Incidental Mutation 'IGL02070:Olfr1184'
ID185766
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1184
Ensembl Gene ENSMUSG00000051424
Gene Nameolfactory receptor 1184
SynonymsGA_x6K02T2Q125-49974190-49975125, MOR225-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL02070
Quality Score
Status
Chromosome2
Chromosomal Location88483598-88489284 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 88487002 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 90 (I90N)
Ref Sequence ENSEMBL: ENSMUSP00000149649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050038] [ENSMUST00000216675]
Predicted Effect probably damaging
Transcript: ENSMUST00000050038
AA Change: I90N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058679
Gene: ENSMUSG00000051424
AA Change: I90N

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.2e-47 PFAM
Pfam:7tm_1 39 285 2.3e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216675
AA Change: I90N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik T C 17: 33,066,130 E566G probably damaging Het
Adgrg6 A G 10: 14,467,592 Y204H probably damaging Het
Akap13 C A 7: 75,666,545 T583K probably benign Het
Alms1 C A 6: 85,651,403 Q2948K possibly damaging Het
Auts2 C T 5: 131,470,421 R327Q probably damaging Het
Card14 A C 11: 119,344,704 E988A probably damaging Het
Ccl25 T C 8: 4,348,700 probably benign Het
Cttnbp2nl A C 3: 105,011,266 V86G probably damaging Het
Cyb5r2 G A 7: 107,751,187 T213I probably damaging Het
Ear6 A G 14: 51,854,446 H150R probably damaging Het
Ecm2 T C 13: 49,518,370 C116R probably damaging Het
Gabrr2 G T 4: 33,095,340 E385* probably null Het
Hyal5 T A 6: 24,876,962 V278D probably damaging Het
Mboat1 T C 13: 30,224,397 L181P probably benign Het
Mdm1 A G 10: 118,146,618 I53V probably damaging Het
Mfrp T C 9: 44,104,689 Y368H probably benign Het
Myo1b A G 1: 51,794,337 V365A probably damaging Het
Nexmif G T X: 104,083,211 H1509Q probably benign Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Obox6 G A 7: 15,834,879 S24L probably damaging Het
Olfr682-ps1 G T 7: 105,127,047 L85I probably benign Het
Optc T A 1: 133,901,176 I178F probably damaging Het
Pcdh15 T A 10: 74,630,868 N1535K probably benign Het
Pcdhb19 A T 18: 37,498,544 N464I probably damaging Het
Pcsk5 C T 19: 17,439,042 V1681I probably benign Het
Pknox1 T A 17: 31,603,365 probably benign Het
Ppa2 T C 3: 133,377,862 F327S probably damaging Het
Rab39b G T X: 75,574,703 L174M probably damaging Het
Reep5 A T 18: 34,372,473 Y48* probably null Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sar1a T A 10: 61,684,894 probably benign Het
Satb1 T A 17: 51,740,067 D740V probably damaging Het
Sema3f G A 9: 107,692,241 T128I probably damaging Het
Snx1 A T 9: 66,098,449 S129R probably damaging Het
Sptb T A 12: 76,605,539 K1641N possibly damaging Het
Sptbn1 T C 11: 30,145,979 E305G probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Taar7d A T 10: 24,028,254 I345F probably benign Het
Tes T C 6: 17,099,780 L258P probably damaging Het
Trav9-4 A T 14: 53,676,360 T24S possibly damaging Het
Utp20 A G 10: 88,821,877 probably benign Het
Vcam1 T A 3: 116,125,997 T207S probably benign Het
Xkrx T C X: 134,150,562 S447G probably benign Het
Zfp318 T C 17: 46,396,718 L234P probably damaging Het
Other mutations in Olfr1184
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01286:Olfr1184 APN 2 88487248 missense probably damaging 1.00
IGL01288:Olfr1184 APN 2 88487248 missense probably damaging 1.00
IGL01790:Olfr1184 APN 2 88486926 missense possibly damaging 0.65
IGL02247:Olfr1184 APN 2 88487427 missense probably benign 0.00
IGL02932:Olfr1184 APN 2 88487175 missense probably benign 0.01
IGL02997:Olfr1184 APN 2 88487388 missense probably damaging 0.99
IGL03161:Olfr1184 APN 2 88487448 missense probably benign 0.01
PIT4531001:Olfr1184 UTSW 2 88487257 missense possibly damaging 0.95
R3713:Olfr1184 UTSW 2 88487443 missense probably damaging 1.00
R3715:Olfr1184 UTSW 2 88487443 missense probably damaging 1.00
R4421:Olfr1184 UTSW 2 88487241 missense probably damaging 1.00
R4514:Olfr1184 UTSW 2 88487365 missense probably benign 0.05
R5096:Olfr1184 UTSW 2 88487302 missense possibly damaging 0.89
R5661:Olfr1184 UTSW 2 88487097 missense probably damaging 0.98
R5851:Olfr1184 UTSW 2 88486860 missense possibly damaging 0.54
R6458:Olfr1184 UTSW 2 88487218 missense possibly damaging 0.90
R7073:Olfr1184 UTSW 2 88487307 missense probably benign 0.00
R7102:Olfr1184 UTSW 2 88487148 missense probably damaging 1.00
R7145:Olfr1184 UTSW 2 88487377 missense probably damaging 1.00
R7221:Olfr1184 UTSW 2 88487629 missense probably damaging 0.97
X0063:Olfr1184 UTSW 2 88487490 missense probably benign 0.23
Posted On2014-05-07