Incidental Mutation 'IGL03087:Or6c76'
ID 418136
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6c76
Ensembl Gene ENSMUSG00000050251
Gene Name olfactory receptor family 6 subfamily C member 76
Synonyms GA_x6K02T2PULF-11454600-11455541, Olfr809, MOR108-4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # IGL03087
Quality Score
Status
Chromosome 10
Chromosomal Location 129611740-129612726 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129612130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 116 (M116L)
Ref Sequence ENSEMBL: ENSMUSP00000145037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059891] [ENSMUST00000203236] [ENSMUST00000203598] [ENSMUST00000204622] [ENSMUST00000218237]
AlphaFold Q8VEX8
Predicted Effect possibly damaging
Transcript: ENSMUST00000059891
AA Change: M116L

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000054949
Gene: ENSMUSG00000050251
AA Change: M116L

DomainStartEndE-ValueType
Pfam:7tm_4 44 321 3.5e-49 PFAM
Pfam:7tm_1 54 303 1.3e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203236
SMART Domains Protein: ENSMUSP00000145315
Gene: ENSMUSG00000049894

DomainStartEndE-ValueType
Pfam:7tm_4 29 308 1.8e-53 PFAM
Pfam:7tm_1 39 288 7.7e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000203598
AA Change: M116L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145037
Gene: ENSMUSG00000050251
AA Change: M116L

DomainStartEndE-ValueType
Pfam:7tm_4 29 148 8.1e-20 PFAM
Pfam:7tm_1 39 149 1.8e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204622
AA Change: M131L
SMART Domains Protein: ENSMUSP00000145260
Gene: ENSMUSG00000052818
AA Change: M131L

DomainStartEndE-ValueType
Pfam:7tm_4 44 321 3.5e-49 PFAM
Pfam:7tm_1 54 303 1.3e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000218237
AA Change: M131L

