Incidental Mutation 'R5132:Olfr1299'
ID 395857
Institutional Source Beutler Lab
Gene Symbol Olfr1299
Ensembl Gene ENSMUSG00000109219
Gene Name olfactory receptor 1299
Synonyms GA_x6K02T2Q125-72715642-72716580, MOR248-8
MMRRC Submission 042720-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R5132 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 111661419-111665814 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111664999 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 258 (Y258N)
Ref Sequence ENSEMBL: ENSMUSP00000149299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000207228] [ENSMUST00000208175] [ENSMUST00000213511]
AlphaFold Q7TQX5
Predicted Effect probably damaging
Transcript: ENSMUST00000099610
AA Change: Y258N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097205
Gene: ENSMUSG00000074957
AA Change: Y258N

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 1.4e-47 PFAM
Pfam:7tm_1 41 287 2.6e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207228
AA Change: Y258N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000208175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208983
Predicted Effect probably damaging
Transcript: ENSMUST00000213511
AA Change: Y258N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.2605 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (41/41)
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
1110017D15Rik A G 4: 41,517,178 probably benign Het
Abl2 A T 1: 156,641,832 K785* probably null Het
Acad11 A T 9: 104,126,592 I628L probably benign Het
Ago1 T C 4: 126,461,723 I98V probably benign Het
Bach2 A G 4: 32,563,396 probably benign Het
Calr3 C T 8: 72,431,368 probably null Het
Cdc23 C A 18: 34,651,689 V7L unknown Het
Cdc42ep3 C T 17: 79,335,374 R39H probably damaging Het
Cyp2j5 T C 4: 96,629,496 Y493C probably damaging Het
Ddx19b A T 8: 111,022,408 D66E probably benign Het
Drosha A G 15: 12,837,291 D287G unknown Het
Gm8888 A G 15: 96,767,011 noncoding transcript Het
Gpr25 G T 1: 136,260,365 A170E probably damaging Het
Gria1 A G 11: 57,289,399 Y656C probably damaging Het
Grik5 C T 7: 25,065,204 V145I probably benign Het
Htt T C 5: 34,905,679 V2885A possibly damaging Het
Larp6 A G 9: 60,737,210 E211G probably damaging Het
Magi1 C A 6: 93,683,091 probably null Het
Mtbp A G 15: 55,558,569 S63G possibly damaging Het
Ndor1 A T 2: 25,247,769 S513T probably benign Het
Nsd3 A G 8: 25,678,839 D670G possibly damaging Het
Olfr1118 A T 2: 87,308,938 M50L probably damaging Het
Olfr513 T C 7: 108,755,270 V138A probably damaging Het
Pcdh7 T C 5: 57,728,121 V1061A probably benign Het
Pdia4 A G 6: 47,796,735 I560T probably benign Het
Pomt2 A G 12: 87,110,347 F733L probably damaging Het
Pprc1 T C 19: 46,072,682 probably benign Het
Prkca T C 11: 108,192,117 probably benign Het
Pspc1 A T 14: 56,723,250 S473T probably benign Het
Rgs12 A G 5: 34,989,812 probably benign Het
Scn3a C T 2: 65,468,204 V1384I probably benign Het
Serpinb6a C T 13: 33,918,322 D307N probably benign Het
Smap2 T C 4: 120,973,173 E255G possibly damaging Het
St7 A T 6: 17,854,957 I298F probably damaging Het
Tgm7 A G 2: 121,104,219 F93L probably damaging Het
Timm23 A T 14: 32,193,945 D56E probably damaging Het
Tmem170 A T 8: 111,869,725 M56K probably benign Het
Other mutations in Olfr1299
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Olfr1299 APN 2 111665144 missense probably benign 0.00
IGL02090:Olfr1299 APN 2 111664988 missense probably damaging 0.99
IGL02213:Olfr1299 APN 2 111664675 missense probably benign 0.05
R0603:Olfr1299 UTSW 2 111664880 missense probably damaging 1.00
R1598:Olfr1299 UTSW 2 111664754 missense probably damaging 1.00
R1802:Olfr1299 UTSW 2 111664754 missense probably damaging 1.00
R1803:Olfr1299 UTSW 2 111664754 missense probably damaging 1.00
R1885:Olfr1299 UTSW 2 111664754 missense probably damaging 1.00
R1887:Olfr1299 UTSW 2 111664754 missense probably damaging 1.00
R1962:Olfr1299 UTSW 2 111664889 missense probably damaging 1.00
R2024:Olfr1299 UTSW 2 111664823 missense possibly damaging 0.53
R2438:Olfr1299 UTSW 2 111664751 missense probably damaging 1.00
R5938:Olfr1299 UTSW 2 111664363 missense probably benign
R6115:Olfr1299 UTSW 2 111664642 nonsense probably null
R6336:Olfr1299 UTSW 2 111664619 missense possibly damaging 0.81
R6418:Olfr1299 UTSW 2 111664472 missense probably benign 0.00
R7196:Olfr1299 UTSW 2 111664697 missense probably damaging 0.97
R7539:Olfr1299 UTSW 2 111664433 missense possibly damaging 0.83
R8262:Olfr1299 UTSW 2 111664242 missense possibly damaging 0.89
R8331:Olfr1299 UTSW 2 111664382 missense possibly damaging 0.95
R9765:Olfr1299 UTSW 2 111664885 missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- AGCAGTTCTGCAGCTACCTC -3'
(R):5'- CCTGGGCATTAAGTATTTACCTTGTG -3'

Sequencing Primer
(F):5'- CTCTGTGGCCCATTGGAAATAGAC -3'
(R):5'- CTGGATTTAGGAGAGGTGTAA -3'
Posted On 2016-06-21