Incidental Mutation 'IGL00954:Olfr122'
ID29312
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr122
Ensembl Gene ENSMUSG00000083947
Gene Nameolfactory receptor 122
SynonymsMOR263-10, GA_x6K02T2PSCP-2230932-2231897
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.154) question?
Stock #IGL00954
Quality Score
Status
Chromosome17
Chromosomal Location37768607-37773749 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 37772614 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 329 (N329K)
Ref Sequence ENSEMBL: ENSMUSP00000113170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119082] [ENSMUST00000172582] [ENSMUST00000217119]
Predicted Effect probably benign
Transcript: ENSMUST00000119082
AA Change: N329K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113170
Gene: ENSMUSG00000083947
AA Change: N329K

DomainStartEndE-ValueType
Pfam:7tm_4 46 323 2.2e-58 PFAM
Pfam:7TM_GPCR_Srsx 50 320 2.7e-6 PFAM
Pfam:7tm_1 56 305 3.8e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172582
AA Change: N320K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134283
Gene: ENSMUSG00000083947
AA Change: N320K

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 41 311 9.5e-8 PFAM
Pfam:7tm_1 47 296 7.8e-36 PFAM
Pfam:7tm_4 145 289 1e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215449
Predicted Effect probably benign
Transcript: ENSMUST00000217119
AA Change: N320K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 C T 18: 61,839,685 probably benign Het
Alox5 A T 6: 116,454,299 V56D probably damaging Het
Atp1a2 A G 1: 172,290,634 S158P probably damaging Het
B3glct T A 5: 149,696,437 M19K probably benign Het
BC049715 A T 6: 136,840,095 E111V possibly damaging Het
Casp8ap2 C A 4: 32,645,403 T1492K probably damaging Het
Cfap221 T C 1: 119,934,209 E612G probably damaging Het
Cttnbp2 C A 6: 18,381,062 K868N possibly damaging Het
Dpy19l2 T A 9: 24,582,818 N672I probably damaging Het
Ei24 A T 9: 36,789,870 I51N probably damaging Het
Gdi2 T C 13: 3,556,467 V181A probably benign Het
Ggt1 G A 10: 75,584,863 R354Q probably benign Het
H2afy A G 13: 56,074,319 S340P possibly damaging Het
Hao1 A G 2: 134,498,261 I370T possibly damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Jag2 G T 12: 112,920,406 S184R possibly damaging Het
Kctd16 A G 18: 40,258,800 D147G probably benign Het
Kiss1r T C 10: 79,922,000 L396P probably damaging Het
Krt86 C T 15: 101,473,860 H104Y probably benign Het
Lrrc66 G T 5: 73,608,398 T434K possibly damaging Het
Mcm5 A T 8: 75,110,112 N64Y possibly damaging Het
Mroh2b A T 15: 4,903,054 Y54F probably damaging Het
Olfr830 T A 9: 18,876,073 S249T probably benign Het
Osgep T A 14: 50,916,162 I320F probably benign Het
Pcdh18 T A 3: 49,756,389 D159V probably damaging Het
Phf20l1 G A 15: 66,641,908 V978I probably damaging Het
Phospho1 T A 11: 95,831,083 V193E probably damaging Het
Pip4k2b T C 11: 97,744,505 K34E probably damaging Het
Plb1 T C 5: 32,298,514 probably benign Het
Safb2 A G 17: 56,578,639 probably null Het
Sgsh T A 11: 119,346,485 E434D probably benign Het
Tkt C T 14: 30,569,095 H355Y probably damaging Het
Tmem128 A G 5: 38,262,045 N47S probably damaging Het
Tmem232 A G 17: 65,500,153 I15T probably damaging Het
Tns1 A C 1: 73,924,969 V1501G probably damaging Het
Vmn2r24 G A 6: 123,815,637 C641Y probably damaging Het
Vmn2r77 A G 7: 86,800,767 T74A probably benign Het
Zfp820 T C 17: 21,819,879 Y156C probably damaging Het
Other mutations in Olfr122
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01338:Olfr122 APN 17 37771839 missense possibly damaging 0.90
IGL01447:Olfr122 APN 17 37772231 missense probably damaging 1.00
PIT4514001:Olfr122 UTSW 17 37771867 missense probably damaging 1.00
R0402:Olfr122 UTSW 17 37772393 missense probably damaging 1.00
R0830:Olfr122 UTSW 17 37771913 missense probably damaging 0.99
R2018:Olfr122 UTSW 17 37772576 missense probably benign 0.00
R4258:Olfr122 UTSW 17 37772058 missense probably damaging 1.00
R6371:Olfr122 UTSW 17 37772435 missense probably benign
R6481:Olfr122 UTSW 17 37772303 missense probably damaging 1.00
R7468:Olfr122 UTSW 17 37772019 missense probably damaging 1.00
R7492:Olfr122 UTSW 17 37771680 missense possibly damaging 0.53
R8114:Olfr122 UTSW 17 37771989 missense possibly damaging 0.67
R8172:Olfr122 UTSW 17 37772435 missense probably benign
R8728:Olfr122 UTSW 17 37771751 missense probably damaging 1.00
R8894:Olfr122 UTSW 17 37772049 missense not run
Z1177:Olfr122 UTSW 17 37772191 missense possibly damaging 0.95
Posted On2013-04-17