Incidental Mutation 'IGL00671:Otop2'
ID 13666
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Otop2
Ensembl Gene ENSMUSG00000050201
Gene Name otopetrin 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00671
Quality Score
Status
Chromosome 11
Chromosomal Location 115197989-115223129 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115222735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 539 (N539S)
Ref Sequence ENSEMBL: ENSMUSP00000102154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019006] [ENSMUST00000055490] [ENSMUST00000106543] [ENSMUST00000106544]
AlphaFold Q80SX5
Predicted Effect probably benign
Transcript: ENSMUST00000019006
SMART Domains Protein: ENSMUSP00000019006
Gene: ENSMUSG00000018862

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 damaging
Transcript: ENSMUST00000055490
AA Change: N539S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062109
Gene: ENSMUSG00000050201
AA Change: N539S

DomainStartEndE-ValueType
transmembrane domain 30 52 N/A INTRINSIC
transmembrane domain 62 81 N/A INTRINSIC
Pfam:Otopetrin 102 225 1e-18 PFAM
Pfam:Otopetrin 214 451 5.5e-20 PFAM
Pfam:Otopetrin 479 550 8.9e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106543
SMART Domains Protein: ENSMUSP00000102153
Gene: ENSMUSG00000018862

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 probably damaging
Transcript: ENSMUST00000106544
AA Change: N539S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102154
Gene: ENSMUSG00000050201
AA Change: N539S

DomainStartEndE-ValueType
transmembrane domain 30 52 N/A INTRINSIC
transmembrane domain 62 81 N/A INTRINSIC
Pfam:Otopetrin 102 450 7.9e-54 PFAM
Pfam:Otopetrin 476 550 2e-16 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,980,745 (GRCm39) R576* probably null Het
Astl T C 2: 127,185,941 (GRCm39) probably null Het
Atp6v1h T C 1: 5,194,694 (GRCm39) probably null Het
Avpr1a A T 10: 122,285,256 (GRCm39) I183L probably benign Het
Cep83 A G 10: 94,625,626 (GRCm39) T679A possibly damaging Het
Dennd1b A T 1: 139,061,475 (GRCm39) I386F possibly damaging Het
Dnaaf6rt G A 1: 31,262,053 (GRCm39) V12I probably benign Het
Ect2 T C 3: 27,192,818 (GRCm39) N344S probably benign Het
Ghrh G A 2: 157,175,389 (GRCm39) H31Y probably benign Het
Gpc6 A T 14: 117,424,199 (GRCm39) T96S probably benign Het
Man2b1 A C 8: 85,820,567 (GRCm39) D618A probably damaging Het
Myh2 A G 11: 67,084,183 (GRCm39) E1602G probably damaging Het
Myo16 T A 8: 10,411,067 (GRCm39) I175N probably damaging Het
Oga C A 19: 45,753,979 (GRCm39) A632S possibly damaging Het
Otof C T 5: 30,543,097 (GRCm39) probably null Het
Ralbp1 T A 17: 66,171,607 (GRCm39) E122V possibly damaging Het
Spata31e2 A T 1: 26,723,940 (GRCm39) S413R possibly damaging Het
Tcf12 T A 9: 71,775,400 (GRCm39) N450I probably damaging Het
Tle3 T A 9: 61,319,652 (GRCm39) N492K probably damaging Het
Ttll8 T C 15: 88,798,356 (GRCm39) D793G probably benign Het
Uggt2 T C 14: 119,280,211 (GRCm39) T756A possibly damaging Het
Zfand1 T C 3: 10,411,084 (GRCm39) H96R probably damaging Het
Zfp617 C T 8: 72,686,386 (GRCm39) R239* probably null Het
Zmpste24 A G 4: 120,940,012 (GRCm39) probably benign Het
Other mutations in Otop2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01832:Otop2 APN 11 115,217,769 (GRCm39) missense probably benign
IGL02114:Otop2 APN 11 115,217,806 (GRCm39) missense possibly damaging 0.64
IGL02432:Otop2 APN 11 115,219,988 (GRCm39) missense probably damaging 0.99
IGL02453:Otop2 APN 11 115,215,455 (GRCm39) nonsense probably null
IGL02986:Otop2 APN 11 115,220,393 (GRCm39) missense probably benign 0.11
IGL03225:Otop2 APN 11 115,220,633 (GRCm39) missense probably damaging 1.00
R0402:Otop2 UTSW 11 115,217,234 (GRCm39) splice site probably benign
R0553:Otop2 UTSW 11 115,220,288 (GRCm39) missense probably damaging 0.98
R1209:Otop2 UTSW 11 115,215,469 (GRCm39) missense possibly damaging 0.70
R1497:Otop2 UTSW 11 115,220,675 (GRCm39) splice site probably null
R1765:Otop2 UTSW 11 115,215,504 (GRCm39) missense probably benign 0.04
R1822:Otop2 UTSW 11 115,215,454 (GRCm39) missense probably benign 0.41
R1926:Otop2 UTSW 11 115,217,781 (GRCm39) missense probably benign 0.00
R2151:Otop2 UTSW 11 115,220,237 (GRCm39) missense possibly damaging 0.90
R2192:Otop2 UTSW 11 115,217,757 (GRCm39) missense possibly damaging 0.63
R2350:Otop2 UTSW 11 115,217,676 (GRCm39) missense probably damaging 0.97
R2352:Otop2 UTSW 11 115,219,927 (GRCm39) missense probably damaging 1.00
R2915:Otop2 UTSW 11 115,219,972 (GRCm39) missense probably benign 0.07
R3614:Otop2 UTSW 11 115,219,972 (GRCm39) missense probably benign 0.07
R4060:Otop2 UTSW 11 115,220,201 (GRCm39) missense probably damaging 1.00
R4061:Otop2 UTSW 11 115,220,201 (GRCm39) missense probably damaging 1.00
R4062:Otop2 UTSW 11 115,220,201 (GRCm39) missense probably damaging 1.00
R4063:Otop2 UTSW 11 115,220,201 (GRCm39) missense probably damaging 1.00
R4064:Otop2 UTSW 11 115,220,201 (GRCm39) missense probably damaging 1.00
R4184:Otop2 UTSW 11 115,220,671 (GRCm39) missense probably benign 0.05
R4844:Otop2 UTSW 11 115,214,201 (GRCm39) splice site probably null
R5681:Otop2 UTSW 11 115,217,685 (GRCm39) missense probably damaging 1.00
R5713:Otop2 UTSW 11 115,219,870 (GRCm39) missense probably damaging 0.98
R6738:Otop2 UTSW 11 115,220,318 (GRCm39) missense probably damaging 1.00
R6975:Otop2 UTSW 11 115,220,152 (GRCm39) missense possibly damaging 0.93
R8866:Otop2 UTSW 11 115,220,354 (GRCm39) missense probably benign
R9017:Otop2 UTSW 11 115,214,431 (GRCm39) missense probably benign 0.11
R9062:Otop2 UTSW 11 115,214,465 (GRCm39) missense probably benign 0.06
R9205:Otop2 UTSW 11 115,219,912 (GRCm39) missense probably damaging 1.00
R9524:Otop2 UTSW 11 115,214,503 (GRCm39) missense probably benign 0.00
RF013:Otop2 UTSW 11 115,214,492 (GRCm39) missense probably benign 0.03
Posted On 2012-12-06