Incidental Mutation 'IGL00094:Otop3'
ID 1104
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Otop3
Ensembl Gene ENSMUSG00000018862
Gene Name otopetrin 3
Synonyms 2310011E08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL00094
Quality Score
Status
Chromosome 11
Chromosomal Location 115334731-115346927 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115344453 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 304 (T304S)
Ref Sequence ENSEMBL: ENSMUSP00000102153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019006] [ENSMUST00000044152] [ENSMUST00000106542] [ENSMUST00000106543]
AlphaFold Q80UF9
Predicted Effect probably benign
Transcript: ENSMUST00000019006
AA Change: T323S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000019006
Gene: ENSMUSG00000018862
AA Change: T323S

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 benign
Transcript: ENSMUST00000106543
AA Change: T304S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102153
Gene: ENSMUSG00000018862
AA Change: T304S

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006E09Rik A G 11: 101,990,820 E114G possibly damaging Het
Aacs T A 5: 125,514,190 N547K probably benign Het
Abca13 A G 11: 9,297,443 T2397A probably benign Het
Abcc1 A G 16: 14,470,534 N1341S probably null Het
Adcy9 T A 16: 4,304,582 I535L probably benign Het
Akap6 A G 12: 53,140,980 S1726G possibly damaging Het
Ap3d1 T C 10: 80,741,979 M5V probably benign Het
Ash1l T A 3: 88,981,712 N299K probably benign Het
B3gnt2 C T 11: 22,836,151 V346I probably benign Het
Ceacam14 G A 7: 17,814,137 V51I probably damaging Het
Cfap69 T C 5: 5,584,682 D812G probably damaging Het
Chrna9 T C 5: 65,969,257 V118A probably benign Het
Cpsf7 A G 19: 10,539,787 R418G probably damaging Het
Csnk1g3 T C 18: 53,919,003 Y215H probably damaging Het
Dcaf5 A C 12: 80,339,323 N676K probably benign Het
Dld A T 12: 31,335,577 M255K probably benign Het
Esr2 A T 12: 76,133,896 L417H probably damaging Het
Fsip2 T A 2: 82,990,386 S5488T probably benign Het
Gatb A T 3: 85,601,920 I130L possibly damaging Het
Gbp9 T C 5: 105,081,264 K506E probably benign Het
Hkdc1 T C 10: 62,393,789 N703S probably damaging Het
Itgb3 T A 11: 104,633,584 V182E probably damaging Het
Itih4 A T 14: 30,895,469 Y582F probably damaging Het
Lancl2 T A 6: 57,724,537 probably benign Het
Lgals3 A G 14: 47,384,718 K197R probably benign Het
Lipe T C 7: 25,383,552 T767A probably damaging Het
Lrp2 T A 2: 69,507,779 D1219V probably damaging Het
Lrriq3 T A 3: 155,101,061 C116S probably benign Het
Mcm5 T G 8: 75,124,945 probably null Het
Mtpn G T 6: 35,522,776 T31K probably damaging Het
Mycbp2 A T 14: 103,223,050 Y1494N probably damaging Het
Nbeal1 G T 1: 60,235,191 E498* probably null Het
Nos1 T G 5: 117,910,100 S657A probably damaging Het
Nr3c1 A T 18: 39,428,608 probably null Het
Olfr1126 T A 2: 87,457,927 V254E probably damaging Het
Olfr1262 T A 2: 90,003,021 I205N possibly damaging Het
Olfr1502 A T 19: 13,861,786 probably benign Het
Olfr281 T G 15: 98,456,418 V36G possibly damaging Het
Olfr44 T C 9: 39,484,648 I202V probably benign Het
Olfr45 A T 7: 140,691,436 H177L probably damaging Het
Olfr851 T A 9: 19,496,859 I37N probably damaging Het
Osbp2 T G 11: 3,711,848 S735R probably benign Het
