Incidental Mutation 'R6975:Otop2'
ID 542430
Institutional Source Beutler Lab
Gene Symbol Otop2
Ensembl Gene ENSMUSG00000050201
Gene Name otopetrin 2
Synonyms
MMRRC Submission 045085-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6975 (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 T at 115220152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 331 (S331C)
Ref Sequence ENSEMBL: ENSMUSP00000102154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055490] [ENSMUST00000106544]
AlphaFold Q80SX5
Predicted Effect possibly damaging
Transcript: ENSMUST00000055490
AA Change: S331C

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000062109
Gene: ENSMUSG00000050201
AA Change: S331C

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 possibly damaging
Transcript: ENSMUST00000106544
AA Change: S331C

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102154
Gene: ENSMUSG00000050201
AA Change: S331C

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.9%
Validation Efficiency 100% (46/46)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,056,687 (GRCm39) H100L probably benign Het
Apaf1 A T 10: 90,856,596 (GRCm39) H870Q probably damaging Het
Aplf T C 6: 87,623,068 (GRCm39) D358G probably damaging Het
Atp10a A T 7: 58,423,733 (GRCm39) S233C probably damaging Het
Ccdc158 A T 5: 92,814,579 (GRCm39) Y82* probably null Het
Clba1 C T 12: 112,773,217 (GRCm39) P70L possibly damaging Het
Cubn T C 2: 13,491,600 (GRCm39) D149G probably damaging Het
Cyp4f14 T C 17: 33,133,608 (GRCm39) T83A probably benign Het
Endog A G 2: 30,061,648 (GRCm39) probably benign Het
Extl3 T C 14: 65,304,246 (GRCm39) E721G probably benign Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Gcn1 A G 5: 115,751,518 (GRCm39) H2033R probably damaging Het
Gm12830 T C 4: 114,702,246 (GRCm39) M136T Het
Gm6871 T C 7: 41,196,202 (GRCm39) silent Het
Hoxc4 T C 15: 102,944,098 (GRCm39) S159P probably damaging Het
Ift70a2 T C 2: 75,806,752 (GRCm39) R587G probably damaging Het
Ift70a2 A T 2: 75,808,004 (GRCm39) Y169* probably null Het
Igf2bp2 T A 16: 21,880,611 (GRCm39) Q494L probably null Het
Igfn1 T A 1: 135,896,183 (GRCm39) N1461I probably damaging Het
Il23r C A 6: 67,400,352 (GRCm39) K659N probably damaging Het
Map3k11 A G 19: 5,740,755 (GRCm39) S161G possibly damaging Het
Naip6 T A 13: 100,452,773 (GRCm39) Q96L probably damaging Het
Nup133 T C 8: 124,642,057 (GRCm39) E802G probably damaging Het
Nutm1 G A 2: 112,086,563 (GRCm39) S56F probably damaging Het
Or10x4 T A 1: 174,219,243 (GRCm39) S203T probably benign Het
Or51a24 T C 7: 103,734,002 (GRCm39) N95S probably benign Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Pkd1l3 A G 8: 110,387,539 (GRCm39) R1818G possibly damaging Het
Pms1 A T 1: 53,228,590 (GRCm39) I886N probably damaging Het
Pnpla6 A G 8: 3,588,068 (GRCm39) Y1107C probably damaging Het
Ppp3ca A G 3: 136,611,062 (GRCm39) T362A probably damaging Het
Rarb A G 14: 16,574,942 (GRCm38) S25P possibly damaging Het
Rnf121 A T 7: 101,673,218 (GRCm39) probably null Het
Sae1 T C 7: 16,070,712 (GRCm39) Y266C probably damaging Het
Scpep1 A T 11: 88,838,031 (GRCm39) F85L probably damaging Het
Shank1 T A 7: 43,962,530 (GRCm39) probably null Het
Slc40a1 T C 1: 45,948,652 (GRCm39) K543E probably benign Het
Slc9a9 A G 9: 94,842,499 (GRCm39) Y350C probably damaging Het
Sun2 G T 15: 79,618,420 (GRCm39) Y246* probably null Het
Tas1r2 T A 4: 139,397,031 (GRCm39) I790N probably damaging Het
Tmtc2 T C 10: 105,158,863 (GRCm39) T577A probably benign Het
Trim24 T G 6: 37,896,427 (GRCm39) probably null Het
Ttc12 A G 9: 49,349,718 (GRCm39) V693A probably benign Het
Zbtb22 A C 17: 34,136,938 (GRCm39) D361A probably damaging Het
Zfp276 T A 8: 123,983,570 (GRCm39) C324* probably null Het
Zfp536 A G 7: 37,267,952 (GRCm39) L488P 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
R6738:Otop2 UTSW 11 115,220,318 (GRCm39) missense probably damaging 1.00
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'- CCATGCTGTATGTCATGTGGAAG -3'
(R):5'- CCACAGCCACGATAGAGTAG -3'

Sequencing Primer
(F):5'- AATGTGGGAAGGCTGCTC -3'
(R):5'- TAGTAGGAGATAGCGTATTGGCCC -3'
Posted On 2018-11-28