Incidental Mutation 'IGL02969:Olfr1308'
ID365716
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1308
Ensembl Gene ENSMUSG00000074952
Gene Nameolfactory receptor 1308
SynonymsMOR245-22, GA_x6K02T2Q125-73008844-73007882
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL02969
Quality Score
Status
Chromosome2
Chromosomal Location111959285-111964944 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 111960567 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 169 (C169S)
Ref Sequence ENSEMBL: ENSMUSP00000146688 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099605] [ENSMUST00000207560]
Predicted Effect probably damaging
Transcript: ENSMUST00000099605
AA Change: C169S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097200
Gene: ENSMUSG00000074952
AA Change: C169S

DomainStartEndE-ValueType
Pfam:7tm_4 30 305 2.2e-39 PFAM
Pfam:7tm_1 41 287 3.1e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207560
AA Change: C169S

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik A G 8: 79,220,237 probably benign Het
1700061G19Rik A T 17: 56,883,751 T440S probably damaging Het
Akap12 T A 10: 4,354,864 V558E probably damaging Het
Atg4c T C 4: 99,258,387 probably benign Het
Atg7 T A 6: 114,724,923 N673K possibly damaging Het
BC005561 C T 5: 104,519,343 T577I probably benign Het
Brpf3 A G 17: 28,821,305 D900G probably benign Het
C2cd5 T C 6: 143,079,943 Y176C probably damaging Het
Cep70 A T 9: 99,298,504 I571F possibly damaging Het
Cir1 C T 2: 73,303,776 G150R probably null Het
Cyp46a1 T C 12: 108,343,037 V68A probably damaging Het
Dlgap2 A G 8: 14,831,579 T883A possibly damaging Het
Dnah2 C A 11: 69,521,187 K249N possibly damaging Het
Dnajc11 A G 4: 151,978,046 K434R probably benign Het
Eri3 A G 4: 117,649,311 Y279C probably damaging Het
Gm3259 C T 5: 95,341,399 P234S probably benign Het
Hectd4 T A 5: 121,365,053 Y4362N possibly damaging Het
Ilk A G 7: 105,740,340 K85E possibly damaging Het
Insrr G T 3: 87,814,191 G1135* probably null Het
Itgax T A 7: 128,149,123 M1108K probably benign Het
Mpzl3 C T 9: 45,068,216 T155I probably benign Het
Olfr805 A T 10: 129,723,196 M116K probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Polr2h A G 16: 20,719,057 Y68C probably damaging Het
Rhobtb3 A G 13: 75,943,431 S2P probably damaging Het
Slc24a5 T C 2: 125,083,227 S263P probably damaging Het
Spz1 T G 13: 92,575,343 K208N possibly damaging Het
Tbpl2 C A 2: 24,091,093 C231F probably damaging Het
Tdrd6 T C 17: 43,627,549 I869M probably damaging Het
Tesk1 G A 4: 43,447,027 E472K possibly damaging Het
Tesk1 C A 4: 43,447,026 C471* probably null Het
Tmem213 T A 6: 38,115,666 V111E probably damaging Het
Tmem232 A T 17: 65,256,563 Y612N possibly damaging Het
Ttn T C 2: 76,899,363 probably benign Het
Vmn2r113 G A 17: 22,958,617 V792I probably benign Het
Wdfy1 A G 1: 79,713,871 V273A probably benign Het
Wwp1 A G 4: 19,623,200 S762P probably damaging Het
Other mutations in Olfr1308
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01317:Olfr1308 APN 2 111960275 missense possibly damaging 0.84
IGL01359:Olfr1308 APN 2 111961061 missense probably benign
IGL01731:Olfr1308 APN 2 111960635 missense probably benign 0.03
IGL01788:Olfr1308 APN 2 111961007 missense probably benign
IGL02385:Olfr1308 APN 2 111960258 missense probably benign 0.00
R0102:Olfr1308 UTSW 2 111960597 missense probably damaging 1.00
R0102:Olfr1308 UTSW 2 111960597 missense probably damaging 1.00
R0244:Olfr1308 UTSW 2 111961016 missense probably benign 0.13
R0265:Olfr1308 UTSW 2 111960494 missense probably damaging 0.99
R1268:Olfr1308 UTSW 2 111960877 missense possibly damaging 0.78
R1406:Olfr1308 UTSW 2 111960581 missense probably benign 0.07
R1406:Olfr1308 UTSW 2 111960581 missense probably benign 0.07
R1568:Olfr1308 UTSW 2 111960240 missense probably benign 0.02
R2401:Olfr1308 UTSW 2 111960149 missense probably benign 0.01
R4396:Olfr1308 UTSW 2 111960215 missense probably damaging 1.00
R4528:Olfr1308 UTSW 2 111960948 missense probably damaging 1.00
R5916:Olfr1308 UTSW 2 111960830 missense probably damaging 1.00
R6332:Olfr1308 UTSW 2 111960746 missense probably damaging 0.98
R6595:Olfr1308 UTSW 2 111960170 missense possibly damaging 0.95
R7339:Olfr1308 UTSW 2 111960611 missense probably benign 0.12
Posted On2015-12-18