Incidental Mutation 'IGL01074:Olfr1221'
ID50426
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 #IGL01074
Quality Score
Status
Chromosome2
Chromosomal Location89109086-89117283 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89111679 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 278 (T278A)
Ref Sequence ENSEMBL: ENSMUSP00000149330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099795] [ENSMUST00000099806] [ENSMUST00000143255] [ENSMUST00000213288] [ENSMUST00000213404] [ENSMUST00000217635]
Predicted Effect probably benign
Transcript: ENSMUST00000099795
AA Change: T278A

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000097383
Gene: ENSMUSG00000075102
AA Change: T278A

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: ENSMUST00000099806
SMART Domains Protein: ENSMUSP00000097394
Gene: ENSMUSG00000101480

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.5e-47 PFAM
Pfam:7tm_1 39 286 3.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143255
AA Change: T278A

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000213288
Predicted Effect probably benign
Transcript: ENSMUST00000213404
AA Change: T278A

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000217635
AA Change: T278A

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A G 10: 80,013,892 D1934G possibly damaging Het
Adcy2 A T 13: 68,796,654 I203N possibly damaging Het
Asxl3 T C 18: 22,522,845 V1304A probably damaging Het
Cmah A G 13: 24,464,255 D491G possibly damaging Het
Cobll1 A G 2: 65,107,848 S364P probably damaging Het
Cspg4 T C 9: 56,898,865 L2320P probably damaging Het
Defa5 T A 8: 21,297,576 F46L possibly damaging Het
Erich6b T A 14: 75,658,768 N31K probably benign Het
Fcrl6 C T 1: 172,599,113 V89M possibly damaging Het
Gm5458 G T 14: 19,599,692 L155I probably damaging Het
Hlx T C 1: 184,727,813 D376G probably damaging Het
Hmcn1 A G 1: 150,627,033 S3948P possibly damaging Het
Igf2bp2 G A 16: 22,063,704 R416W probably damaging Het
Lama4 T C 10: 39,098,488 probably null Het
Lingo4 T C 3: 94,403,288 V511A probably benign Het
Mllt3 C A 4: 87,791,881 V29L probably benign Het
Mmp16 T C 4: 18,110,584 probably benign Het
Moxd1 A G 10: 24,279,384 R228G probably benign Het
Myrfl T C 10: 116,779,585 N802S possibly damaging Het
Nmu C A 5: 76,343,927 V121F probably damaging Het
Npepps T C 11: 97,217,811 T760A probably damaging Het
Ogfod1 G T 8: 94,063,006 W445L probably damaging Het
Oplah G A 15: 76,305,748 P222S probably damaging Het
Slc4a4 T A 5: 89,179,774 L699H probably damaging Het
Sod3 C T 5: 52,368,198 Q80* probably null Het
Syne2 C T 12: 76,031,587 Q4732* probably null Het
Syne2 T C 12: 75,987,011 I3678T probably benign Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Tmem220 T C 11: 67,032,173 probably benign Het
Uhrf1bp1 A G 17: 27,879,291 I136V possibly damaging Het
Ush1c A G 7: 46,225,250 probably benign Het
Wbp2nl T C 15: 82,314,290 S343P possibly damaging Het
Other mutations in Olfr1221
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01965:Olfr1221 APN 2 89112191 missense probably benign 0.37
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 On2013-06-21