Incidental Mutation 'IGL03228:Olfr164'
ID413782
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr164
Ensembl Gene ENSMUSG00000050742
Gene Nameolfactory receptor 164
SynonymsGA_x54KRFPKG5P-15738260-15737319, MOR279-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL03228
Quality Score
Status
Chromosome16
Chromosomal Location19284104-19314064 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 19286390 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Valine at position 118 (L118V)
Ref Sequence ENSEMBL: ENSMUSP00000149971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056727] [ENSMUST00000216157]
Predicted Effect probably damaging
Transcript: ENSMUST00000056727
AA Change: L118V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056970
Gene: ENSMUSG00000050742
AA Change: L118V

DomainStartEndE-ValueType
Pfam:7tm_4 32 311 2.3e-49 PFAM
Pfam:7TM_GPCR_Srsx 38 308 8.2e-8 PFAM
Pfam:7tm_1 44 293 5.9e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216157
AA Change: L118V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid3a G A 10: 79,950,744 V444I possibly damaging Het
Catsperg2 T C 7: 29,698,225 Y1021C probably damaging Het
Cbx1 A G 11: 96,800,805 probably benign Het
Cdk15 G T 1: 59,258,753 K106N possibly damaging Het
Itpkb A T 1: 180,413,999 R745W probably damaging Het
Kdr T A 5: 75,957,048 I682F probably damaging Het
Klhl1 T A 14: 96,240,327 E435V probably damaging Het
Lamp3 T A 16: 19,676,067 Y296F possibly damaging Het
Ltb4r2 A T 14: 55,761,951 N10Y probably damaging Het
Mmrn1 C T 6: 60,944,892 P111L probably benign Het
Nt5c A G 11: 115,491,161 Y107H probably damaging Het
Olfr1099 A G 2: 86,958,706 F251L probably benign Het
Olfr473 T A 7: 107,934,123 I201N possibly damaging Het
Piezo2 T A 18: 63,053,062 S1679C probably damaging Het
Plac8l1 T A 18: 42,192,607 S78C probably damaging Het
Scyl2 A T 10: 89,650,080 I549N probably damaging Het
Slc51a G A 16: 32,478,750 R110C probably damaging Het
Slc6a20b G T 9: 123,632,132 Y65* probably null Het
Stx11 G A 10: 12,941,212 T256M probably benign Het
Syne2 T C 12: 75,979,912 C3505R probably benign Het
Trim75 A G 8: 64,983,354 L148P probably benign Het
Ubr4 T A 4: 139,429,598 N2311K probably damaging Het
Zfp553 A G 7: 127,236,077 H268R probably damaging Het
Other mutations in Olfr164
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01529:Olfr164 APN 16 19286700 missense probably benign 0.01
IGL01569:Olfr164 APN 16 19286660 missense probably benign 0.28
IGL01619:Olfr164 APN 16 19286159 missense probably damaging 1.00
IGL02101:Olfr164 APN 16 19286613 missense probably benign
IGL02201:Olfr164 APN 16 19286462 missense probably benign 0.03
IGL02730:Olfr164 APN 16 19286682 missense probably benign 0.00
R1566:Olfr164 UTSW 16 19286327 missense possibly damaging 0.76
R1817:Olfr164 UTSW 16 19285877 missense probably damaging 1.00
R1870:Olfr164 UTSW 16 19286607 missense probably damaging 1.00
R1918:Olfr164 UTSW 16 19286302 missense probably benign 0.03
R2202:Olfr164 UTSW 16 19286297 missense probably benign 0.03
R2265:Olfr164 UTSW 16 19286555 missense probably damaging 1.00
R3792:Olfr164 UTSW 16 19285946 missense possibly damaging 0.54
R4285:Olfr164 UTSW 16 19285964 missense probably damaging 1.00
R4961:Olfr164 UTSW 16 19285976 missense probably damaging 1.00
R5022:Olfr164 UTSW 16 19286059 missense probably damaging 1.00
R5432:Olfr164 UTSW 16 19286089 missense probably benign 0.06
R5827:Olfr164 UTSW 16 19286432 missense probably benign 0.24
R6154:Olfr164 UTSW 16 19286431 missense probably damaging 0.99
R6188:Olfr164 UTSW 16 19286557 missense probably damaging 1.00
R6367:Olfr164 UTSW 16 19286072 missense probably damaging 1.00
Posted On2016-08-02