Incidental Mutation 'IGL01906:Olfr1280'
ID179656
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1280
Ensembl Gene ENSMUSG00000109449
Gene Nameolfactory receptor 1280
SynonymsMOR248-1, GA_x6K02T2Q125-72366920-72367837
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock #IGL01906
Quality Score
Status
Chromosome2
Chromosomal Location111314017-111326003 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 111315901 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 141 (C141R)
Ref Sequence ENSEMBL: ENSMUSP00000087800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082167] [ENSMUST00000090328] [ENSMUST00000204064] [ENSMUST00000213551] [ENSMUST00000219291]
Predicted Effect probably damaging
Transcript: ENSMUST00000082167
AA Change: C141R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000080805
Gene: ENSMUSG00000109449
AA Change: C141R

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 3.8e-50 PFAM
Pfam:7tm_1 41 287 9.9e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000090328
AA Change: C141R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000087800
Gene: ENSMUSG00000109322
AA Change: C141R

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 3.6e-49 PFAM
Pfam:7tm_1 41 287 3.9e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204064
AA Change: C141R
SMART Domains Protein: ENSMUSP00000145495
Gene: ENSMUSG00000109322
AA Change: C141R

DomainStartEndE-ValueType
Pfam:7tm_4 30 298 2.1e-39 PFAM
Pfam:7tm_1 40 286 7.8e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213551
AA Change: C141R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000219291
AA Change: C141R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
Validation Efficiency
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
Abca13 A T 11: 9,216,225 Q24L probably damaging Het
Adam1b A T 5: 121,501,475 N502K probably benign Het
Adam6a T A 12: 113,544,331 M108K probably benign Het
Akr1b10 A G 6: 34,387,811 K69R probably benign Het
Ap5b1 T A 19: 5,570,979 L809* probably null Het
Asxl3 A T 18: 22,522,281 H1116L probably benign Het
Birc6 A G 17: 74,638,358 T2794A probably damaging Het
Bst1 T C 5: 43,837,519 F248L probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cep120 A T 18: 53,714,912 V625E probably benign Het
Cgnl1 T C 9: 71,724,567 M501V probably benign Het
Col19a1 T A 1: 24,317,429 D661V probably damaging Het
Copb2 A T 9: 98,580,330 E456V probably benign Het
Csk A G 9: 57,629,021 I201T probably damaging Het
Cttnbp2 G T 6: 18,378,376 S977* probably null Het
Ddr2 A G 1: 169,982,099 W770R probably damaging Het
Dnah7b T C 1: 46,175,453 I1126T probably damaging Het
Dusp27 A C 1: 166,099,523 L840R probably damaging Het
Ephb4 A T 5: 137,361,194 E342V probably damaging Het
Erc2 T A 14: 28,141,306 L496Q probably damaging Het
Faim2 G A 15: 99,514,433 T140I probably damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Haus3 A C 5: 34,168,323 probably benign Het
Hmcn1 T C 1: 150,667,887 T2846A probably benign Het
Mto1 T C 9: 78,464,931 V561A probably benign Het
Myb T C 10: 21,152,634 Y110C probably damaging Het
Plcd3 T C 11: 103,076,856 Y420C probably damaging Het
Plk4 G T 3: 40,810,381 M603I probably null Het
Scgb1b24 T C 7: 33,744,113 C66R probably damaging Het
Sec23a T C 12: 59,007,044 Y56C probably damaging Het
Setd1b C A 5: 123,157,667 D1099E unknown Het
Sh2d7 G A 9: 54,539,466 probably benign Het
Slc30a10 A T 1: 185,456,396 K221* probably null Het
Slc5a1 T C 5: 33,154,653 L463P probably damaging Het
Strc T C 2: 121,377,634 T419A probably benign Het
Ttc39a T C 4: 109,421,394 M82T probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps13b T C 15: 35,639,847 probably benign Het
Other mutations in Olfr1280
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01364:Olfr1280 APN 2 111315670 missense probably damaging 1.00
R0078:Olfr1280 UTSW 2 111315904 missense probably benign 0.04
R0091:Olfr1280 UTSW 2 111316173 missense probably benign 0.00
R0295:Olfr1280 UTSW 2 111316154 missense probably damaging 0.99
R1650:Olfr1280 UTSW 2 111316295 missense probably benign 0.04
R1808:Olfr1280 UTSW 2 111315998 missense probably benign 0.00
R2120:Olfr1280 UTSW 2 111315499 missense probably benign 0.02
R3084:Olfr1280 UTSW 2 111316116 missense probably benign 0.36
R3085:Olfr1280 UTSW 2 111316116 missense probably benign 0.36
R3086:Olfr1280 UTSW 2 111316116 missense probably benign 0.36
R3148:Olfr1280 UTSW 2 111316288 missense possibly damaging 0.93
R4229:Olfr1280 UTSW 2 111316336 missense probably damaging 1.00
R4258:Olfr1280 UTSW 2 111315638 missense probably benign
R4908:Olfr1280 UTSW 2 111316229 missense probably benign 0.09
R4972:Olfr1280 UTSW 2 111315818 missense probably damaging 1.00
R5051:Olfr1280 UTSW 2 111316254 nonsense probably null
R5551:Olfr1280 UTSW 2 111315571 missense possibly damaging 0.52
Posted On2014-05-07