Incidental Mutation 'F5770:Otop3'
ID 178010
Institutional Source Beutler Lab
Gene Symbol Otop3
Ensembl Gene ENSMUSG00000018862
Gene Name otopetrin 3
Synonyms 2310011E08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # F5770 (G1)
Quality Score 183
Status Validated
Chromosome 11
Chromosomal Location 115225557-115237753 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115235664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 432 (L432Q)
Ref Sequence ENSEMBL: ENSMUSP00000102153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019006] [ENSMUST00000044152] [ENSMUST00000106542] [ENSMUST00000106543]
AlphaFold Q80UF9
Predicted Effect probably damaging
Transcript: ENSMUST00000019006
AA Change: L451Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019006
Gene: ENSMUSG00000018862
AA Change: L451Q

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
transmembrane domain 70 92 N/A INTRINSIC
transmembrane domain 102 120 N/A INTRINSIC
Pfam:Otopetrin 142 483 3e-40 PFAM
Pfam:Otopetrin 506 583 1.2e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000044152
SMART Domains Protein: ENSMUSP00000043789
Gene: ENSMUSG00000034586

DomainStartEndE-ValueType
Pfam:Dymeclin 1 763 3.9e-242 PFAM
Pfam:Hid1 1 784 3.1e-260 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106542
SMART Domains Protein: ENSMUSP00000102152
Gene: ENSMUSG00000034586

DomainStartEndE-ValueType
Pfam:Dymeclin 1 764 7.5e-275 PFAM
Pfam:Hid1 1 785 2.3e-261 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106543
AA Change: L432Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102153
Gene: ENSMUSG00000018862
AA Change: L432Q

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
transmembrane domain 70 92 N/A INTRINSIC
transmembrane domain 102 120 N/A INTRINSIC
transmembrane domain 141 163 N/A INTRINSIC
transmembrane domain 178 195 N/A INTRINSIC
transmembrane domain 208 227 N/A INTRINSIC
Pfam:Otopetrin 241 462 2.1e-20 PFAM
Pfam:Otopetrin 487 564 2.2e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146256
Meta Mutation Damage Score 0.6093 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (96/97)
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik A T 4: 122,595,050 (GRCm39) H102L possibly damaging Het
Abcb5 T A 12: 118,849,914 (GRCm39) M950L probably benign Het
Ahcy G A 2: 154,906,841 (GRCm39) R151* probably null Het
Arhgef38 T G 3: 132,855,301 (GRCm39) H262P probably damaging Het
Atp6v1h A G 1: 5,194,666 (GRCm39) T282A possibly damaging Het
Camk2g T C 14: 20,789,380 (GRCm39) probably benign Het
Casp8ap2 C T 4: 32,639,944 (GRCm39) H333Y probably benign Het
Cd36 ACTGTCTGT ACTGT 5: 18,025,526 (GRCm39) probably null Het
Cdc42bpb C T 12: 111,262,825 (GRCm39) G1501S probably benign Het
Cfi T A 3: 129,648,641 (GRCm39) I175K possibly damaging Het
Clasp1 G A 1: 118,509,078 (GRCm39) R1027Q probably damaging Het
D630003M21Rik T C 2: 158,042,931 (GRCm39) T870A probably benign Het
Dcaf4 C A 12: 83,584,475 (GRCm39) probably null Het
Dnah12 T A 14: 26,495,050 (GRCm39) N1369K possibly damaging Het
Dnajc22 T A 15: 98,999,363 (GRCm39) Y183N probably damaging Het
Dpyd C T 3: 118,690,775 (GRCm39) Q295* probably null Het
Dync2i1 A C 12: 116,175,460 (GRCm39) S906A possibly damaging Het
Erv3 T C 2: 131,697,846 (GRCm39) H171R possibly damaging Het
Fam221b T C 4: 43,665,865 (GRCm39) T249A probably benign Het
