Incidental Mutation 'IGL01964:Olfr178'
ID181496
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr178
Ensembl Gene ENSMUSG00000044029
Gene Nameolfactory receptor 178
SynonymsGA_x54KRFPKG5P-55108059-55107100, MOR184-6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #IGL01964
Quality Score
Status
Chromosome16
Chromosomal Location58888308-58892063 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 58889464 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 252 (I252K)
Ref Sequence ENSEMBL: ENSMUSP00000148922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058564] [ENSMUST00000206523] [ENSMUST00000215032]
Predicted Effect probably damaging
Transcript: ENSMUST00000058564
AA Change: I252K

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000049578
Gene: ENSMUSG00000044029
AA Change: I252K

DomainStartEndE-ValueType
Pfam:7tm_4 33 306 1.2e-49 PFAM
Pfam:7TM_GPCR_Srsx 37 262 4.4e-7 PFAM
Pfam:7tm_1 43 312 5.2e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000206523
AA Change: I252K

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000215032
AA Change: I252K

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aknad1 T C 3: 108,778,277 V579A probably benign Het
Ankrd11 A G 8: 122,889,736 I2438T probably damaging Het
Cdh11 A G 8: 102,664,743 V287A probably benign Het
Cdyl2 G A 8: 116,624,029 S121L probably benign Het
Cyp2e1 A T 7: 140,763,866 I6F probably damaging Het
Cyp3a16 A T 5: 145,455,562 D194E probably benign Het
Eapp G T 12: 54,685,935 P126Q probably damaging Het
Efr3b A T 12: 3,982,928 L143Q probably damaging Het
Gm5346 A C 8: 43,626,761 I142S probably benign Het
Grin2c C T 11: 115,253,847 E618K probably damaging Het
Haus3 A T 5: 34,166,061 Y402N probably benign Het
Iffo1 A G 6: 125,151,401 D316G probably damaging Het
Kctd19 A T 8: 105,388,525 M468K probably damaging Het
Kdm4b T A 17: 56,389,256 probably null Het
Naip6 T A 13: 100,298,730 probably benign Het
Polr3c T C 3: 96,711,975 probably benign Het
Poteg A T 8: 27,448,008 E60V probably damaging Het
Rnd2 T C 11: 101,470,806 probably null Het
Rufy3 A G 5: 88,615,070 Q153R probably damaging Het
Shank1 T A 7: 44,325,678 I399N unknown Het
Sin3a T C 9: 57,107,347 probably benign Het
Sppl2b T A 10: 80,865,386 probably null Het
Srgap1 G A 10: 121,804,966 P665L possibly damaging Het
Srgap2 G T 1: 131,289,578 Q999K probably benign Het
Tbxas1 G A 6: 39,083,814 V496I probably benign Het
Vmn1r198 A G 13: 22,354,406 M21V probably benign Het
Wdr90 T C 17: 25,848,409 I1479V probably benign Het
Other mutations in Olfr178
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00953:Olfr178 APN 16 58889685 missense probably damaging 0.97
IGL02122:Olfr178 APN 16 58889771 missense probably benign
IGL02183:Olfr178 APN 16 58889821 missense probably benign 0.00
IGL03143:Olfr178 APN 16 58889461 missense probably damaging 1.00
R1566:Olfr178 UTSW 16 58889540 missense probably damaging 1.00
R2324:Olfr178 UTSW 16 58890140 missense probably benign
R2420:Olfr178 UTSW 16 58889965 missense probably benign 0.00
R2421:Olfr178 UTSW 16 58889965 missense probably benign 0.00
R2422:Olfr178 UTSW 16 58889965 missense probably benign 0.00
R4256:Olfr178 UTSW 16 58889780 missense probably benign 0.21
R4374:Olfr178 UTSW 16 58889879 missense probably benign 0.13
R4502:Olfr178 UTSW 16 58890176 missense probably benign 0.02
R4503:Olfr178 UTSW 16 58890176 missense probably benign 0.02
R4662:Olfr178 UTSW 16 58889924 missense probably damaging 1.00
R4967:Olfr178 UTSW 16 58889594 missense possibly damaging 0.48
R5206:Olfr178 UTSW 16 58890018 missense probably damaging 0.99
R5285:Olfr178 UTSW 16 58890108 nonsense probably null
R5477:Olfr178 UTSW 16 58889744 missense probably benign 0.10
R5554:Olfr178 UTSW 16 58889806 missense possibly damaging 0.95
R5723:Olfr178 UTSW 16 58889613 nonsense probably null
R5725:Olfr178 UTSW 16 58889887 missense possibly damaging 0.64
R6853:Olfr178 UTSW 16 58889758 missense possibly damaging 0.64
R6853:Olfr178 UTSW 16 58889759 missense probably damaging 0.99
Posted On2014-05-07