Incidental Mutation 'R3903:Olfr1276'
ID309256
Institutional Source Beutler Lab
Gene Symbol Olfr1276
Ensembl Gene ENSMUSG00000063844
Gene Nameolfactory receptor 1276
SynonymsMOR245-10, GA_x6K02T2Q125-72308574-72309512
MMRRC Submission 040907-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.142) question?
Stock #R3903 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location111254516-111262026 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 111257769 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 218 (Y218F)
Ref Sequence ENSEMBL: ENSMUSP00000151987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073322] [ENSMUST00000218065]
Predicted Effect probably damaging
Transcript: ENSMUST00000073322
AA Change: Y218F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073046
Gene: ENSMUSG00000063844
AA Change: Y218F

DomainStartEndE-ValueType
Pfam:7tm_4 30 304 9.7e-40 PFAM
Pfam:7tm_1 41 287 4.5e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131512
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213658
Predicted Effect probably damaging
Transcript: ENSMUST00000218065
AA Change: Y218F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (32/32)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amd1 C T 10: 40,290,457 R210H probably benign Het
Amt C T 9: 108,297,221 R62C possibly damaging Het
Ap3m1 T C 14: 21,036,664 Y185C probably null Het
Calcrl T A 2: 84,368,642 probably benign Het
Ccdc178 C T 18: 22,023,095 V573I possibly damaging Het
Cdh6 T C 15: 13,042,575 K499R probably benign Het
Col1a2 G A 6: 4,518,822 probably benign Het
Col6a1 C T 10: 76,711,341 R730H unknown Het
Cyp4f40 C A 17: 32,659,624 R47S possibly damaging Het
Eif4a2 AG A 16: 23,110,640 probably null Het
Gm595 T C X: 48,841,544 N649S possibly damaging Het
Gm8180 T A 14: 43,783,635 R39W probably null Het
Golm1 T C 13: 59,638,340 Q346R probably damaging Het
Grap T G 11: 61,660,325 probably null Het
Hormad2 A G 11: 4,427,237 probably benign Het
Hyal1 T C 9: 107,578,972 probably null Het
Kif12 A G 4: 63,167,976 V378A possibly damaging Het
Lrrk2 A T 15: 91,747,700 S1276C probably damaging Het
Lrrk2 G A 15: 91,747,701 S1276N probably damaging Het
Obscn T C 11: 59,131,646 R758G possibly damaging Het
Olfr1356 T G 10: 78,847,298 I206L probably benign Het
Olfr898 C T 9: 38,349,658 Q186* probably null Het
Pabpc6 T C 17: 9,669,154 E156G probably benign Het
Rorb A G 19: 18,962,099 Y155H probably damaging Het
Samd9l T A 6: 3,376,830 K144* probably null Het
Scn1a A G 2: 66,318,132 I3T probably benign Het
Serpinb9 T C 13: 33,010,810 M183T possibly damaging Het
Wnk1 A G 6: 119,949,051 S1151P probably damaging Het
Xirp2 C T 2: 67,508,036 T207I probably benign Het
Zfp39 T C 11: 58,890,175 Y587C probably benign Het
Other mutations in Olfr1276
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02339:Olfr1276 APN 2 111257243 missense probably benign 0.00
IGL03298:Olfr1276 APN 2 111257534 missense probably benign
R0022:Olfr1276 UTSW 2 111257649 missense probably benign 0.30
R0254:Olfr1276 UTSW 2 111257121 missense probably benign 0.13
R4801:Olfr1276 UTSW 2 111257152 missense probably damaging 1.00
R4802:Olfr1276 UTSW 2 111257152 missense probably damaging 1.00
R5165:Olfr1276 UTSW 2 111257223 missense possibly damaging 0.83
R5341:Olfr1276 UTSW 2 111257637 missense probably damaging 1.00
R5619:Olfr1276 UTSW 2 111257511 missense probably damaging 1.00
R7761:Olfr1276 UTSW 2 111257174 missense possibly damaging 0.93
R8181:Olfr1276 UTSW 2 111257573 missense probably benign
Z1088:Olfr1276 UTSW 2 111257859 missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- AGTGGCCCAACTAGGTTTTG -3'
(R):5'- TCAGCGTGTAAATGGCAGG -3'

Sequencing Primer
(F):5'- GGCCCAACTAGGTTTTGTTGTCC -3'
(R):5'- TCAGGATGGGTGTAATCATGAAGTCC -3'
Posted On2015-04-17