Incidental Mutation 'R1209:Otop2'
ID 100609
Institutional Source Beutler Lab
Gene Symbol Otop2
Ensembl Gene ENSMUSG00000050201
Gene Name otopetrin 2
Synonyms
MMRRC Submission 039278-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1209 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 115197989-115223129 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115215469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 130 (E130G)
Ref Sequence ENSEMBL: ENSMUSP00000102154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055490] [ENSMUST00000103037] [ENSMUST00000106544]
AlphaFold Q80SX5
Predicted Effect possibly damaging
Transcript: ENSMUST00000055490
AA Change: E130G

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000062109
Gene: ENSMUSG00000050201
AA Change: E130G

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 possibly damaging
Transcript: ENSMUST00000106544
AA Change: E130G

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102154
Gene: ENSMUSG00000050201
AA Change: E130G

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.8%
  • 10x: 94.2%
  • 20x: 85.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 A G 10: 20,839,629 (GRCm39) D180G probably damaging Het
Aopep A G 13: 63,338,878 (GRCm39) probably null Het
Banp G A 8: 122,702,656 (GRCm39) V30I possibly damaging Het
Btn2a2 C T 13: 23,664,736 (GRCm39) probably null Het
Cdh15 G C 8: 123,584,234 (GRCm39) E112Q probably damaging Het
Cdhr1 C T 14: 36,804,899 (GRCm39) probably null Het
Cfap44 T C 16: 44,242,780 (GRCm39) I728T possibly damaging Het
Fbn2 A G 18: 58,203,088 (GRCm39) M1212T probably benign Het
Fmo3 C T 1: 162,791,597 (GRCm39) D227N probably benign Het
Klk1b5 G T 7: 43,496,422 (GRCm39) R118L probably damaging Het
Krtap4-1 A G 11: 99,518,983 (GRCm39) V9A unknown Het
Muc5b A G 7: 141,411,647 (GRCm39) N1531S unknown Het
Mypn A G 10: 62,954,278 (GRCm39) S1234P probably damaging Het
Nme5 A G 18: 34,702,949 (GRCm39) L113S probably damaging Het
Oprk1 T C 1: 5,672,484 (GRCm39) V207A probably benign Het
Or13a20 A G 7: 140,231,927 (GRCm39) T12A probably benign Het
Or4f52 T C 2: 111,061,958 (GRCm39) Y60C probably damaging Het
Pard6a A G 8: 106,429,023 (GRCm39) K78R probably benign Het
Pbrm1 T A 14: 30,840,809 (GRCm39) L1637H probably damaging Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Rnaset2b T A 17: 7,246,475 (GRCm39) C27S probably benign Het
Rps24 A G 14: 24,541,830 (GRCm39) T6A probably damaging Het
Speer4a1 T C 5: 26,240,123 (GRCm39) probably null Het
Srsf4 A G 4: 131,628,370 (GRCm39) probably benign Het
Syt11 G A 3: 88,655,147 (GRCm39) R79C probably damaging Het
Tbx3 T C 5: 119,819,018 (GRCm39) V531A probably benign Het
Tmem132d T A 5: 127,861,934 (GRCm39) D729V probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S 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
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
Predicted Primers PCR Primer
(F):5'- CTTTCAGACATACAGTCGCCCATCC -3'
(R):5'- CCAGTGCCATTTGCTGAATTGCTC -3'

Sequencing Primer
(F):5'- cccatccatccatccatcc -3'
(R):5'- TGCTGAATTGCTCAGGGATG -3'
Posted On 2014-01-15