Incidental Mutation 'IGL01317:Olfr1308'
ID73883
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: 0.079) question?
Stock #IGL01317
Quality Score
Status
Chromosome2
Chromosomal Location111959285-111964944 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 111960275 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 266 (H266L)
Ref Sequence ENSEMBL: ENSMUSP00000146688 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099605] [ENSMUST00000207560]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099605
AA Change: H266L

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097200
Gene: ENSMUSG00000074952
AA Change: H266L

DomainStartEndE-ValueType
Pfam:7tm_4 30 305 2.2e-39 PFAM
Pfam:7tm_1 41 287 3.1e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000207560
AA Change: H266L

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 24,872,581 D609E probably damaging Het
Aldh3b1 T C 19: 3,918,104 I352V probably benign Het
Apeh A T 9: 108,086,207 S605R probably benign Het
Arhgap32 A G 9: 32,256,964 K748E probably benign Het
Avpr1a T C 10: 122,449,567 S255P probably benign Het
Cadps2 T A 6: 23,314,173 D1124V possibly damaging Het
Cask C T X: 13,522,260 E83K probably damaging Het
Ccdc129 G T 6: 55,967,805 A504S possibly damaging Het
Cep170b A G 12: 112,737,644 Y670C probably damaging Het
Chd3 A G 11: 69,353,211 Y1343H probably damaging Het
Cit T A 5: 115,908,716 V396D probably benign Het
Cldn18 T C 9: 99,696,082 T203A probably benign Het
Dido1 A C 2: 180,671,757 N907K probably benign Het
Dmbt1 T A 7: 131,041,191 D246E probably damaging Het
Dph1 T C 11: 75,180,660 H303R probably benign Het
Dspp T A 5: 104,174,048 Y8N probably damaging Het
Efhc2 C T X: 17,204,959 probably benign Het
Fam160a1 T C 3: 85,672,846 D684G probably benign Het
Fam171a1 T A 2: 3,202,626 V215E probably damaging Het
Foxm1 T A 6: 128,367,353 M22K probably damaging Het
Gdpd4 A C 7: 97,998,258 M371L possibly damaging Het
Hdac9 T C 12: 34,429,489 probably benign Het
Heatr1 T A 13: 12,399,027 W162R probably damaging Het
Hydin A T 8: 110,326,446 D250V probably damaging Het
Itga4 T A 2: 79,322,661 C897* probably null Het
Kcnd2 T C 6: 21,727,340 *631Q probably null Het
Kcnn2 A G 18: 45,560,627 probably null Het
Lama1 A T 17: 67,818,701 E2951V probably damaging Het
Lyst A G 13: 13,670,870 Q1944R probably benign Het
Mmp14 A G 14: 54,435,790 T52A possibly damaging Het
Mrgpra1 A T 7: 47,335,624 N102K probably benign Het
Mrpl28 G A 17: 26,125,515 G205D probably damaging Het
Mtmr4 T C 11: 87,602,404 probably benign Het
Oog2 A G 4: 144,195,267 N249S probably benign Het
Ppp6r2 T A 15: 89,285,928 V882E possibly damaging Het
Qser1 A C 2: 104,786,979 Y1073D probably damaging Het
Rbl2 C A 8: 91,100,057 D480E probably damaging Het
Rfx7 G A 9: 72,618,536 G1003S probably damaging Het
Rrh A C 3: 129,822,425 F20V possibly damaging Het
Rwdd3 A G 3: 121,171,633 I15T possibly damaging Het
Sestd1 A T 2: 77,192,545 M493K possibly damaging Het
Slc17a8 T A 10: 89,620,804 L32F probably benign Het
Slc29a4 A G 5: 142,705,530 D55G probably benign Het
Tbc1d10a A T 11: 4,212,826 Y223F probably benign Het
Tbx20 A G 9: 24,769,755 V147A probably damaging Het
Tmem63c A T 12: 87,071,996 probably benign Het
Tmtc2 C A 10: 105,413,785 R29L probably damaging Het
Ttc21b T A 2: 66,188,356 M1236L probably benign Het
Unc119 T A 11: 78,347,226 C12S probably damaging Het
Vcan A G 13: 89,691,668 M1919T probably benign Het
Zmat4 C A 8: 23,902,169 T47K probably benign Het
Other mutations in Olfr1308
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02969:Olfr1308 APN 2 111960567 missense probably damaging 1.00
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
R7917:Olfr1308 UTSW 2 111960965 missense probably damaging 0.98
R8017:Olfr1308 UTSW 2 111960573 missense probably damaging 0.99
R8092:Olfr1308 UTSW 2 111960307 missense probably benign 0.00
R8246:Olfr1308 UTSW 2 111960138 missense probably benign 0.05
Posted On2013-10-07