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik C T 5: 25,202,630 (GRCm39) probably benign Het
Acbd5 A G 2: 22,979,722 (GRCm39) T261A probably benign Het
Ap1g2 G A 14: 55,340,493 (GRCm39) T331I probably damaging Het
Ap4m1 A G 5: 138,173,066 (GRCm39) T150A probably benign Het
Arid4a G T 12: 71,122,019 (GRCm39) R478L possibly damaging Het
Bard1 T C 1: 71,106,289 (GRCm39) D446G probably damaging Het
Baz2a T C 10: 127,958,182 (GRCm39) L1087P probably damaging Het
Bnc1 A G 7: 81,624,390 (GRCm39) L279P possibly damaging Het
Bphl A T 13: 34,257,694 (GRCm39) H275L probably damaging Het
Ces1c T C 8: 93,845,042 (GRCm39) I120V probably benign Het
Csmd3 T A 15: 47,840,429 (GRCm39) Y946F probably damaging Het
Dnah8 G A 17: 31,003,118 (GRCm39) V3606I probably benign Het
Eef2 A G 10: 81,017,081 (GRCm39) N696S probably benign Het
Eno4 A G 19: 58,951,248 (GRCm39) H420R possibly damaging Het
Enpp1 T A 10: 24,531,779 (GRCm39) probably benign Het
Fbxo25 T C 8: 13,974,019 (GRCm39) probably null Het
Glt8d1 T A 14: 30,732,053 (GRCm39) F155I probably damaging Het
Golim4 A T 3: 75,785,980 (GRCm39) H598Q possibly damaging Het
Hnrnpdl T A 5: 100,185,460 (GRCm39) E149D probably damaging Het
Ifngr2 G T 16: 91,359,892 (GRCm39) *333L probably null Het
Ift88 T C 14: 57,715,414 (GRCm39) S486P probably benign Het
Igsf9 T C 1: 172,318,310 (GRCm39) I150T probably benign Het
Jag2 G A 12: 112,877,568 (GRCm39) L670F possibly damaging Het
Kcnc2 T A 10: 112,291,652 (GRCm39) I280N probably benign Het
Kif18a A G 2: 109,148,462 (GRCm39) probably benign Het
Lct A G 1: 128,228,112 (GRCm39) L1127P possibly damaging Het
Lonrf1 A T 8: 36,692,705 (GRCm39) probably null Het
Lyst T A 13: 13,809,641 (GRCm39) I437N probably damaging Het
Map3k1 A G 13: 111,885,559 (GRCm39) S1453P probably benign Het
Mcmdc2 A G 1: 10,001,170 (GRCm39) M482V possibly damaging Het
Mical1 T C 10: 41,358,686 (GRCm39) S535P probably damaging Het
Myh3 T C 11: 66,981,798 (GRCm39) F765L probably damaging Het
Nat8f6 A T 6: 85,785,499 (GRCm39) Y217N probably damaging Het
Ndufaf1 A G 2: 119,486,280 (GRCm39) probably benign Het
Neurod6 A T 6: 55,655,760 (GRCm39) C292* probably null Het
Or12j3 T A 7: 139,953,005 (GRCm39) I173F probably damaging Het
Or4c12b A G 2: 89,647,015 (GRCm39) E109G probably damaging Het
Or5j1 A T 2: 86,879,356 (GRCm39) S75T possibly damaging Het
Or7g16 T C 9: 18,727,380 (GRCm39) D70G probably damaging Het
Pcdhac2 A G 18: 37,278,735 (GRCm39) N572D probably damaging Het
Pfpl A G 19: 12,406,241 (GRCm39) N164S probably benign Het
Pi4kb A G 3: 94,892,075 (GRCm39) R264G probably benign Het
Pla2g2c T A 4: 138,458,923 (GRCm39) F10I probably benign Het
Rag2 G A 2: 101,460,559 (GRCm39) V290I probably benign Het
Rhot2 G A 17: 26,060,115 (GRCm39) probably benign Het
Rps6kc1 T C 1: 190,603,908 (GRCm39) Y238C probably damaging Het
Scyl2 G T 10: 89,488,830 (GRCm39) A495D possibly damaging Het
Septin4 T A 11: 87,476,071 (GRCm39) probably benign Het
Serpina5 G T 12: 104,067,992 (GRCm39) A18S probably benign Het
Slc25a11 T C 11: 70,536,033 (GRCm39) T234A probably benign Het
Slc44a2 C T 9: 21,258,061 (GRCm39) T435I probably benign Het
Tekt2 T A 4: 126,218,660 (GRCm39) Q31L possibly damaging Het
Tfpi A G 2: 84,274,389 (GRCm39) V199A possibly damaging Het
Trap1 G T 16: 3,862,565 (GRCm39) probably null Het
Trmt1 A G 8: 85,421,862 (GRCm39) Y213C probably damaging Het
Ubr4 C T 4: 139,177,668 (GRCm39) R3184* probably null Het
Uroc1 G T 6: 90,340,085 (GRCm39) probably benign Het
Vmn1r19 A G 6: 57,381,476 (GRCm39) I10V probably benign Het
Zfhx2 G A 14: 55,310,302 (GRCm39) A748V possibly damaging Het
Other mutations in Or6c76
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01884:Or6c76 APN 10 129,612,697 (GRCm39) missense probably benign 0.34
IGL02000:Or6c76 APN 10 129,611,938 (GRCm39) missense probably benign 0.03
IGL02146:Or6c76 APN 10 129,612,727 (GRCm39) utr 3 prime probably benign
IGL03260:Or6c76 APN 10 129,612,521 (GRCm39) missense probably damaging 1.00
G1Funyon:Or6c76 UTSW 10 129,612,709 (GRCm39) missense probably benign 0.06
PIT4466001:Or6c76 UTSW 10 129,612,142 (GRCm39) missense probably benign 0.04
R0564:Or6c76 UTSW 10 129,612,005 (GRCm39) missense probably damaging 1.00
R0613:Or6c76 UTSW 10 129,612,131 (GRCm39) missense probably damaging 1.00
R1165:Or6c76 UTSW 10 129,612,302 (GRCm39) missense probably damaging 0.99
R1556:Or6c76 UTSW 10 129,612,242 (GRCm39) missense probably benign 0.05
R5392:Or6c76 UTSW 10 129,612,184 (GRCm39) missense probably benign 0.01
R6665:Or6c76 UTSW 10 129,612,116 (GRCm39) missense probably damaging 1.00
R7519:Or6c76 UTSW 10 129,612,091 (GRCm39) missense probably benign 0.01
R7804:Or6c76 UTSW 10 129,612,091 (GRCm39) missense probably benign 0.01
R8022:Or6c76 UTSW 10 129,612,654 (GRCm39) missense possibly damaging 0.47
R8301:Or6c76 UTSW 10 129,612,709 (GRCm39) missense probably benign 0.06
R8447:Or6c76 UTSW 10 129,612,371 (GRCm39) missense possibly damaging 0.89
R9104:Or6c76 UTSW 10 129,612,521 (GRCm39) missense probably damaging 1.00
R9216:Or6c76 UTSW 10 129,611,796 (GRCm39) missense probably benign
R9679:Or6c76 UTSW 10 129,611,882 (GRCm39) missense probably damaging 1.00
R9720:Or6c76 UTSW 10 129,612,581 (GRCm39) missense probably benign 0.07
Z1176:Or6c76 UTSW 10 129,611,911 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02