Incidental Mutation 'IGL02419:Olfr228'
ID292560
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr228
Ensembl Gene ENSMUSG00000111772
Gene Name
SynonymsMOR189-3, GA_x6K02T0101M-139-669
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #IGL02419
Quality Score
Status
Chromosome2
Chromosomal Location86481921-86487386 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 86482915 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 276 (I276F)
Gene Model predicted gene model for transcript(s): [ENSMUST00000216534] [ENSMUST00000217292]
Predicted Effect probably damaging
Transcript: ENSMUST00000099883
AA Change: I276F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097468
Gene: ENSMUSG00000075180
AA Change: I276F

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 1.5e-54 PFAM
Pfam:7tm_1 41 290 5.6e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216534
AA Change: I276F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000217292
AA Change: I276F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik T C 8: 87,586,099 F171L possibly damaging Het
Abca2 A G 2: 25,446,837 N2291D probably benign Het
Adamts9 A G 6: 92,796,997 V1145A probably benign Het
Adcy2 A G 13: 68,982,363 V135A probably benign Het
Akr1c14 A T 13: 4,080,617 probably null Het
Aptx G T 4: 40,691,032 A229E probably benign Het
Ash1l T C 3: 88,985,565 S1584P probably benign Het
Catsper3 A T 13: 55,808,068 T329S possibly damaging Het
Cntrl A G 2: 35,134,043 D27G probably damaging Het
Cobll1 A T 2: 65,151,048 I98K probably damaging Het
Ctdp1 T C 18: 80,420,584 K79R probably damaging Het
Cwf19l2 T C 9: 3,418,777 probably null Het
Cyp11b2 A T 15: 74,851,055 F498Y probably damaging Het
Dnpep A G 1: 75,315,688 I162T probably damaging Het
Efcab9 T C 11: 32,522,950 I166V probably benign Het
Ep400 A T 5: 110,697,376 probably null Het
Gata6 G A 18: 11,054,220 G50R probably damaging Het
Gm9631 G A 11: 121,943,652 Het
Grifin T C 5: 140,564,700 T20A probably benign Het
Hnf4a A T 2: 163,566,282 I352F probably damaging Het
Ifi204 T C 1: 173,749,380 T552A possibly damaging Het
Ifi205 C T 1: 174,017,614 A201T probably damaging Het
Kcnk6 A G 7: 29,225,202 V259A probably benign Het
Kif21b A G 1: 136,151,267 N451S probably benign Het
Klhl24 T A 16: 20,107,368 Y215* probably null Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mical1 A G 10: 41,482,277 K429E possibly damaging Het
Misp A G 10: 79,827,871 probably benign Het
Mon2 T C 10: 123,016,447 N1007S probably benign Het
Olfr1420 A T 19: 11,896,822 Y267F probably benign Het
Olfr307 C A 7: 86,335,662 V245F probably damaging Het
Olfr624 A T 7: 103,670,475 C185* probably null Het
Pex6 C A 17: 46,724,435 T840N possibly damaging Het
Prox1 C T 1: 190,161,130 A373T probably benign Het
Rapgef3 G T 15: 97,750,290 N679K probably benign Het
Serpina3n T C 12: 104,413,518 V390A possibly damaging Het
Sirpb1a A G 3: 15,426,338 F23S probably benign Het
Slc44a3 T C 3: 121,490,257 T449A probably benign Het
Smad6 G A 9: 63,953,518 probably benign Het
Sos2 C T 12: 69,616,990 M573I probably benign Het
St8sia1 A T 6: 142,828,935 I306N probably damaging Het
Tnks1bp1 T C 2: 85,071,781 S1674P possibly damaging Het
Trim47 G A 11: 116,106,201 R576W probably damaging Het
Wdr86 A T 5: 24,722,704 I79N probably damaging Het
Wwp2 T A 8: 107,549,815 V473D probably damaging Het
Zc3h12a T C 4: 125,119,788 T428A probably benign Het
Zfp592 A G 7: 81,038,245 E973G probably damaging Het
Other mutations in Olfr228
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Olfr228 APN 2 86483218 missense probably benign 0.05
IGL02136:Olfr228 APN 2 86483465 missense probably damaging 1.00
IGL03008:Olfr228 APN 2 86483334 missense probably damaging 1.00
R0240:Olfr228 UTSW 2 86483386 missense possibly damaging 0.78
R0240:Olfr228 UTSW 2 86483386 missense possibly damaging 0.78
R1073:Olfr228 UTSW 2 86483640 missense probably damaging 0.98
R1163:Olfr228 UTSW 2 86483238 missense probably damaging 1.00
R1505:Olfr228 UTSW 2 86483213 missense possibly damaging 0.94
R1806:Olfr228 UTSW 2 86483139 missense probably damaging 0.99
R1940:Olfr228 UTSW 2 86483359 nonsense probably null
R3025:Olfr228 UTSW 2 86483739 start codon destroyed probably null 1.00
R3037:Olfr228 UTSW 2 86483643 missense probably damaging 0.96
R5156:Olfr228 UTSW 2 86483018 nonsense probably null
R6459:Olfr228 UTSW 2 86483229 missense probably benign 0.23
R6472:Olfr228 UTSW 2 86483190 nonsense probably null
R6493:Olfr228 UTSW 2 86483221 missense possibly damaging 0.59
R6880:Olfr228 UTSW 2 86483725 missense probably benign
X0028:Olfr228 UTSW 2 86482890 missense probably damaging 0.99
Posted On2015-04-16