Incidental Mutation 'R4184:Otop2'
ID 319878
Institutional Source Beutler Lab
Gene Symbol Otop2
Ensembl Gene ENSMUSG00000050201
Gene Name otopetrin 2
Synonyms
MMRRC Submission 041020-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4184 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 115197989-115223129 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115220671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 504 (C504S)
Ref Sequence ENSEMBL: ENSMUSP00000102154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019006] [ENSMUST00000055490] [ENSMUST00000106543] [ENSMUST00000106544]
AlphaFold Q80SX5
Predicted Effect probably benign
Transcript: ENSMUST00000019006
SMART Domains Protein: ENSMUSP00000019006
Gene: ENSMUSG00000018862

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
transmembrane domain 70 92 N/A INTRINSIC
transmembrane domain 102 120 N/A INTRINSIC
Pfam:Otopetrin 142 483 3e-40 PFAM
Pfam:Otopetrin 506 583 1.2e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000055490
AA Change: C504S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000062109
Gene: ENSMUSG00000050201
AA Change: C504S

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: ENSMUST00000106543
SMART Domains Protein: ENSMUSP00000102153
Gene: ENSMUSG00000018862

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
transmembrane domain 70 92 N/A INTRINSIC
transmembrane domain 102 120 N/A INTRINSIC
transmembrane domain 141 163 N/A INTRINSIC
transmembrane domain 178 195 N/A INTRINSIC
transmembrane domain 208 227 N/A INTRINSIC
Pfam:Otopetrin 241 462 2.1e-20 PFAM
Pfam:Otopetrin 487 564 2.2e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106544
AA Change: C504S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000102154
Gene: ENSMUSG00000050201
AA Change: C504S

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 0.3402 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 95% (55/58)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 A T 7: 143,447,858 (GRCm39) K234* probably null Het
Ccdc178 A G 18: 22,157,841 (GRCm39) L539P probably damaging Het
Cd5 T A 19: 10,698,638 (GRCm39) N423I probably damaging Het
Ceacam20 C T 7: 19,710,041 (GRCm39) T355I probably damaging Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Cln8 T C 8: 14,945,030 (GRCm39) F115L probably benign Het
Cpne9 T A 6: 113,259,418 (GRCm39) probably benign Het
Cyp4a32 C T 4: 115,478,720 (GRCm39) T484I possibly damaging Het
Des C G 1: 75,339,228 (GRCm39) A251G probably benign Het
Dnah3 T C 7: 119,682,516 (GRCm39) D270G probably damaging Het
Epc1 T C 18: 6,453,578 (GRCm39) E249G possibly damaging Het
Fsbp T A 4: 11,584,058 (GRCm39) N252K probably benign Het
Gramd1a C A 7: 30,831,940 (GRCm39) probably benign Het
Grsf1 G A 5: 88,812,015 (GRCm39) P271S probably benign Het
Igsf10 C T 3: 59,227,152 (GRCm39) V2174M probably damaging Het
Kcnu1 T C 8: 26,352,445 (GRCm39) L204P probably damaging Het
Kdm7a T C 6: 39,125,911 (GRCm39) E628G probably benign Het
Klhl36 T C 8: 120,601,124 (GRCm39) M381T probably damaging Het
Kpna3 A T 14: 61,605,624 (GRCm39) Y474N probably damaging Het
Lsm8 G T 6: 18,849,604 (GRCm39) probably benign Het
Mapk8 T C 14: 33,104,177 (GRCm39) D413G probably damaging Het
Mbd2 T A 18: 70,751,050 (GRCm39) C362S probably damaging Het
Mex3b A G 7: 82,519,238 (GRCm39) R518G probably benign Het
Mical1 T C 10: 41,357,866 (GRCm39) probably benign Het
Myo18a T C 11: 77,748,613 (GRCm39) S1996P probably damaging Het
Or11g7 A G 14: 50,690,827 (GRCm39) Y106C probably damaging Het
Or11h4b C G 14: 50,918,507 (GRCm39) E195Q probably benign Het
Or1o2 T G 17: 37,542,739 (GRCm39) H174P possibly damaging Het
Pkhd1 T A 1: 20,279,501 (GRCm39) H2939L probably benign Het
Pkhd1 C T 1: 20,633,910 (GRCm39) V542M probably benign Het
Pkhd1l1 C T 15: 44,455,302 (GRCm39) T4021I probably benign Het
Prr36 T C 8: 4,263,409 (GRCm39) probably benign Het
Ptchd4 A T 17: 42,813,650 (GRCm39) Y517F probably damaging Het
Pth1r A G 9: 110,571,300 (GRCm39) M1T probably null Het
Rdx C A 9: 51,978,680 (GRCm39) L163M probably damaging Het
Reep6 A G 10: 80,169,648 (GRCm39) Y112C probably damaging Het
Rpp21 A G 17: 36,568,611 (GRCm39) probably benign Het
Sacs T A 14: 61,451,393 (GRCm39) C4480S probably damaging Het
Slc15a1 G A 14: 121,703,574 (GRCm39) T512I probably benign Het
Slc22a22 A T 15: 57,119,962 (GRCm39) C170* probably null Het
Slc26a2 C T 18: 61,331,904 (GRCm39) R509K probably benign Het
Slc4a10 A G 2: 62,147,786 (GRCm39) probably benign Het
Stc1 A T 14: 69,266,834 (GRCm39) probably benign Het
Tbc1d32 T A 10: 56,100,676 (GRCm39) T101S probably benign Het
Tsc2 T C 17: 24,850,990 (GRCm39) T23A probably benign Het
Vmn1r52 T G 6: 90,156,219 (GRCm39) F174L probably benign Het
Zfp972 G A 2: 177,563,250 (GRCm39) Q56* probably null Het
Zfp982 A G 4: 147,597,150 (GRCm39) K169R probably benign Het
Zfpl1 A G 19: 6,131,170 (GRCm39) L274P 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
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'- ATCATTGAGAGCCTCCATCGG -3'
(R):5'- TGCTGTGTGCCTAGAAGCTAC -3'

Sequencing Primer
(F):5'- TGAGCCTCGTGAAATGCC -3'
(R):5'- GTGTGCCTAGAAGCTACAATTGTCC -3'
Posted On 2015-06-10