Incidental Mutation 'IGL02374:Olfr1208'
ID291019
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1208
Ensembl Gene ENSMUSG00000075114
Gene Nameolfactory receptor 1208
SynonymsMOR225-4, GA_x6K02T2Q125-50372411-50371485
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL02374
Quality Score
Status
Chromosome2
Chromosomal Location88895575-88902311 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 88897459 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 46 (I46N)
Ref Sequence ENSEMBL: ENSMUSP00000149695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099810] [ENSMUST00000214121] [ENSMUST00000214297]
Predicted Effect probably damaging
Transcript: ENSMUST00000099810
AA Change: I46N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097398
Gene: ENSMUSG00000075114
AA Change: I46N

DomainStartEndE-ValueType
Pfam:7tm_4 28 302 1.9e-48 PFAM
Pfam:7tm_1 38 284 2.6e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214121
AA Change: I46N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000214297
AA Change: I46N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl5b T C 2: 15,068,192 Y35H probably damaging Het
Ccdc144b T C 3: 36,019,959 Q347R possibly damaging Het
Cnksr3 A G 10: 7,120,335 S300P probably damaging Het
Col27a1 T C 4: 63,293,249 S1013P possibly damaging Het
Cyp39a1 A G 17: 43,749,981 probably benign Het
Deptor G T 15: 55,180,961 L174F probably damaging Het
Fah T C 7: 84,605,701 E8G probably benign Het
Fastk C A 5: 24,444,249 A47S possibly damaging Het
Foxl2 C T 9: 98,955,832 L58F probably damaging Het
Igf2bp2 G T 16: 22,081,868 H106Q probably benign Het
Igkv12-47 T C 6: 69,750,975 T71A probably benign Het
Ino80d T C 1: 63,086,061 I81V possibly damaging Het
Ints9 G A 14: 65,039,333 E650K probably benign Het
Klc2 T C 19: 5,110,410 N408S possibly damaging Het
Klhl32 A T 4: 24,743,856 probably null Het
Ksr1 C T 11: 79,028,491 G504D probably benign Het
Lonp2 C A 8: 86,709,045 D636E probably damaging Het
Lpin3 G A 2: 160,895,838 probably benign Het
Mcmdc2 C T 1: 9,911,982 A56V possibly damaging Het
Olfr129 A T 17: 38,055,521 V24D probably damaging Het
Pex1 T C 5: 3,635,481 I1163T probably benign Het
Ppp1r3a C T 6: 14,718,600 V772I probably damaging Het
Ptbp2 A T 3: 119,720,693 probably benign Het
Rell1 A T 5: 63,937,808 I105K possibly damaging Het
Sis A T 3: 72,925,456 S1003T probably benign Het
Slc26a3 T A 12: 31,470,833 probably benign Het
Stap1 G A 5: 86,096,551 G264R probably damaging Het
Tmem176b T C 6: 48,834,626 N30D possibly damaging Het
Tmprss15 A T 16: 79,035,168 Y367N probably benign Het
Ttc41 A G 10: 86,775,951 D1061G probably damaging Het
Ufl1 A C 4: 25,259,237 D460E probably benign Het
Vmn2r104 T C 17: 20,042,786 I138V probably benign Het
Wdfy2 T C 14: 62,934,384 S194P probably benign Het
Zfp408 A C 2: 91,645,811 C333G probably damaging Het
Zfp592 T C 7: 81,024,983 V565A probably damaging Het
Other mutations in Olfr1208
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01340:Olfr1208 APN 2 88896977 missense probably damaging 1.00
IGL02132:Olfr1208 APN 2 88897159 missense probably benign
R1378:Olfr1208 UTSW 2 88897026 missense probably benign 0.01
R1570:Olfr1208 UTSW 2 88896946 missense probably damaging 1.00
R2056:Olfr1208 UTSW 2 88896761 missense probably damaging 1.00
R2092:Olfr1208 UTSW 2 88897267 missense probably damaging 0.99
R2185:Olfr1208 UTSW 2 88896703 missense probably damaging 0.99
R5223:Olfr1208 UTSW 2 88897334 missense probably benign 0.03
R5479:Olfr1208 UTSW 2 88896691 missense probably benign 0.13
R6463:Olfr1208 UTSW 2 88897118 missense probably benign 0.00
R6859:Olfr1208 UTSW 2 88896934 missense probably benign
R7347:Olfr1208 UTSW 2 88897271 missense possibly damaging 0.51
R7352:Olfr1208 UTSW 2 88896718 missense probably damaging 1.00
R7544:Olfr1208 UTSW 2 88897361 missense probably damaging 1.00
R7713:Olfr1208 UTSW 2 88897778 start gained probably benign
R7842:Olfr1208 UTSW 2 88896961 missense possibly damaging 0.89
R7869:Olfr1208 UTSW 2 88897064 missense probably benign 0.00
R8137:Olfr1208 UTSW 2 88896669 makesense probably null
R8168:Olfr1208 UTSW 2 88896776 missense probably benign 0.09
Z1176:Olfr1208 UTSW 2 88897061 missense probably damaging 1.00
Z1177:Olfr1208 UTSW 2 88896800 nonsense probably null
Posted On2015-04-16