Incidental Mutation 'IGL01099:Olfr76'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr76
Ensembl Gene ENSMUSG00000067522
Gene Nameolfactory receptor 76
SynonymsMOR215-3, V5, GA_x6K02T2RE5P-2479601-2478648
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.171) question?
Stock #IGL01099
Quality Score
Chromosomal Location12117996-12123203 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 12119876 bp
Amino Acid Change Serine to Proline at position 279 (S279P)
Ref Sequence ENSEMBL: ENSMUSP00000154269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087822] [ENSMUST00000208391] [ENSMUST00000213471] [ENSMUST00000214103] [ENSMUST00000214676]
Predicted Effect probably damaging
Transcript: ENSMUST00000087822
AA Change: S267P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000085124
Gene: ENSMUSG00000067522
AA Change: S267P

Pfam:7tm_4 34 311 9.2e-54 PFAM
Pfam:7tm_1 44 293 5.6e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000208391
Predicted Effect probably damaging
Transcript: ENSMUST00000213471
AA Change: S279P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000214103
Predicted Effect probably damaging
Transcript: ENSMUST00000214676
AA Change: S267P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216205
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933425L06Rik A T 13: 105,109,360 H143L probably benign Het
Abca8a G A 11: 110,074,205 probably benign Het
Adam28 A G 14: 68,637,329 probably null Het
Adcy10 A G 1: 165,539,842 I560M probably benign Het
Alpl G A 4: 137,743,313 probably benign Het
Ank1 G A 8: 23,108,249 G753D probably damaging Het
Arhgef28 A T 13: 97,953,972 probably benign Het
Bmp7 A T 2: 172,875,262 C329S probably damaging Het
Capn13 T C 17: 73,351,509 D188G probably damaging Het
Car10 G A 11: 93,578,690 E164K possibly damaging Het
Cfhr1 T A 1: 139,547,759 probably benign Het
Col11a1 C T 3: 114,112,041 R562* probably null Het
Colec12 C T 18: 9,848,826 R335C probably damaging Het
Cyb561d2 C T 9: 107,540,289 probably null Het
D430042O09Rik T A 7: 125,865,320 H1286Q probably damaging Het
Epb41l3 A G 17: 69,210,193 D72G possibly damaging Het
Etl4 T C 2: 20,807,111 L1335P probably benign Het
F5 T G 1: 164,194,334 N1459K probably damaging Het
Fam161a T C 11: 23,015,894 probably benign Het
Flnc G A 6: 29,433,618 V54M probably damaging Het
Fndc3b T C 3: 27,463,817 I607V probably benign Het
Fscb A G 12: 64,472,101 S864P unknown Het
Glod4 T A 11: 76,239,550 K36* probably null Het
Gm6619 G A 6: 131,490,430 R86Q possibly damaging Het
Gm7052 T C 17: 22,039,725 probably benign Het
Gyg A T 3: 20,151,047 M119K probably benign Het
Ifit2 A T 19: 34,573,302 I81F probably damaging Het
Insr T C 8: 3,258,682 Y118C probably damaging Het
Kcnh3 T C 15: 99,239,736 S771P probably benign Het
Kndc1 C A 7: 139,920,784 H688Q probably damaging Het
Mybpc2 A G 7: 44,516,167 C330R probably damaging Het
Naa50 A T 16: 44,156,469 N23I probably damaging Het
Olfr544 T A 7: 102,484,478 D214V probably damaging Het
Olfr894 T C 9: 38,219,743 S307P probably benign Het
Olfr912 T C 9: 38,582,077 S267P probably benign Het
Pfkp A T 13: 6,603,390 probably benign Het
Phlda2 G A 7: 143,502,139 probably null Het
Plxnd1 C A 6: 115,969,945 V823L probably benign Het
Ppil2 T A 16: 17,091,212 M368L probably damaging Het
Prpf40a T A 2: 53,141,835 H794L probably benign Het
Ripor2 A T 13: 24,701,207 H436L probably benign Het
Rnf138 T A 18: 21,020,913 C159S possibly damaging Het
Scn7a A T 2: 66,684,238 V1064D probably damaging Het
Slc12a2 T A 18: 57,906,020 C557* probably null Het
Slc1a6 T C 10: 78,788,997 S79P possibly damaging Het
Snapin G A 3: 90,490,602 probably benign Het
Tdp1 A T 12: 99,915,445 probably benign Het
Tigar G T 6: 127,088,145 A180E probably benign Het
Trav6-2 A T 14: 52,667,665 T48S probably benign Het
Ttn A G 2: 76,728,432 Y29702H probably damaging Het
Ush1c A G 7: 46,205,262 S689P probably damaging Het
Vmn1r40 A T 6: 89,714,596 I132F probably damaging Het
Vmn1r85 T A 7: 13,084,534 K228* probably null Het
Wdr33 C A 18: 31,906,789 probably benign Het
Ybx2 A T 11: 69,940,730 Q136L probably damaging Het
Other mutations in Olfr76
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01693:Olfr76 APN 19 12120557 missense probably benign
R0360:Olfr76 UTSW 19 12119853 missense possibly damaging 0.84
R0399:Olfr76 UTSW 19 12120370 missense possibly damaging 0.67
R0467:Olfr76 UTSW 19 12120536 missense probably benign 0.01
R0750:Olfr76 UTSW 19 12120713 splice site probably null
R1432:Olfr76 UTSW 19 12120239 missense possibly damaging 0.56
R1535:Olfr76 UTSW 19 12120332 missense probably damaging 1.00
R4739:Olfr76 UTSW 19 12119870 missense possibly damaging 0.65
R4767:Olfr76 UTSW 19 12119936 missense probably damaging 1.00
R5032:Olfr76 UTSW 19 12120056 missense probably benign 0.00
R5367:Olfr76 UTSW 19 12120436 missense possibly damaging 0.90
R6363:Olfr76 UTSW 19 12120166 missense possibly damaging 0.60
R6426:Olfr76 UTSW 19 12119848 missense probably benign 0.04
R7162:Olfr76 UTSW 19 12120137 missense possibly damaging 0.60
R7224:Olfr76 UTSW 19 12120548 missense probably benign 0.00
R7565:Olfr76 UTSW 19 12120011 missense probably benign 0.01
Posted On2013-06-21