Incidental Mutation 'R1822:Otop2'
ID 206501
Institutional Source Beutler Lab
Gene Symbol Otop2
Ensembl Gene ENSMUSG00000050201
Gene Name otopetrin 2
Synonyms
MMRRC Submission 039850-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1822 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 115197989-115223129 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115215454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 125 (Y125F)
Ref Sequence ENSEMBL: ENSMUSP00000102154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055490] [ENSMUST00000103037] [ENSMUST00000106544]
AlphaFold Q80SX5
Predicted Effect probably benign
Transcript: ENSMUST00000055490
AA Change: Y125F

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000062109
Gene: ENSMUSG00000050201
AA Change: Y125F

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: ENSMUST00000103037
SMART Domains Protein: ENSMUSP00000099326
Gene: ENSMUSG00000045288

DomainStartEndE-ValueType
ANK 31 60 1.83e-3 SMART
ANK 64 93 8.07e-5 SMART
ANK 97 126 6.26e-2 SMART
low complexity region 159 190 N/A INTRINSIC
PDB:3PVL|B 295 368 3e-30 PDB
SAM 385 449 1.34e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106544
AA Change: Y125F

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102154
Gene: ENSMUSG00000050201
AA Change: Y125F

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139466
Meta Mutation Damage Score 0.0618 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.7%
Validation Efficiency 97% (105/108)
Allele List at MGI
Other mutations in this stock
Total: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G T 11: 109,847,901 (GRCm39) T798K possibly damaging Het
Abtb1 T C 6: 88,813,536 (GRCm39) T401A probably benign Het
Adsl G T 15: 80,846,943 (GRCm39) E70* probably null Het
Ahcyl2 A G 6: 29,768,583 (GRCm39) probably benign Het
Akr1a1 A G 4: 116,493,850 (GRCm39) V310A probably benign Het
Alpk3 T A 7: 80,726,679 (GRCm39) C121* probably null Het
Amph T A 13: 19,132,625 (GRCm39) I8N probably damaging Het
Ano2 G A 6: 125,840,420 (GRCm39) A364T probably damaging Het
Apbb2 T C 5: 66,557,520 (GRCm39) T314A probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atf7ip A G 6: 136,564,258 (GRCm39) T834A probably benign Het
Brca2 T G 5: 150,463,663 (GRCm39) D1142E probably benign Het
Brd10 T C 19: 29,693,814 (GRCm39) N1960S probably damaging Het
Cap2 A G 13: 46,768,823 (GRCm39) S210G probably benign Het
Capn2 C A 1: 182,300,525 (GRCm39) E596D possibly damaging Het
Cdc27 A T 11: 104,413,648 (GRCm39) S358R probably benign Het
Cdhr3 C T 12: 33,095,204 (GRCm39) G622S probably null Het
Clip2 A G 5: 134,532,081 (GRCm39) Y540H probably benign Het
Crhr1 A T 11: 104,023,898 (GRCm39) M1L probably benign Het
Csmd1 T C 8: 16,273,340 (GRCm39) T831A probably damaging Het
Cwc22 T C 2: 77,755,003 (GRCm39) probably benign Het
Cyp3a25 T A 5: 145,921,763 (GRCm39) K390N probably damaging Het
Cyp4a31 T C 4: 115,423,810 (GRCm39) probably null Het
Cytip A C 2: 58,024,158 (GRCm39) S221A probably benign Het
Dagla G A 19: 10,240,550 (GRCm39) R227C possibly damaging Het
Dhx57 A G 17: 80,560,514 (GRCm39) probably null Het
Dnah2 A T 11: 69,405,630 (GRCm39) D627E probably damaging Het
Dock8 A G 19: 25,138,422 (GRCm39) E1249G probably benign Het
Dpysl3 A G 18: 43,475,393 (GRCm39) V31A probably benign Het
Ecpas A G 4: 58,805,539 (GRCm39) probably null Het
Fan1 T C 7: 64,022,554 (GRCm39) N233S probably benign Het
Fras1 A T 5: 96,918,547 (GRCm39) I3528F probably damaging Het
Glipr1 T A 10: 111,832,765 (GRCm39) M58L possibly damaging Het
Gm10509 C T 17: 21,909,765 (GRCm39) P31S possibly damaging Het
Gm5070 T C 3: 95,318,355 (GRCm39) noncoding transcript Het
Gramd1a T C 7: 30,841,998 (GRCm39) N138S probably damaging Het
Grk5 T C 19: 61,078,410 (GRCm39) V489A probably damaging Het
Hmcn2 C T 2: 31,273,704 (GRCm39) S1352L probably damaging Het
Hoxa5 G A 6: 52,179,712 (GRCm39) T221I probably damaging Het
Hsd17b2 C A 8: 118,485,488 (GRCm39) P317Q possibly damaging Het
