Incidental Mutation 'IGL02990:Olfr1220'
ID 406900
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1220
Ensembl Gene ENSMUSG00000101480
Gene Name olfactory receptor 1220
Synonyms MOR233-5, GA_x6K02T2Q125-50579531-50578596
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL02990
Quality Score
Status
Chromosome 2
Chromosomal Location 89094188-89106835 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89097129 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 266 (Y266C)
Ref Sequence ENSEMBL: ENSMUSP00000150812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099789] [ENSMUST00000099806] [ENSMUST00000213288]
AlphaFold F7BL62
Predicted Effect possibly damaging
Transcript: ENSMUST00000099789
AA Change: Y266C

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097377
Gene: ENSMUSG00000101480
AA Change: Y266C

DomainStartEndE-ValueType
Pfam:7tm_4 41 315 4.2e-48 PFAM
Pfam:7tm_1 51 298 4.1e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000099806
AA Change: Y266C

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097394
Gene: ENSMUSG00000101480
AA Change: Y266C

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.5e-47 PFAM
Pfam:7tm_1 39 286 3.2e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213288
AA Change: Y266C

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12b G T 11: 69,163,206 V205F probably benign Het
Ampd3 T C 7: 110,807,963 probably benign Het
Arhgef18 G A 8: 3,444,904 V388I probably benign Het
Atp6v1c2 C T 12: 17,294,740 V169I probably damaging Het
Ccdc88b G T 19: 6,847,409 L1328I probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Cluh G A 11: 74,667,765 probably null Het
Cpsf7 C A 19: 10,531,795 N23K probably benign Het
Cyp4x1 A T 4: 115,121,749 F191L probably benign Het
Dcn A G 10: 97,509,973 T216A probably benign Het
Dirc2 C A 16: 35,735,491 V200F possibly damaging Het
Drosha C T 15: 12,827,267 probably benign Het
Foxn4 A G 5: 114,272,989 S24P probably damaging Het
Gm11733 A T 11: 117,486,983 probably null Het
Hapln1 A C 13: 89,601,606 Y90S probably benign Het
Igf2r C A 17: 12,710,746 probably benign Het
Jade2 A G 11: 51,831,247 probably benign Het
Kcnh7 A T 2: 62,705,986 L1084H probably benign Het
Kif1a T C 1: 93,039,263 D1155G probably damaging Het
Llgl2 A G 11: 115,854,333 M958V probably benign Het
Lrp2 A G 2: 69,441,396 V4064A possibly damaging Het
Mau2 A G 8: 70,022,255 probably benign Het
Mllt10 T C 2: 18,123,711 probably benign Het
Myo15 A G 11: 60,479,440 T1009A probably benign Het
Myo6 T C 9: 80,276,403 probably null Het
Neil2 G T 14: 63,191,809 H12N possibly damaging Het
Nrde2 T C 12: 100,142,096 E412G probably damaging Het
Olfr114 C T 17: 37,589,668 M228I probably benign Het
Patl2 T G 2: 122,124,497 probably null Het
Pkhd1 T C 1: 20,522,963 H1642R possibly damaging Het
Ppp6r1 A G 7: 4,643,023 I199T possibly damaging Het
Prom2 T A 2: 127,528,814 T817S probably benign Het
Slc9b1 A G 3: 135,394,983 probably null Het
Sv2c A T 13: 96,088,378 I141K probably damaging Het
Tas2r139 A T 6: 42,141,104 I57F probably damaging Het
Tep1 A G 14: 50,868,246 S106P possibly damaging Het
Tnni3k T C 3: 154,957,758 D319G probably benign Het
Tom1l2 C T 11: 60,230,236 D461N probably damaging Het
Ugt1a10 T C 1: 88,055,879 L133S probably damaging Het
Usf2 T G 7: 30,955,307 Q161P probably benign Het
Vmn1r15 A G 6: 57,258,608 T154A probably benign Het
Vmn2r95 C A 17: 18,452,036 Y678* probably null Het
Other mutations in Olfr1220
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01761:Olfr1220 APN 2 89097544 missense probably damaging 1.00
IGL02861:Olfr1220 APN 2 89097457 missense probably benign 0.38
PIT4403001:Olfr1220 UTSW 2 89097076 missense probably benign 0.00
R0589:Olfr1220 UTSW 2 89097262 missense probably benign 0.01
R1518:Olfr1220 UTSW 2 89097600 missense probably benign 0.00
R1573:Olfr1220 UTSW 2 89097720 missense probably damaging 1.00
R1800:Olfr1220 UTSW 2 89097706 missense probably benign 0.00
R1908:Olfr1220 UTSW 2 89097544 missense probably damaging 1.00
R3409:Olfr1220 UTSW 2 89097324 missense possibly damaging 0.74
R4678:Olfr1220 UTSW 2 89097516 missense probably benign 0.00
R5856:Olfr1220 UTSW 2 89097910 missense probably benign
R5888:Olfr1220 UTSW 2 89097925 start codon destroyed probably damaging 1.00
R6961:Olfr1220 UTSW 2 89097805 missense probably benign
R7197:Olfr1220 UTSW 2 89097282 missense probably benign 0.03
R7455:Olfr1220 UTSW 2 89097090 missense probably damaging 1.00
R7894:Olfr1220 UTSW 2 89097588 missense possibly damaging 0.90
R8008:Olfr1220 UTSW 2 89097715 missense probably benign 0.35
R8139:Olfr1220 UTSW 2 89097843 missense probably benign 0.02
R8971:Olfr1220 UTSW 2 89097547 nonsense probably null
R9068:Olfr1220 UTSW 2 89097025 missense probably benign 0.00
R9290:Olfr1220 UTSW 2 89097732 missense probably damaging 1.00
R9310:Olfr1220 UTSW 2 89097913 missense probably damaging 1.00
X0019:Olfr1220 UTSW 2 89097896 missense probably damaging 1.00
Posted On 2016-08-02