Incidental Mutation 'R2352:Otop2'
ID 246219
Institutional Source Beutler Lab
Gene Symbol Otop2
Ensembl Gene ENSMUSG00000050201
Gene Name otopetrin 2
Synonyms
MMRRC Submission 040334-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2352 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 115197989-115223129 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115219927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 256 (S256P)
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: S256P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062109
Gene: ENSMUSG00000050201
AA Change: S256P

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: S256P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102154
Gene: ENSMUSG00000050201
AA Change: S256P

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd28 C T 14: 31,432,904 (GRCm39) V548I probably benign Het
Aspm T C 1: 139,385,300 (GRCm39) S315P probably benign Het
Caln1 G T 5: 130,534,993 (GRCm39) E70* probably null Het
Cd69 A T 6: 129,246,567 (GRCm39) W114R probably damaging Het
Cnbd2 T C 2: 156,177,275 (GRCm39) Y90H probably damaging Het
Crebrf C T 17: 26,961,320 (GRCm39) S147F probably damaging Het
Cts7 A T 13: 61,500,586 (GRCm39) C320* probably null Het
Dgat1 T C 15: 76,386,513 (GRCm39) I474V possibly damaging Het
Dmxl2 T A 9: 54,301,146 (GRCm39) I2322F probably damaging Het
Dnah11 A T 12: 117,892,065 (GRCm39) F3703I probably damaging Het
Foxb2 A G 19: 16,850,433 (GRCm39) L191P unknown Het
Gli3 A T 13: 15,836,977 (GRCm39) E453D probably benign Het
Gnl3 C T 14: 30,738,783 (GRCm39) probably null Het
Golgb1 A T 16: 36,718,921 (GRCm39) T276S probably damaging Het
Grk4 T C 5: 34,826,520 (GRCm39) M40T probably benign Het
Hoxb1 A G 11: 96,257,203 (GRCm39) N184S possibly damaging Het
Insr G T 8: 3,242,593 (GRCm39) T42N probably damaging Het
Iqgap3 A G 3: 88,011,815 (GRCm39) K836E possibly damaging Het
Kremen1 CGGG CGGGGGG 11: 5,151,791 (GRCm39) probably benign Het
Leng9 T A 7: 4,152,409 (GRCm39) E89V probably damaging Het
Lhcgr C T 17: 89,049,727 (GRCm39) V600I possibly damaging Het
Lima1 T C 15: 99,692,396 (GRCm39) N183S probably benign Het
Lmtk2 A G 5: 144,110,729 (GRCm39) D483G probably benign Het
Lpcat2b T G 5: 107,581,307 (GRCm39) L212R probably damaging Het
Lrrc61 A T 6: 48,545,806 (GRCm39) I210F probably benign Het
Lypd8l G A 11: 58,502,934 (GRCm39) Q72* probably null Het
Lypd8l A T 11: 58,503,676 (GRCm39) L10H probably damaging Het
Med12l C T 3: 59,148,113 (GRCm39) L977F probably damaging Het
Mical1 A T 10: 41,358,229 (GRCm39) D414V probably benign Het
Mmp14 C T 14: 54,678,002 (GRCm39) A541V probably benign Het
Mtmr10 A G 7: 63,947,328 (GRCm39) D81G possibly damaging Het
Myh1 G A 11: 67,111,363 (GRCm39) V1601M probably benign Het
Myo16 G A 8: 10,644,905 (GRCm39) D1746N possibly damaging Het
Neb T C 2: 52,177,348 (GRCm39) Y1331C probably damaging Het
Prl8a1 A G 13: 27,759,572 (GRCm39) L155P probably damaging Het
Rrp1b A T 17: 32,278,302 (GRCm39) M658L possibly damaging Het
Sema4b C A 7: 79,870,627 (GRCm39) A525D probably damaging Het
Slc13a5 T A 11: 72,143,147 (GRCm39) I369F probably benign Het
Slc22a18 T C 7: 143,051,152 (GRCm39) S344P probably benign Het
Slc25a4 A C 8: 46,662,212 (GRCm39) S149A probably benign Het
Smc2 A T 4: 52,460,266 (GRCm39) E547D probably benign Het
Stx8 A G 11: 67,864,077 (GRCm39) T46A probably benign Het
Tacr3 T C 3: 134,560,631 (GRCm39) V190A probably benign Het
Tdrkh A T 3: 94,336,467 (GRCm39) K468M possibly damaging Het
Tmem145 T C 7: 25,005,598 (GRCm39) S4P probably benign Het
Tmem74 A G 15: 43,730,506 (GRCm39) I179T probably damaging Het
Vmn1r222 A C 13: 23,416,683 (GRCm39) W177G probably benign Het
Zfp426 T C 9: 20,381,401 (GRCm39) I529V probably benign Het
Zfp462 A G 4: 55,008,313 (GRCm39) Y93C probably null Het
Zfyve26 G A 12: 79,330,890 (GRCm39) T443I probably damaging Het
Zkscan16 A C 4: 58,951,869 (GRCm39) R181S 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
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
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'- TTTGGGCTGGCAGAAAGAACC -3'
(R):5'- TAGTAGATGACCAGGGCCTG -3'

Sequencing Primer
(F):5'- CTGGCAGAAAGAACCCCTGG -3'
(R):5'- TCGGGTGTGGCCTCTCTC -3'
Posted On 2014-10-30