Incidental Mutation 'IGL02962:Olfr488'
ID365380
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr488
Ensembl Gene ENSMUSG00000096465
Gene Nameolfactory receptor 488
SynonymsGA_x6K02T2PBJ9-10586187-10585243, MOR204-15
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.356) question?
Stock #IGL02962
Quality Score
Status
Chromosome7
Chromosomal Location108251617-108258347 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 108255703 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 145 (I145N)
Ref Sequence ENSEMBL: ENSMUSP00000149427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072968] [ENSMUST00000211345] [ENSMUST00000211508] [ENSMUST00000215173]
Predicted Effect possibly damaging
Transcript: ENSMUST00000072968
AA Change: I145N

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000072735
Gene: ENSMUSG00000096465
AA Change: I145N

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 5.7e-53 PFAM
Pfam:7tm_1 44 293 2.6e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211345
AA Change: I145N
Predicted Effect possibly damaging
Transcript: ENSMUST00000211508
AA Change: I145N

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215173
AA Change: I145N

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,610,593 probably null Het
9530068E07Rik T C 11: 52,403,535 V209A possibly damaging Het
Abca3 T A 17: 24,400,409 V907E probably damaging Het
Acvrl1 T C 15: 101,135,501 Y90H probably benign Het
Aff3 T C 1: 38,535,656 D81G probably damaging Het
Amn G T 12: 111,274,517 V152L probably damaging Het
Arhgap44 A G 11: 65,067,161 probably benign Het
Atad5 T A 11: 80,108,579 V895D possibly damaging Het
Card9 T G 2: 26,358,017 probably null Het
Ccer1 T C 10: 97,693,840 S122P unknown Het
Ccr2 A G 9: 124,105,675 probably benign Het
Dsg1a T A 18: 20,340,324 I818N possibly damaging Het
Ear10 G T 14: 43,923,317 L18I probably damaging Het
Gm13089 T A 4: 143,697,340 E293V probably benign Het
Mertk A G 2: 128,777,454 Y544C probably damaging Het
Miga1 A T 3: 152,285,341 probably benign Het
Myo18a T C 11: 77,778,235 V307A probably damaging Het
Olfr1354 T A 10: 78,916,939 L33H probably damaging Het
Pou2f3 T C 9: 43,125,089 probably benign Het
Prickle2 A C 6: 92,376,422 S744A probably benign Het
Prkcb T A 7: 122,425,047 probably null Het
Prkd2 A G 7: 16,869,832 T813A probably benign Het
Prkra G A 2: 76,633,547 T257M probably damaging Het
Rbm18 C T 2: 36,122,874 R102Q probably damaging Het
Rbsn A G 6: 92,190,326 S446P probably benign Het
Rpgrip1l A T 8: 91,270,362 V28D possibly damaging Het
Sdccag8 A T 1: 176,948,362 K613I probably damaging Het
Serbp1 G A 6: 67,267,119 G8D probably damaging Het
Slc6a2 T A 8: 92,972,762 Y139* probably null Het
Slc7a2 T A 8: 40,905,584 F321L probably damaging Het
Slco1b2 G A 6: 141,648,553 S48N probably damaging Het
Ssbp2 G T 13: 91,642,371 V118L possibly damaging Het
Sugp1 T A 8: 70,059,862 probably benign Het
Taar5 C A 10: 23,970,985 R94S possibly damaging Het
Tgs1 G T 4: 3,586,181 A353S probably benign Het
Trav1 A G 14: 52,428,642 E32G probably damaging Het
Trp53bp2 T C 1: 182,431,595 V71A probably benign Het
Vmn2r50 T C 7: 10,050,325 Y74C probably damaging Het
Wars A T 12: 108,875,780 M147K probably damaging Het
Other mutations in Olfr488
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01575:Olfr488 APN 7 108255535 missense possibly damaging 0.89
IGL02510:Olfr488 APN 7 108256141 utr 5 prime probably benign
IGL02943:Olfr488 APN 7 108255416 missense possibly damaging 0.80
PIT4472001:Olfr488 UTSW 7 108256103 missense possibly damaging 0.46
R0980:Olfr488 UTSW 7 108256022 small deletion probably benign
R0981:Olfr488 UTSW 7 108256021 small deletion probably benign
R0981:Olfr488 UTSW 7 108256022 small deletion probably benign
R1957:Olfr488 UTSW 7 108255196 nonsense probably null
R3147:Olfr488 UTSW 7 108255676 missense possibly damaging 0.89
R4163:Olfr488 UTSW 7 108255832 missense probably benign 0.06
R4190:Olfr488 UTSW 7 108256123 missense probably benign
R4911:Olfr488 UTSW 7 108256037 missense possibly damaging 0.81
R5274:Olfr488 UTSW 7 108255635 missense probably benign 0.02
R5684:Olfr488 UTSW 7 108256039 missense possibly damaging 0.75
R6394:Olfr488 UTSW 7 108255763 missense possibly damaging 0.95
R6467:Olfr488 UTSW 7 108255902 missense probably damaging 0.99
R7173:Olfr488 UTSW 7 108255748 missense possibly damaging 0.78
R7317:Olfr488 UTSW 7 108255218 missense probably benign 0.00
R7348:Olfr488 UTSW 7 108256123 missense probably benign
R7485:Olfr488 UTSW 7 108255838 missense probably damaging 1.00
Posted On2015-12-18