Incidental Mutation 'IGL02017:Olfr199'
ID183781
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr199
Ensembl Gene ENSMUSG00000074996
Gene Nameolfactory receptor 199
SynonymsGA_x54KRFPKG5P-55430495-55429569, MOR182-14
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL02017
Quality Score
Status
Chromosome16
Chromosomal Location59214134-59219767 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 59215947 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 222 (L222P)
Ref Sequence ENSEMBL: ENSMUSP00000150643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099657] [ENSMUST00000214186]
Predicted Effect probably damaging
Transcript: ENSMUST00000099657
AA Change: L222P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097249
Gene: ENSMUSG00000074996
AA Change: L222P

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.7e-48 PFAM
Pfam:7TM_GPCR_Srsx 35 305 1.6e-6 PFAM
Pfam:7tm_1 41 290 4.7e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214186
AA Change: L222P

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 24,781,759 I544N probably benign Het
Ago2 T C 15: 73,126,517 T271A probably benign Het
Aox3 A C 1: 58,120,992 K111N probably damaging Het
Arhgap39 G A 15: 76,737,037 R455C probably damaging Het
Brcc3 A G X: 75,422,783 D67G possibly damaging Het
Crot T G 5: 8,970,046 probably benign Het
Dusp5 A G 19: 53,537,506 H193R probably damaging Het
Ect2 G A 3: 27,122,044 R644* probably null Het
Epn3 A G 11: 94,495,026 S190P probably benign Het
Fam3c A G 6: 22,343,277 M1T probably null Het
Fam69c A T 18: 84,736,825 D142V probably damaging Het
Kif4 A G X: 100,638,354 N197S probably benign Het
Krt2 T C 15: 101,816,504 N224D probably damaging Het
Lama1 A G 17: 67,764,725 H869R probably benign Het
Lrrc14 G T 15: 76,713,742 R224L probably damaging Het
Macf1 T C 4: 123,499,931 D864G probably damaging Het
Map3k11 C T 19: 5,697,623 S603F possibly damaging Het
Mxra7 A G 11: 116,811,921 probably null Het
Myo5b C A 18: 74,716,999 D1139E probably damaging Het
Nek9 T C 12: 85,329,923 Y228C probably damaging Het
Nxph1 T C 6: 9,247,743 I238T probably damaging Het
Olfr1502 T A 19: 13,862,231 V146E possibly damaging Het
Olfr458 T C 6: 42,460,824 H65R probably benign Het
Pdpn A G 4: 143,270,570 probably benign Het
Plbd2 T C 5: 120,488,558 T329A probably damaging Het
Ptpn6 T C 6: 124,732,486 D8G probably damaging Het
Rad54l2 T C 9: 106,754,040 D16G possibly damaging Het
Slc43a3 A G 2: 84,938,241 E68G probably damaging Het
Snph G A 2: 151,600,982 R16C probably damaging Het
Ttn G A 2: 76,725,216 R28736* probably null Het
Vmn1r18 G A 6: 57,389,756 A271V probably benign Het
Other mutations in Olfr199
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Olfr199 APN 16 59216496 missense probably damaging 0.97
IGL00972:Olfr199 APN 16 59216466 missense probably damaging 1.00
IGL01734:Olfr199 APN 16 59216429 missense probably benign 0.12
IGL01876:Olfr199 APN 16 59216019 missense possibly damaging 0.89
IGL02871:Olfr199 APN 16 59216374 nonsense probably null
IGL03153:Olfr199 APN 16 59216203 missense probably benign 0.35
R0702:Olfr199 UTSW 16 59215699 missense probably benign
R0825:Olfr199 UTSW 16 59216450 missense possibly damaging 0.70
R1522:Olfr199 UTSW 16 59215984 missense probably damaging 1.00
R1769:Olfr199 UTSW 16 59215981 missense probably benign 0.01
R2144:Olfr199 UTSW 16 59216026 missense probably benign 0.00
R3956:Olfr199 UTSW 16 59216065 nonsense probably null
R4783:Olfr199 UTSW 16 59215859 missense probably damaging 0.98
R5534:Olfr199 UTSW 16 59216040 missense probably benign 0.39
R6031:Olfr199 UTSW 16 59215933 missense probably benign 0.00
R6031:Olfr199 UTSW 16 59215933 missense probably benign 0.00
R6141:Olfr199 UTSW 16 59216553 missense probably benign
R6445:Olfr199 UTSW 16 59216109 missense probably damaging 1.00
R6459:Olfr199 UTSW 16 59216020 missense probably benign 0.44
R6568:Olfr199 UTSW 16 59216278 missense probably benign 0.36
R7378:Olfr199 UTSW 16 59215920 missense probably benign 0.00
R7438:Olfr199 UTSW 16 59216398 missense probably benign 0.10
R8157:Olfr199 UTSW 16 59215989 missense probably benign
R8258:Olfr199 UTSW 16 59216095 missense probably benign 0.00
R8259:Olfr199 UTSW 16 59216095 missense probably benign 0.00
Posted On2014-05-07