Incidental Mutation 'IGL02985:Olfr48'
ID406699
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr48
Ensembl Gene ENSMUSG00000075072
Gene Nameolfactory receptor 48
SynonymsIC3, MOR232-5, GA_x6K02T2Q125-51285881-51284976
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL02985
Quality Score
Status
Chromosome2
Chromosomal Location89841793-89848205 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 89844340 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 211 (I211N)
Ref Sequence ENSEMBL: ENSMUSP00000150505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099762] [ENSMUST00000111520] [ENSMUST00000213833] [ENSMUST00000214428] [ENSMUST00000215613]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099762
AA Change: I211N

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097350
Gene: ENSMUSG00000075072
AA Change: I211N

DomainStartEndE-ValueType
Pfam:7tm_4 26 299 1e-47 PFAM
Pfam:7tm_1 36 282 8.5e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111520
SMART Domains Protein: ENSMUSP00000107145
Gene: ENSMUSG00000075073

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.5e-47 PFAM
Pfam:7TM_GPCR_Srsx 33 300 1.1e-5 PFAM
Pfam:7tm_1 39 285 1.3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213833
Predicted Effect possibly damaging
Transcript: ENSMUST00000214428
AA Change: I211N

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000215613
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216674
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
4932438A13Rik T C 3: 36,958,757 L1862S probably damaging Het
Actc1 T C 2: 114,048,160 E318G probably damaging Het
Birc6 T C 17: 74,640,190 V2968A probably benign Het
Csgalnact1 A G 8: 68,461,043 V170A probably benign Het
Dph1 A G 11: 75,183,593 V131A possibly damaging Het
Galr1 A T 18: 82,393,730 M337K probably benign Het
Gm14214 G T 2: 154,769,454 T160N probably benign Het
Gpatch8 G T 11: 102,481,510 H401N unknown Het
Higd1a A G 9: 121,852,530 F20L probably benign Het
Hmcn1 A T 1: 150,671,917 I2761K probably damaging Het
Hspg2 T A 4: 137,507,803 Y83N probably damaging Het
Ilvbl C T 10: 78,579,067 P255S probably benign Het
Kpna2 T C 11: 106,989,337 Y495C probably benign Het
Krt36 G T 11: 100,103,179 Q327K probably benign Het
Lrrc34 T C 3: 30,636,295 M153V probably benign Het
Maats1 T A 16: 38,298,272 I722F probably damaging Het
Map9 A T 3: 82,359,902 R30* probably null Het
Mcf2l A G 8: 12,963,239 Y48C probably damaging Het
Mfsd13b T A 7: 121,000,172 I397K probably damaging Het
Mpp7 C A 18: 7,461,637 probably null Het
Mrgprx2 C T 7: 48,482,497 C191Y probably damaging Het
Pabpc4l A G 3: 46,446,582 V209A possibly damaging Het
Pde7a T A 3: 19,310,883 H40L probably damaging Het
Phactr3 T C 2: 178,175,457 V22A probably benign Het
Plcl2 G T 17: 50,687,814 E1104* probably null Het
Ppp2cb A G 8: 33,615,446 probably benign Het
Prl3c1 A T 13: 27,199,387 Y12F probably damaging Het
Prune2 T C 19: 17,016,359 probably null Het
Rfesd T C 13: 76,008,212 D25G probably damaging Het
Rxfp1 C A 3: 79,652,226 M429I possibly damaging Het
Tmf1 A G 6: 97,176,809 L101P probably damaging Het
Ube2d2b T C 5: 107,830,797 S105P probably damaging Het
Wdr92 G A 11: 17,229,845 G282E probably damaging Het
Zfp518a C T 19: 40,913,667 T680I possibly damaging Het
Other mutations in Olfr48
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01661:Olfr48 APN 2 89844095 missense probably benign 0.00
IGL02184:Olfr48 APN 2 89844385 missense probably damaging 0.98
IGL02408:Olfr48 APN 2 89844971 start codon destroyed probably benign 0.04
IGL02437:Olfr48 APN 2 89844784 missense probably damaging 0.98
IGL03230:Olfr48 APN 2 89844113 missense probably benign
IGL03393:Olfr48 APN 2 89844569 missense probably benign 0.00
R0482:Olfr48 UTSW 2 89844169 missense probably benign 0.20
R0555:Olfr48 UTSW 2 89844443 missense probably benign 0.00
R1268:Olfr48 UTSW 2 89844154 missense probably damaging 0.98
R1617:Olfr48 UTSW 2 89844254 missense probably benign 0.03
R3552:Olfr48 UTSW 2 89844343 missense possibly damaging 0.53
R4172:Olfr48 UTSW 2 89844778 missense probably damaging 1.00
R4173:Olfr48 UTSW 2 89844778 missense probably damaging 1.00
R4174:Olfr48 UTSW 2 89844778 missense probably damaging 1.00
R5540:Olfr48 UTSW 2 89844667 missense probably damaging 1.00
R5909:Olfr48 UTSW 2 89844391 missense possibly damaging 0.89
R5941:Olfr48 UTSW 2 89844515 missense probably benign 0.07
R7425:Olfr48 UTSW 2 89844445 missense probably damaging 0.99
R7445:Olfr48 UTSW 2 89844272 missense probably damaging 0.99
R7660:Olfr48 UTSW 2 89844443 missense probably benign 0.00
R7996:Olfr48 UTSW 2 89844415 missense probably benign 0.28
R8026:Olfr48 UTSW 2 89844929 missense probably benign 0.06
Posted On2016-08-02