Incidental Mutation 'IGL02261:Olfr1178'
ID286759
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1178
Ensembl Gene ENSMUSG00000056995
Gene Nameolfactory receptor 1178
SynonymsGA_x6K02T2Q125-49870417-49871388, MOR225-6P
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #IGL02261
Quality Score
Status
Chromosome2
Chromosomal Location88387062-88400799 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 88391381 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 45 (I45V)
Ref Sequence ENSEMBL: ENSMUSP00000150036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075640] [ENSMUST00000214040]
Predicted Effect probably benign
Transcript: ENSMUST00000075640
AA Change: I45V

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000075066
Gene: ENSMUSG00000056995
AA Change: I45V

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.5e-49 PFAM
Pfam:7tm_1 39 285 7.2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214040
AA Change: I45V

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217346
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219086
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambn G A 5: 88,456,948 V27M probably damaging Het
Ank1 A G 8: 23,087,999 N222D probably damaging Het
Bcas3 A T 11: 85,531,930 T542S probably damaging Het
Btbd1 A T 7: 81,805,759 I288N probably damaging Het
Ctps C T 4: 120,542,579 V500I possibly damaging Het
Cul5 A C 9: 53,635,037 V345G probably damaging Het
Dchs1 A G 7: 105,772,569 Y215H probably damaging Het
Dmxl1 T A 18: 49,840,499 M67K possibly damaging Het
Egln2 C T 7: 27,159,866 E353K possibly damaging Het
Fbxw5 G T 2: 25,503,734 A325S probably benign Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gaa A G 11: 119,281,265 *207W probably null Het
Herc2 A G 7: 56,206,744 T3947A probably damaging Het
Ifit2 T A 19: 34,574,224 I388N probably damaging Het
Ikzf4 T C 10: 128,636,722 T209A possibly damaging Het
Il17re A T 6: 113,468,511 probably benign Het
Insrr T A 3: 87,800,722 L157Q probably damaging Het
Kcnq2 T G 2: 181,081,690 Y631S probably damaging Het
Lrrfip1 A G 1: 91,112,168 I198V probably benign Het
Mir7684 A T 15: 82,389,144 probably benign Het
Mphosph9 C T 5: 124,260,087 E1049K probably damaging Het
Mroh1 G A 15: 76,429,160 R611Q probably benign Het
Mynn A T 3: 30,607,131 I121F possibly damaging Het
Ndrg2 G A 14: 51,911,109 R32C probably damaging Het
Olfr324 T C 11: 58,597,804 I138T probably benign Het
Ppp1r9b A G 11: 95,002,110 E260G probably damaging Het
Psd4 A G 2: 24,401,744 S652G probably damaging Het
Psg25 C T 7: 18,521,343 R416H probably benign Het
Pygm T A 19: 6,388,271 N171K probably damaging Het
Rbm46 A T 3: 82,864,416 D297E possibly damaging Het
Selenov T A 7: 28,290,579 T167S probably benign Het
Serpina10 T C 12: 103,616,949 Y358C probably damaging Het
Slc27a3 T C 3: 90,387,695 R352G probably benign Het
Snx33 T C 9: 56,926,578 D69G probably benign Het
St8sia2 G T 7: 73,966,846 P127H probably damaging Het
Thbd T C 2: 148,406,481 K489R probably benign Het
Ttn A T 2: 76,936,705 C3039S probably damaging Het
Vmn1r167 T C 7: 23,504,836 M252V probably benign Het
Xdh A G 17: 73,913,965 S590P possibly damaging Het
Zfp827 G A 8: 79,180,079 V907I probably damaging Het
Other mutations in Olfr1178
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Olfr1178 APN 2 88391901 missense possibly damaging 0.79
IGL03023:Olfr1178 APN 2 88391343 missense probably damaging 1.00
IGL03053:Olfr1178 APN 2 88391594 missense probably damaging 1.00
IGL03168:Olfr1178 APN 2 88391594 missense probably damaging 1.00
R0432:Olfr1178 UTSW 2 88392033 missense probably damaging 0.98
R1738:Olfr1178 UTSW 2 88391327 missense probably benign 0.01
R2051:Olfr1178 UTSW 2 88391538 missense possibly damaging 0.49
R2136:Olfr1178 UTSW 2 88391319 missense probably benign 0.24
R3236:Olfr1178 UTSW 2 88391406 missense probably benign 0.01
R4407:Olfr1178 UTSW 2 88392083 missense probably benign 0.37
R4930:Olfr1178 UTSW 2 88391940 missense probably benign 0.12
R4959:Olfr1178 UTSW 2 88391330 missense probably benign 0.37
R4973:Olfr1178 UTSW 2 88391330 missense probably benign 0.37
R5178:Olfr1178 UTSW 2 88391475 missense possibly damaging 0.50
R5411:Olfr1178 UTSW 2 88391261 missense probably benign 0.01
R6282:Olfr1178 UTSW 2 88391533 nonsense probably null
R7289:Olfr1178 UTSW 2 88391706 missense probably damaging 0.99
R7493:Olfr1178 UTSW 2 88391880 missense possibly damaging 0.94
R7591:Olfr1178 UTSW 2 88391876 missense probably benign 0.17
R8060:Olfr1178 UTSW 2 88391504 missense probably benign 0.00
R8242:Olfr1178 UTSW 2 88392074 missense possibly damaging 0.50
Z1176:Olfr1178 UTSW 2 88392033 missense probably damaging 1.00
Posted On2015-04-16