Fbrsl1 C T 5: 110,527,292 (GRCm39) A129T possibly damaging Het
Fcgr1 T C 3: 96,191,592 (GRCm39) *405W probably null Het
Gdap1l1 C T 2: 163,289,406 (GRCm39) probably benign Het
Glrx3 A G 7: 137,060,882 (GRCm39) H172R probably benign Het
Gm10770 T A 2: 150,021,404 (GRCm39) K38* probably null Het
Gm20517 G A 17: 47,929,757 (GRCm39) V65M probably damaging Het
Gm4787 G A 12: 81,424,341 (GRCm39) Q606* probably null Het
Golga4 A G 9: 118,385,143 (GRCm39) E727G possibly damaging Het
Got1 T A 19: 43,489,000 (GRCm39) probably benign Het
Heatr5a A G 12: 51,928,061 (GRCm39) probably benign Het
Hira G A 16: 18,713,571 (GRCm39) A29T probably damaging Het
Hnrnpab A T 11: 51,493,451 (GRCm39) N252K probably benign Het
Ing1 T C 8: 11,611,934 (GRCm39) V124A probably damaging Het
Izumo4 A T 10: 80,539,725 (GRCm39) T155S probably benign Het
Kcnb2 A G 1: 15,780,315 (GRCm39) I396V probably benign Het
Klc1 A T 12: 111,741,006 (GRCm39) I161F probably benign Het
Lpar5 C A 6: 125,058,690 (GRCm39) A137E possibly damaging Het
Lrp4 C T 2: 91,318,863 (GRCm39) S900L possibly damaging Het
Lrrc37a T G 11: 103,346,338 (GRCm39) N3176T possibly damaging Het
Mbd5 A G 2: 49,206,422 (GRCm39) D1713G probably damaging Het
Mctp2 T A 7: 71,771,499 (GRCm39) probably benign Het
Muc6 T G 7: 141,233,880 (GRCm39) E808A probably benign Het
Mylk G T 16: 34,815,574 (GRCm39) probably null Het
Myrfl T C 10: 116,697,435 (GRCm39) T30A probably damaging Het
Nbeal2 A G 9: 110,467,005 (GRCm39) V670A possibly damaging Het
Nphp3 T C 9: 103,913,093 (GRCm39) probably null Het
Numbl T C 7: 26,979,027 (GRCm39) S379P probably benign Het
Or10j7 G T 1: 173,011,531 (GRCm39) L157I probably benign Het
Or5an6 G A 19: 12,371,914 (GRCm39) V96I probably benign Het
Or5p57 G T 7: 107,665,885 (GRCm39) T40K probably benign Het
Papln C T 12: 83,825,608 (GRCm39) R608C possibly damaging Het
Pelp1 T A 11: 70,288,976 (GRCm39) T257S probably damaging Het
Pigx T C 16: 31,906,240 (GRCm39) D129G probably damaging Het
Pik3cd A C 4: 149,741,776 (GRCm39) L390R probably damaging Het
Plekhb1 T C 7: 100,303,825 (GRCm39) T112A probably benign Het
Ppwd1 A G 13: 104,356,745 (GRCm39) Y257H probably damaging Het
Prkcb G T 7: 122,127,699 (GRCm39) W274C probably damaging Het
Rabep1 T C 11: 70,828,342 (GRCm39) probably benign Het
Ralgapa1 G A 12: 55,842,438 (GRCm39) probably benign Het
Rasa1 A G 13: 85,375,064 (GRCm39) probably null Het
Rbbp8nl T A 2: 179,920,001 (GRCm39) T558S probably benign Het
Recql4 T C 15: 76,590,369 (GRCm39) D705G possibly damaging Het
Ror1 A G 4: 100,298,130 (GRCm39) Q501R probably damaging Het
Rundc3b TGCCGCCGCCGCCGCCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCGCCGC 5: 8,672,549 (GRCm39) probably benign Het
Sirpb1b A G 3: 15,568,243 (GRCm39) V366A probably benign Het
Slc30a4 T A 2: 122,531,458 (GRCm39) M136L probably benign Het
Slc5a6 C T 5: 31,199,957 (GRCm39) probably null Het
Spaca1 T C 4: 34,039,311 (GRCm39) E192G probably damaging Het
Spata31 C A 13: 65,069,462 (GRCm39) P537T probably benign Het
Sptbn2 C T 19: 4,800,660 (GRCm39) R2292C probably damaging Het
Thbd A T 2: 148,249,110 (GRCm39) Y253N probably benign Het
Tiam1 C T 16: 89,662,159 (GRCm39) R653H probably damaging Het
Tmc3 T C 7: 83,271,713 (GRCm39) V955A probably benign Het
Tnrc6c G A 11: 117,614,152 (GRCm39) R770H probably damaging Het
Toe1 A T 4: 116,663,308 (GRCm39) N56K probably damaging Het