Ifi213 T A 1: 173,417,408 (GRCm39) S335C probably damaging Het
Izumo4 A T 10: 80,539,729 (GRCm39) D156V probably damaging Het
Khnyn A T 14: 56,123,309 (GRCm39) E21V probably damaging Het
Kmt2d C T 15: 98,759,661 (GRCm39) G1199E unknown Het
Lipk T C 19: 34,016,491 (GRCm39) W240R probably benign Het
Lpar5 A G 6: 125,058,378 (GRCm39) D33G possibly damaging Het
Lrp11 A G 10: 7,471,961 (GRCm39) D219G probably damaging Het
Lrrcc1 T C 3: 14,624,285 (GRCm39) probably benign Het
Man2a1 T C 17: 65,047,837 (GRCm39) C252R probably damaging Het
Map2k5 A G 9: 63,142,585 (GRCm39) F354L possibly damaging Het
Mlh3 T C 12: 85,312,919 (GRCm39) probably benign Het
Mmp28 A G 11: 83,335,045 (GRCm39) I331T probably damaging Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Myo3a A T 2: 22,345,091 (GRCm39) Y509F probably damaging Het
Nckap1 A G 2: 80,348,242 (GRCm39) S898P possibly damaging Het
Nectin1 T A 9: 43,702,374 (GRCm39) Y40* probably null Het
Neurl1a T A 19: 47,245,898 (GRCm39) V493E probably benign Het
Ntf3 A C 6: 126,079,209 (GRCm39) I99S probably benign Het
Or10ag53 T C 2: 87,083,054 (GRCm39) S258P possibly damaging Het
Or1l4 C G 2: 37,091,992 (GRCm39) H246Q probably damaging Het
Or1p1c A G 11: 74,161,066 (GRCm39) T284A probably benign Het
Or2ak5 A T 11: 58,611,133 (GRCm39) V247E probably damaging Het
Or2i1 A G 17: 37,507,722 (GRCm39) probably benign Het
Or2y1c T A 11: 49,361,795 (GRCm39) F272L probably benign Het
Or6k8-ps1 C T 1: 173,979,780 (GRCm39) R233C probably benign Het
Otof G A 5: 30,536,054 (GRCm39) T1343I probably benign Het
Pate3 G A 9: 35,557,401 (GRCm39) T85I probably benign Het
Pdpk1 A T 17: 24,317,150 (GRCm39) probably benign Het
Phf11d T C 14: 59,593,778 (GRCm39) H132R probably benign Het
Pik3c3 G A 18: 30,477,130 (GRCm39) probably null Het
Pkhd1 C A 1: 20,417,681 (GRCm39) G2490V probably damaging Het
Prkdc G A 16: 15,577,469 (GRCm39) D2372N probably damaging Het
Ptprq C T 10: 107,554,339 (GRCm39) E129K probably damaging Het
Pym1 G A 10: 128,601,913 (GRCm39) probably benign Het
Ralgapb T A 2: 158,334,372 (GRCm39) V1027E probably damaging Het
Rita1 T C 5: 120,747,645 (GRCm39) T218A possibly damaging Het
Rrh T A 3: 129,606,282 (GRCm39) T218S probably damaging Het
Scaper C T 9: 55,767,184 (GRCm39) A416T probably damaging Het
Scn3a A G 2: 65,314,716 (GRCm39) L1115P probably damaging Het
Serpinb6e A T 13: 34,017,217 (GRCm39) S268T probably damaging Het
Skic3 C A 13: 76,278,407 (GRCm39) H574N probably benign Het
Slc1a6 G A 10: 78,648,765 (GRCm39) W495* probably null Het
Slc32a1 A G 2: 158,453,298 (GRCm39) H46R probably benign Het
Slc37a1 C T 17: 31,519,405 (GRCm39) probably benign Het
Slc6a5 T A 7: 49,606,173 (GRCm39) W694R probably benign Het
Smarcd2 A T 11: 106,158,222 (GRCm39) D113E probably benign Het
Sod3 G T 5: 52,525,504 (GRCm39) V68L probably benign Het
Srpk3 G A X: 72,821,561 (GRCm39) R425Q possibly damaging Het
Sspo A T 6: 48,469,820 (GRCm39) Q4506L possibly damaging Het
Stam2 T A 2: 52,606,539 (GRCm39) E115D probably damaging Het
Sult1c2 A T 17: 54,280,953 (GRCm39) L50H probably damaging Het
Tbc1d22a T C 15: 86,119,770 (GRCm39) V22A possibly damaging Het
Togaram1 T G 12: 65,042,409 (GRCm39) V1156G probably damaging Het
Tpp1 T C 7: 105,398,854 (GRCm39) T192A probably benign Het
Ush1c A G 7: 45,859,325 (GRCm39) L498P probably damaging Het
Vit A C 17: 78,930,265 (GRCm39) Q410P probably benign Het
Vmn2r27 C T 6: 124,208,593 (GRCm39) G51S probably benign Het
Zfp341 A G 2: 154,488,054 (GRCm39) E839G possibly damaging Het
Zhx3 G A 2: 160,622,275 (GRCm39) L631F probably benign Het
Zmpste24 T C 4: 120,944,513 (GRCm39) E95G possibly damaging Het
Other mutations in Otop2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00671:Otop2 APN 11 115,222,735 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TTCCAGTGATCCACCCATGC -3'
(R):5'- GGGGTCATATGATCTCTACCACAG -3'

Sequencing Primer
(F):5'- AGTGATCCACCCATGCCCTATTC -3'
(R):5'- ATATGATCTCTACCACAGTCCAGTG -3'
Posted On 2014-06-23