Incidental Mutation 'IGL02871:Olfr1248'
ID362558
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1248
Ensembl Gene ENSMUSG00000111239
Gene Nameolfactory receptor 1248
SynonymsMOR231-10, GA_x6K02T2Q125-51059648-51058725
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.141) question?
Stock #IGL02871
Quality Score
Status
Chromosome2
Chromosomal Location89617168-89618245 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89618160 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 11 (I11V)
Ref Sequence ENSEMBL: ENSMUSP00000150117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111532] [ENSMUST00000186710] [ENSMUST00000216129] [ENSMUST00000216424]
Predicted Effect probably benign
Transcript: ENSMUST00000111532
SMART Domains Protein: ENSMUSP00000107157
Gene: ENSMUSG00000075081

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.2e-48 PFAM
Pfam:7tm_1 39 285 1.6e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186710
AA Change: I11V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000140045
Gene: ENSMUSG00000110819
AA Change: I11V

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 5.1e-28 PFAM
Pfam:7tm_4 137 278 1e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216129
AA Change: I11V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000216424
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl15 C A 13: 114,154,838 H179Q probably benign Het
Bin3 T A 14: 70,128,905 C72* probably null Het
Brca2 C T 5: 150,542,552 T1927I probably benign Het
Cap2 A G 13: 46,525,492 D26G probably benign Het
Casz1 T G 4: 148,944,319 S1074A possibly damaging Het
Chd5 C T 4: 152,376,685 P1244L probably damaging Het
Exosc9 A G 3: 36,565,281 N408S probably benign Het
Ezr G A 17: 6,742,390 Q352* probably null Het
Fbxl4 T A 4: 22,386,213 D273E probably benign Het
Gm3269 A T 14: 4,841,042 N193I probably damaging Het
Haus8 A T 8: 71,256,494 M90K probably benign Het
Igkv5-39 A T 6: 69,900,506 S89T probably benign Het
Nlrp4b A C 7: 10,715,265 D465A probably benign Het
Nsf A G 11: 103,862,056 probably benign Het
Nt5c1b G A 12: 10,381,325 M409I probably damaging Het
Olfr1195 T A 2: 88,683,084 Y216F probably damaging Het
Olfr199 T A 16: 59,216,374 K80* probably null Het
Pga5 T C 19: 10,671,780 probably benign Het
Pigk T A 3: 152,766,516 I355K probably damaging Het
Prom1 T C 5: 44,029,676 Y404C probably damaging Het
Ptprs T C 17: 56,447,443 E199G probably damaging Het
Sec24c T C 14: 20,692,882 S935P probably benign Het
Slc22a13 T C 9: 119,196,011 T200A probably benign Het
Svep1 T A 4: 58,100,871 I1264L probably benign Het
Tcf7l2 T A 19: 55,918,997 C349S probably damaging Het
Thbs2 T C 17: 14,685,786 H284R probably benign Het
Vmn2r19 C T 6: 123,336,083 S704L probably damaging Het
Vmn2r50 A G 7: 10,047,787 Y344H possibly damaging Het
Other mutations in Olfr1248
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4431001:Olfr1248 UTSW 2 89617857 missense probably benign 0.00
R0504:Olfr1248 UTSW 2 89618094 missense probably damaging 1.00
R0761:Olfr1248 UTSW 2 89617835 missense probably damaging 1.00
R2176:Olfr1248 UTSW 2 89617580 missense possibly damaging 0.54
R3722:Olfr1248 UTSW 2 89618159 missense possibly damaging 0.88
R4030:Olfr1248 UTSW 2 89617863 missense probably damaging 0.99
R4440:Olfr1248 UTSW 2 89618168 missense probably damaging 1.00
R4756:Olfr1248 UTSW 2 89617470 missense possibly damaging 0.86
R4981:Olfr1248 UTSW 2 89617425 missense probably damaging 1.00
R5678:Olfr1248 UTSW 2 89617281 missense probably benign
R6503:Olfr1248 UTSW 2 89617578 missense possibly damaging 0.76
R6569:Olfr1248 UTSW 2 89618015 missense possibly damaging 0.83
R6770:Olfr1248 UTSW 2 89617862 missense probably benign 0.39
Posted On2015-12-18