Incidental Mutation 'IGL01965:Olfr1221'
ID182484
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1221
Ensembl Gene ENSMUSG00000075102
Gene Nameolfactory receptor 1221
SynonymsGA_x6K02T2Q125-50591144-50590209, MOR233-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.100) question?
Stock #IGL01965
Quality Score
Status
Chromosome2
Chromosomal Location89109086-89117283 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 89112191 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 107 (T107I)
Ref Sequence ENSEMBL: ENSMUSP00000149330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099795] [ENSMUST00000143255] [ENSMUST00000213404] [ENSMUST00000217635]
Predicted Effect probably benign
Transcript: ENSMUST00000099795
AA Change: T107I

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097383
Gene: ENSMUSG00000075102
AA Change: T107I

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 5.6e-48 PFAM
Pfam:7tm_1 39 302 3.6e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143255
AA Change: T107I

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000213404
AA Change: T107I

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000217635
AA Change: T107I

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411G06Rik T A 10: 51,756,982 noncoding transcript Het
Adm C T 7: 110,628,625 L67F probably benign Het
Bcl10 C T 3: 145,933,184 R194* probably null Het
Brat1 T C 5: 140,718,056 V688A probably benign Het
Cep57 T A 9: 13,821,520 probably benign Het
Dhx57 G A 17: 80,268,850 R604W probably damaging Het
Fndc3a A G 14: 72,540,402 I1121T probably benign Het
Fry A G 5: 150,381,621 E597G probably damaging Het
Gabra2 A G 5: 71,008,075 probably benign Het
Golgb1 A G 16: 36,917,920 D2207G probably damaging Het
Htr4 T A 18: 62,437,669 M265K probably damaging Het
Igf2r C T 17: 12,704,338 V1195M probably benign Het
Itga2 C A 13: 114,848,064 probably benign Het
Itih3 T C 14: 30,915,720 H494R probably damaging Het
Itpkb C A 1: 180,332,405 T32K probably damaging Het
Kif16b A T 2: 142,848,405 D252E probably damaging Het
Klhl33 A G 14: 50,891,730 Y681H probably damaging Het
Lats1 T A 10: 7,701,706 V198E probably benign Het
Me3 A G 7: 89,851,743 D554G probably benign Het
Mindy4 C T 6: 55,260,532 probably benign Het
Nipa2 G A 7: 55,944,623 probably benign Het
Olfr1162 A G 2: 88,050,436 F63L probably benign Het
Olfr569 T C 7: 102,887,607 E182G probably damaging Het
Olfr916 A T 9: 38,657,622 F257I probably benign Het
Ptgis A T 2: 167,208,253 W319R probably benign Het
Pygl C T 12: 70,191,114 A717T probably benign Het
Rbbp8 A T 18: 11,722,260 K514I probably benign Het
Scn9a A T 2: 66,484,433 L1636H probably damaging Het
Serpina3j A G 12: 104,314,804 T79A probably benign Het
Sfxn4 A G 19: 60,858,744 probably benign Het
Shc2 T A 10: 79,627,189 probably benign Het
Sim2 A T 16: 94,121,178 Y294F probably benign Het
Tep1 A G 14: 50,863,495 probably benign Het
Ubr1 A G 2: 120,875,398 L1528P probably damaging Het
Usp53 A G 3: 122,961,153 probably null Het
Vmn2r87 G T 10: 130,479,055 L221I possibly damaging Het
Other mutations in Olfr1221
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01074:Olfr1221 APN 2 89111679 missense probably benign 0.19
IGL02645:Olfr1221 APN 2 89111619 missense probably benign 0.00
PIT4354001:Olfr1221 UTSW 2 89112486 nonsense probably null
R0124:Olfr1221 UTSW 2 89111744 missense possibly damaging 0.56
R0940:Olfr1221 UTSW 2 89112075 missense probably benign
R3689:Olfr1221 UTSW 2 89112042 missense possibly damaging 0.85
R4489:Olfr1221 UTSW 2 89111572 unclassified probably null
R4706:Olfr1221 UTSW 2 89112232 missense probably damaging 0.98
R4707:Olfr1221 UTSW 2 89112232 missense probably damaging 0.98
R5133:Olfr1221 UTSW 2 89111796 unclassified probably null
R6629:Olfr1221 UTSW 2 89112162 missense probably benign 0.09
R6644:Olfr1221 UTSW 2 89111981 missense probably benign 0.00
R6723:Olfr1221 UTSW 2 89112296 missense possibly damaging 0.81
R6725:Olfr1221 UTSW 2 89112296 missense possibly damaging 0.81
R6754:Olfr1221 UTSW 2 89112296 missense possibly damaging 0.81
R6765:Olfr1221 UTSW 2 89112296 missense possibly damaging 0.81
R6766:Olfr1221 UTSW 2 89112296 missense possibly damaging 0.81
R7215:Olfr1221 UTSW 2 89112501 nonsense probably null
R7562:Olfr1221 UTSW 2 89112285 missense probably benign 0.00
R7681:Olfr1221 UTSW 2 89111591 missense probably benign 0.00
Posted On2014-05-07