Incidental Mutation 'R1765:Otop2'
ID 194309
Institutional Source Beutler Lab
Gene Symbol Otop2
Ensembl Gene ENSMUSG00000050201
Gene Name otopetrin 2
Synonyms
MMRRC Submission 039797-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1765 (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 115215504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 142 (I142F)
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: I142F

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000062109
Gene: ENSMUSG00000050201
AA Change: I142F

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: I142F

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000102154
Gene: ENSMUSG00000050201
AA Change: I142F

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 0.0977 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.8%
Validation Efficiency 99% (90/91)
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik G T 15: 59,887,194 (GRCm39) C415* probably null Het
Adamtsl2 A C 2: 26,992,842 (GRCm39) I652L probably benign Het
Adgrl4 T C 3: 151,248,872 (GRCm39) I720T probably damaging Het
Agrn A T 4: 156,261,284 (GRCm39) C604* probably null Het
Amh AGCGCCTTGG AG 10: 80,641,419 (GRCm39) probably null Het
B3galt2 C A 1: 143,522,207 (GRCm39) N114K probably benign Het
Bud23 A T 5: 135,084,897 (GRCm39) M59K probably benign Het
C3 C T 17: 57,531,401 (GRCm39) probably null Het
C9orf72 A C 4: 35,197,098 (GRCm39) H322Q probably damaging Het
Cc2d2a A T 5: 43,871,873 (GRCm39) D903V probably damaging Het
Ccdc9b G A 2: 118,591,128 (GRCm39) A135V probably benign Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdan1 A C 2: 120,551,230 (GRCm39) L1097V probably damaging Het
Cdc26 T A 4: 62,313,155 (GRCm39) N62I probably benign Het
Cdc27 G T 11: 104,425,607 (GRCm39) Q70K probably damaging Het
Cenpq A T 17: 41,235,178 (GRCm39) probably null Het
Cep295 T C 9: 15,239,200 (GRCm39) S1858G probably damaging Het
Clasp1 T C 1: 118,433,261 (GRCm39) S247P probably damaging Het
Cyp2w1 C T 5: 139,339,623 (GRCm39) T71I probably damaging Het
Dcaf1 T C 9: 106,741,793 (GRCm39) F1336S probably damaging Het
Dennd6b G A 15: 89,074,506 (GRCm39) Q104* probably null Het
Dglucy T A 12: 100,816,361 (GRCm39) probably null Het
Dnajc9 A G 14: 20,438,158 (GRCm39) V148A possibly damaging Het
Dnmbp T A 19: 43,890,579 (GRCm39) D396V possibly damaging Het
Dock10 T A 1: 80,583,540 (GRCm39) I221F probably damaging Het
Dscam T C 16: 96,486,579 (GRCm39) N1032S probably benign Het
Dsg4 A C 18: 20,589,888 (GRCm39) Y346S probably benign Het
Dync1i2 A G 2: 71,079,759 (GRCm39) H417R probably benign Het
Dysf G A 6: 84,167,884 (GRCm39) probably null Het
Elovl1 A G 4: 118,287,707 (GRCm39) M1V probably null Het
Eva1c A G 16: 90,701,135 (GRCm39) S257G probably benign Het
Eya2 A T 2: 165,566,723 (GRCm39) D258V probably damaging Het
Fam193a A G 5: 34,593,841 (GRCm39) T113A probably damaging Het
Fbxw15 G A 9: 109,387,314 (GRCm39) S227F probably damaging Het
Fstl5 G T 3: 76,500,783 (GRCm39) R404L possibly damaging Het
Glud1 T C 14: 34,047,541 (GRCm39) probably benign Het
Gm10770 A C 2: 150,021,258 (GRCm39) H86Q probably damaging Het
Gzme C T 14: 56,355,871 (GRCm39) G147D probably damaging Het