Tprkb A G 6: 85,905,764 (GRCm39) K150E probably damaging Het
Trps1 T C 15: 50,694,973 (GRCm39) K150E probably damaging Het
Tspyl3 A G 2: 153,066,980 (GRCm39) V86A probably benign Het
Ttc23 T C 7: 67,359,063 (GRCm39) probably benign Het
Ttc36 A T 9: 44,713,094 (GRCm39) probably benign Het
Tubb3 C T 8: 124,138,414 (GRCm39) probably benign Het
Vmn2r68 C T 7: 84,871,088 (GRCm39) V732I probably benign Het
Vps18 A G 2: 119,127,709 (GRCm39) Y844C probably benign Het
Wdr72 T A 9: 74,064,552 (GRCm39) I528N probably damaging Het
Zfp292 C T 4: 34,806,783 (GRCm39) C2087Y possibly damaging Het
Zfp606 T G 7: 12,215,123 (GRCm39) probably benign Het
Zfp933 G A 4: 147,910,927 (GRCm39) A223V probably damaging Het
Zmynd8 G A 2: 165,654,314 (GRCm39) R724* probably null Het
Other mutations in Otop3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Otop3 APN 11 115,235,279 (GRCm39) missense probably benign
IGL00159:Otop3 APN 11 115,235,223 (GRCm39) missense probably damaging 1.00
IGL01372:Otop3 APN 11 115,235,930 (GRCm39) missense possibly damaging 0.86
IGL01380:Otop3 APN 11 115,237,237 (GRCm39) missense probably damaging 1.00
IGL01960:Otop3 APN 11 115,231,795 (GRCm39) missense probably damaging 0.97
IGL03099:Otop3 APN 11 115,230,408 (GRCm39) missense probably damaging 0.99
R1560:Otop3 UTSW 11 115,235,289 (GRCm39) missense possibly damaging 0.89
R2847:Otop3 UTSW 11 115,235,384 (GRCm39) missense probably damaging 0.99
R2849:Otop3 UTSW 11 115,235,384 (GRCm39) missense probably damaging 0.99
R5582:Otop3 UTSW 11 115,230,165 (GRCm39) missense unknown
R6383:Otop3 UTSW 11 115,235,898 (GRCm39) missense probably damaging 0.99
R6601:Otop3 UTSW 11 115,230,673 (GRCm39) missense probably damaging 0.98
R7001:Otop3 UTSW 11 115,230,479 (GRCm39) missense probably damaging 1.00
R7339:Otop3 UTSW 11 115,237,204 (GRCm39) missense probably damaging 1.00
R7487:Otop3 UTSW 11 115,235,826 (GRCm39) missense probably benign
R7609:Otop3 UTSW 11 115,230,546 (GRCm39) missense possibly damaging 0.63
R7639:Otop3 UTSW 11 115,235,187 (GRCm39) missense possibly damaging 0.94
R7643:Otop3 UTSW 11 115,230,474 (GRCm39) missense probably damaging 1.00
R7820:Otop3 UTSW 11 115,230,414 (GRCm39) missense probably damaging 0.99
R8044:Otop3 UTSW 11 115,237,261 (GRCm39) missense probably damaging 1.00
R8110:Otop3 UTSW 11 115,230,221 (GRCm39) missense probably benign
R8281:Otop3 UTSW 11 115,235,901 (GRCm39) missense possibly damaging 0.88
R8556:Otop3 UTSW 11 115,235,782 (GRCm39) missense probably benign 0.00
R8899:Otop3 UTSW 11 115,231,886 (GRCm39) critical splice donor site probably null
R9137:Otop3 UTSW 11 115,235,868 (GRCm39) missense possibly damaging 0.88
R9165:Otop3 UTSW 11 115,235,424 (GRCm39) missense possibly damaging 0.62
R9306:Otop3 UTSW 11 115,237,248 (GRCm39) missense probably benign 0.09
R9788:Otop3 UTSW 11 115,235,087 (GRCm39) missense unknown
V7580:Otop3 UTSW 11 115,235,664 (GRCm39) missense probably damaging 1.00
V7581:Otop3 UTSW 11 115,235,664 (GRCm39) missense probably damaging 1.00
V7582:Otop3 UTSW 11 115,235,664 (GRCm39) missense probably damaging 1.00
V7583:Otop3 UTSW 11 115,235,664 (GRCm39) missense probably damaging 1.00
X0022:Otop3 UTSW 11 115,230,693 (GRCm39) missense probably benign 0.01
Z1176:Otop3 UTSW 11 115,231,838 (GRCm39) missense probably damaging 1.00
Z1176:Otop3 UTSW 11 115,230,670 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2014-05-07