Incidental Mutation 'R2849:Otop3'
ID 252007
Institutional Source Beutler Lab
Gene Symbol Otop3
Ensembl Gene ENSMUSG00000018862
Gene Name otopetrin 3
Synonyms 2310011E08Rik
MMRRC Submission 040442-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R2849 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 115225557-115237753 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115235384 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 339 (F339L)
Ref Sequence ENSEMBL: ENSMUSP00000102153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019006] [ENSMUST00000044152] [ENSMUST00000106542] [ENSMUST00000106543]
AlphaFold Q80UF9
Predicted Effect possibly damaging
Transcript: ENSMUST00000019006
AA Change: F358L

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000019006
Gene: ENSMUSG00000018862
AA Change: F358L

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: ENSMUST00000044152
SMART Domains Protein: ENSMUSP00000043789
Gene: ENSMUSG00000034586

DomainStartEndE-ValueType
Pfam:Dymeclin 1 763 3.9e-242 PFAM
Pfam:Hid1 1 784 3.1e-260 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106542
SMART Domains Protein: ENSMUSP00000102152
Gene: ENSMUSG00000034586

DomainStartEndE-ValueType
Pfam:Dymeclin 1 764 7.5e-275 PFAM
Pfam:Hid1 1 785 2.3e-261 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106543
AA Change: F339L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102153
Gene: ENSMUSG00000018862
AA Change: F339L

