Incidental Mutation 'IGL02731:Olfr1242'
ID305464
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1242
Ensembl Gene ENSMUSG00000075085
Gene Nameolfactory receptor 1242
SynonymsGA_x6K02T2Q125-50937307-50936387, MOR231-5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL02731
Quality Score
Status
Chromosome2
Chromosomal Location89492380-89498335 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89493457 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 285 (Y285C)
Ref Sequence ENSEMBL: ENSMUSP00000149368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099777] [ENSMUST00000111540] [ENSMUST00000143935] [ENSMUST00000216001]
Predicted Effect probably damaging
Transcript: ENSMUST00000099777
AA Change: Y285C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097365
Gene: ENSMUSG00000075085
AA Change: Y285C

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.8e-43 PFAM
Pfam:7TM_GPCR_Srsx 33 300 3.4e-5 PFAM
Pfam:7tm_1 39 285 1.6e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111540
AA Change: Y285C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107165
Gene: ENSMUSG00000075085
AA Change: Y285C

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 33 300 3.4e-5 PFAM
Pfam:7tm_1 39 285 1.5e-26 PFAM
Pfam:7tm_4 137 278 5.3e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000143935
AA Change: Y285C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216001
AA Change: Y285C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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
Akap10 A T 11: 61,893,476 D515E possibly damaging Het
Ankrd13b A T 11: 77,476,219 S9R probably damaging Het
Ano9 G A 7: 141,107,204 A374V probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cep78 T A 19: 15,956,306 H636L probably benign Het
Chd2 A G 7: 73,493,456 V563A probably damaging Het
Cndp1 G T 18: 84,631,958 D203E probably damaging Het
Col16a1 G A 4: 130,053,530 probably benign Het
Copa T C 1: 172,102,218 V284A possibly damaging Het
Dlec1 A G 9: 119,147,120 T1656A probably benign Het
Dopey1 T C 9: 86,487,381 I89T probably damaging Het
Eif2ak4 T C 2: 118,388,814 S36P probably benign Het
Ep300 A T 15: 81,648,414 I1618F unknown Het
Fan1 G A 7: 64,372,993 L171F possibly damaging Het
Fancm A G 12: 65,088,305 T291A probably benign Het
Gm14325 T C 2: 177,832,986 K101R probably damaging Het
Hmx3 A T 7: 131,543,963 probably null Het
Htt G T 5: 34,803,793 V255L probably benign Het
L3mbtl3 C T 10: 26,344,176 probably null Het
Lmbr1l A G 15: 98,917,896 L9P probably damaging Het
Lyzl6 A T 11: 103,635,077 Y72* probably null Het
Mib1 A G 18: 10,800,115 E818G possibly damaging Het
Neb T C 2: 52,160,703 T6405A probably damaging Het
Npas3 A G 12: 54,067,795 D482G probably benign Het
Nuak2 C A 1: 132,316,357 A43E probably damaging Het
Olfr1123 G A 2: 87,418,707 V220I probably benign Het
Olfr1289 A T 2: 111,483,528 I33L probably benign Het
Olfr1434 T C 19: 12,283,842 S265P probably damaging Het
Pde11a C A 2: 75,991,239 A899S probably benign Het
Ppfibp2 A T 7: 107,746,422 I884F possibly damaging Het
Pus7l A G 15: 94,523,464 V655A probably benign Het
Rad51ap2 A G 12: 11,456,896 D273G probably damaging Het
Rc3h2 T C 2: 37,382,811 D751G probably benign Het
Sdk1 C T 5: 142,172,544 A1863V probably damaging Het
Spns3 T C 11: 72,529,577 Y361C probably damaging Het
Srp72 T A 5: 76,994,215 I372N probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tcf20 A G 15: 82,853,237 S1338P probably benign Het
Tcte1 G A 17: 45,539,886 V363I probably benign Het
Vmn1r42 T C 6: 89,845,425 K54R probably benign Het
Vps13b A G 15: 35,917,128 N3706S probably benign Het
Vwde T C 6: 13,192,614 Y430C probably damaging Het
Wdr55 A G 18: 36,763,382 E375G probably benign Het
Zfp959 G A 17: 55,895,956 probably benign Het
Other mutations in Olfr1242
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01094:Olfr1242 APN 2 89493838 missense probably benign 0.03
IGL01573:Olfr1242 APN 2 89494201 missense probably damaging 0.99
IGL02707:Olfr1242 APN 2 89493827 missense probably damaging 1.00
IGL03253:Olfr1242 APN 2 89493799 missense possibly damaging 0.80
IGL03412:Olfr1242 APN 2 89494211 missense probably benign 0.02
R2012:Olfr1242 UTSW 2 89493998 missense probably benign 0.14
R5386:Olfr1242 UTSW 2 89494137 nonsense probably null
R5627:Olfr1242 UTSW 2 89494044 missense probably benign 0.03
R5735:Olfr1242 UTSW 2 89493468 missense probably damaging 1.00
R6216:Olfr1242 UTSW 2 89493722 missense probably damaging 1.00
R6787:Olfr1242 UTSW 2 89494034 nonsense probably null
R6898:Olfr1242 UTSW 2 89494250 missense possibly damaging 0.87
R7375:Olfr1242 UTSW 2 89493692 missense possibly damaging 0.86
R7481:Olfr1242 UTSW 2 89494292 missense probably benign 0.23
R8026:Olfr1242 UTSW 2 89493788 missense probably damaging 1.00
R8037:Olfr1242 UTSW 2 89493711 missense possibly damaging 0.95
Z1177:Olfr1242 UTSW 2 89493984 missense possibly damaging 0.64
Posted On2015-04-16