Incidental Mutation 'R6706:Olfr1347'
ID528944
Institutional Source Beutler Lab
Gene Symbol Olfr1347
Ensembl Gene ENSMUSG00000034583
Gene Nameolfactory receptor 1347
SynonymsMOR103-11, MOR103-19_i, GA_x6K02T2QGBW-3218686-3217748
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.098) question?
Stock #R6706 (G1)
Quality Score173.009
Status Not validated
Chromosome7
Chromosomal Location6486944-6499755 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 6488050 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 275 (R275C)
Ref Sequence ENSEMBL: ENSMUSP00000152024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036357] [ENSMUST00000086318] [ENSMUST00000207339] [ENSMUST00000209055] [ENSMUST00000209866] [ENSMUST00000220413]
Predicted Effect probably damaging
Transcript: ENSMUST00000036357
AA Change: R268C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000046590
Gene: ENSMUSG00000034583
AA Change: R268C

DomainStartEndE-ValueType
Pfam:7tm_4 42 318 2.5e-50 PFAM
Pfam:7tm_1 52 301 2.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000086318
SMART Domains Protein: ENSMUSP00000083498
Gene: ENSMUSG00000096228

DomainStartEndE-ValueType
Pfam:7tm_4 35 311 2.1e-50 PFAM
Pfam:7tm_1 45 294 6.9e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207339
AA Change: R268C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000209055
Predicted Effect probably benign
Transcript: ENSMUST00000209866
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218572
Predicted Effect probably damaging
Transcript: ENSMUST00000220413
AA Change: R275C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 97% (36/37)
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
Adam34 T A 8: 43,651,442 K389* probably null Het
Adam6a T G 12: 113,545,266 F420V probably benign Het
Alpl T C 4: 137,746,429 T321A probably benign Het
Asxl3 A G 18: 22,453,609 D152G probably damaging Het
B4galt4 A G 16: 38,757,811 T207A probably benign Het
Bsph2 A T 7: 13,571,047 M1K probably null Het
Cacna2d1 T A 5: 16,326,340 L535Q probably damaging Het
Cacna2d3 T C 14: 29,124,685 probably null Het
Chrdl2 T C 7: 100,010,121 probably null Het
Ctdnep1 A G 11: 69,984,312 N54S probably benign Het
Dclre1a A T 19: 56,545,069 D364E probably benign Het
Dock1 A G 7: 135,133,886 I1328V possibly damaging Het
Eno4 A T 19: 58,970,680 E411D probably benign Het
Fbxl14 A G 6: 119,480,755 Y299C probably benign Het
Fhdc1 T C 3: 84,446,422 S499G probably damaging Het
Hectd4 C T 5: 121,320,084 T771I possibly damaging Het
Kansl3 A G 1: 36,344,914 probably null Het
Letm2 G A 8: 25,593,961 H85Y probably benign Het
Map3k6 A T 4: 133,250,939 K1031* probably null Het
Mfsd4b5 T A 10: 39,986,417 T37S probably benign Het
Mgam T A 6: 40,744,786 V346D probably benign Het
Myrip C T 9: 120,388,293 H98Y possibly damaging Het
Nos2 A G 11: 78,944,723 N443D possibly damaging Het
Notch2 A T 3: 98,138,430 D1637V possibly damaging Het
Olfr1260 T A 2: 89,978,585 V269E probably damaging Het
Pank1 C T 19: 34,812,386 G530D probably damaging Het
Pde4dip G T 3: 97,741,393 R1036S probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 probably benign Het
Plin2 T C 4: 86,660,120 T247A probably benign Het
Rp1 T A 1: 4,142,664 I1067F unknown Het
Serpinb9d T A 13: 33,196,558 N142K probably benign Het
Slc12a5 A G 2: 164,988,589 Y639C probably damaging Het
Tfap2c A G 2: 172,557,356 M508V probably benign Het
Tmprss11d T C 5: 86,331,103 N147S probably benign Het
Togaram1 T A 12: 65,002,609 N1273K probably benign Het
Ttn G A 2: 76,879,343 R1581* probably null Het
Uggt2 T A 14: 119,070,881 I363F probably damaging Het
Vmn2r63 T A 7: 42,928,577 D179V probably damaging Het
Other mutations in Olfr1347
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02395:Olfr1347 APN 7 6488803 missense possibly damaging 0.83
R0277:Olfr1347 UTSW 7 6488434 missense probably benign 0.00
R0891:Olfr1347 UTSW 7 6488472 missense probably damaging 1.00
R1394:Olfr1347 UTSW 7 6488362 missense probably damaging 1.00
R1395:Olfr1347 UTSW 7 6488362 missense probably damaging 1.00
R1503:Olfr1347 UTSW 7 6488179 missense probably damaging 1.00
R3014:Olfr1347 UTSW 7 6488471 nonsense probably null
R5194:Olfr1347 UTSW 7 6488520 missense probably damaging 1.00
R5477:Olfr1347 UTSW 7 6488571 missense probably benign 0.00
R6137:Olfr1347 UTSW 7 6488845 missense probably benign 0.02
R6212:Olfr1347 UTSW 7 6488368 unclassified probably null
R7444:Olfr1347 UTSW 7 6487920 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGGGCCATGAAAGATTTGAACC -3'
(R):5'- ACAGAGCTGGTAGACTTCATCTC -3'

Sequencing Primer
(F):5'- CCATGAAAGATTTGAACCAGGGTG -3'
(R):5'- GGTAGACTTCATCTCAGCCATTG -3'
Posted On2018-07-24