Incidental Mutation 'R6738:Otop2'
ID 530322
Institutional Source Beutler Lab
Gene Symbol Otop2
Ensembl Gene ENSMUSG00000050201
Gene Name otopetrin 2
Synonyms
MMRRC Submission 044856-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6738 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 115197989-115223129 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115220318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 386 (Y386C)
Ref Sequence ENSEMBL: ENSMUSP00000102154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055490] [ENSMUST00000106544]
AlphaFold Q80SX5
Predicted Effect probably damaging
Transcript: ENSMUST00000055490
AA Change: Y386C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062109
Gene: ENSMUSG00000050201
AA Change: Y386C

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 damaging
Transcript: ENSMUST00000106544
AA Change: Y386C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102154
Gene: ENSMUSG00000050201
AA Change: Y386C

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
Meta Mutation Damage Score 0.4859 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C T 16: 8,420,300 (GRCm39) probably benign Het
Abl1 T C 2: 31,684,586 (GRCm39) Y454H probably damaging Het
Ambp A T 4: 63,067,711 (GRCm39) D166E probably benign Het
Amigo2 A G 15: 97,143,345 (GRCm39) V359A possibly damaging Het
Ankrd11 A T 8: 123,618,660 (GRCm39) S1710T probably damaging Het
Ankrd31 T C 13: 97,040,635 (GRCm39) S1713P possibly damaging Het
Arhgap45 A T 10: 79,863,431 (GRCm39) K758M probably damaging Het
Bclaf1 T C 10: 20,199,515 (GRCm39) I304T possibly damaging Het
C1ra A G 6: 124,494,718 (GRCm39) Y327C probably damaging Het
Ccdc73 C T 2: 104,822,433 (GRCm39) S794L probably benign Het
Cd24a A G 10: 43,458,672 (GRCm39) N48D possibly damaging Het
Col11a1 A G 3: 113,906,116 (GRCm39) probably benign Het
Cyp11b2 G A 15: 74,725,363 (GRCm39) T252I possibly damaging Het
Dlx2 A G 2: 71,376,406 (GRCm39) Y111H probably benign Het
Dsp T C 13: 38,376,186 (GRCm39) S1324P possibly damaging Het
Esyt3 A T 9: 99,202,346 (GRCm39) F522I probably damaging Het
Fam193b C T 13: 55,698,174 (GRCm39) A45T probably benign Het
Flnb A G 14: 7,904,536 (GRCm38) T980A probably benign Het
Gabrb2 G T 11: 42,484,758 (GRCm39) A272S possibly damaging Het
H2al2a G T 2: 18,001,429 (GRCm39) Q86K possibly damaging Het
Ikbkb T G 8: 23,165,052 (GRCm39) I243L probably damaging Het
Il18r1 A G 1: 40,537,816 (GRCm39) E527G probably benign Het
Krt35 A T 11: 99,984,535 (GRCm39) V320D probably damaging Het
Krt76 C T 15: 101,795,913 (GRCm39) R419H probably benign Het
Lrp2 T A 2: 69,288,832 (GRCm39) Y3678F probably damaging Het
Mab21l4 G A 1: 93,087,707 (GRCm39) L49F probably benign Het
Mnat1 T G 12: 73,319,246 (GRCm39) S290A probably benign Het
Mptx2 T C 1: 173,102,422 (GRCm39) E89G probably benign Het
Myom1 T A 17: 71,407,393 (GRCm39) probably null Het
Naaladl2 A G 3: 24,225,806 (GRCm39) V541A probably benign Het
Nbeal2 T C 9: 110,465,973 (GRCm39) T851A possibly damaging Het
Ncoa4 A G 14: 31,892,750 (GRCm39) Y11C probably benign Het
Ntn5 T A 7: 45,343,780 (GRCm39) probably null Het
Or10d4c A G 9: 39,557,957 (GRCm39) probably benign Het
Or1j18 C T 2: 36,624,444 (GRCm39) T37I probably benign Het
Ppp2r1a T A 17: 21,174,979 (GRCm39) probably null Het
Prkd2 C A 7: 16,599,830 (GRCm39) N764K possibly damaging Het
Ralgapa1 A G 12: 55,809,512 (GRCm39) L421S probably damaging Het
Ric3 G A 7: 108,647,269 (GRCm39) R184* probably null Het
Sfswap A G 5: 129,618,505 (GRCm39) K480E probably damaging Het
Siah2 A G 3: 58,598,974 (GRCm39) V88A probably benign Het
Slc22a16 T C 10: 40,461,298 (GRCm39) F367L probably damaging Het
Slc23a2 T C 2: 131,920,356 (GRCm39) D183G probably benign Het
Svep1 T C 4: 58,123,180 (GRCm39) N712S possibly damaging Het
Tex21 A G 12: 76,286,283 (GRCm39) V72A probably benign Het
Tfap4 A G 16: 4,367,311 (GRCm39) Y184H probably damaging Het
Timeless T C 10: 128,076,504 (GRCm39) Y138H probably damaging Het
Tln2 A T 9: 67,293,946 (GRCm39) N227K possibly damaging Het
Trip10 C T 17: 57,563,899 (GRCm39) P342S probably benign Het
Ttc6 A T 12: 57,735,426 (GRCm39) E1156V probably damaging Het
Ttn T C 2: 76,728,472 (GRCm39) probably benign Het
Vmn2r109 G A 17: 20,774,785 (GRCm39) S190L possibly damaging Het
Wdr54 A G 6: 83,132,109 (GRCm39) S99P probably damaging Het
Ythdf2 A C 4: 131,932,272 (GRCm39) I296R probably benign Het
Zfp445 A G 9: 122,691,123 (GRCm39) V24A probably 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
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
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'- CCTTTATGAGGTCCAGGTGAG -3'
(R):5'- CCAGGTTAGCAAAGGTGATGC -3'

Sequencing Primer
(F):5'- AGGCCCTGGTCATCTACTACAG -3'
(R):5'- CCTTGGCAGGGCTCCTTG -3'
Posted On 2018-08-01