Incidental Mutation 'R8480:Olfr1316'
ID 657458
Institutional Source Beutler Lab
Gene Symbol Olfr1316
Ensembl Gene ENSMUSG00000109801
Gene Name olfactory receptor 1316
Synonyms MOR245-26, GA_x6K02T2Q125-73177039-73176101, MOR245-1
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R8480 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 112126996-112134977 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 112129985 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 275 (D275E)
Ref Sequence ENSEMBL: ENSMUSP00000149103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099596] [ENSMUST00000213696]
AlphaFold Q8VG12
Predicted Effect possibly damaging
Transcript: ENSMUST00000099596
AA Change: D277E

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000097191
Gene: ENSMUSG00000109801
AA Change: D277E

Pfam:7tm_4 32 307 5.9e-41 PFAM
Pfam:7tm_1 43 289 2.2e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213696
AA Change: D275E

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
Meta Mutation Damage Score 0.0878 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (53/54)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik C A 15: 8,187,458 P720Q possibly damaging Het
Acvr1b G A 15: 101,210,839 V499M possibly damaging Het
Adam5 G A 8: 24,804,459 Q375* probably null Het
Adgrf1 G A 17: 43,295,164 E60K probably benign Het
Alb T C 5: 90,462,771 V70A probably damaging Het
Aph1b T A 9: 66,788,427 probably benign Het
Aste1 G A 9: 105,396,990 R143Q possibly damaging Het
Aste1 A T 9: 105,397,796 T351S probably damaging Het
Bace2 T A 16: 97,413,470 L286Q probably damaging Het
Bach1 G A 16: 87,719,275 G235R probably damaging Het
Brwd1 A T 16: 96,047,430 H516Q probably damaging Het
Cc2d2a C A 5: 43,685,144 probably null Het
Cdh22 T A 2: 165,146,726 E236D probably benign Het
Celsr1 G T 15: 86,033,085 S229* probably null Het
Celsr2 T A 3: 108,398,902 T2029S probably benign Het
Col11a1 A G 3: 114,181,394 D1234G probably benign Het
Cpt2 A G 4: 107,907,760 I269T probably damaging Het
Dcaf7 T A 11: 106,054,793 S323T probably benign Het
Ddias G T 7: 92,859,400 Q436K probably benign Het
Dlec1 G A 9: 119,143,267 probably null Het
Dock5 T A 14: 67,836,410 I294F probably benign Het
Fat2 A T 11: 55,282,968 D2306E possibly damaging Het
Gm4787 T A 12: 81,377,506 D626V probably damaging Het
Gm6563 A G 19: 23,675,926 T27A probably benign Het
Hadhb T C 5: 30,168,570 probably null Het
Hsph1 A T 5: 149,627,564 W406R probably null Het
Ighv1-66 C T 12: 115,593,382 G27R possibly damaging Het
Impad1 C T 4: 4,769,376 M246I probably benign Het
Krt26 T C 11: 99,337,600 E102G probably damaging Het
Krt34 T A 11: 100,040,145 probably null Het
Krt36 T C 11: 100,102,809 D401G possibly damaging Het
Loxhd1 G A 18: 77,431,131 G326S probably damaging Het
Lrrc8b A G 5: 105,485,936 N758S probably damaging Het
Mkl2 A T 16: 13,384,192 probably null Het
Muc4 C T 16: 32,752,993 T957I probably benign Het
Naip5 T C 13: 100,222,235 Y831C probably damaging Het
Nfatc1 A T 18: 80,635,644 V829E probably benign Het
Nmnat1 G A 4: 149,473,370 L72F possibly damaging Het
Pcdh7 T A 5: 58,129,065 V1161E probably damaging Het
Raver1 A G 9: 21,090,280 Y86H probably benign Het
Recql4 G T 15: 76,704,505 H1035Q probably benign Het
Sgsm1 A T 5: 113,263,418 M814K probably benign Het
Sh3d19 T G 3: 86,084,877 W71G probably benign Het
Sidt1 T C 16: 44,245,166 Y759C probably damaging Het
Spg11 G T 2: 122,113,079 D197E probably damaging Het
Sppl2b TGTCACAGGT TGT 10: 80,866,069 probably null Het
Ssc5d A T 7: 4,936,329 D588V probably damaging Het
Supt20 C A 3: 54,707,116 T181K probably damaging Het
Szt2 A T 4: 118,386,818 S1363R probably benign Het
Tbcel G A 9: 42,463,873 probably null Het
Ube2e3 T C 2: 78,918,814 L169P probably damaging Het
Wrn A G 8: 33,288,768 F595S probably benign Het
Zfp473 G T 7: 44,732,899 P670Q probably damaging Het
Zw10 C T 9: 49,074,999 A660V probably benign Het
Other mutations in Olfr1316
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02072:Olfr1316 APN 2 112130081 missense probably damaging 1.00
R5120:Olfr1316 UTSW 2 112130558 missense probably damaging 1.00
R5849:Olfr1316 UTSW 2 112129878 missense probably benign 0.01
R6045:Olfr1316 UTSW 2 112130536 missense possibly damaging 0.69
R6156:Olfr1316 UTSW 2 112130100 missense probably damaging 1.00
R7621:Olfr1316 UTSW 2 112130581 missense probably benign 0.00
R7733:Olfr1316 UTSW 2 112130041 missense probably benign 0.01
R8803:Olfr1316 UTSW 2 112130082 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2021-01-18