Incidental Mutation 'R3106:Olfr1284'
ID477735
Institutional Source Beutler Lab
Gene Symbol Olfr1284
Ensembl Gene ENSMUSG00000108931
Gene Nameolfactory receptor 1284
SynonymsMOR245-13, GA_x6K02T2Q125-72430580-72431515
MMRRC Submission 040580-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.127) question?
Stock #R3106 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location111375522-111380613 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 111379495 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 165 (N165S)
Ref Sequence ENSEMBL: ENSMUSP00000147014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062407] [ENSMUST00000209096]
Predicted Effect probably benign
Transcript: ENSMUST00000062407
AA Change: N165S

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000052153
Gene: ENSMUSG00000108931
AA Change: N165S

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 7.2e-45 PFAM
Pfam:7TM_GPCR_Srsx 34 302 2.4e-5 PFAM
Pfam:7tm_1 41 287 2e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209096
AA Change: N165S

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (53/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A T 7: 120,396,633 E1331V possibly damaging Het
Adam22 A G 5: 8,117,583 probably null Het
Adamts17 T A 7: 67,125,072 S980T probably damaging Het
Adarb1 C A 10: 77,321,757 K285N probably damaging Het
Atp5c1 A G 2: 10,063,465 S160P probably benign Het
Baz2a AGCGGCGGTACTTGCGGG AG 10: 128,125,077 probably null Het
Btf3 T G 13: 98,310,988 E145D probably benign Het
Ccdc184 G T 15: 98,168,601 A96S probably damaging Het
Ccdc191 T C 16: 43,931,210 F301S probably damaging Het
Ceacam5 T C 7: 17,747,323 Y332H probably benign Het
Clip2 T C 5: 134,523,064 K68R probably benign Het
Cntln C T 4: 84,957,169 T280M possibly damaging Het
Col6a3 T C 1: 90,816,302 R515G probably damaging Het
Ctnnal1 G A 4: 56,813,246 L662F probably benign Het
Dennd3 C A 15: 73,565,124 S118* probably null Het
Dgkg T A 16: 22,575,341 T321S probably damaging Het
Dzip1l A T 9: 99,642,572 K249* probably null Het
Dzip1l A G 9: 99,647,121 E301G probably benign Het
Emc10 G A 7: 44,493,192 R109W probably damaging Het
Ezh1 A C 11: 101,195,642 C575W probably damaging Het
Fam187b A G 7: 30,977,240 D58G probably benign Het
Galnt4 T C 10: 99,109,381 Y323H probably benign Het
Gm13119 T C 4: 144,361,676 V14A probably benign Het
Grm1 A G 10: 11,079,857 S228P probably benign Het
Hist1h1c G T 13: 23,738,900 A18S unknown Het
Hnf4g T G 3: 3,652,856 S388R probably benign Het
Il1rap A G 16: 26,722,752 E581G probably benign Het
Lemd2 C A 17: 27,201,670 L256F probably damaging Het
Mnd1 C A 3: 84,134,109 C62F probably benign Het
Nphs1 C A 7: 30,467,540 S724* probably null Het
Olfr1136 T C 2: 87,693,505 I126V probably damaging Het
Osgep T C 14: 50,916,829 T225A probably benign Het
Pan3 T C 5: 147,539,379 probably benign Het
Pld3 A G 7: 27,535,787 probably null Het
Plekha7 C T 7: 116,164,404 R321K probably benign Het
Plekhg5 C T 4: 152,112,178 T694M probably damaging Het
Ptpn20 A G 14: 33,612,296 I44V probably benign Het
Ptprj T A 2: 90,440,631 H1251L probably damaging Het
Sbspon T C 1: 15,892,582 E24G probably benign Het
Sfmbt1 G A 14: 30,817,796 C847Y probably damaging Het
Sparcl1 T C 5: 104,093,337 T74A probably benign Het
Sppl2b A G 10: 80,867,491 E529G probably benign Het
Stradb C A 1: 58,992,291 H212Q possibly damaging Het
Tkfc G T 19: 10,596,993 C198* probably null Het
Tm4sf4 C T 3: 57,437,622 R150C possibly damaging Het
Tmem212 T C 3: 27,884,870 S156G probably damaging Het
Tmem51 T C 4: 142,037,724 N8D probably damaging Het
Tmigd1 A G 11: 76,910,298 T204A possibly damaging Het
Trp53bp1 A G 2: 121,236,652 L531S probably damaging Het
Tsga10 G A 1: 37,801,791 L445F probably damaging Het
Urb1 C T 16: 90,795,443 V310I probably damaging Het
Vmn2r-ps159 T A 4: 156,333,435 noncoding transcript Het
Wdr19 T C 5: 65,202,623 S24P probably benign Het
Other mutations in Olfr1284
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03024:Olfr1284 APN 2 111379590 missense possibly damaging 0.94
R0526:Olfr1284 UTSW 2 111379492 missense possibly damaging 0.95
R0731:Olfr1284 UTSW 2 111379293 missense probably damaging 0.99
R1762:Olfr1284 UTSW 2 111379573 missense probably damaging 0.99
R1765:Olfr1284 UTSW 2 111379146 missense probably benign 0.39
R3803:Olfr1284 UTSW 2 111379293 missense possibly damaging 0.95
R3894:Olfr1284 UTSW 2 111379637 missense probably benign 0.09
R4005:Olfr1284 UTSW 2 111379743 missense probably benign 0.05
R4227:Olfr1284 UTSW 2 111379065 missense probably benign
R4637:Olfr1284 UTSW 2 111379582 missense probably benign 0.03
R4707:Olfr1284 UTSW 2 111379645 missense probably damaging 1.00
R4762:Olfr1284 UTSW 2 111379737 missense probably damaging 1.00
R5150:Olfr1284 UTSW 2 111379253 missense probably damaging 1.00
R5309:Olfr1284 UTSW 2 111379834 missense possibly damaging 0.52
R5312:Olfr1284 UTSW 2 111379834 missense possibly damaging 0.52
R6554:Olfr1284 UTSW 2 111379159 missense possibly damaging 0.95
R6913:Olfr1284 UTSW 2 111379002 start codon destroyed probably null 0.03
R6980:Olfr1284 UTSW 2 111379275 missense possibly damaging 0.77
R6995:Olfr1284 UTSW 2 111379363 missense probably damaging 1.00
R7168:Olfr1284 UTSW 2 111379879 missense probably damaging 1.00
R7332:Olfr1284 UTSW 2 111379393 missense not run
R7464:Olfr1284 UTSW 2 111379198 missense probably damaging 1.00
Predicted Primers
Posted On2017-05-15