Herc3 T C 6: 58,865,645 (GRCm39) V746A probably damaging Het
Hmga1 A G 17: 27,778,592 (GRCm39) E17G probably damaging Het
Kdelr2 A T 5: 143,406,567 (GRCm39) K206* probably null Het
Kng2 A G 16: 22,806,993 (GRCm39) probably null Het
Lrrc41 G A 4: 115,946,248 (GRCm39) R321H possibly damaging Het
Mapkapk2 A T 1: 130,986,498 (GRCm39) M1K probably null Het
Me2 A G 18: 73,924,929 (GRCm39) F263L probably damaging Het
Mkks A G 2: 136,722,287 (GRCm39) L290P probably damaging Het
Mmp12 T A 9: 7,354,772 (GRCm39) I255N probably damaging Het
Mogs A G 6: 83,093,784 (GRCm39) D251G probably benign Het
Morf4l1 T A 9: 89,984,401 (GRCm39) Y65F possibly damaging Het
Neb T C 2: 52,094,676 (GRCm39) D5169G probably damaging Het
Nin A G 12: 70,089,665 (GRCm39) L1250P probably damaging Het
Nomo1 G T 7: 45,715,717 (GRCm39) G721V possibly damaging Het
Notch2 T G 3: 98,029,242 (GRCm39) C1002G probably damaging Het
Npat T C 9: 53,481,522 (GRCm39) Y1077H probably benign Het
Or1e1c T A 11: 73,266,170 (GRCm39) N198K probably damaging Het
Or4g17 G A 2: 111,209,491 (GRCm39) V49I probably benign Het
Or4p21 A T 2: 88,276,367 (GRCm39) F305Y probably damaging Het
Or5h25 A G 16: 58,930,118 (GRCm39) L285P probably damaging Het
Or8c16 T C 9: 38,130,548 (GRCm39) I143T probably benign Het
Pacsin3 A G 2: 91,093,460 (GRCm39) E279G possibly damaging Het
Pafah2 A G 4: 134,140,758 (GRCm39) T243A probably benign Het
Pcdhgc5 A G 18: 37,954,913 (GRCm39) H729R probably benign Het
Plcd1 T C 9: 118,900,874 (GRCm39) D756G probably damaging Het
Prune2 A G 19: 17,102,962 (GRCm39) E2707G probably damaging Het
Rit2 C T 18: 31,449,951 (GRCm39) G16S probably damaging Het
Sec24c A G 14: 20,738,922 (GRCm39) probably benign Het
Skint5 G T 4: 113,434,858 (GRCm39) T1037K unknown Het
Slc28a2 T A 2: 122,290,876 (GRCm39) probably null Het
Slc41a2 G A 10: 83,137,130 (GRCm39) A259V probably damaging Het
Slc6a17 T A 3: 107,380,895 (GRCm39) I537F possibly damaging Het
Slco1a7 T C 6: 141,700,084 (GRCm39) probably benign Het
Smchd1 A T 17: 71,707,196 (GRCm39) probably benign Het
Smg1 T C 7: 117,738,938 (GRCm39) I3489V probably benign Het
Sytl3 T C 17: 6,967,082 (GRCm39) L142P probably damaging Het
Tektl1 A T 10: 78,584,502 (GRCm39) M340K probably benign Het
Tfr2 C T 5: 137,581,707 (GRCm39) T598I probably damaging Het
Tmc2 A G 2: 130,102,145 (GRCm39) Q770R probably benign Het
Tnc C T 4: 63,932,231 (GRCm39) V728M probably damaging Het
Trim68 A T 7: 102,329,597 (GRCm39) M177K possibly damaging Het
Trmt11 T C 10: 30,435,184 (GRCm39) D325G probably benign Het
Ube3a C T 7: 58,935,862 (GRCm39) T582I probably damaging Het
Usp13 G A 3: 32,969,919 (GRCm39) E682K probably benign Het
Usp9y A G Y: 1,384,454 (GRCm39) V688A possibly damaging Het
Uts2r A G 11: 121,052,095 (GRCm39) T320A possibly damaging Het
Vmn1r34 A T 6: 66,614,480 (GRCm39) M86K probably damaging Het
Vsig10 A G 5: 117,456,880 (GRCm39) probably benign Het
Zbtb41 T A 1: 139,368,132 (GRCm39) C607S probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CTTTCAGACATACAGTCGCCCATCC -3'
(R):5'- TGATCTCTACCACAGTCCAGTGCC -3'

Sequencing Primer
(F):5'- cccatccatccatccatcc -3'
(R):5'- CAGTGCCATTTGCTGAATTGC -3'
Posted On 2014-05-23