Incidental Mutation 'IGL02795:Olfr183'
ID359934
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr183
Ensembl Gene ENSMUSG00000062105
Gene Nameolfactory receptor 183
SynonymsMOR183-2, GA_x54KRFPKG5P-55229158-55230087
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL02795
Quality Score
Status
Chromosome16
Chromosomal Location58995357-59001441 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 59000277 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 197 (L197F)
Ref Sequence ENSEMBL: ENSMUSP00000149279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073320] [ENSMUST00000206303] [ENSMUST00000213465] [ENSMUST00000214831] [ENSMUST00000214916]
Predicted Effect possibly damaging
Transcript: ENSMUST00000073320
AA Change: L197F

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000080602
Gene: ENSMUSG00000062105
AA Change: L197F

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.7e-48 PFAM
Pfam:7tm_1 41 290 4.4e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000206303
AA Change: L197F

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000213465
AA Change: L197F

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214831
AA Change: L197F

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214916
AA Change: L197F

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,288,748 L1391P probably damaging Het
Abcc3 G A 11: 94,361,642 probably benign Het
Acvr1 A G 2: 58,462,952 I332T probably damaging Het
Atp8a2 C T 14: 60,033,742 V247M probably damaging Het
Btn1a1 T C 13: 23,460,616 probably null Het
Btnl9 A T 11: 49,174,867 probably benign Het
Dbx1 T A 7: 49,636,577 I47F probably benign Het
Dnaja3 A G 16: 4,690,073 probably benign Het
Dnmt1 T C 9: 20,927,111 S220G probably benign Het
Dock9 A T 14: 121,639,978 M451K probably benign Het
Eml3 A G 19: 8,933,778 Y257C probably benign Het
Fbxw19 C A 9: 109,495,818 M10I possibly damaging Het
Flg2 C T 3: 93,203,613 R983W unknown Het
Galnt5 C A 2: 58,027,871 P707H probably damaging Het
Gba2 G T 4: 43,578,331 P6Q probably damaging Het
Gm13199 A G 2: 5,862,673 probably benign Het
Gpr45 C T 1: 43,032,493 R99C possibly damaging Het
Hecw1 G A 13: 14,322,517 S302L probably damaging Het
Hrg T C 16: 22,957,553 probably benign Het
Kdelc2 A G 9: 53,392,105 D99G probably damaging Het
Lama1 A G 17: 67,738,894 probably null Het
Lgr4 T C 2: 110,008,210 probably benign Het
Lrrc9 C T 12: 72,478,768 T830M probably damaging Het
Mdga2 T C 12: 66,689,432 T341A probably benign Het
Mms19 C T 19: 41,952,406 probably null Het
Nectin1 A G 9: 43,803,552 S362G probably benign Het
Nlrc3 G T 16: 3,965,285 H87N probably damaging Het
Oit1 T A 14: 8,355,497 M113L probably benign Het
Olfr1018 T A 2: 85,823,512 C180* probably null Het
Olfr142 A G 2: 90,252,562 L142P probably damaging Het
Olfr23 G A 11: 73,940,929 V228I probably benign Het
Olfr243 T A 7: 103,716,883 F96L probably benign Het
Pcsk1 G T 13: 75,112,620 G321C probably damaging Het
Prrc2c G T 1: 162,714,299 P374T probably benign Het
Rusc1 A T 3: 89,091,950 L175Q probably damaging Het
Ryr2 T C 13: 11,595,190 N4250S probably benign Het
Scara5 A C 14: 65,730,680 N134T possibly damaging Het
Sema4d T C 13: 51,703,411 K595R probably benign Het
Serpinb6a A C 13: 33,931,593 L15R probably damaging Het
Setdb1 A T 3: 95,327,373 N1006K probably damaging Het
Slc18a2 G A 19: 59,274,490 probably benign Het
Slc22a30 C T 19: 8,400,895 C139Y probably damaging Het
Slc25a27 T A 17: 43,647,112 Y269F probably damaging Het
Slc9c1 A T 16: 45,575,419 D611V probably benign Het
Spag6 G T 2: 18,733,083 V255F probably benign Het
St5 T C 7: 109,556,364 Y393C probably damaging Het
Svep1 C A 4: 58,123,223 G698W probably damaging Het
Syne2 T C 12: 75,966,549 L2839P probably damaging Het
Tfb2m T C 1: 179,545,959 E58G possibly damaging Het
Trim24 A T 6: 37,919,389 E260D probably damaging Het
Ugt2b1 T A 5: 86,917,701 D493V probably damaging Het
Vmn1r27 A G 6: 58,215,302 V189A possibly damaging Het
Vmn2r91 A G 17: 18,085,277 Q74R probably benign Het
Vps25 A G 11: 101,256,090 Y64C probably damaging Het
Xirp2 G A 2: 67,509,136 G574S probably damaging Het
Ythdc2 A G 18: 44,837,438 E273G possibly damaging Het
Other mutations in Olfr183
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02294:Olfr183 APN 16 59000065 missense probably damaging 1.00
IGL02803:Olfr183 APN 16 58999958 missense probably benign 0.33
IGL02837:Olfr183 UTSW 16 59000546 missense probably damaging 1.00
R0045:Olfr183 UTSW 16 59000491 missense probably benign 0.00
R0372:Olfr183 UTSW 16 59000087 missense probably benign 0.03
R0652:Olfr183 UTSW 16 58999700 missense probably damaging 0.99
R0890:Olfr183 UTSW 16 58999787 missense possibly damaging 0.94
R1279:Olfr183 UTSW 16 59000138 missense possibly damaging 0.94
R1429:Olfr183 UTSW 16 59000138 missense possibly damaging 0.94
R1473:Olfr183 UTSW 16 58999912 missense probably benign 0.32
R2115:Olfr183 UTSW 16 59000420 missense possibly damaging 0.50
R2117:Olfr183 UTSW 16 59000420 missense possibly damaging 0.50
R4508:Olfr183 UTSW 16 58999775 missense probably benign 0.26
R4709:Olfr183 UTSW 16 59000095 missense probably benign 0.01
R4929:Olfr183 UTSW 16 59000219 missense probably damaging 1.00
R5478:Olfr183 UTSW 16 59000062 missense possibly damaging 0.88
R5522:Olfr183 UTSW 16 58999905 missense probably benign 0.22
R5571:Olfr183 UTSW 16 59000206 missense probably benign 0.02
R5685:Olfr183 UTSW 16 59000346 missense probably benign
R6064:Olfr183 UTSW 16 58999823 missense probably damaging 0.99
R7443:Olfr183 UTSW 16 58999990 missense probably damaging 0.96
R7870:Olfr183 UTSW 16 58999723 missense probably benign 0.00
R7953:Olfr183 UTSW 16 58999723 missense probably benign 0.00
Posted On2015-12-18