Incidental Mutation 'IGL02512:Olfr1124'
ID296575
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1124
Ensembl Gene ENSMUSG00000050772
Gene Nameolfactory receptor 1124
SynonymsMOR264-3, Olfr1125, GA_x6K02T2Q125-48935224-48935664, GA_x6K02T2Q125-48936945-48937901, MOR264-24
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL02512
Quality Score
Status
Chromosome2
Chromosomal Location87430275-87436623 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 87435058 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 190 (I190M)
Ref Sequence ENSEMBL: ENSMUSP00000150244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062494] [ENSMUST00000215909]
Predicted Effect possibly damaging
Transcript: ENSMUST00000062494
AA Change: I190M

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000062513
Gene: ENSMUSG00000050772
AA Change: I190M

DomainStartEndE-ValueType
Pfam:7tm_4 37 314 4.2e-52 PFAM
Pfam:7tm_1 47 296 2.4e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215909
AA Change: I190M

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg10b C A 15: 90,227,549 H199N probably benign Het
Ankrd13a T A 5: 114,786,766 M104K probably benign Het
Ankrd37 A G 8: 45,999,288 L48P probably damaging Het
Ankzf1 T A 1: 75,192,578 L43M probably damaging Het
Ano10 A C 9: 122,272,474 V77G possibly damaging Het
Arg2 G A 12: 79,147,743 V114I probably benign Het
Asah1 A C 8: 41,360,307 probably benign Het
Clpx A C 9: 65,310,251 I34L probably benign Het
Cnga2 G A X: 72,008,925 V469I probably damaging Het
D230025D16Rik G A 8: 105,234,478 probably benign Het
Dock9 A T 14: 121,619,538 probably benign Het
Eaf1 A G 14: 31,497,786 T61A possibly damaging Het
Exoc3l T A 8: 105,290,483 D624V probably damaging Het
Fancd2 A G 6: 113,570,943 D927G probably damaging Het
Fbn1 A T 2: 125,338,460 Y1801N probably damaging Het
Garnl3 A G 2: 33,031,138 Y292H probably damaging Het
Gpr174 A T X: 107,292,971 K130* probably null Het
Greb1 C T 12: 16,692,712 V1379I possibly damaging Het
Grik2 A T 10: 49,355,912 D507E probably benign Het
Gsn A T 2: 35,283,950 K24* probably null Het
Ift80 A G 3: 68,927,725 probably null Het
Inpp5j T A 11: 3,499,661 Y707F probably damaging Het
Ints13 A T 6: 146,576,357 D31E probably damaging Het
Kcnh1 T C 1: 192,505,381 F717L possibly damaging Het
Klhdc8a T C 1: 132,303,157 probably null Het
Klkb1 G A 8: 45,276,240 probably benign Het
Krt16 A T 11: 100,246,336 probably benign Het
Msh6 T C 17: 87,984,732 V305A probably benign Het
Myo6 T A 9: 80,292,519 probably null Het
Nampt T A 12: 32,830,269 Y54N possibly damaging Het
Neurog2 G T 3: 127,633,855 E43* probably null Het
Obscn C T 11: 59,028,517 R6887H probably damaging Het
Olfr209 T C 16: 59,361,808 N137D possibly damaging Het
Olfr772 A G 10: 129,174,250 I257T possibly damaging Het
Pdss1 A G 2: 22,912,646 I166V probably damaging Het
Ptpn21 T C 12: 98,679,392 T1096A probably benign Het
Reln A G 5: 22,040,427 Y728H probably benign Het
Sec31a T C 5: 100,407,193 D56G probably damaging Het
Shroom1 T A 11: 53,466,559 V683E probably damaging Het
Slc5a11 A G 7: 123,265,255 D358G probably damaging Het
Slfn3 T A 11: 83,213,025 S241T possibly damaging Het
Slitrk3 G A 3: 73,050,402 P346S probably benign Het
Specc1 T A 11: 62,118,389 S324T probably damaging Het
Sptlc3 T C 2: 139,547,203 Y168H probably damaging Het
St3gal6 C T 16: 58,473,459 E236K probably benign Het
Tet2 A T 3: 133,469,308 M1426K probably benign Het
Tinag A T 9: 77,031,787 probably benign Het
Tjp1 A G 7: 65,343,667 S53P probably damaging Het
Uimc1 T C 13: 55,040,618 T543A possibly damaging Het
Wdfy4 A G 14: 33,042,491 W2147R probably benign Het
Zmym1 C T 4: 127,048,672 C641Y probably damaging Het
Other mutations in Olfr1124
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Olfr1124 APN 2 87435063 missense probably benign 0.00
IGL01655:Olfr1124 APN 2 87434885 missense probably damaging 1.00
IGL01878:Olfr1124 APN 2 87434970 missense possibly damaging 0.55
IGL02265:Olfr1124 APN 2 87435344 missense probably benign 0.00
IGL02379:Olfr1124 APN 2 87435324 missense probably benign 0.07
IGL02578:Olfr1124 APN 2 87435057 missense probably damaging 0.96
R0617:Olfr1124 UTSW 2 87434661 missense probably damaging 1.00
R1376:Olfr1124 UTSW 2 87434559 missense possibly damaging 0.62
R1376:Olfr1124 UTSW 2 87434559 missense possibly damaging 0.62
R4993:Olfr1124 UTSW 2 87435152 missense probably benign 0.00
R5045:Olfr1124 UTSW 2 87435146 missense probably damaging 1.00
R6119:Olfr1124 UTSW 2 87435389 nonsense probably null
R6146:Olfr1124 UTSW 2 87435318 missense possibly damaging 0.78
R6699:Olfr1124 UTSW 2 87434816 missense probably benign
R6883:Olfr1124 UTSW 2 87435279 missense probably damaging 0.99
R6966:Olfr1124 UTSW 2 87435279 missense probably damaging 0.98
R7383:Olfr1124 UTSW 2 87435377 missense possibly damaging 0.91
Z1088:Olfr1124 UTSW 2 87435159 missense probably damaging 1.00
Posted On2015-04-16