Incidental Mutation 'R5681:Otop2'
ID 443058
Institutional Source Beutler Lab
Gene Symbol Otop2
Ensembl Gene ENSMUSG00000050201
Gene Name otopetrin 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5681 (G1)
Quality Score 211
Status Not validated
Chromosome 11
Chromosomal Location 115197989-115223129 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115217685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 174 (M174L)
Ref Sequence ENSEMBL: ENSMUSP00000102154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055490] [ENSMUST00000103037] [ENSMUST00000106544]
AlphaFold Q80SX5
Predicted Effect probably damaging
Transcript: ENSMUST00000055490
AA Change: M174L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000062109
Gene: ENSMUSG00000050201
AA Change: M174L

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 damaging
Transcript: ENSMUST00000106544
AA Change: M174L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102154
Gene: ENSMUSG00000050201
AA Change: M174L

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: 99.6%
  • 3x: 98.8%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl T C 2: 127,814,559 (GRCm39) F45S possibly damaging Het
Adora2b T A 11: 62,140,067 (GRCm39) V47E probably damaging Het
Amdhd2 A G 17: 24,375,014 (GRCm39) I396T probably damaging Het
Arhgap5 G A 12: 52,566,562 (GRCm39) D1178N probably benign Het
Atp10d T C 5: 72,404,289 (GRCm39) probably benign Het
Baiap3 A G 17: 25,468,347 (GRCm39) S264P probably damaging Het
Brinp3 A T 1: 146,777,484 (GRCm39) I644F probably benign Het
Ccdc168 A T 1: 44,100,624 (GRCm39) V158D possibly damaging Het
Ccdc66 T C 14: 27,208,698 (GRCm39) R675G probably benign Het
Cnr2 T G 4: 135,644,000 (GRCm39) M26R probably damaging Het
Col6a2 A T 10: 76,445,085 (GRCm39) probably null Het
Cux1 A G 5: 136,337,038 (GRCm39) W696R probably damaging Het
D6Ertd527e A G 6: 87,088,188 (GRCm39) N117S unknown Het
Dnah12 T C 14: 26,537,452 (GRCm39) C2234R probably benign Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Dock2 T G 11: 34,199,836 (GRCm39) I1405L probably benign Het
Dsg1c T C 18: 20,416,270 (GRCm39) F724L probably damaging Het
Elapor2 T A 5: 9,509,308 (GRCm39) probably null Het
Enoph1 T C 5: 100,210,136 (GRCm39) probably null Het
Epha10 A T 4: 124,796,359 (GRCm39) Q356L unknown Het
Fbln2 G T 6: 91,248,778 (GRCm39) V1148L probably damaging Het
Firrm T C 1: 163,789,654 (GRCm39) N627S probably damaging Het
Gp2 C T 7: 119,051,517 (GRCm39) V233M possibly damaging Het
Gtf2ird1 T A 5: 134,392,172 (GRCm39) S800C probably damaging Het
Hat1 A G 2: 71,264,553 (GRCm39) probably null Het
Hpdl A T 4: 116,678,039 (GRCm39) S141T probably benign Het
Klhl29 A G 12: 5,140,669 (GRCm39) S658P possibly damaging Het
Lifr T A 15: 7,220,565 (GRCm39) I1065N probably damaging Het
Lrrn2 G T 1: 132,864,899 (GRCm39) probably benign Het
Marchf9 T A 10: 126,894,172 (GRCm39) I144F probably benign Het
Mtnr1a A G 8: 45,540,974 (GRCm39) I312V possibly damaging Het
Ngf T A 3: 102,427,669 (GRCm39) F139L probably damaging Het
Nipbl T C 15: 8,330,866 (GRCm39) I2318V probably benign Het
Nkpd1 C T 7: 19,257,498 (GRCm39) Q276* probably null Het
Nphs1 A G 7: 30,186,050 (GRCm39) D1227G probably benign Het
Olfm3 C A 3: 114,915,924 (GRCm39) N285K probably benign Het
Or1j1 C A 2: 36,702,693 (GRCm39) S137I probably benign Het
Or4f60 T A 2: 111,902,722 (GRCm39) I69F probably benign Het
Or7g35 G A 9: 19,496,195 (GRCm39) D121N probably damaging Het
Or8b12i A G 9: 20,082,091 (GRCm39) Y259H probably damaging Het
Or8b39 C T 9: 37,996,927 (GRCm39) S265F possibly damaging Het
Osbp2 A G 11: 3,813,486 (GRCm39) S128P probably benign Het
Pard3 A G 8: 128,115,914 (GRCm39) T668A possibly damaging Het
Pkhd1 T C 1: 20,617,685 (GRCm39) T967A possibly damaging Het
Pls1 A G 9: 95,669,065 (GRCm39) V52A probably damaging Het
Ptcd3 T C 6: 71,884,643 (GRCm39) K64R probably damaging Het
Pxn T C 5: 115,682,593 (GRCm39) W69R possibly damaging Het
Rai14 T C 15: 10,575,206 (GRCm39) D584G probably damaging Het
Safb G A 17: 56,906,000 (GRCm39) probably benign Het
Serinc2 A C 4: 130,158,869 (GRCm39) L10R probably damaging Het
Serpinb12 A T 1: 106,874,431 (GRCm39) H52L probably benign Het
Serpinb9h G A 13: 33,579,812 (GRCm39) C20Y probably damaging Het
Serpinf2 A G 11: 75,326,765 (GRCm39) Y273H probably damaging Het
Slc2a10 T A 2: 165,356,660 (GRCm39) S107T probably benign Het
Slc41a3 T C 6: 90,617,928 (GRCm39) L318P probably damaging Het
Slc6a3 A T 13: 73,686,854 (GRCm39) I74F probably damaging Het
Snrnp200 G A 2: 127,067,055 (GRCm39) G788D probably damaging Het
Snx7 A G 3: 117,640,272 (GRCm39) I79T probably benign Het
Sox11 G T 12: 27,391,823 (GRCm39) D195E probably benign Het
Ssc4d A G 5: 135,999,074 (GRCm39) L43P probably damaging Het
Tab2 A G 10: 7,795,837 (GRCm39) I215T probably damaging Het
Ttn C T 2: 76,660,942 (GRCm39) V7422I possibly damaging Het
Unc13c A T 9: 73,453,357 (GRCm39) probably null Het
Wdr17 T C 8: 55,115,904 (GRCm39) D633G probably damaging Het
Wdsub1 A T 2: 59,683,239 (GRCm39) M445K probably damaging Het
Xpc A G 6: 91,481,102 (GRCm39) F257L 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
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'- ACTGGGCTGAGTCTTGCTTC -3'
(R):5'- CTGGCAAGGATATGGTTGACTGAC -3'

Sequencing Primer
(F):5'- GAGTCTTGCTTCCAAGTTCAACG -3'
(R):5'- TGACTGACTATGAATACACAAAGCG -3'
Posted On 2016-11-09