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 noncoding transcript
Transcript: ENSMUST00000146256
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 G C 17: 24,508,481 (GRCm39) T1018R probably damaging Het
Abca8a T C 11: 109,932,931 (GRCm39) D1231G probably damaging Het
Adcy7 A G 8: 89,054,021 (GRCm39) I1017V probably benign Het
Agpat2 A G 2: 26,487,251 (GRCm39) I109T probably damaging Het
Aldh9a1 G A 1: 167,180,197 (GRCm39) R97H probably damaging Het
Als2 G A 1: 59,245,697 (GRCm39) T593M probably damaging Het
Ap3d1 G C 10: 80,577,742 (GRCm39) H28Q possibly damaging Het
Atxn1 A T 13: 45,720,175 (GRCm39) D573E probably damaging Het
Begain T A 12: 108,999,044 (GRCm39) M576L probably benign Het
Bod1l T C 5: 41,995,419 (GRCm39) N109S probably damaging Het
Boll A G 1: 55,385,532 (GRCm39) M131T possibly damaging Het
Celf2 T C 2: 6,608,936 (GRCm39) R282G probably damaging Het
Cers2 T C 3: 95,229,770 (GRCm39) F330L probably benign Het
Chst13 T C 6: 90,286,140 (GRCm39) D274G probably benign Het
Cimap1a A G 7: 140,429,182 (GRCm39) T156A probably benign Het
Cstdc5 T A 16: 36,187,814 (GRCm39) Q17L probably damaging Het
Dclk2 A G 3: 86,700,530 (GRCm39) V649A probably damaging Het
Deaf1 T C 7: 140,894,367 (GRCm39) *54W probably null Het
Fbf1 C T 11: 116,048,514 (GRCm39) probably null Het
Fbxo32 C T 15: 58,071,368 (GRCm39) S71N probably benign Het
Fbxo42 T A 4: 140,927,821 (GRCm39) N700K probably damaging Het
Fis1 T C 5: 136,991,971 (GRCm39) I55T possibly damaging Het
Fyco1 A T 9: 123,663,891 (GRCm39) L121* probably null Het
Gm2381 G A 7: 42,469,831 (GRCm39) P98S probably damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Gtf2ird1 G A 5: 134,387,861 (GRCm39) T946I probably damaging Het
Hmcn1 G T 1: 150,439,350 (GRCm39) Y5494* probably null Het
Josd2 A G 7: 44,118,397 (GRCm39) probably null Het
Lfng T A 5: 140,597,622 (GRCm39) D149E probably damaging Het
Lrp1 C T 10: 127,378,165 (GRCm39) A4052T probably damaging Het
Lrrtm3 T C 10: 63,924,810 (GRCm39) N119S probably damaging Het
Lypd6 C T 2: 50,055,664 (GRCm39) P38L probably damaging Het
Msl3l2 T C 10: 55,991,538 (GRCm39) C88R probably benign Het
Nsd1 A G 13: 55,361,505 (GRCm39) T158A probably damaging Het
Nudt22 A T 19: 6,970,852 (GRCm39) S239R probably benign Het
Or4g7 T C 2: 111,309,699 (GRCm39) M190T probably benign Het
Or52r1c A T 7: 102,735,319 (GRCm39) D193V probably damaging Het
Osbpl8 T A 10: 111,105,297 (GRCm39) S251T probably benign Het
Pcdhga10 T A 18: 37,881,253 (GRCm39) V338E possibly damaging Het
Pcnx2 A G 8: 126,487,666 (GRCm39) F1779S probably damaging Het
Plxna4 T C 6: 32,162,467 (GRCm39) K1349E probably damaging Het
Poteg A T 8: 27,971,704 (GRCm39) N406I probably benign Het
Ppp4r4 T C 12: 103,573,192 (GRCm39) V697A probably benign Het
Ptpra C A 2: 130,386,919 (GRCm39) H603Q probably benign Het
Rnf10 T C 5: 115,387,171 (GRCm39) D439G probably benign Het
Rnf43 T A 11: 87,623,093 (GRCm39) N731K probably benign Het
Slc2a4 T A 11: 69,836,997 (GRCm39) N116Y probably damaging Het
Slc6a15 C A 10: 103,240,552 (GRCm39) H392N probably benign Het
Slco6d1 C T 1: 98,394,441 (GRCm39) T375I probably benign Het
Smpd4 A G 16: 17,460,076 (GRCm39) D436G probably damaging Het
Spata22 G A 11: 73,244,571 (GRCm39) W311* probably null Het
Syt3 G A 7: 44,042,866 (GRCm39) V383I probably benign Het
Tle6 T A 10: 81,430,235 (GRCm39) I306F probably damaging Het
Tox3 G A 8: 90,975,018 (GRCm39) Q538* probably null Het
Trim24 T A 6: 37,933,388 (GRCm39) S656T probably damaging Het
Trnau1ap C A 4: 132,049,045 (GRCm39) V119F possibly damaging Het
Vmn1r181 G T 7: 23,683,943 (GRCm39) S136I possibly damaging Het
Vmn1r82 T C 7: 12,039,333 (GRCm39) V202A probably damaging Het
Zfp607b G A 7: 27,401,819 (GRCm39) V92I probably benign Het
Zfp964 G C 8: 70,116,504 (GRCm39) C368S unknown Het
Zw10 A G 9: 48,968,941 (GRCm39) probably null Het
Other mutations in Otop3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Otop3 APN 11 115,235,279 (GRCm39) missense probably benign
IGL00159:Otop3 APN 11 115,235,223 (GRCm39) missense probably damaging 1.00
IGL01372:Otop3 APN 11 115,235,930 (GRCm39) missense possibly damaging 0.86
IGL01380:Otop3 APN 11 115,237,237 (GRCm39) missense probably damaging 1.00
IGL01960:Otop3 APN 11 115,231,795 (GRCm39) missense probably damaging 0.97
IGL03099:Otop3 APN 11 115,230,408 (GRCm39) missense probably damaging 0.99
F5770:Otop3 UTSW 11 115,235,664 (GRCm39) missense probably damaging 1.00
R1560:Otop3 UTSW 11 115,235,289 (GRCm39) missense possibly damaging 0.89
R2847:Otop3 UTSW 11 115,235,384 (GRCm39) missense probably damaging 0.99
R5582:Otop3 UTSW 11 115,230,165 (GRCm39) missense unknown
R6383:Otop3 UTSW 11 115,235,898 (GRCm39) missense probably damaging 0.99
R6601:Otop3 UTSW 11 115,230,673 (GRCm39) missense probably damaging 0.98
R7001:Otop3 UTSW 11 115,230,479 (GRCm39) missense probably damaging 1.00
R7339:Otop3 UTSW 11 115,237,204 (GRCm39) missense probably damaging 1.00
R7487:Otop3 UTSW 11 115,235,826 (GRCm39) missense probably benign
R7609:Otop3 UTSW 11 115,230,546 (GRCm39) missense possibly damaging 0.63
R7639:Otop3 UTSW 11 115,235,187 (GRCm39) missense possibly damaging 0.94
R7643:Otop3 UTSW 11 115,230,474 (GRCm39) missense probably damaging 1.00
R7820:Otop3 UTSW 11 115,230,414 (GRCm39) missense probably damaging 0.99
R8044:Otop3 UTSW 11 115,237,261 (GRCm39) missense probably damaging 1.00
R8110:Otop3 UTSW 11 115,230,221 (GRCm39) missense probably benign
R8281:Otop3 UTSW 11 115,235,901 (GRCm39) missense possibly damaging 0.88
R8556:Otop3 UTSW 11 115,235,782 (GRCm39) missense probably benign 0.00
R8899:Otop3 UTSW 11 115,231,886 (GRCm39) critical splice donor site probably null
R9137:Otop3 UTSW 11 115,235,868 (GRCm39) missense possibly damaging 0.88
R9165:Otop3 UTSW 11 115,235,424 (GRCm39) missense possibly damaging 0.62
R9306:Otop3 UTSW 11 115,237,248 (GRCm39) missense probably benign 0.09
R9788:Otop3 UTSW 11 115,235,087 (GRCm39) missense unknown
V7580:Otop3 UTSW 11 115,235,664 (GRCm39) missense probably damaging 1.00
V7581:Otop3 UTSW 11 115,235,664 (GRCm39) missense probably damaging 1.00
V7582:Otop3 UTSW 11 115,235,664 (GRCm39) missense probably damaging 1.00
V7583:Otop3 UTSW 11 115,235,664 (GRCm39) missense probably damaging 1.00
X0022:Otop3 UTSW 11 115,230,693 (GRCm39) missense probably benign 0.01
Z1176:Otop3 UTSW 11 115,231,838 (GRCm39) missense probably damaging 1.00
Z1176:Otop3 UTSW 11 115,230,670 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGTACTGCCTCATCTGCTG -3'
(R):5'- AGGCCAGGATAAGCTGGTTG -3'

Sequencing Primer
(F):5'- GCCTCATCTGCTGTGCTGTG -3'
(R):5'- CCACGATAGCCACGATGGAG -3'
Posted On 2014-12-04