Incidental Mutation 'IGL02861:Olfr1220'
ID362160
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1220
Ensembl Gene ENSMUSG00000101480
Gene Nameolfactory receptor 1220
SynonymsMOR233-5, GA_x6K02T2Q125-50579531-50578596
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL02861
Quality Score
Status
Chromosome2
Chromosomal Location89094188-89106835 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 89097457 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 157 (I157L)
Ref Sequence ENSEMBL: ENSMUSP00000150812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099789] [ENSMUST00000099806] [ENSMUST00000213288]
Predicted Effect probably benign
Transcript: ENSMUST00000099789
AA Change: I157L

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097377
Gene: ENSMUSG00000101480
AA Change: I157L

DomainStartEndE-ValueType
Pfam:7tm_4 41 315 4.2e-48 PFAM
Pfam:7tm_1 51 298 4.1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099806
AA Change: I157L

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097394
Gene: ENSMUSG00000101480
AA Change: I157L

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: ENSMUST00000213288
AA Change: I157L

PolyPhen 2 Score 0.378 (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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A T 13: 60,853,332 probably benign Het
6430548M08Rik G A 8: 120,150,124 R157H probably damaging Het
Amer3 A G 1: 34,588,125 K482E probably damaging Het
Ankrd11 A T 8: 122,895,827 S429T probably damaging Het
Ano3 T A 2: 110,738,812 N125I probably damaging Het
BC106179 T A 16: 23,223,996 probably benign Het
Bclaf3 T C X: 159,555,528 I457T possibly damaging Het
Cbr3 T G 16: 93,685,119 V121G probably damaging Het
Cd44 A G 2: 102,832,481 probably null Het
Cd72 G A 4: 43,448,332 A316V probably benign Het
Cdc27 A T 11: 104,522,831 probably benign Het
Cdon A T 9: 35,486,957 Q990L probably damaging Het
Clk2 T C 3: 89,173,399 W231R probably damaging Het
Cpsf2 G A 12: 101,999,566 V597I probably benign Het
D630003M21Rik A G 2: 158,200,998 V874A probably benign Het
Daam2 A G 17: 49,469,427 F811L probably damaging Het
Ddx54 T C 5: 120,618,130 probably benign Het
Dysf T A 6: 84,039,537 L59Q probably damaging Het
Eps8 A G 6: 137,499,599 Y601H probably damaging Het
Faf2 T C 13: 54,648,422 Y131H probably damaging Het
Hectd4 T A 5: 121,307,004 D101E possibly damaging Het
Hk2 T C 6: 82,760,158 T30A possibly damaging Het
Il27 A T 7: 126,592,649 L77Q probably damaging Het
Klhdc1 T A 12: 69,251,451 V83D possibly damaging Het
Manba T G 3: 135,570,263 S822A probably benign Het
Mterf2 A C 10: 85,120,331 V143G probably damaging Het
Ncapd3 A G 9: 27,069,899 D895G probably benign Het
Olfr429 T A 1: 174,089,036 probably benign Het
Panx1 T C 9: 15,007,805 K253E probably benign Het
Phc1 T A 6: 122,323,789 probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Ptchd4 A G 17: 42,377,317 E250G probably damaging Het
Rp1 G T 1: 4,346,152 S1579* probably null Het
Rrp1 A G 10: 78,409,222 probably benign Het
Ryr3 A G 2: 112,652,841 L4187P possibly damaging Het
Serpinc1 A T 1: 160,999,991 I387F probably damaging Het
Slc2a7 G A 4: 150,168,379 C492Y probably benign Het
Slf1 A G 13: 77,126,359 probably benign Het
Spta1 T A 1: 174,211,598 L1169Q probably damaging Het
Stap1 T A 5: 86,071,965 probably benign Het
Taf6 A G 5: 138,183,885 L66P probably damaging Het
Ttn T C 2: 76,802,497 E14071G probably damaging Het
Unk A G 11: 116,056,299 H586R possibly damaging Het
Zfpm2 A C 15: 41,103,266 K917T probably damaging Het
Other mutations in Olfr1220
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01761:Olfr1220 APN 2 89097544 missense probably damaging 1.00
IGL02990:Olfr1220 APN 2 89097129 missense possibly damaging 0.94
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
R7977: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
X0019:Olfr1220 UTSW 2 89097896 missense probably damaging 1.00
Posted On2015-12-18