Pcdhac2 A T 18: 37,145,075 L369F probably damaging Het
Pick1 T C 15: 79,247,257 probably benign Het
Prlhr A T 19: 60,467,681 V149E probably damaging Het
Prss12 G A 3: 123,486,949 probably benign Het
Rab19 A T 6: 39,388,198 probably benign Het
Ralgapb T C 2: 158,420,856 W5R probably damaging Het
Rfx4 T A 10: 84,840,199 L44Q probably damaging Het
Scube2 T C 7: 109,808,454 T760A probably damaging Het
Shcbp1 A C 8: 4,754,258 Y145* probably null Het
Snx31 T A 15: 36,545,616 probably null Het
Spopl A T 2: 23,537,631 V163E possibly damaging Het
Sqor T C 2: 122,787,543 I107T probably damaging Het
Tcte1 T C 17: 45,534,928 F153L probably damaging Het
Tnfrsf11b T A 15: 54,259,842 H121L probably damaging Het
Tnip1 G T 11: 54,940,817 Y10* probably null Het
Tnxb G T 17: 34,685,629 G1123C probably damaging Het
Wdr62 T C 7: 30,243,523 E515G probably benign Het
Zfand1 A T 3: 10,348,530 D32E probably null Het
Zfp112 A C 7: 24,122,243 T3P probably damaging Het
Other mutations in Otop3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Otop3 APN 11 115344397 missense probably damaging 1.00
IGL01372:Otop3 APN 11 115345104 missense possibly damaging 0.86
IGL01380:Otop3 APN 11 115346411 missense probably damaging 1.00
IGL01960:Otop3 APN 11 115340969 missense probably damaging 0.97
IGL03099:Otop3 APN 11 115339582 missense probably damaging 0.99
F5770:Otop3 UTSW 11 115344838 missense probably damaging 1.00
R1560:Otop3 UTSW 11 115344463 missense possibly damaging 0.89
R2847:Otop3 UTSW 11 115344558 missense probably damaging 0.99
R2849:Otop3 UTSW 11 115344558 missense probably damaging 0.99
R5582:Otop3 UTSW 11 115339339 missense unknown
R6383:Otop3 UTSW 11 115345072 missense probably damaging 0.99
R6601:Otop3 UTSW 11 115339847 missense probably damaging 0.98
R7001:Otop3 UTSW 11 115339653 missense probably damaging 1.00
R7339:Otop3 UTSW 11 115346378 missense probably damaging 1.00
R7487:Otop3 UTSW 11 115345000 missense probably benign
R7609:Otop3 UTSW 11 115339720 missense possibly damaging 0.63
R7639:Otop3 UTSW 11 115344361 missense possibly damaging 0.94
R7643:Otop3 UTSW 11 115339648 missense probably damaging 1.00
R7820:Otop3 UTSW 11 115339588 missense probably damaging 0.99
R8044:Otop3 UTSW 11 115346435 missense probably damaging 1.00
R8110:Otop3 UTSW 11 115339395 missense probably benign
R8281:Otop3 UTSW 11 115345075 missense possibly damaging 0.88
R8556:Otop3 UTSW 11 115344956 missense probably benign 0.00
R8899:Otop3 UTSW 11 115341060 critical splice donor site probably null
R9137:Otop3 UTSW 11 115345042 missense possibly damaging 0.88
R9165:Otop3 UTSW 11 115344598 missense possibly damaging 0.62
R9306:Otop3 UTSW 11 115346422 missense probably benign 0.09
R9788:Otop3 UTSW 11 115344261 missense unknown
V7580:Otop3 UTSW 11 115344838 missense probably damaging 1.00
V7581:Otop3 UTSW 11 115344838 missense probably damaging 1.00
V7582:Otop3 UTSW 11 115344838 missense probably damaging 1.00
V7583:Otop3 UTSW 11 115344838 missense probably damaging 1.00
X0022:Otop3 UTSW 11 115339867 missense probably benign 0.01
Z1176:Otop3 UTSW 11 115339844 missense probably damaging 1.00
Z1176:Otop3 UTSW 11 115341012 missense probably damaging 1.00
Posted On 2011-07-12