Incidental Mutation 'IGL02803:Olfr183'
ID 360302
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr183
Ensembl Gene ENSMUSG00000062105
Gene Name olfactory receptor 183
Synonyms MOR183-2, GA_x54KRFPKG5P-55229158-55230087
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # IGL02803
Quality Score
Status
Chromosome 16
Chromosomal Location 58995357-59001441 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58999958 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 91 (V91E)
Ref Sequence ENSEMBL: ENSMUSP00000149279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073320] [ENSMUST00000206303] [ENSMUST00000213465] [ENSMUST00000214831] [ENSMUST00000214916]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000073320
AA Change: V91E

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000080602
Gene: ENSMUSG00000062105
AA Change: V91E

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.7e-48 PFAM
Pfam:7tm_1 41 290 4.4e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000206303
AA Change: V91E

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000213465
AA Change: V91E

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000214831
AA Change: V91E

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000214916
AA Change: V91E

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agmo C T 12: 37,252,481 L106F probably benign Het
Appl1 A G 14: 26,951,516 I208T possibly damaging Het
Arap2 G T 5: 62,749,109 A189D probably benign Het
Arhgef12 T C 9: 42,972,028 K1402E possibly damaging Het
C7 A C 15: 5,049,560 F89V probably damaging Het
Camsap2 G A 1: 136,281,123 T877I probably damaging Het
Cpt2 T C 4: 107,907,386 T394A probably benign Het
Csnk2a1 G T 2: 152,274,085 probably benign Het
Dnah10 C A 5: 124,798,014 T2528N probably damaging Het
Entpd8 G T 2: 25,085,139 W494L probably damaging Het
Fam114a1 T A 5: 65,005,792 probably benign Het
Fat4 T C 3: 38,889,295 V779A probably damaging Het
Gckr T C 5: 31,298,204 S34P probably damaging Het
Golga4 T C 9: 118,535,460 V297A probably benign Het
Gpr65 T C 12: 98,275,210 S41P probably damaging Het
Gps1 G T 11: 120,786,823 A221S probably damaging Het
Heatr1 T A 13: 12,433,986 S1861T probably damaging Het
Hmces A G 6: 87,925,729 E184G probably damaging Het
Itfg1 T C 8: 85,725,511 probably null Het
Mkl2 C T 16: 13,403,156 T743I possibly damaging Het
Nfe2l3 A G 6: 51,457,311 S284G possibly damaging Het
Nlrp2 C A 7: 5,328,318 A360S probably damaging Het
Nop9 A G 14: 55,750,076 H298R probably benign Het
Olfr1434 A T 19: 12,283,983 S312C possibly damaging Het
Olfr522 T C 7: 140,162,374 D192G possibly damaging Het
Osgin1 A G 8: 119,443,267 M158V probably benign Het
Patj C A 4: 98,426,064 Q374K probably damaging Het
Pck1 G T 2: 173,156,004 G289W probably damaging Het
Phkg1 T G 5: 129,866,054 I219L possibly damaging Het
Ppp1r15b G A 1: 133,133,343 A533T probably damaging Het
Ppwd1 T C 13: 104,213,684 I398V probably benign Het
Prkdc A G 16: 15,833,666 probably benign Het
Psg25 G A 7: 18,526,287 L229F possibly damaging Het
Rps6ka1 T A 4: 133,880,954 Q24L probably benign Het
Sgk3 T C 1: 9,879,048 I147T possibly damaging Het
Slc25a24 T A 3: 109,155,071 I159N probably damaging Het
Slc26a4 T C 12: 31,522,527 probably null Het
Slc35f4 T C 14: 49,304,257 I347V probably benign Het
Spag17 A T 3: 100,109,397 M2163L probably benign Het
Stab2 C T 10: 86,950,269 probably benign Het
Sult2a8 G A 7: 14,411,705 probably benign Het
Syne2 T C 12: 76,031,546 L4718P probably damaging Het
Timd4 G T 11: 46,815,694 G108W probably damaging Het
Timm9 T C 12: 71,126,374 probably benign Het
Vmn2r98 G A 17: 19,066,013 V258I probably benign Het
Zcchc9 C T 13: 91,800,881 V174I probably benign Het
Zdbf2 T C 1: 63,303,077 V205A possibly damaging Het
Other mutations in Olfr183
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02294:Olfr183 APN 16 59000065 missense probably damaging 1.00
IGL02795:Olfr183 APN 16 59000277 missense possibly damaging 0.73
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
R8085:Olfr183 UTSW 16 59000069 missense probably benign 0.02
R8459:Olfr183 UTSW 16 58999985 missense probably damaging 1.00
R9177:Olfr183 UTSW 16 58999720 missense probably damaging 0.99
R9268:Olfr183 UTSW 16 58999720 missense probably damaging 0.99
R9569:Olfr183 UTSW 16 58999865 missense probably damaging 1.00
Posted On 2015-12-18