Incidental Mutation 'IGL02348:Olfr190'
ID289372
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr190
Ensembl Gene ENSMUSG00000064006
Gene Nameolfactory receptor 190
SynonymsMOR183-4, GA_x54KRFPKG5P-55303207-55302284
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL02348
Quality Score
Status
Chromosome16
Chromosomal Location59067140-59078005 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 59074949 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 44 (I44L)
Ref Sequence ENSEMBL: ENSMUSP00000148991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071243] [ENSMUST00000206214] [ENSMUST00000215687] [ENSMUST00000216495]
Predicted Effect probably damaging
Transcript: ENSMUST00000071243
AA Change: I44L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000071224
Gene: ENSMUSG00000064006
AA Change: I44L

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.1e-46 PFAM
Pfam:7tm_1 39 288 2.8e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206214
AA Change: I44L
Predicted Effect probably damaging
Transcript: ENSMUST00000215687
AA Change: I44L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000216495
AA Change: I44L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833423E24Rik T C 2: 85,493,296 I298V possibly damaging Het
Akap12 G A 10: 4,354,722 D511N probably damaging Het
Akt3 T A 1: 177,059,386 D299V probably damaging Het
Arfgef3 G A 10: 18,591,347 P2035L probably benign Het
Atp13a3 C T 16: 30,351,228 probably null Het
Capn9 C A 8: 124,594,677 P151T probably damaging Het
Csrnp1 T A 9: 119,972,643 D450V probably damaging Het
Ctrb1 C T 8: 111,687,130 A201T possibly damaging Het
Erp27 T C 6: 136,911,546 T145A probably damaging Het
Fanca A T 8: 123,305,263 L256Q probably damaging Het
Fars2 G A 13: 36,537,380 V433I probably benign Het
Fbxo9 T A 9: 78,109,007 M1L probably benign Het
Fcnb C A 2: 28,084,830 V10F possibly damaging Het
Gad2 C T 2: 22,629,393 H175Y probably damaging Het
Get4 G A 5: 139,252,499 G12D probably benign Het
Gmpr2 T A 14: 55,678,301 I312N probably damaging Het
Golm1 T A 13: 59,638,377 M334L probably benign Het
Itgam T A 7: 128,116,300 F1054L possibly damaging Het
Kcnk7 C A 19: 5,706,473 probably benign Het
Kif3b G A 2: 153,316,893 A205T probably damaging Het
Macf1 C T 4: 123,512,866 V276M probably damaging Het
Mdga2 T A 12: 66,550,575 N715I probably damaging Het
Mfap5 T A 6: 122,526,787 S103R possibly damaging Het
Nckap1 C T 2: 80,517,982 V876M probably damaging Het
Ncor1 A T 11: 62,333,659 probably benign Het
Nfya G A 17: 48,393,276 Q122* probably null Het
Nup210l G A 3: 90,104,164 probably benign Het
Pcdhb19 T A 18: 37,498,808 L552Q probably damaging Het
Psmd2 T A 16: 20,654,647 S153T probably benign Het
Ptpn4 T C 1: 119,682,722 Y685C probably damaging Het
Rad54l2 T C 9: 106,720,376 R144G probably damaging Het
S1pr4 A C 10: 81,499,021 Y206* probably null Het
Slc39a14 A G 14: 70,316,436 probably null Het
Stx2 G A 5: 128,988,830 A254V probably damaging Het
Sumf2 G T 5: 129,859,870 G216C probably damaging Het
Tbc1d32 A G 10: 56,224,619 S88P probably benign Het
Trem1 T A 17: 48,232,796 M1K probably null Het
Trmt1l T C 1: 151,450,006 Y401H probably damaging Het
Ttc22 A T 4: 106,622,938 M130L probably damaging Het
Wnk1 T C 6: 119,963,328 E816G probably damaging Het
Wnt9b C T 11: 103,732,082 G165D probably damaging Het
Zscan21 A G 5: 138,133,383 T390A probably damaging Het
Zswim7 G T 11: 62,268,755 C85* probably null Het
Other mutations in Olfr190
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00953:Olfr190 APN 16 59074689 nonsense probably null
IGL01011:Olfr190 APN 16 59074430 missense probably benign 0.10
IGL01453:Olfr190 APN 16 59074769 missense probably benign 0.00
IGL01978:Olfr190 APN 16 59074267 missense probably benign 0.33
IGL02423:Olfr190 APN 16 59074267 missense probably benign 0.33
IGL02628:Olfr190 APN 16 59074792 missense probably benign 0.01
R0220:Olfr190 UTSW 16 59074732 missense probably damaging 1.00
R0471:Olfr190 UTSW 16 59074270 missense probably benign 0.01
R1697:Olfr190 UTSW 16 59074907 missense probably damaging 1.00
R3009:Olfr190 UTSW 16 59074987 missense probably benign 0.01
R3011:Olfr190 UTSW 16 59074987 missense probably benign 0.01
R3027:Olfr190 UTSW 16 59074967 missense probably benign 0.00
R4080:Olfr190 UTSW 16 59074256 missense probably damaging 0.96
R4482:Olfr190 UTSW 16 59074923 missense probably benign 0.02
R4895:Olfr190 UTSW 16 59074657 missense probably benign 0.09
R5409:Olfr190 UTSW 16 59074196 missense possibly damaging 0.94
R5825:Olfr190 UTSW 16 59074661 missense probably benign 0.01
R6146:Olfr190 UTSW 16 59074714 missense probably benign 0.05
R6249:Olfr190 UTSW 16 59074432 missense probably damaging 1.00
R6996:Olfr190 UTSW 16 59074192 missense probably benign 0.00
Posted On2015-04-16