Incidental Mutation 'IGL01447:Olfr122'
ID84447
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: 0.073) question?
Stock #IGL01447
Quality Score
Status
Chromosome17
Chromosomal Location37768607-37773749 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 37772231 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 193 (L193F)
Ref Sequence ENSEMBL: ENSMUSP00000149334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119082] [ENSMUST00000172582] [ENSMUST00000217119]
Predicted Effect probably damaging
Transcript: ENSMUST00000119082
AA Change: L202F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113170
Gene: ENSMUSG00000083947
AA Change: L202F

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 damaging
Transcript: ENSMUST00000172582
AA Change: L193F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134283
Gene: ENSMUSG00000083947
AA Change: L193F

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 damaging
Transcript: ENSMUST00000217119
AA Change: L193F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik A T 14: 49,768,466 S591T probably damaging Het
Apbb1ip T G 2: 22,853,182 I342S probably damaging Het
Atp6v1e1 T C 6: 120,795,693 probably benign Het
Brwd1 A T 16: 96,047,379 C533* probably null Het
Cacna2d4 A G 6: 119,242,904 S212G probably damaging Het
Cit T C 5: 115,873,843 probably benign Het
Clca1 C T 3: 145,007,778 M697I probably benign Het
Cmklr1 T C 5: 113,614,221 T240A probably benign Het
D630003M21Rik T C 2: 158,217,356 D208G probably benign Het
Egr3 C A 14: 70,079,283 P143Q probably damaging Het
Fbxw18 T A 9: 109,701,607 S41C probably damaging Het
Focad T A 4: 88,326,228 I815N unknown Het
Heatr5b T C 17: 78,829,597 T165A probably benign Het
Iqub G T 6: 24,505,628 L94I probably benign Het
Lrrc32 T C 7: 98,498,376 L121P probably damaging Het
Mansc1 G A 6: 134,617,326 L118F probably damaging Het
Mtor A G 4: 148,530,757 H1693R possibly damaging Het
Muc5b A G 7: 141,863,094 Q3259R probably benign Het
Nmnat2 A G 1: 153,112,443 S273G possibly damaging Het
Npr2 T C 4: 43,640,554 C336R possibly damaging Het
Olfr1110 A T 2: 87,135,999 Y107* probably null Het
Olfr1163 T C 2: 88,071,124 N86S possibly damaging Het
Olfr161 A G 16: 3,592,984 N196S possibly damaging Het
Olfr339 A T 2: 36,421,454 I19F probably damaging Het
Olfr504 A G 7: 108,565,009 V262A possibly damaging Het
Rad54l2 C T 9: 106,702,772 A967T probably damaging Het
Rspo1 T C 4: 125,005,036 V50A possibly damaging Het
Sar1b C T 11: 51,791,447 probably benign Het
Scamp1 C T 13: 94,204,022 A280T probably damaging Het
Spcs2 A G 7: 99,839,704 I251T probably benign Het
Sspo G T 6: 48,464,666 probably null Het
Tpm2 T A 4: 43,518,251 K251* probably null Het
Ttn A G 2: 76,740,906 S26548P probably damaging Het
Ugcg T G 4: 59,213,865 V149G possibly damaging Het
Unc79 T A 12: 103,078,918 N784K probably damaging Het
Vit A G 17: 78,625,204 D580G probably damaging Het
Vmn1r83 T C 7: 12,321,497 K211R probably benign Het
Wisp2 A G 2: 163,829,022 R150G probably damaging Het
Zbtb3 A G 19: 8,804,316 Y431C probably damaging Het
Zfp608 T C 18: 54,899,011 D619G possibly damaging Het
Other mutations in Olfr122
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00954:Olfr122 APN 17 37772614 missense probably benign 0.00
IGL01338:Olfr122 APN 17 37771839 missense possibly damaging 0.90
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
Posted On2013-11-11