably damaging Het
Ttn A T 2: 76,567,553 (GRCm39) I27780N probably damaging Het
Ubfd1 T C 7: 121,666,635 (GRCm39) S44P probably benign Het
Vmn1r89 A G 7: 12,953,632 (GRCm39) K123E probably damaging Het
Vmn2r62 A C 7: 42,437,316 (GRCm39) F389L possibly damaging Het
Vps35l C T 7: 118,393,800 (GRCm39) probably null Het
Zdhhc11 T A 13: 74,121,726 (GRCm39) M79K possibly damaging Het
Zfp202 G T 9: 40,118,640 (GRCm39) V18F possibly damaging Het
Zfp39 A G 11: 58,781,869 (GRCm39) F298L possibly damaging Het
Znrf1 G A 8: 112,264,071 (GRCm39) G100D probably damaging 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
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
R7754:Otogl UTSW 10 107,705,407 (GRCm39) missense probably damaging 0.99
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'- TGAAGTCATTCCATATTGCAATTACA -3'
(R):5'- TCTACGTGTGTCTTCTGAAATGTTTT -3'

Sequencing Primer
(F):5'- CAACATGCTCCGTTACTTG -3'
(R):5'- CTGGCCTGGAACTCATCAAGTATG -3'
Posted On 2019-10-17