Incidental Mutation 'IGL02598:Olfr1176'
ID299932
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1176
Ensembl Gene ENSMUSG00000050023
Gene Nameolfactory receptor 1176
SynonymsMOR174-5, GA_x6K02T2Q125-49824309-49825256
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock #IGL02598
Quality Score
Status
Chromosome2
Chromosomal Location88336721-88342048 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 88340251 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 229 (I229F)
Ref Sequence ENSEMBL: ENSMUSP00000149943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057439] [ENSMUST00000137895] [ENSMUST00000213778] [ENSMUST00000216713]
Predicted Effect possibly damaging
Transcript: ENSMUST00000057439
AA Change: I229F

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000053353
Gene: ENSMUSG00000050023
AA Change: I229F

DomainStartEndE-ValueType
low complexity region 10 18 N/A INTRINSIC
Pfam:7tm_4 32 309 5.3e-46 PFAM
Pfam:7tm_1 42 291 4.1e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137895
Predicted Effect possibly damaging
Transcript: ENSMUST00000213778
AA Change: I229F

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000216713
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik A T 11: 50,943,621 M1K probably null Het
Abca13 C T 11: 9,431,898 T3850I probably damaging Het
Abcc4 A T 14: 118,668,369 L95* probably null Het
Acacb A G 5: 114,246,037 Y2209C probably damaging Het
Acadm A G 3: 153,938,544 probably benign Het
Arid2 G A 15: 96,371,536 V1177M probably damaging Het
Atp8a1 A T 5: 67,682,756 probably null Het
BC048403 G A 10: 121,739,971 probably benign Het
Catsperd A G 17: 56,647,815 probably null Het
Cd28 A G 1: 60,763,339 probably benign Het
Cep164 A G 9: 45,770,704 Y1934H probably damaging Het
Cep350 T C 1: 155,862,967 I2377V probably benign Het
Csmd3 T C 15: 47,669,690 K1581E probably damaging Het
Dab2 A T 15: 6,429,366 N232I probably damaging Het
Dyrk4 G A 6: 126,884,019 probably benign Het
Efcab14 T A 4: 115,740,434 C75* probably null Het
Elovl1 T C 4: 118,431,419 probably null Het
Eps8l2 T G 7: 141,354,936 probably benign Het
Gm4907 A T X: 23,907,471 T404S probably benign Het
Grik1 A T 16: 87,947,984 V460E probably damaging Het
Gtf2f2 A G 14: 76,007,742 S35P probably benign Het
Ifi203 A G 1: 173,935,002 probably benign Het
Ifi209 T C 1: 173,644,715 V374A probably damaging Het
Lars A G 18: 42,227,277 S705P possibly damaging Het
Lcmt1 A G 7: 123,421,648 probably benign Het
Limd1 T C 9: 123,516,868 S571P probably benign Het
Limd1 T A 9: 123,480,171 Y312N probably benign Het
Lin28b A T 10: 45,420,526 D125E possibly damaging Het
Lmtk3 T C 7: 45,793,140 S416P probably damaging Het
Map7d3 T C X: 56,809,786 T446A probably benign Het
Masp1 T A 16: 23,459,631 M523L probably benign Het
Mroh4 C A 15: 74,611,243 probably null Het
Mtmr6 G A 14: 60,300,504 A651T probably damaging Het
Myocd A G 11: 65,183,470 S738P probably benign Het
Olfr685 A G 7: 105,180,956 V134A probably damaging Het
Olfr714 A T 7: 107,074,716 N296I possibly damaging Het
Olfr803 A T 10: 129,691,273 I256N possibly damaging Het
Olfr984 A T 9: 40,100,565 F308L probably benign Het
Parg G T 14: 32,214,324 V479L probably damaging Het
Pcdhb10 C A 18: 37,413,781 H637N possibly damaging Het
Plekhg2 G A 7: 28,360,475 T1118I possibly damaging Het
Podxl T C 6: 31,524,420 E400G probably damaging Het
Prss54 C A 8: 95,565,709 V81F probably damaging Het
Pzp A G 6: 128,487,457 L1369P probably benign Het
Rfx8 A T 1: 39,695,968 probably benign Het
Rgs6 C T 12: 83,091,797 P302S probably benign Het
Rnf148 A C 6: 23,654,457 I180S probably damaging Het
Sacm1l A G 9: 123,578,996 D350G probably benign Het
Slc33a1 C T 3: 63,943,332 G524S probably benign Het
Slc5a7 A G 17: 54,284,193 V237A probably benign Het
Spink7 T C 18: 62,594,285 D56G probably damaging Het
Syn3 A G 10: 86,467,199 S31P probably damaging Het
Thrb C A 14: 18,008,606 P110Q possibly damaging Het
Vmn2r76 G T 7: 86,228,671 T506K probably benign Het
Vps45 A G 3: 96,031,042 L486P probably benign Het
Zan G A 5: 137,446,211 T1823M unknown Het
Zdhhc6 T A 19: 55,314,527 Q14L probably benign Het
Zfp990 A T 4: 145,536,963 N177I possibly damaging Het
Other mutations in Olfr1176
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01736:Olfr1176 APN 2 88340427 missense probably damaging 1.00
IGL02166:Olfr1176 APN 2 88339678 missense probably damaging 0.97
IGL02340:Olfr1176 APN 2 88339562 unclassified probably benign
IGL03069:Olfr1176 APN 2 88340299 splice site probably null
IGL03212:Olfr1176 APN 2 88339672 missense probably damaging 1.00
R1959:Olfr1176 UTSW 2 88340201 missense probably damaging 1.00
R1960:Olfr1176 UTSW 2 88340201 missense probably damaging 1.00
R2907:Olfr1176 UTSW 2 88340483 missense probably benign 0.11
R2908:Olfr1176 UTSW 2 88340483 missense probably benign 0.11
R4049:Olfr1176 UTSW 2 88343800 splice site probably null
R4257:Olfr1176 UTSW 2 88340277 missense probably damaging 1.00
R4823:Olfr1176 UTSW 2 88339835 missense probably damaging 0.96
R4897:Olfr1176 UTSW 2 88344342 missense possibly damaging 0.89
R5106:Olfr1176 UTSW 2 88340110 missense probably benign 0.07
R5192:Olfr1176 UTSW 2 88339748 missense possibly damaging 0.94
R5196:Olfr1176 UTSW 2 88339748 missense possibly damaging 0.94
R5331:Olfr1176 UTSW 2 88339988 missense probably damaging 1.00
R5579:Olfr1176 UTSW 2 88340413 missense possibly damaging 0.83
R6283:Olfr1176 UTSW 2 88339658 missense probably benign 0.33
R6702:Olfr1176 UTSW 2 88340242 missense probably benign 0.02
R8155:Olfr1176 UTSW 2 88339952 missense probably damaging 0.98
Posted On2015-04-16