Incidental Mutation 'IGL01337:Olfr1247'
ID74666
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1247
Ensembl Gene ENSMUSG00000075081
Gene Nameolfactory receptor 1247
SynonymsMOR231-6, GA_x6K02T2Q125-51051555-51050611
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL01337
Quality Score
Status
Chromosome2
Chromosomal Location89604959-89614130 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 89609376 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 242 (I242T)
Ref Sequence ENSEMBL: ENSMUSP00000149408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099771] [ENSMUST00000111532] [ENSMUST00000216424]
Predicted Effect probably damaging
Transcript: ENSMUST00000099771
AA Change: I242T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097359
Gene: ENSMUSG00000075081
AA Change: I242T

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 4.9e-29 PFAM
Pfam:7tm_4 137 278 4.2e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111532
AA Change: I242T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107157
Gene: ENSMUSG00000075081
AA Change: I242T

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.2e-48 PFAM
Pfam:7tm_1 39 285 1.6e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216424
AA Change: I242T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,668,570 Y1025H probably damaging Het
Adarb2 T C 13: 8,570,246 L256P probably benign Het
Arsj A G 3: 126,365,114 Y114C probably damaging Het
Bdp1 G A 13: 100,056,192 P1378L probably benign Het
Clca2 T C 3: 145,095,178 Y138C probably damaging Het
Dsp G A 13: 38,192,687 D1483N probably benign Het
Etl4 T C 2: 20,785,387 S617P probably benign Het
Fbxo34 T C 14: 47,530,217 S345P probably benign Het
Gm5420 A G 10: 21,691,615 noncoding transcript Het
Gpr182 T A 10: 127,750,786 I99F possibly damaging Het
Hectd1 A G 12: 51,802,274 I349T possibly damaging Het
Kifc5b A G 17: 26,924,744 T497A possibly damaging Het
Mllt3 A C 4: 87,840,820 D330E probably damaging Het
Mpp3 T C 11: 102,000,585 T576A probably benign Het
Mroh2b A G 15: 4,905,024 M126V probably benign Het
Naalad2 T G 9: 18,327,373 D644A probably damaging Het
Otof C A 5: 30,405,777 A242S possibly damaging Het
Otof T C 5: 30,419,512 D132G probably benign Het
Pdk4 T A 6: 5,491,869 M68L probably benign Het
Ptprf A G 4: 118,236,291 Y385H probably damaging Het
Rxrb A G 17: 34,036,631 N254S probably damaging Het
Samd5 T A 10: 9,629,024 Y162F probably benign Het
Sapcd2 A G 2: 25,376,479 *392W probably null Het
Senp6 T C 9: 80,136,510 Y635H probably damaging Het
Serpine1 C A 5: 137,069,331 V163L probably damaging Het
Slc15a1 T C 14: 121,460,679 E678G possibly damaging Het
Slc22a16 T C 10: 40,595,314 F494L possibly damaging Het
Slc5a12 T A 2: 110,620,373 C304* probably null Het
Spink1 G A 18: 43,737,151 probably benign Het
Star G A 8: 25,809,864 G78E probably damaging Het
Stx1a T C 5: 135,045,664 I203T probably damaging Het
Tap2 A G 17: 34,205,412 probably benign Het
Trim75 T C 8: 64,983,735 D21G possibly damaging Het
Vmn1r62 T A 7: 5,676,145 I275N probably damaging Het
Other mutations in Olfr1247
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01101:Olfr1247 APN 2 89609847 missense probably benign 0.00
IGL02537:Olfr1247 APN 2 89609395 missense possibly damaging 0.88
IGL02651:Olfr1247 APN 2 89609498 missense possibly damaging 0.67
IGL02734:Olfr1247 APN 2 89609959 missense probably benign 0.04
IGL03177:Olfr1247 APN 2 89609482 missense probably benign 0.03
IGL03184:Olfr1247 APN 2 89609568 missense probably damaging 1.00
R0207:Olfr1247 UTSW 2 89609863 missense probably damaging 0.97
R0278:Olfr1247 UTSW 2 89609763 missense probably damaging 1.00
R0278:Olfr1247 UTSW 2 89609764 missense probably damaging 1.00
R0601:Olfr1247 UTSW 2 89609220 missense probably benign 0.00
R0633:Olfr1247 UTSW 2 89609374 missense probably benign 0.10
R1824:Olfr1247 UTSW 2 89609349 missense probably damaging 1.00
R1863:Olfr1247 UTSW 2 89609709 nonsense probably null
R2073:Olfr1247 UTSW 2 89609478 missense probably benign 0.01
R2074:Olfr1247 UTSW 2 89609478 missense probably benign 0.01
R2075:Olfr1247 UTSW 2 89609478 missense probably benign 0.01
R3921:Olfr1247 UTSW 2 89609509 missense probably benign 0.00
R4559:Olfr1247 UTSW 2 89609699 missense probably damaging 0.99
R5128:Olfr1247 UTSW 2 89609303 missense probably damaging 1.00
R5140:Olfr1247 UTSW 2 89609283 missense probably damaging 1.00
R5426:Olfr1247 UTSW 2 89609739 missense probably damaging 1.00
R5896:Olfr1247 UTSW 2 89609323 missense probably damaging 0.98
R5902:Olfr1247 UTSW 2 89609251 missense probably damaging 1.00
R6478:Olfr1247 UTSW 2 89609446 missense probably damaging 1.00
R7143:Olfr1247 UTSW 2 89610019 missense probably benign 0.00
R7221:Olfr1247 UTSW 2 89609928 missense probably damaging 1.00
R7599:Olfr1247 UTSW 2 89609227 missense possibly damaging 0.89
Posted On2013-10-07